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 PLEKHN1 84069 genome.wustl.edu 37 1 907488 907488 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032129.2 +1 validated p.L275M 0.993 59 0% 100 30% 0 - possibly_damaging(0.888) tolerated(0.08) deleterious(0.647) HMMSmart_PH,superfamily_SSF50729 SDF4 51150 genome.wustl.edu 37 1 1159328 1159328 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016176.3 -1 validated p.R116Q 0.145 39 0% 75 30.7% 337 34.7% benign(0.151) tolerated(0.4) neutral(0.029) HMMSmart_SM00054,PatternScan_EF_HAND_1,superfamily_EF-hand SCNN1D 6339 genome.wustl.edu 37 1 1221034 1221034 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130413.1 +1 validated p.K85R 0.000 17 0% 45 35.6% 1 0% possibly_damaging(0.539) tolerated(0.66) neutral(0.185) NULL SCNN1D 6339 genome.wustl.edu 37 1 1223177 1223177 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000379099 +1 known p.R161C 0.996 22 0% 37 37.8% 6 16.6% - - - HMMPfam_ASC TAS1R3 83756 genome.wustl.edu 37 1 1267135 1267135 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152228.1 +1 provisional p.C103 0.948 35 0% 66 37.9% 5 0% - - - HMMPfam_ANF_receptor,superfamily_SSF53822 CCNL2 81669 genome.wustl.edu 37 1 1325701 1325701 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030937.4 -1 validated p.I305 0.000 103 0% 173 33.5% 108 43.5% - - - superfamily_Cyclin-like ATAD3C 219293 genome.wustl.edu 37 1 1391200 1391200 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039211.2 +1 validated p.I156 0.979 59 0% 80 42.5% 1 100% - - - superfamily_SSF52540 ATAD3B 83858 genome.wustl.edu 37 1 1421543 1421543 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031921.4 +1 provisional p.K339N 0.992 47 0% 115 29.6% 34 47% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_P-loop containing nucleoside triphosphate hydrolases MIB2 142678 genome.wustl.edu 37 1 1563680 1563680 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000514234 +1 known p.A497T 0.426 27 0% 63 27% 89 39.3% - - - HMMSmart_SM00248,superfamily_Ankyrin repeat MORN1 79906 genome.wustl.edu 37 1 2290058 2290058 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024848.1 -1 provisional p.N281S 0.000 190 0% 354 35.9% 3 33.3% benign(0) tolerated(0.35) neutral(0.021) NULL MMEL1 79258 genome.wustl.edu 37 1 2526775 2526775 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033467.3 -1 reviewed p.I499 0.670 63 0% 103 33% 1 100% - - - "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" PRDM16 63976 genome.wustl.edu 37 1 3160683 3160683 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022114.3 +1 reviewed p.Q140H 0.996 55 0% 137 19% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00317,superfamily_SET domain PRDM16 63976 genome.wustl.edu 37 1 3342265 3342265 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022114.3 +1 reviewed p.Q1019H 1.000 40 0% 75 29.3% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MEGF6 1953 genome.wustl.edu 37 1 3427357 3427357 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000485002 -1 known p.A248V 0.044 5 0.000 20 0.400 6 16.6% - - - HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin TPRG1L 127262 genome.wustl.edu 37 1 3542422 3542422 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182752.3 +1 validated p.E147* 1.000 58 0% 104 23.1% 24 0% - - - NULL CCDC27 148870 genome.wustl.edu 37 1 3670717 3670717 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152492.2 +1 validated p.F118L 0.053 55 0% 106 29.2% 0 - benign(0.053) deleterious(0) neutral(0.448) NULL CEP104 9731 genome.wustl.edu 37 1 3755665 3755665 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014704.3 -1 validated p.R252G 0.994 102 0% 94 36.2% 13 30.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CEP104 9731 genome.wustl.edu 37 1 3765296 3765296 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014704.3 -1 validated p.R55* 0.999 125 0.8% 147 31.3% 17 52.9% - - - NULL DFFB 1677 genome.wustl.edu 37 1 3800126 3800126 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004402.2 +1 reviewed p.D280Y 0.000 232 0% 342 28.1% 8 25% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_DFF40,superfamily_His-Me finger endonucleases NPHP4 261734 genome.wustl.edu 37 1 5927117 5927117 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015102.2 -1 reviewed p.P1177 0.001 36 0% 73 31.5% 10 60% - - - NULL NPHP4 261734 genome.wustl.edu 37 1 6038332 6038332 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015102.2 -1 reviewed p.E93* 1.000 58 0% 117 28.2% 1 0% - - - NULL KCNAB2 8514 genome.wustl.edu 37 1 6142305 6142305 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003636.2 +1 reviewed p.F84 0.987 92 0% 124 28.2% 17 11.7% - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase CHD5 26038 genome.wustl.edu 37 1 6186679 6186679 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015557.1 -1 provisional p.R1344H 1.000 41 0% 91 36.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1087 CHD5 26038 genome.wustl.edu 37 1 6195406 6195406 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015557.1 -1 provisional p.K918N 1.000 38 0% 109 36.7% 0 - possibly_damaging(0.95) deleterious(0.03) deleterious(0.758) HMMPfam_SNF2_N CHD5 26038 genome.wustl.edu 37 1 6196633 6196633 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015557.1 -1 provisional p.Q880H 1.000 100 0% 153 32.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 GPR153 387509 genome.wustl.edu 37 1 6310578 6310578 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207370.2 -1 validated p.E362D 0.999 31 0% 69 18.8% 1 0% benign(0) tolerated(0.35) neutral(0.021) NULL DNAJC11 55735 genome.wustl.edu 37 1 6711655 6711655 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018198.3 -1 validated p.F213C 1.000 134 0% 234 29.5% 56 39.2% possibly_damaging(0.654) tolerated(0.18) neutral(0.286) NULL CAMTA1 23261 genome.wustl.edu 37 1 7700578 7700578 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015215.1 +1 validated p.T210M 1.000 52 0% 75 32% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TNFRSF9 3604 genome.wustl.edu 37 1 7997762 7997762 + Missense_Mutation SNP C C T rs186372948 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001561.4 -1 reviewed p.R134Q 0.785 134 0% 223 33.6% 4 0% benign(0.272) tolerated(0.41) neutral(0.044) HMMSmart_TNFR SLC2A5 6518 genome.wustl.edu 37 1 9107748 9107748 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003039.2 -1 validated p.A113 0.005 256 0% 212 36.8% 8 0% - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter H6PD 9563 genome.wustl.edu 37 1 9324568 9324568 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004285.3 +1 reviewed p.I672 0.620 6 0.000 30 0.200 19 31.5% - - - HMMPfam_Glucosamine_iso,superfamily_SSF100950 C1orf200 644997 genome.wustl.edu 37 1 9714032 9714032 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000377320 -1 known p.V103 0.072 94 0% 133 31.6% 0 - - - - NULL UBE4B 10277 genome.wustl.edu 37 1 10190565 10190565 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105562.1 +1 reviewed p.S568Y 1.000 119 0% 87 34.5% 14 57.1% possibly_damaging(0.885) deleterious(0.04) deleterious(0.695) NULL KIF1B 23095 genome.wustl.edu 37 1 10364025 10364025 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183416.3 +1 reviewed p.R928W 0.978 52 0% 31 22.6% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIF1B 23095 genome.wustl.edu 37 1 10380183 10380183 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015074.3 +1 reviewed p.E687A 1.000 111 0% 108 26.9% 2 0% benign(0.221) tolerated(0.79) neutral(0.023) NULL CORT 1325 genome.wustl.edu 37 1 10510156 10510156 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001302.3 +1 reviewed p.R9I 0.025 56 0% 112 35.7% 2 50% unknown(0) - - NULL APITD1 378708 genome.wustl.edu 37 1 10511634 10511634 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198544.2 +1 reviewed p.T159 1.000 42 0% 58 13.8% 3 33.3% - - - HMMPfam_Somatostatin MTOR 2475 genome.wustl.edu 37 1 11184573 11184573 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004958.3 -1 reviewed p.S2215Y 1.000 145 0% 203 31% 132 43.9% benign(0.125) deleterious(0.01) neutral(0.416) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like,superfamily_ARM-type_fold MTOR 2475 genome.wustl.edu 37 1 11194485 11194485 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004958.3 -1 reviewed p.T1723 0.972 112 0% 128 27.3% 76 53.9% - - - HMMPfam_FAT,superfamily_ARM-type_fold PTCHD2 57540 genome.wustl.edu 37 1 11594593 11594593 + Missense_Mutation SNP C C T rs140072373 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000304391 +1 known p.R64C 0.998 32 0% 63 34.9% 24 37.5% unknown(0) - - NULL FBXO2 26232 genome.wustl.edu 37 1 11709214 11709214 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012168.4 -1 reviewed p.N229T 0.995 22 0% 46 34.8% 14 50% benign(0.121) tolerated(0.55) neutral(0.017) HMMPfam_FBA,superfamily_Galactose-binding domain-like FBXO44 93611 genome.wustl.edu 37 1 11718436 11718436 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001014765.1 +1 reviewed p.F126 1.000 101 0% 192 35.4% 17 23.5% - - - HMMPfam_FBA,superfamily_Galactose-binding domain-like FBXO6 26270 genome.wustl.edu 37 1 11733419 11733419 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018438.5 +1 reviewed p.E199K 0.980 53 0% 70 32.9% 67 28.3% benign(0.005) tolerated(0.54) neutral(0.007) HMMPfam_FBA,superfamily_Galactose-binding domain-like C1orf187 374946 genome.wustl.edu 37 1 11772431 11772431 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198545.3 +1 validated p.N264 0.019 38 0% 65 27.7% 2 0% - - - NULL MTHFR 4524 genome.wustl.edu 37 1 11860307 11860307 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005957.4 -1 reviewed p.R183L 1.000 133 0.8% 177 39.5% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MTHFR,superfamily_FAD-linked oxidoreductase CLCN6 1185 genome.wustl.edu 37 1 11897112 11897112 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001286.2 +1 reviewed p.K679N 1.000 40 0% 57 40.4% 17 41.1% possibly_damaging(0.826) tolerated(0.08) deleterious(0.613) HMMPfam_CBS VPS13D 55187 genome.wustl.edu 37 1 12395858 12395858 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015378.2 +1 reviewed p.S2842L 1.000 121 0% 31 29% 5 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL VPS13D 55187 genome.wustl.edu 37 1 12415988 12415988 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015378.2 +1 reviewed p.E3238* 1.000 112 0% 70 37.1% 9 44.4% - - - NULL PRAMEF12 390999 genome.wustl.edu 37 1 12835246 12835246 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080830.1 +1 provisional p.R79Q 0.000 92 0% 48 29.2% 0 - benign(0) tolerated(1) - superfamily_SSF52047 PRAMEF11 440560 genome.wustl.edu 37 1 12885009 12885009 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000331684 -1 known p.L368V 0.000 192 0% 80 30% 0 - benign(0.235) tolerated(0.08) neutral(0.324) superfamily_SSF52047 PRAMEF4 400735 genome.wustl.edu 37 1 12939766 12939766 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009611.2 -1 validated p.L346I 0.001 203 0% 91 11% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF52047 PRAMEF18 391003 genome.wustl.edu 37 1 13475258 13475258 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099850.1 -1 validated p.L291I 0.012 114 0% 81 32.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF52047 PRDM2 7799 genome.wustl.edu 37 1 14106627 14106627 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012231.4 +1 reviewed p.S779 0.973 63 0% 45 20% 6 33.3% - - - NULL FHAD1 114827 genome.wustl.edu 37 1 15627773 15627773 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052929.1 +1 provisional p.D251N 1.000 52 0% 70 28.6% 1 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL FHAD1 114827 genome.wustl.edu 37 1 15684770 15684770 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000444385 +1 known p.R206K 0.108 72 0% 47 25.5% 1 0% - - - NULL EFHD2 79180 genome.wustl.edu 37 1 15736734 15736734 + Missense_Mutation SNP C C A rs12131549 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024329.5 +1 validated p.F89L 1.000 12 0% 31 45.2% 95 26.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF47473 EFHD2 79180 genome.wustl.edu 37 1 15753729 15753729 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000445566 +1 known p.R83* 1.000 26 0% 57 40.4% 154 21.4% - - - NULL PLEKHM2 23207 genome.wustl.edu 37 1 16060342 16060342 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015164.2 +1 validated p.F991L 0.997 45 0% 70 35.7% 108 35.1% benign(0.021) tolerated(1) neutral(0.001) NULL SPEN 23013 genome.wustl.edu 37 1 16237756 16237756 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015001.2 +1 reviewed p.F401L 1.000 85 0% 51 39.2% 9 33.3% possibly_damaging(0.638) tolerated(0.1) deleterious(0.510) HMMSmart_RRM,superfamily_SSF54928 SPEN 23013 genome.wustl.edu 37 1 16257460 16257460 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015001.2 +1 reviewed p.S1575 0.000 115 0% 94 36.2% 8 37.5% - - - NULL NBPF1 55672 genome.wustl.edu 37 1 16890499 16890499 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017940.3 -1 predicted p.L1104R 0.001 911 0% 356 11.8% 23 17.3% - - - NULL NBPF1 55672 genome.wustl.edu 37 1 16913590 16913590 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017940.3 -1 predicted p.E245* 0.001 618 0% 403 16.4% 10 10% - - - NULL MST1P9 11223 genome.wustl.edu 37 1 17087480 17087480 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_002729.2 -1 validated NULL 0.994 190 0% 336 11.6% 1 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) - PADI2 11240 genome.wustl.edu 37 1 17409058 17409058 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007365.2 -1 reviewed p.F380L 1.000 68 0% 70 40% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PAD,superfamily_SSF55909 PADI4 23569 genome.wustl.edu 37 1 17690187 17690187 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012387.2 +1 reviewed p.V643 1.000 34 0% 40 20% 0 - - - - HMMPfam_PAD,superfamily_Pentein RCC2 55920 genome.wustl.edu 37 1 17749329 17749329 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136204.1 -1 validated p.R176Q 1.000 71 0% 116 29.3% 208 43.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RCC1,superfamily_RCC1/BLIP-II ARHGEF10L 55160 genome.wustl.edu 37 1 18014184 18014184 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018125.3 +1 validated p.E1042D 1.000 64 0% 82 35.4% 62 24.1% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_WD40 repeat-like ACTL8 81569 genome.wustl.edu 37 1 18152602 18152602 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030812.2 +1 validated p.S230I 0.000 38 0% 38 21.1% 0 - possibly_damaging(0.74) deleterious(0.03) deleterious(0.635) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 PAX7 5081 genome.wustl.edu 37 1 19027222 19027222 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002584.2 +1 reviewed p.L288M 1.000 24 0% 39 33.3% 0 - benign(0.155) tolerated(0.5) neutral(0.024) NULL ALDH4A1 8659 genome.wustl.edu 37 1 19199351 19199351 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003748.3 -1 reviewed p.A560 0.020 43 0% 81 30.9% 37 40.5% - - - NULL IFFO2 126917 genome.wustl.edu 37 1 19243510 19243510 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136265.1 -1 validated p.K330N 0.985 131 0% 211 36% 3 33.3% probably_damaging(1) tolerated(0.28) deleterious(0.531) HMMPfam_Filament UBR4 23352 genome.wustl.edu 37 1 19500089 19500089 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020765.2 -1 validated p.F1003L 0.997 87 0% 46 15.2% 9 22.2% probably_damaging(0.971) deleterious(0.02) deleterious(0.796) NULL HTR6 3362 genome.wustl.edu 37 1 20005176 20005176 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000871.1 +1 provisional p.F277L 1.000 46 0% 79 34.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 HTR6 3362 genome.wustl.edu 37 1 20005445 20005445 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000871.1 +1 provisional p.D303N 1.000 75 0% 149 36.2% 0 - benign(0.307) tolerated(0.2) neutral(0.145) HMMPfam_7tm_1,superfamily_SSF81321 RNF186 54546 genome.wustl.edu 37 1 20141514 20141514 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019062.1 -1 provisional p.A27 0.000 26 0% 21 33.3% 4 50% - - - NULL PLA2G2E 30814 genome.wustl.edu 37 1 20246880 20246880 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014589.1 -1 provisional p.R117C 0.936 52 0% 77 36.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2 VWA5B1 127731 genome.wustl.edu 37 1 20639336 20639336 + Silent SNP C C T rs182617737 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039500.2 +1 validated p.F49 0.997 28 0% 37 27% 0 - - - - NULL SH2D5 400745 genome.wustl.edu 37 1 21052436 21052436 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001103161.1 -1 validated p.F123V 1.000 33 0% 82 30.5% 0 - possibly_damaging(0.907) deleterious(0) deleterious(0.805) superfamily_SSF50729 HP1BP3 50809 genome.wustl.edu 37 1 21076227 21076227 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016287.3 -1 validated p.S377Y 1.000 108 0% 95 23.2% 68 38.2% probably_damaging(0.992) tolerated(0.7) neutral(0.450) "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" HP1BP3 50809 genome.wustl.edu 37 1 21106929 21106929 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016287.3 -1 validated p.A2V 1.000 74 0% 74 27% 41 21.9% possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL NBPF3 84224 genome.wustl.edu 37 1 21804666 21804666 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032264.2 +1 validated p.A341V 0.001 93 0% 55 29.1% 0 - benign(0) tolerated(1) - HMMPfam_DUF1220 NBPF3 84224 genome.wustl.edu 37 1 21808158 21808158 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032264.2 +1 validated p.S501L 0.003 149 0% 167 22.2% 2 0% benign(0.035) tolerated(0.18) neutral(0.058) HMMPfam_DUF1220 RAP1GAP 5909 genome.wustl.edu 37 1 21938262 21938262 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145658.1 -1 validated p.F284 1.000 143 0% 229 33.2% 20 35% - - - HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) USP48 84196 genome.wustl.edu 37 1 22079085 22079085 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032236.5 -1 reviewed p.Q200H 0.999 172 0% 97 23.7% 17 35.2% possibly_damaging(0.827) deleterious(0.01) deleterious(0.720) HMMPfam_UCH,superfamily_Cysteine proteinases HSPG2 3339 genome.wustl.edu 37 1 22198834 22198834 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000374695 -1 known p.F1356L 1.000 60 0% 139 31.7% 24 41.6% probably_damaging(0.998) tolerated(0.47) deleterious(0.485) superfamily_Concanavalin A-like lectins/glucanases HSPG2 3339 genome.wustl.edu 37 1 22203084 22203084 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000374695 -1 known p.R916Q 0.000 81 1.2% 153 15% 14 14.2% benign(0) tolerated(0.83) neutral(0.001) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin C1QC 714 genome.wustl.edu 37 1 22970666 22970666 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114101.1 +1 reviewed p.Y50 0.442 25 0% 22 36.4% 311 0.3% - - - NULL C1QB 713 genome.wustl.edu 37 1 22987339 22987339 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000491.3 +1 reviewed p.F74 0.000 32 0% 32 31.2% 255 0% - - - HMMPfam_Collagen EPHB2 2048 genome.wustl.edu 37 1 23110911 23110911 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004442.6 +1 reviewed p.E51D 1.000 66 0% 71 29.6% 12 83.3% benign(0.001) tolerated(0.26) neutral(0.034) HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like HTR1D 3352 genome.wustl.edu 37 1 23520161 23520161 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000864.4 -1 validated p.E184D 1.000 81 0% 82 22% 0 - benign(0.007) tolerated(0.58) neutral(0.005) HMMPfam_7tm_1,superfamily_SSF81321 HNRNPR 10236 genome.wustl.edu 37 1 23637776 23637776 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102398.1 -1 reviewed p.E406* 1.000 206 0% 193 18.1% 157 2.5% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 ASAP3 55616 genome.wustl.edu 37 1 23782492 23782492 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017707.3 -1 reviewed p.R77Q 0.852 125 0% 87 31% 4 50% possibly_damaging(0.695) tolerated(0.17) neutral(0.308) NULL FUCA1 2517 genome.wustl.edu 37 1 24180867 24180867 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000147.4 -1 reviewed p.E318* 0.008 47 0% 103 27.2% 88 0% - - - HMMPfam_Alpha_L_fucos,superfamily_Glyco_hydro_cat CNR2 1269 genome.wustl.edu 37 1 24201120 24201120 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001841.2 -1 reviewed p.E330* 0.214 90 0% 122 25.4% 0 - - - - superfamily_SSF81321 CNR2 1269 genome.wustl.edu 37 1 24201401 24201401 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001841.2 -1 reviewed p.R236Q 1.000 53 0% 68 36.8% 2 0% probably_damaging(0.992) tolerated(0.53) neutral(0.455) HMMPfam_7tm_1,superfamily_SSF81321 MYOM3 127294 genome.wustl.edu 37 1 24410888 24410888 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000413341 -1 known p.F337L 0.278 106 0% 118 26.3% 0 - - - - NULL IL22RA1 58985 genome.wustl.edu 37 1 24448199 24448199 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021258.2 -1 reviewed p.P274L 0.992 57 0% 40 42.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NIPAL3 57185 genome.wustl.edu 37 1 24771720 24771720 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020448.4 +1 validated p.P127L 0.998 225 0% 143 33.6% 18 55.5% probably_damaging(0.991) tolerated(0.66) neutral(0.447) HMMPfam_DUF803 SRRM1 10250 genome.wustl.edu 37 1 24996003 24996003 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005839.3 +1 validated p.R710I 1.000 93 0% 100 31% 84 44% unknown(0) deleterious(0.03) - NULL STMN1 3925 genome.wustl.edu 37 1 26227507 26227507 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000374292 -1 known p.N114T 0.934 318 0% 442 29.4% 640 33.2% - - - HMMPfam_Stathmin ENSG00000207237 0 genome.wustl.edu 37 1 26290696 26290696 + RNA SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384508 +1 novel NULL 0.005 49 0% 72 15.3% 0 - - - - - SLC30A2 7780 genome.wustl.edu 37 1 26365708 26365708 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004434.1 -1 validated p.I354 0.113 90 0% 176 30.7% 0 - - - - HMMPfam_Cation_efflux PDIK1L 149420 genome.wustl.edu 37 1 26448822 26448822 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152835.3 +1 validated p.E260D 1.000 86 0% 68 30.9% 7 85.7% benign(0.001) tolerated(0.62) neutral(0.004) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CATSPER4 378807 genome.wustl.edu 37 1 26526474 26526474 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198137.1 +1 validated p.I304 0.953 97 0% 135 35.6% 1 100% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CEP85 64793 genome.wustl.edu 37 1 26581776 26581776 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022778.2 +1 provisional p.S108Y 0.845 244 0% 158 32.9% 7 28.5% possibly_damaging(0.837) deleterious(0.01) deleterious(0.725) NULL CEP85 64793 genome.wustl.edu 37 1 26595978 26595978 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022778.2 +1 provisional p.E508K 0.987 63 0% 45 51.1% 9 44.4% benign(0.059) tolerated(0.62) neutral(0.008) NULL AIM1L 55057 genome.wustl.edu 37 1 26658052 26658052 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000308182 -1 known p.A479V 0.915 54 0% 102 27.5% 3 66.6% - - - HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like ZNF683 257101 genome.wustl.edu 37 1 26691551 26691551 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114759.1 -1 validated p.Q162H 0.798 142 0% 162 31.5% 3 0% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL ZNF683 257101 genome.wustl.edu 37 1 26691592 26691592 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114759.1 -1 validated p.A149S 0.027 124 0% 141 33.3% 2 0% benign(0.007) tolerated(0.66) neutral(0.003) NULL DHDDS 79947 genome.wustl.edu 37 1 26759441 26759441 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024887.2 +1 validated p.S2* 1.000 178 0% 331 31.1% 28 50% - - - NULL HMGN2 3151 genome.wustl.edu 37 1 26801609 26801609 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005517.3 +1 validated p.Q81H 1.000 215 0% 391 26.3% 432 34.7% possibly_damaging(0.677) deleterious(0) deleterious(0.685) HMMPfam_HMG14_17,HMMSmart_HMG17 SFN 2810 genome.wustl.edu 37 1 27189931 27189931 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006142.3 +1 validated p.E76 1.000 54 0% 83 25.3% 21 47.6% - - - HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein C1orf172 126695 genome.wustl.edu 37 1 27277965 27277965 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152365.2 -1 validated p.R303C 1.000 37 0% 70 38.6% 65 43% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WASF2 10163 genome.wustl.edu 37 1 27739149 27739149 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006990.2 -1 reviewed p.P247 0.994 215 0% 228 26.8% 58 22.4% - - - NULL AHDC1 27245 genome.wustl.edu 37 1 27875270 27875270 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029882.2 -1 validated p.W1119* 1.000 14 0% 26 34.6% 38 31.5% - - - NULL C1orf38 9473 genome.wustl.edu 37 1 28209251 28209251 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000456990 +1 known p.S220F 0.015 85 0% 75 36% 13 7.6% - - - NULL PTAFR 5724 genome.wustl.edu 37 1 28477281 28477281 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000952.4 -1 validated p.I84M 0.745 161 0% 169 27.8% 11 0% possibly_damaging(0.654) tolerated(0.27) neutral(0.264) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MED18 54797 genome.wustl.edu 37 1 28661469 28661469 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127350.1 +1 validated p.K205N 0.993 39 0% 28 35.7% 10 50% possibly_damaging(0.655) deleterious(0.01) deleterious(0.636) HMMPfam_Med18 EPB41 2035 genome.wustl.edu 37 1 29391556 29391556 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203343.2 +1 reviewed p.K601N 1.000 83 0% 80 28.7% 22 40.9% benign(0.384) deleterious(0.01) deleterious(0.528) HMMPfam_SAB EPB41 2035 genome.wustl.edu 37 1 29424394 29424394 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203343.2 +1 reviewed p.D665Y 1.000 86 0% 77 26% 33 33.3% possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) HMMPfam_4_1_CTD MECR 51102 genome.wustl.edu 37 1 29533290 29533290 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016011.2 -1 validated p.F178L 0.995 73 0% 56 23.2% 45 33.3% probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains MECR 51102 genome.wustl.edu 37 1 29543117 29543117 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016011.2 -1 validated p.D86G 1.000 146 0% 157 25.5% 36 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GroES-like,HMMPfam_ADH_N PTPRU 10076 genome.wustl.edu 37 1 29606106 29606106 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005704.3 +1 reviewed p.R568W 1.000 92 0% 149 25.5% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRU 10076 genome.wustl.edu 37 1 29631892 29631892 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005704.3 +1 reviewed p.P934 0.998 117 0% 170 37.6% 20 45% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRU 10076 genome.wustl.edu 37 1 29647257 29647257 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005704.3 +1 reviewed p.D1260N 1.000 40 0% 58 34.5% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II FABP3 2170 genome.wustl.edu 37 1 31842265 31842265 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004102.3 -1 reviewed p.F71 0.452 549 0% 566 35% 26 11.5% - - - HMMPfam_Lipocalin,superfamily_Lipocalins COL16A1 1307 genome.wustl.edu 37 1 32158081 32158081 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001856.3 -1 reviewed p.G396 0.985 119 0% 184 35.3% 2 0% - - - HMMPfam_Collagen BAI2 576 genome.wustl.edu 37 1 32198584 32198584 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001703.2 -1 reviewed p.L1205M 1.000 35 0% 62 25.8% 8 37.5% possibly_damaging(0.693) tolerated(0.07) deleterious(0.567) HMMPfam_7tm_2 KHDRBS1 10657 genome.wustl.edu 37 1 32497146 32497146 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006559.1 +1 provisional p.L177I 0.989 142 0% 138 22.5% 115 23.4% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) CCDC28B 79140 genome.wustl.edu 37 1 32667639 32667639 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024296.3 +1 reviewed p.G35S 1.000 35 0% 77 32.5% 11 54.5% benign(0.273) deleterious(0.04) neutral(0.378) NULL EIF3I 8668 genome.wustl.edu 37 1 32696777 32696777 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003757.2 +1 validated p.E320K 1.000 130 0% 157 25.5% 391 30.6% benign(0.003) tolerated(0.11) neutral(0.272) NULL ZBTB8B 728116 genome.wustl.edu 37 1 32950888 32950888 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145720.1 +1 provisional p.E453* 1.000 87 0% 70 30% 2 0% - - - NULL PHC2 1912 genome.wustl.edu 37 1 33790594 33790594 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198040.2 -1 reviewed p.R817C 1.000 66 0% 45 35.6% 115 35.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain CSMD2 114784 genome.wustl.edu 37 1 33988938 33988938 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052896.3 -1 validated p.F3349C 1.000 188 0% 221 38.9% 0 - benign(0.116) deleterious(0.01) neutral(0.415) NULL CSMD2 114784 genome.wustl.edu 37 1 34038274 34038274 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052896.3 -1 validated p.P2534S 1.000 94 0% 63 25.4% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34090742 34090742 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052896.3 -1 validated p.S1763 0.240 48 0% 55 25.5% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain C1orf94 84970 genome.wustl.edu 37 1 34666496 34666496 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134734.1 +1 validated p.S378* 0.004 53 0% 41 36.6% 0 - - - - NULL GJB5 2709 genome.wustl.edu 37 1 35223084 35223084 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005268.2 +1 provisional p.F51 0.394 132 0% 135 36.3% 0 - - - - HMMPfam_Connexin,HMMSmart_CNX GJB5 2709 genome.wustl.edu 37 1 35223665 35223665 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005268.2 +1 provisional p.S245L 0.479 87 0% 128 36.7% 0 - benign(0) deleterious(0) neutral(0.445) NULL ZMYM6 9204 genome.wustl.edu 37 1 35454332 35454332 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007167.3 -1 validated p.N784S 1.000 69 0% 130 12.3% 2 50% benign(0.008) tolerated(0.49) neutral(0.011) NULL ZMYM6 9204 genome.wustl.edu 37 1 35469571 35469571 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007167.3 -1 validated p.D664Y 0.999 146 0% 88 22.7% 11 63.6% possibly_damaging(0.688) deleterious(0.01) deleterious(0.651) NULL ZMYM6 9204 genome.wustl.edu 37 1 35474440 35474440 + Silent SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007167.3 -1 validated p.P526 0.892 147 0% 113 31% 4 25% - - - HMMPfam_zf-FCS,HMMSmart_SM00746 ZMYM1 79830 genome.wustl.edu 37 1 35577418 35577418 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024772.3 +1 validated p.S336Y 0.976 277 0% 330 28.5% 7 14.2% benign(0) deleterious(0.02) neutral(0.383) NULL ZMYM1 79830 genome.wustl.edu 37 1 35578872 35578872 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024772.3 +1 validated p.Q481* 1.000 53 0% 61 26.2% 3 66.6% - - - HMMSmart_ZnF_TTF ZMYM1 79830 genome.wustl.edu 37 1 35579062 35579062 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024772.3 +1 validated p.S544L 0.925 59 0% 72 30.6% 0 - benign(0.273) deleterious(0) deleterious(0.474) NULL ZMYM1 79830 genome.wustl.edu 37 1 35579724 35579724 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024772.3 +1 validated p.R765* 0.760 94 0% 105 34.3% 3 33.3% - - - NULL SFPQ 6421 genome.wustl.edu 37 1 35652825 35652825 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005066.2 -1 validated p.G615R 1.000 199 0% 299 28.4% 533 37.5% probably_damaging(0.981) tolerated(0.35) neutral(0.446) superfamily_RNA-binding domain RBD ZMYM4 9202 genome.wustl.edu 37 1 35881153 35881153 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005095.2 +1 validated p.L1383I 1.000 127 0% 90 23.3% 46 36.9% possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL ZMYM4 9202 genome.wustl.edu 37 1 35881243 35881243 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005095.2 +1 validated p.T1413A 1.000 121 0% 67 35.8% 53 41.5% possibly_damaging(0.946) tolerated(0.32) neutral(0.414) NULL KIAA0319L 79932 genome.wustl.edu 37 1 35900677 35900677 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024874.4 -1 reviewed p.K990Q 0.255 50 0% 43 23.3% 43 41.8% possibly_damaging(0.638) deleterious(0.04) deleterious(0.573) NULL KIAA0319L 79932 genome.wustl.edu 37 1 35928231 35928231 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024874.4 -1 reviewed p.D429Y 1.000 79 0% 50 28% 12 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00089,superfamily_PKD domain KIAA0319L 79932 genome.wustl.edu 37 1 35944742 35944742 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000470388 -1 known p.E72* 0.574 150 0% 93 30.1% 25 16% - - - NULL C1orf216 127703 genome.wustl.edu 37 1 36181448 36181448 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152374.1 -1 predicted p.R159C 1.000 108 0% 194 14.4% 12 16.6% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL CLSPN 63967 genome.wustl.edu 37 1 36227667 36227667 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022111.2 -1 reviewed p.R276I 1.000 228 0% 193 14.5% 5 0% benign(0.418) deleterious(0) deleterious(0.580) NULL CLSPN 63967 genome.wustl.edu 37 1 36228868 36228868 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022111.2 -1 reviewed p.D213Y 1.000 216 0% 220 12.3% 2 0% possibly_damaging(0.933) deleterious(0) deleterious(0.824) NULL EIF2C3 192669 genome.wustl.edu 37 1 36505935 36505935 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024852.2 +1 reviewed p.R689* 1.000 96 0% 52 32.7% 2 0% - - - HMMPfam_Piwi,superfamily_RNaseH_fold MAP7D1 55700 genome.wustl.edu 37 1 36642377 36642377 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018067.3 +1 provisional p.K438M 1.000 32 0% 56 33.9% 119 37.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL OSCP1 127700 genome.wustl.edu 37 1 36886190 36886190 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000468441 -1 known p.L20P 0.998 118 0% 86 36% 7 57.1% - - - NULL GRIK3 2899 genome.wustl.edu 37 1 37291209 37291209 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000831.3 -1 reviewed p.I583 0.739 90 0% 99 24.2% 0 - - - - HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 ZC3H12A 80149 genome.wustl.edu 37 1 37947216 37947216 + Missense_Mutation SNP C C T rs141438153 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025079.2 +1 validated p.R200W 0.870 128 0% 175 33.7% 11 27.2% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL RSPO1 284654 genome.wustl.edu 37 1 38079954 38079954 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001038633.2 -1 reviewed p.K113T 1.000 45 0% 44 38.6% 0 - probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMSmart_SM00261,superfamily_Growth factor receptor domain EPHA10 284656 genome.wustl.edu 37 1 38185187 38185187 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099439.1 -1 validated p.K885N 1.000 67 0% 73 27.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) INPP5B 3633 genome.wustl.edu 37 1 38355260 38355260 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005540.2 -1 reviewed p.E256* 1.000 165 0% 162 26.5% 4 25% - - - superfamily_DNase I-like UTP11L 51118 genome.wustl.edu 37 1 38483411 38483411 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016037.3 +1 validated p.F66C 1.000 141 0% 189 12.2% 38 18.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Utp11 POU3F1 5453 genome.wustl.edu 37 1 38511504 38511504 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002699.3 -1 validated p.K304N 1.000 35 0% 53 13.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA RRAGC 64121 genome.wustl.edu 37 1 39305238 39305238 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022157.2 -1 provisional p.R396Q 0.888 94 0% 80 28.7% 58 39.6% benign(0.032) deleterious(0.01) neutral(0.407) NULL RRAGC 64121 genome.wustl.edu 37 1 39305279 39305279 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022157.2 -1 provisional p.S382 0.957 110 0% 83 31.3% 55 45.4% - - - NULL GJA9 81025 genome.wustl.edu 37 1 39340817 39340817 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030772.3 -1 provisional p.E318D 0.027 193 0% 298 32.9% 0 - benign(0.075) tolerated(0.06) neutral(0.328) NULL GJA9 81025 genome.wustl.edu 37 1 39341160 39341160 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030772.3 -1 provisional p.R204I 1.000 176 0% 251 16.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC MACF1 23499 genome.wustl.edu 37 1 39760758 39760758 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012090.3 +1 reviewed p.R737H 0.997 60 0% 38 10.5% 0 - benign(0.025) deleterious(0.05) neutral(0.346) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39800847 39800847 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033044.2 +1 reviewed p.E1303* 0.002 86 0% 55 41.8% 1 0% - - - superfamily_SSF75399 MACF1 23499 genome.wustl.edu 37 1 39801016 39801016 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033044.2 +1 reviewed p.I1359S 0.040 53 0% 29 34.5% 0 - benign(0) - - NULL MACF1 23499 genome.wustl.edu 37 1 39801383 39801383 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033044.2 +1 reviewed p.I1481M 0.005 48 0% 37 10.8% 0 - benign(0.163) - - NULL MACF1 23499 genome.wustl.edu 37 1 39823059 39823059 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033044.2 +1 reviewed p.E2253* 1.000 73 0% 53 28.3% 5 0% - - - NULL MACF1 23499 genome.wustl.edu 37 1 39827170 39827170 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033044.2 +1 reviewed p.E2638K 0.000 44 0% 27 44.4% 3 66.6% benign(0) tolerated(0.97) - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MACF1 23499 genome.wustl.edu 37 1 39835768 39835768 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000372925 +1 known p.E1407* 1.000 90 0% 87 37.9% 0 - possibly_damaging(0.66) tolerated(0.22) neutral(0.275) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39854019 39854019 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033044.2 +1 reviewed p.I3609V 1.000 95 0% 55 34.5% 5 40% benign(0.001) tolerated(0.46) neutral(0.012) HMMSmart_SPEC,superfamily_Spectrin KIAA0754 643314 genome.wustl.edu 37 1 39877219 39877219 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015038.1 +1 predicted p.L428I 0.000 127 0% 250 27.2% 1 0% unknown(0) tolerated(0.8) - NULL KIAA0754 643314 genome.wustl.edu 37 1 39877556 39877556 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015038.1 +1 predicted p.F540C 0.882 127 0% 296 30.7% 1 0% unknown(0) tolerated(0.33) - NULL MACF1 23499 genome.wustl.edu 37 1 39888404 39888404 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000372925 +1 known p.R2378C 0.987 88 0% 75 32% 6 0% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39898741 39898741 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033044.2 +1 reviewed p.R4267* 1.000 179 0% 87 33.3% 9 22.2% - - - HMMPfam_Spectrin,HMMSmart_SPEC MACF1 23499 genome.wustl.edu 37 1 39913733 39913733 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033044.2 +1 reviewed p.D5109G 1.000 135 0% 100 28% 13 30.7% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin BMP8A 353500 genome.wustl.edu 37 1 39977443 39977443 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181809.3 +1 validated p.F180L 1.000 162 0% 297 11.8% 0 - benign(0.003) tolerated(0.31) neutral(0.027) HMMPfam_TGFb_propeptide RLF 6018 genome.wustl.edu 37 1 40701641 40701641 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012421.3 +1 validated p.L423V 0.998 147 0% 64 45.3% 1 100% benign(0.111) tolerated(0.53) neutral(0.016) NULL RLF 6018 genome.wustl.edu 37 1 40703059 40703059 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012421.3 +1 validated p.N895K 1.000 88 0% 38 23.7% 6 50% probably_damaging(0.995) tolerated(0.13) deleterious(0.710) NULL COL9A2 1298 genome.wustl.edu 37 1 40781333 40781333 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001852.3 -1 reviewed p.G27C 1.000 16 0% 19 47.4% 3 66.6% unknown(0) deleterious(0) - NULL ZNF643 65243 genome.wustl.edu 37 1 40928348 40928348 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000411995 +1 known p.E204* 0.002 69 0% 65 35.4% 2 50% benign(0.144) tolerated(0.21) neutral(0.056) NULL ZNF684 127396 genome.wustl.edu 37 1 41012870 41012870 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152373.3 +1 validated p.F292C 0.933 78 0% 46 30.4% 3 33.3% probably_damaging(0.995) tolerated(0.09) deleterious(0.754) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RIMS3 9783 genome.wustl.edu 37 1 41101665 41101665 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014747.2 -1 validated p.E94D 1.000 27 0% 68 22.1% 0 - possibly_damaging(0.472) deleterious(0.02) deleterious(0.539) NULL SCMH1 22955 genome.wustl.edu 37 1 41493986 41493986 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031694.2 -1 validated p.I621 0.993 32 0% 35 28.6% 76 43.4% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain EDN2 1907 genome.wustl.edu 37 1 41949789 41949789 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001956.3 -1 reviewed p.S50 1.000 18 0% 47 23.4% 13 15.3% - - - HMMPfam_Endothelin,HMMSmart_SM00272,PatternScan_ENDOTHELIN HIVEP3 59269 genome.wustl.edu 37 1 42047655 42047655 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024503.3 -1 validated p.V938 0.902 72 0% 53 26.4% 3 0% - - - NULL FOXJ3 22887 genome.wustl.edu 37 1 42654508 42654508 + Missense_Mutation SNP G G T rs58227404 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014947.3 -1 validated p.F515L 1.000 71 0% 79 26.6% 34 23.5% possibly_damaging(0.945) tolerated(0.25) neutral(0.426) NULL CCDC30 728621 genome.wustl.edu 37 1 43119566 43119566 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080850.2 +1 validated p.A740V 0.000 91 0% 84 33.3% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL CCDC30 728621 genome.wustl.edu 37 1 43119673 43119673 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080850.2 +1 validated p.E776* 0.001 87 0% 84 32.1% 0 - - - - NULL PPIH 10465 genome.wustl.edu 37 1 43130588 43130588 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006347.3 +1 reviewed p.F100V 1.000 122 0% 109 30.3% 78 43.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like YBX1 4904 genome.wustl.edu 37 1 43162438 43162438 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000436427 +1 known p.K210R 0.999 81 0% 90 17.8% 1561 39% - - - NULL MED8 112950 genome.wustl.edu 37 1 43853233 43853233 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052877.3 -1 reviewed p.F71L 1.000 194 0% 303 32.3% 40 37.5% benign(0) tolerated(1) - NULL SZT2 23334 genome.wustl.edu 37 1 43911655 43911655 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015284.2 +1 predicted p.K2073N 1.000 69 0% 99 14.1% 18 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL SZT2 23334 genome.wustl.edu 37 1 43913519 43913519 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015284.2 +1 predicted e51-1 1.000 51 0% 66 33.3% 8 62.5% - - - - ST3GAL3 6487 genome.wustl.edu 37 1 44201996 44201996 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174963.2 +1 reviewed p.G21 0.995 338 0% 241 22.8% 3 0% - - - NULL IPO13 9670 genome.wustl.edu 37 1 44432257 44432257 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014652.3 +1 reviewed p.R803Q 1.000 136 0% 181 36.5% 40 47.5% possibly_damaging(0.925) tolerated(0.08) deleterious(0.673) superfamily_ARM-type_fold PTCH2 8643 genome.wustl.edu 37 1 45294916 45294916 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003738.4 -1 reviewed p.A428 0.039 12 0% 24 41.7% 3 66.6% - - - HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain HECTD3 79654 genome.wustl.edu 37 1 45469790 45469790 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024602.5 -1 validated p.F763L 0.995 90 0% 128 31.2% 82 36.5% benign(0) tolerated(0.91) - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain TESK2 10420 genome.wustl.edu 37 1 45811115 45811115 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007170.2 -1 reviewed p.I371 1.000 40 0% 50 36% 7 28.5% - - - NULL TESK2 10420 genome.wustl.edu 37 1 45813597 45813597 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007170.2 -1 reviewed p.D206N 0.998 61 0% 62 35.5% 5 40% benign(0.406) tolerated(0.21) neutral(0.174) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NASP 4678 genome.wustl.edu 37 1 46081063 46081063 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172164.1 +1 reviewed p.E650K 1.000 90 0% 88 37.5% 186 45.6% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL CYP4A11 1579 genome.wustl.edu 37 1 47400176 47400176 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000778.3 -1 reviewed p.K282N 0.259 183 0% 113 9.7% 0 - benign(0.023) tolerated(0.43) neutral(0.014) HMMPfam_p450,superfamily_Cytochrome P450 TAL1 6886 genome.wustl.edu 37 1 47685510 47685510 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003189.2 -1 validated p.S293I 1.000 10 0% 30 26.7% 0 - possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL STIL 6491 genome.wustl.edu 37 1 47767391 47767391 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001048166.1 -1 reviewed p.R99C 1.000 136 0% 121 32.2% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CMPK1 51727 genome.wustl.edu 37 1 47838671 47838671 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016308.2 +1 validated p.F121L 1.000 142 0% 108 32.4% 73 47.9% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_ADK,PatternScan_ADENYLATE_KINASE,superfamily_SSF52540 RNF11 26994 genome.wustl.edu 37 1 51736866 51736866 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014372.4 +1 reviewed p.R113* 1.000 225 0% 119 29.4% 85 44.7% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box OSBPL9 114883 genome.wustl.edu 37 1 52238276 52238276 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_148909.1 +1 reviewed e14-1 1.000 187 0% 193 39.4% 0 - - - - - NRD1 4898 genome.wustl.edu 37 1 52272490 52272490 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002525.2 -1 validated p.D764Y 1.000 398 0% 213 28.2% 65 41.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Metalloenz_metal-bd NRD1 4898 genome.wustl.edu 37 1 52289395 52289395 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002525.2 -1 validated p.R435I 1.000 89 0% 41 41.5% 36 33.3% benign(0.023) tolerated(0.12) neutral(0.262) HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd TXNDC12 51060 genome.wustl.edu 37 1 52490196 52490196 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015913.2 -1 provisional p.R114Q 1.000 194 0% 204 32.4% 41 26.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thioredoxin-like ZFYVE9 9372 genome.wustl.edu 37 1 52704352 52704352 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004799.2 +1 reviewed p.K421 0.389 45 0% 24 29.2% 8 50% - - - NULL ORC1 4998 genome.wustl.edu 37 1 52861917 52861917 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004153.2 -1 reviewed p.A174 0.000 242 0% 191 31.4% 9 44.4% - - - NULL SCP2 6342 genome.wustl.edu 37 1 53443986 53443986 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002979.3 +1 reviewed p.E258* 1.000 217 0% 120 29.2% 22 0% - - - NULL SCP2 6342 genome.wustl.edu 37 1 53446176 53446176 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002979.3 +1 reviewed p.E312K 1.000 165 0.6% 74 24.3% 29 3.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Thiolase_C,superfamily_Thiolase-like PODN 127435 genome.wustl.edu 37 1 53544344 53544344 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153703.3 +1 validated p.L436M 1.000 29 0% 60 33.3% 7 14.2% probably_damaging(0.996) tolerated(0.12) deleterious(0.722) superfamily_SSF52047 MAGOH 4116 genome.wustl.edu 37 1 53694592 53694592 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002370.2 -1 reviewed p.S98Y 1.000 139 0% 178 30.3% 137 42.3% benign(0.004) tolerated(0.05) neutral(0.345) HMMPfam_Mago_nashi,superfamily_Mago nashi protein TMEM48 55706 genome.wustl.edu 37 1 54266382 54266382 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018087.4 -1 validated p.K402N 0.529 133 0% 131 31.3% 21 47.6% benign(0.051) tolerated(0.16) neutral(0.062) HMMPfam_Ndc1_Nup YIPF1 54432 genome.wustl.edu 37 1 54332016 54332016 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018982.3 -1 provisional p.L230I 0.924 31 0% 24 37.5% 52 48% probably_damaging(0.997) tolerated(0.07) deleterious(0.785) HMMPfam_Yip1 TMEM59 9528 genome.wustl.edu 37 1 54511386 54511386 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004872.3 -1 provisional p.F123 0.985 156 0% 128 27.3% 484 38.4% - - - NULL USP24 23358 genome.wustl.edu 37 1 55557779 55557779 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015306.2 -1 validated p.Y1997* 0.091 176 0% 116 33.6% 6 16.6% - - - NULL USP24 23358 genome.wustl.edu 37 1 55565540 55565540 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015306.2 -1 validated p.I1598M 1.000 131 0% 63 42.9% 3 33.3% probably_damaging(0.961) tolerated(0.24) neutral(0.442) HMMPfam_UCH,superfamily_Cysteine proteinases USP24 23358 genome.wustl.edu 37 1 55612661 55612661 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015306.2 -1 validated p.A571T 1.000 214 0% 96 30.2% 5 60% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL PRKAA2 5563 genome.wustl.edu 37 1 57169786 57169786 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006252.3 +1 validated p.L311V 0.972 119 0% 92 31.5% 1 100% possibly_damaging(0.597) deleterious(0.02) deleterious(0.590) superfamily_Kinase_like C1orf168 199920 genome.wustl.edu 37 1 57258224 57258224 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004303.4 -1 validated p.P88T 0.004 184 0% 73 32.9% 0 - benign(0) tolerated(0.22) neutral(0.042) NULL DAB1 1600 genome.wustl.edu 37 1 57480926 57480926 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021080.3 -1 reviewed p.A358 0.991 38 0% 46 32.6% 0 - - - - NULL JUN 3725 genome.wustl.edu 37 1 59247894 59247894 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002228.3 -1 reviewed p.K283N 1.000 141 0% 219 37% 131 40.4% benign(0.422) deleterious(0) deleterious(0.582) HMMSmart_BRLZ,HMMPfam_bZIP_1 C1orf87 127795 genome.wustl.edu 37 1 60499180 60499180 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152377.1 -1 predicted p.R333C 0.722 241 0% 109 33.9% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_EF-hand L1TD1 54596 genome.wustl.edu 37 1 62672573 62672573 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019079.4 +1 validated p.K91N 0.002 40 0% 31 41.9% 0 - unknown(0) deleterious(0) - NULL DOCK7 85440 genome.wustl.edu 37 1 62923365 62923365 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033407.2 -1 validated p.A2044V 1.000 236 0% 157 29.9% 22 31.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ded_cyto DOCK7 85440 genome.wustl.edu 37 1 62941819 62941819 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000454575 -1 known p.R1044W 1.000 215 0.5% 250 29.2% 21 47.6% - - - NULL DOCK7 85440 genome.wustl.edu 37 1 63005328 63005328 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033407.2 -1 validated p.D1032G 1.000 74 0% 66 9.1% 14 7.1% probably_damaging(0.995) tolerated(0.15) deleterious(0.699) NULL DOCK7 85440 genome.wustl.edu 37 1 63027304 63027304 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033407.2 -1 validated p.S728L 1.000 81 0% 52 28.8% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANGPTL3 27329 genome.wustl.edu 37 1 63066790 63066790 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014495.2 +1 reviewed p.S215Y 0.833 127 0% 54 35.2% 0 - probably_damaging(0.959) deleterious(0.04) deleterious(0.752) NULL ATG4C 84938 genome.wustl.edu 37 1 63282296 63282296 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032852.2 +1 reviewed p.V71L 0.035 81 0% 50 40% 5 60% benign(0.002) tolerated(0.29) neutral(0.029) NULL FOXD3 27022 genome.wustl.edu 37 1 63789273 63789273 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012183.2 +1 reviewed p.F182V 1.000 52 0% 85 17.6% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 ALG6 29929 genome.wustl.edu 37 1 63872050 63872050 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013339.3 +1 reviewed p.E137* 1.000 248 0% 187 39% 7 42.8% - - - HMMPfam_Alg6_Alg8 ITGB3BP 23421 genome.wustl.edu 37 1 63919611 63919611 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014288.3 -1 provisional p.K154N 0.010 174 0% 90 30% 36 36.1% benign(0.399) deleterious(0.01) deleterious(0.534) HMMPfam_NRIF3 PGM1 5236 genome.wustl.edu 37 1 64095098 64095098 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002633.2 +1 reviewed p.I83 0.994 203 0% 90 27.8% 73 50.6% - - - HMMPfam_PGM_PMM_I,superfamily_Phosphoglucomutase first 3 domains RAVER2 55225 genome.wustl.edu 37 1 65296535 65296535 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018211.3 +1 validated p.R635I 1.000 108 0% 70 21.4% 10 30% possibly_damaging(0.849) tolerated(0.05) deleterious(0.671) NULL LEPR 3953 genome.wustl.edu 37 1 66036210 66036210 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002303.4 +1 reviewed p.R32I 0.967 147 0% 63 36.5% 0 - possibly_damaging(0.746) deleterious(0.02) deleterious(0.657) NULL LEPR 3953 genome.wustl.edu 37 1 66036295 66036295 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002303.4 +1 reviewed p.S60 0.000 156 0% 81 34.6% 2 0% - - - NULL LEPR 3953 genome.wustl.edu 37 1 66062194 66062194 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002303.4 +1 reviewed p.S256Y 1.000 144 0% 120 30% 11 27.2% possibly_damaging(0.753) tolerated(0.93) neutral(0.277) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LEPR 3953 genome.wustl.edu 37 1 66088647 66088647 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002303.4 +1 reviewed p.G886* 1.000 238 0% 141 35.5% 5 60% - - - NULL PDE4B 5142 genome.wustl.edu 37 1 66798193 66798193 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037341.1 +1 reviewed p.E213* 1.000 159 0% 79 24.1% 3 0% - - - NULL PDE4B 5142 genome.wustl.edu 37 1 66827368 66827368 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037341.1 +1 reviewed p.L304 1.000 127 0% 61 6.6% 3 0% - - - NULL TCTEX1D1 200132 genome.wustl.edu 37 1 67242082 67242082 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152665.2 +1 validated p.S111Y 0.998 153 0% 89 32.6% 0 - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_Tctex-1 INSL5 10022 genome.wustl.edu 37 1 67263855 67263855 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005478.3 -1 reviewed p.P83 0.000 102 0% 25 48% 0 - - - - HMMSmart_IlGF,superfamily_Insulin-like MIER1 57708 genome.wustl.edu 37 1 67436541 67436541 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020948.3 +1 validated p.D246Y 1.000 94 0% 47 27.7% 11 36.3% benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_ELM2 WLS 79971 genome.wustl.edu 37 1 68564357 68564357 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002292.2 -1 validated p.S530 0.000 124 0% 56 39.3% 30 26.6% - - - NULL RPE65 6121 genome.wustl.edu 37 1 68910558 68910558 + Missense_Mutation SNP C C T rs61752870 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000329.2 -1 reviewed p.R85H 1.000 43 0% 49 42.9% 0 - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_RPE65 LRRC7 57554 genome.wustl.edu 37 1 70257822 70257822 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020794.2 +1 validated p.E96* 1.000 121 0% 60 30% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like LRRC7 57554 genome.wustl.edu 37 1 70451979 70451979 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020794.2 +1 validated p.E243* 1.000 175 0% 55 20% 0 - - - - HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like LRRC7 57554 genome.wustl.edu 37 1 70482166 70482166 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020794.2 +1 validated p.F385L 1.000 253 0% 80 37.5% 0 - possibly_damaging(0.756) tolerated(0.08) deleterious(0.579) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like LRRC7 57554 genome.wustl.edu 37 1 70505248 70505248 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020794.2 +1 validated p.S1209R 0.904 79 0% 28 39.3% 0 - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL LRRC40 55631 genome.wustl.edu 37 1 70646777 70646777 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017768.4 -1 validated p.R218I 0.999 70 0% 30 33.3% 4 0% benign(0.009) tolerated(0.38) neutral(0.018) HMMPfam_LRR_1,superfamily_SSF52058 LRRC40 55631 genome.wustl.edu 37 1 70650530 70650530 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017768.4 -1 validated p.Q159* 1.000 359 0% 139 29.5% 13 7.6% - - - HMMPfam_LRR_1,superfamily_SSF52058 ANKRD13C 81573 genome.wustl.edu 37 1 70761923 70761923 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030816.4 -1 validated p.E315* 1.000 214 0% 177 29.4% 8 12.5% - - - NULL HHLA3 11147 genome.wustl.edu 37 1 70832129 70832129 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031693.2 +1 validated p.L55I 0.275 19 0% 27 22.2% 24 8.3% possibly_damaging(0.875) - - NULL CTH 1491 genome.wustl.edu 37 1 70877188 70877188 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001902.4 +1 reviewed p.E30D 1.000 53 0% 62 33.9% 3 33.3% benign(0.032) tolerated(0.98) neutral(0.002) HMMPfam_Cys_Met_Meta_PP,superfamily_PLP-dependent transferases CTH 1491 genome.wustl.edu 37 1 70887295 70887295 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001902.4 +1 reviewed p.K131N 1.000 234 0% 165 31.5% 2 50% benign(0.022) tolerated(0.15) neutral(0.242) HMMPfam_Cys_Met_Meta_PP,superfamily_PLP-dependent transferases PTGER3 5733 genome.wustl.edu 37 1 71328078 71328078 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000370934 -1 known p.E418K 0.000 128 0% 90 44.4% 0 - benign(0.003) - - NULL PTGER3 5733 genome.wustl.edu 37 1 71439999 71439999 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001126044.1 -1 reviewed p.W384R 1.000 145 0.7% 64 37.5% 1 0% benign(0.032) deleterious(0) neutral(0.446) NULL PTGER3 5733 genome.wustl.edu 37 1 71513050 71513050 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198718.1 -1 reviewed p.L71 1.000 13 0% 28 35.7% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 LRRIQ3 127255 genome.wustl.edu 37 1 74648256 74648256 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105659.1 -1 provisional p.R180Q 0.005 114 0% 72 31.9% 0 - possibly_damaging(0.582) tolerated(0.22) neutral(0.242) NULL TNNI3K 51086 genome.wustl.edu 37 1 74954882 74954882 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001112808.1 +1 validated p.E812K 0.994 66 0% 44 25% 0 - possibly_damaging(0.712) tolerated(0.32) neutral(0.282) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) C1orf173 127254 genome.wustl.edu 37 1 75037039 75037039 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002912.4 -1 validated p.S1452L 0.000 80 0% 53 32.1% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL C1orf173 127254 genome.wustl.edu 37 1 75072417 75072417 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002912.4 -1 validated p.S453P 0.003 269 0% 150 30% 0 - probably_damaging(0.99) tolerated(0.13) deleterious(0.694) NULL C1orf173 127254 genome.wustl.edu 37 1 75078489 75078489 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002912.4 -1 validated p.T335 0.792 85 0% 54 38.9% 0 - - - - NULL CRYZ 1429 genome.wustl.edu 37 1 75171991 75171991 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130042.1 -1 reviewed p.L327I 1.000 55 0% 35 31.4% 43 41.8% benign(0.282) tolerated(0.06) neutral(0.409) NULL LHX8 431707 genome.wustl.edu 37 1 75602349 75602349 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001933.1 +1 validated p.R27H 1.000 23 0% 71 32.4% 0 - probably_damaging(0.986) tolerated(0.22) deleterious(0.476) NULL LHX8 431707 genome.wustl.edu 37 1 75608952 75608952 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001933.1 +1 validated p.V180A 1.000 86 0% 98 22.4% 0 - probably_damaging(0.987) tolerated(0.45) neutral(0.449) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LHX8 431707 genome.wustl.edu 37 1 75622730 75622730 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001933.1 +1 validated p.T321 0.858 214 0% 93 24.7% 0 - - - - NULL MSH4 4438 genome.wustl.edu 37 1 76269502 76269502 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002440.2 +1 validated p.D111Y 0.028 98 0% 99 26.3% 0 - benign(0.417) deleterious(0.01) deleterious(0.540) NULL MSH4 4438 genome.wustl.edu 37 1 76355016 76355016 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002440.2 +1 validated p.E730K 1.000 70 0% 65 27.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 MSH4 4438 genome.wustl.edu 37 1 76363591 76363591 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002440.2 +1 validated e18-1 1.000 133 0% 80 31.2% 0 - - - - - MSH4 4438 genome.wustl.edu 37 1 76363690 76363690 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002440.2 +1 validated p.K818N 0.540 128 0% 82 29.3% 0 - benign(0.005) tolerated(0.25) neutral(0.037) HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 MSH4 4438 genome.wustl.edu 37 1 76363709 76363709 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002440.2 +1 validated p.E825* 1.000 104 0% 66 27.3% 0 - - - - HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 MSH4 4438 genome.wustl.edu 37 1 76378490 76378490 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002440.2 +1 validated p.R910Q 0.930 80 0% 45 31.1% 0 - benign(0.091) tolerated(0.27) neutral(0.040) NULL MSH4 4438 genome.wustl.edu 37 1 76378491 76378491 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002440.2 +1 validated p.R910 0.340 79 0% 44 36.4% 0 - - - - NULL AK5 26289 genome.wustl.edu 37 1 77763393 77763393 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174858.1 +1 reviewed p.T189A 1.000 159 0% 147 25.9% 0 - possibly_damaging(0.459) tolerated(0.2) neutral(0.200) HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases AK5 26289 genome.wustl.edu 37 1 77806116 77806116 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174858.1 +1 reviewed p.E252* 1.000 127 0% 71 31% 0 - - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM73A 374986 genome.wustl.edu 37 1 78338771 78338771 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198549.2 +1 predicted p.R549I 1.000 421 0% 670 30% 0 - possibly_damaging(0.805) deleterious(0.04) deleterious(0.652) HMMPfam_DUF2217 DNAJB4 11080 genome.wustl.edu 37 1 78470843 78470843 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007034.3 +1 provisional p.D17N 1.000 104 0% 51 9.8% 3 33.3% possibly_damaging(0.88) deleterious(0) deleterious(0.788) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain DNAJB4 11080 genome.wustl.edu 37 1 78478793 78478793 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007034.3 +1 provisional p.F90L 1.000 111 0% 71 29.6% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Chaperone J-domain PTGFR 5737 genome.wustl.edu 37 1 78959050 78959050 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000959.3 +1 reviewed p.L208M 1.000 157 0% 176 26.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 IFI44L 10964 genome.wustl.edu 37 1 79093951 79093951 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006820.2 +1 validated p.S117 0.000 90 0% 23 34.8% 5 0% - - - NULL IFI44 10561 genome.wustl.edu 37 1 79125147 79125147 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006417.4 +1 validated p.R331* 0.216 135 0% 53 20.8% 44 13.6% - - - superfamily_SSF52540 ENSG00000249107 0 genome.wustl.edu 37 1 79129543 79129543 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000513923 -1 known NULL 0.001 155 0% 91 37.4% 59 45.7% - - - - LPHN2 23266 genome.wustl.edu 37 1 82432215 82432215 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000449420 +1 known p.S621* 1.000 123 0% 120 35% 21 33.3% - - - NULL TTLL7 79739 genome.wustl.edu 37 1 84372116 84372116 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024686.4 -1 validated p.E675* 1.000 245 0% 71 29.6% 1 100% - - - NULL TTLL7 79739 genome.wustl.edu 37 1 84408211 84408211 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024686.4 -1 validated p.L220I 1.000 111 0% 48 35.4% 2 50% probably_damaging(0.967) tolerated(0.08) deleterious(0.709) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like DNASE2B 58511 genome.wustl.edu 37 1 84874135 84874135 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021233.2 +1 reviewed p.Y107H 1.000 126 0% 57 12.3% 0 - benign(0.327) deleterious(0) deleterious(0.547) HMMPfam_DNase_II RPF1 80135 genome.wustl.edu 37 1 84962014 84962014 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025065.6 +1 validated p.T323 1.000 128 0% 117 28.2% 43 37.2% - - - NULL SSX2IP 117178 genome.wustl.edu 37 1 85116179 85116179 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014021.3 -1 reviewed p.S512 0.207 77 0% 96 26% 20 45% - - - NULL MCOLN2 255231 genome.wustl.edu 37 1 85405376 85405376 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153259.2 -1 reviewed p.N324H 0.002 86 0% 38 39.5% 1 0% benign(0.008) tolerated(0.17) neutral(0.059) NULL MCOLN2 255231 genome.wustl.edu 37 1 85412774 85412774 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153259.2 -1 reviewed p.I263 0.971 312 0% 171 35.1% 0 - - - - NULL MCOLN3 55283 genome.wustl.edu 37 1 85498634 85498634 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018298.9 -1 validated p.F186V 0.999 263 0% 192 28.6% 0 - benign(0) tolerated(0.79) neutral(0.001) NULL WDR63 126820 genome.wustl.edu 37 1 85551539 85551539 + Missense_Mutation SNP G G A rs145219148 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145172.3 +1 validated p.R189Q 0.110 153 0% 81 37% 0 - probably_damaging(0.963) tolerated(0.1) deleterious(0.692) superfamily_WD40 repeat-like WDR63 126820 genome.wustl.edu 37 1 85587440 85587440 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145172.3 +1 validated p.E642K 1.000 232 0% 101 35.6% 0 - possibly_damaging(0.796) tolerated(0.18) neutral(0.355) superfamily_WD40 repeat-like SYDE2 84144 genome.wustl.edu 37 1 85648151 85648151 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032184.1 -1 validated p.F725C 1.000 117 0% 28 32.1% 0 - possibly_damaging(0.714) deleterious(0.05) deleterious(0.603) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CYR61 3491 genome.wustl.edu 37 1 86048591 86048591 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001554.4 +1 validated p.E338K 1.000 49 0% 82 34.1% 102 25.4% benign(0.313) deleterious(0.03) neutral(0.462) HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot ZNHIT6 54680 genome.wustl.edu 37 1 86173543 86173543 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017953.3 -1 validated p.V142A 0.985 385 0% 458 32.1% 22 31.8% possibly_damaging(0.469) deleterious(0) deleterious(0.599) NULL COL24A1 255631 genome.wustl.edu 37 1 86282563 86282563 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152890.5 -1 validated p.L1287I 0.997 124 0% 108 29.6% 2 0% benign(0.013) tolerated(0.21) neutral(0.044) HMMPfam_Collagen COL24A1 255631 genome.wustl.edu 37 1 86591087 86591087 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152890.5 -1 validated p.R311I 0.039 150 0% 78 20.5% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL ODF2L 57489 genome.wustl.edu 37 1 86814481 86814481 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020729.2 -1 validated p.K629N 1.000 119 0% 74 29.7% 1 0% possibly_damaging(0.937) deleterious(0.01) deleterious(0.788) NULL CLCA2 9635 genome.wustl.edu 37 1 86921078 86921078 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006536.5 +1 reviewed p.Y900 0.026 212 0% 99 40.4% 0 - - - - NULL CLCA1 1179 genome.wustl.edu 37 1 86942157 86942157 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001285.3 +1 reviewed p.H160N 1.000 152 0% 78 23.1% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_CLCA_N CLCA1 1179 genome.wustl.edu 37 1 86954728 86954728 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001285.3 +1 reviewed p.T411M 0.998 128 0% 54 18.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like CLCA4 22802 genome.wustl.edu 37 1 87031041 87031041 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012128.3 +1 reviewed p.S214 0.870 114 0% 58 10.3% 0 - - - - HMMPfam_CLCA_N CLCA4 22802 genome.wustl.edu 37 1 87041204 87041204 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012128.3 +1 reviewed p.L625I 0.998 138 0% 48 35.4% 0 - benign(0.069) tolerated(0.19) neutral(0.054) HMMPfam_DUF1973 SH3GLB1 51100 genome.wustl.edu 37 1 87185204 87185204 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016009.3 +1 validated p.E77* 1.000 88 0% 79 26.6% 21 14.2% - - - HMMPfam_BAR,HMMSmart_SM00721 HS2ST1 9653 genome.wustl.edu 37 1 87549891 87549891 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012262.3 +1 reviewed p.K126N 1.000 157 0% 78 28.2% 19 26.3% benign(0.002) tolerated(0.68) neutral(0.002) HMMPfam_HS2ST,superfamily_P-loop containing nucleoside triphosphate hydrolases PKN2 5586 genome.wustl.edu 37 1 89271636 89271636 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006256.2 +1 validated p.R580Q 0.998 122 0% 69 34.8% 7 57.1% benign(0.056) tolerated(0.39) neutral(0.019) NULL CCBL2 56267 genome.wustl.edu 37 1 89427189 89427189 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000260508 -1 known p.K181Q 1.000 242 0% 62 33.9% 26 73% benign(0.101) tolerated(0.19) neutral(0.057) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases GBP3 2635 genome.wustl.edu 37 1 89479842 89479842 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018284.2 -1 reviewed p.F183L 0.262 127 0% 110 32.7% 28 3.5% probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_SSF52540 GBP2 2634 genome.wustl.edu 37 1 89573928 89573928 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004120.3 -1 reviewed p.R569I 0.000 277 0% 211 32.2% 43 4.6% benign(0.008) tolerated(0.18) neutral(0.056) HMMPfam_GBP_C,superfamily_GBP GBP2 2634 genome.wustl.edu 37 1 89573944 89573944 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004120.3 -1 reviewed p.E564K 0.000 255 0% 203 25.6% 63 4.7% benign(0) tolerated(1) - HMMPfam_GBP_C,superfamily_GBP GBP4 115361 genome.wustl.edu 37 1 89652169 89652169 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052941.4 -1 validated p.E518 0.000 298 0% 136 26.5% 14 0% - - - HMMPfam_GBP_C,superfamily_GBP GBP4 115361 genome.wustl.edu 37 1 89652768 89652768 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052941.4 -1 validated p.Q476H 0.033 134 0% 98 36.7% 29 20.6% probably_damaging(0.984) deleterious(0.05) deleterious(0.776) HMMPfam_GBP_C,superfamily_GBP GBP4 115361 genome.wustl.edu 37 1 89657165 89657165 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052941.4 -1 validated p.S232* 0.006 105 0% 48 31.2% 20 0% - - - HMMPfam_GBP,superfamily_SSF52540 GBP6 163351 genome.wustl.edu 37 1 89834293 89834293 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198460.2 +1 validated p.Q61H 0.989 158 0% 101 25.7% 0 - possibly_damaging(0.864) deleterious(0.01) deleterious(0.740) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GBP6 163351 genome.wustl.edu 37 1 89846084 89846084 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198460.2 +1 validated p.K255N 0.001 145 0% 88 22.7% 0 - benign(0) tolerated(0.3) neutral(0.029) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases LRRC8B 23507 genome.wustl.edu 37 1 90048378 90048378 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134476.1 +1 validated p.P57T 1.000 108 0% 51 29.4% 11 54.5% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL LRRC8C 84230 genome.wustl.edu 37 1 90179289 90179289 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032270.4 +1 validated p.R387I 1.000 51 0% 48 29.2% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like LRRC8D 55144 genome.wustl.edu 37 1 90398641 90398641 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134479.1 +1 validated p.A5V 1.000 143 0% 129 35.7% 21 47.6% benign(0.273) deleterious(0.01) neutral(0.435) NULL LRRC8D 55144 genome.wustl.edu 37 1 90399870 90399870 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134479.1 +1 validated p.D415N 1.000 76 0% 62 21% 30 36.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC8D 55144 genome.wustl.edu 37 1 90400589 90400589 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134479.1 +1 validated p.I654M 0.997 69 0% 53 28.3% 37 35.1% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_SSF52058 ZNF326 284695 genome.wustl.edu 37 1 90478724 90478724 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182976.2 +1 validated p.R285Q 0.983 83 0% 77 27.3% 31 38.7% probably_damaging(0.988) tolerated(0.11) deleterious(0.709) NULL ZNF644 84146 genome.wustl.edu 37 1 91403235 91403235 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201269.1 -1 validated p.K1165N 1.000 130 0% 95 29.5% 10 30% benign(0.027) deleterious(0) neutral(0.446) NULL HFM1 164045 genome.wustl.edu 37 1 91731603 91731603 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017975.3 -1 validated p.K1315N 0.980 315 0% 186 26.9% 0 - benign(0.071) deleterious(0.05) neutral(0.350) NULL HFM1 164045 genome.wustl.edu 37 1 91788701 91788701 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017975.3 -1 validated p.E828A 1.000 84 0% 87 24.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec63 HFM1 164045 genome.wustl.edu 37 1 91818152 91818152 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017975.3 -1 validated p.K630E 1.000 117 0% 51 23.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases HFM1 164045 genome.wustl.edu 37 1 91818159 91818159 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017975.3 -1 validated p.V627 0.093 120 0% 52 40.4% 0 - - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases CDC7 8317 genome.wustl.edu 37 1 91977351 91977351 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134419.1 +1 reviewed p.S148Y 1.000 331 0.6% 160 34.4% 1 0% possibly_damaging(0.931) tolerated(0.08) deleterious(0.677) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TGFBR3 7049 genome.wustl.edu 37 1 92195496 92195496 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003243.3 -1 validated p.K201N 1.000 228 0% 115 31.3% 0 - possibly_damaging(0.749) tolerated(0.25) neutral(0.312) NULL BRDT 676 genome.wustl.edu 37 1 92433741 92433741 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001726.3 +1 validated p.E123D 1.000 214 0% 134 34.3% 0 - possibly_damaging(0.872) deleterious(0.03) deleterious(0.704) HMMSmart_SM00297,superfamily_Bromodomain BRDT 676 genome.wustl.edu 37 1 92445134 92445134 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001726.3 +1 validated p.F369 1.000 124 0% 79 34.2% 0 - - - - HMMSmart_SM00297,superfamily_Bromodomain EPHX4 253152 genome.wustl.edu 37 1 92508473 92508473 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173567.4 +1 validated p.I137 0.800 124 0% 73 34.2% 0 - - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 LOC646817 646817 genome.wustl.edu 37 1 92540513 92540513 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_929774.4 -1 model p.F162L 1.000 37 0% 36 30.6% 0 - - - - HMMPfam_NAP KIAA1107 23285 genome.wustl.edu 37 1 92646738 92646738 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015237.2 +1 validated p.S728 0.000 85 0% 57 31.6% 0 - - - - NULL EVI5 7813 genome.wustl.edu 37 1 93169040 93169040 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005665.4 -1 validated p.R203Q 1.000 144 0% 164 67.1% 3 100% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p EVI5 7813 genome.wustl.edu 37 1 93170153 93170153 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005665.4 -1 validated p.E144* 1.000 267 0% 248 31.5% 1 100% - - - superfamily_Ypt/Rab-GAP domain of gyp1p MTF2 22823 genome.wustl.edu 37 1 93592843 93592843 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007358.3 +1 validated p.D326Y 1.000 177 0% 77 35.1% 6 16.6% possibly_damaging(0.845) deleterious(0.01) deleterious(0.730) NULL MTF2 22823 genome.wustl.edu 37 1 93602458 93602458 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007358.3 +1 validated p.I552 1.000 97 0% 64 39.1% 40 52.5% - - - NULL TMED5 50999 genome.wustl.edu 37 1 93645610 93645610 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016040.4 -1 validated e1+1 1.000 29 0% 72 33.3% 3 100% - - - - CCDC18 343099 genome.wustl.edu 37 1 93651947 93651947 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206886.2 +1 validated p.R235* 1.000 107 0% 150 30.7% 0 - - - - NULL CCDC18 343099 genome.wustl.edu 37 1 93680450 93680450 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000421014 +1 known p.E295* 1.000 55 0% 45 22.2% 0 - benign(0.418) deleterious(0.01) deleterious(0.541) NULL CCDC18 343099 genome.wustl.edu 37 1 93682248 93682248 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206886.2 +1 validated p.I710R 0.998 103 0% 71 38% 1 0% possibly_damaging(0.604) tolerated(0.27) neutral(0.243) NULL CCDC18 343099 genome.wustl.edu 37 1 93698025 93698025 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206886.2 +1 validated p.L897I 0.998 95 0% 76 11.8% 1 0% probably_damaging(0.996) tolerated(0.19) deleterious(0.511) NULL CCDC18 343099 genome.wustl.edu 37 1 93720073 93720073 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206886.2 +1 validated p.R1200* 1.000 85 0% 33 27.3% 1 0% - - - superfamily_Prefoldin FNBP1L 54874 genome.wustl.edu 37 1 93965033 93965033 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000271234 +1 known p.F11 0.989 100 0% 41 29.3% 38 31.5% - - - HMMPfam_FCH,HMMSmart_SM00055 BCAR3 8412 genome.wustl.edu 37 1 94033340 94033340 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003567.2 -1 reviewed p.E681D 1.000 157 0% 87 16.1% 20 15% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00147,superfamily_Ras GEF ABCA4 24 genome.wustl.edu 37 1 94471008 94471008 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000350.2 -1 reviewed p.E2046* 0.991 118 0% 120 33.3% 0 - - - - HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 ABCA4 24 genome.wustl.edu 37 1 94548914 94548914 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000350.2 -1 reviewed p.I284 1.000 173 0.6% 90 28.9% 0 - - - - NULL ARHGAP29 9411 genome.wustl.edu 37 1 94639474 94639474 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004815.3 -1 validated p.R1246Q 1.000 99 0% 50 18% 15 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ARHGAP29 9411 genome.wustl.edu 37 1 94643202 94643202 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004815.3 -1 validated p.Q957H 0.001 278 0% 133 32.3% 10 20% possibly_damaging(0.91) tolerated(0.08) deleterious(0.662) NULL ARHGAP29 9411 genome.wustl.edu 37 1 94671238 94671238 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004815.3 -1 validated p.S171L 1.000 98 0% 50 24% 2 100% benign(0.393) tolerated(0.08) neutral(0.426) NULL SLC44A3 126969 genome.wustl.edu 37 1 95303289 95303289 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114106.1 +1 validated p.R178* 1.000 238 0% 145 26.2% 47 8.5% - - - NULL SLC44A3 126969 genome.wustl.edu 37 1 95310877 95310877 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114106.1 +1 validated p.K310T 0.004 115 0% 97 27.8% 22 90.9% benign(0.15) tolerated(0.28) neutral(0.044) HMMPfam_DUF580 CNN3 1266 genome.wustl.edu 37 1 95367288 95367288 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001839.3 -1 validated p.E146 1.000 228 0% 121 33.1% 205 49.2% - - - superfamily_Calponin-homology domain CH-domain RWDD3 25950 genome.wustl.edu 37 1 95710119 95710119 + Splice_Site SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000497058 +1 known NULL 1.000 116 0% 96 31.2% 18 33.3% - - - - PTBP2 58155 genome.wustl.edu 37 1 97278272 97278272 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021190.2 +1 reviewed p.M392I 1.000 120 0% 53 34% 6 66.6% benign(0) tolerated(0.29) neutral(0.029) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PTBP2 58155 genome.wustl.edu 37 1 97278312 97278312 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021190.2 +1 reviewed p.R406C 1.000 132 0% 56 28.6% 10 20% possibly_damaging(0.868) deleterious(0.03) deleterious(0.702) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD FRRS1 391059 genome.wustl.edu 37 1 100174544 100174544 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013660.2 -1 validated p.I597M 0.168 130 0% 78 30.8% 9 55.5% benign(0.019) - - NULL AGL 178 genome.wustl.edu 37 1 100346288 100346288 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000028.2 +1 reviewed p.L612F 0.022 347 0% 140 33.6% 19 31.5% probably_damaging(1) tolerated(0.08) deleterious(0.800) superfamily_(Trans)glycosidases HIAT1 64645 genome.wustl.edu 37 1 100515481 100515481 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033055.2 +1 validated p.S34Y 1.000 275 0% 210 21.9% 34 32.3% benign(0.223) deleterious(0) neutral(0.467) superfamily_MFS_gen_substrate_transporter CDC14A 8556 genome.wustl.edu 37 1 100889792 100889792 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033312.2 +1 reviewed p.K108N 1.000 183 0% 88 35.2% 2 0% benign(0.001) tolerated(0.9) - superfamily_(Phosphotyrosine protein) phosphatases II COL11A1 1301 genome.wustl.edu 37 1 103345304 103345304 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080629.2 -1 reviewed p.S1749A 1.000 81 0% 45 35.6% 0 - unknown(0) tolerated(0.77) - HMMPfam_COLFI,HMMSmart_COLFI COL11A1 1301 genome.wustl.edu 37 1 103354310 103354310 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080629.2 -1 reviewed p.P1520L 1.000 127 0% 56 16.1% 0 - unknown(0) tolerated(0.06) - HMMPfam_Collagen COL11A1 1301 genome.wustl.edu 37 1 103548444 103548444 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080629.2 -1 reviewed p.R64I 1.000 225 0% 208 25.5% 0 - unknown(0) deleterious(0) - HMMSmart_TSPN,superfamily_ConA_like_lec_gl AMY2A 279 genome.wustl.edu 37 1 104160098 104160098 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000699.2 +1 reviewed p.F12L 1.000 558 0% 190 23.7% 4 0% benign(0) tolerated(1) - NULL NTNG1 22854 genome.wustl.edu 37 1 107867271 107867271 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113226.1 +1 validated p.I205T 1.000 125 0% 63 33.3% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Laminin_N,HMMSmart_SM00136 VAV3 10451 genome.wustl.edu 37 1 108291623 108291623 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006113.4 -1 reviewed p.K490T 1.000 214 0% 98 26.5% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FNDC7 163479 genome.wustl.edu 37 1 109255599 109255599 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144937.1 +1 provisional p.I15S 0.008 376 0% 310 45.2% 0 - benign(0) tolerated(0.35) neutral(0.021) NULL STXBP3 6814 genome.wustl.edu 37 1 109337487 109337487 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007269.2 +1 validated p.N356 0.971 123 0.8% 51 29.4% 20 40% - - - HMMPfam_Sec1,superfamily_Sec1-like STXBP3 6814 genome.wustl.edu 37 1 109339310 109339310 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007269.2 +1 validated p.R440C 0.983 195 0% 132 26.5% 35 48.5% possibly_damaging(0.72) tolerated(0.07) deleterious(0.580) HMMPfam_Sec1,superfamily_Sec1-like GPSM2 29899 genome.wustl.edu 37 1 109472410 109472410 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013296.4 +1 validated p.I635F 1.000 136 0% 61 32.8% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GoLoco,HMMSmart_GoLoco WDR47 22911 genome.wustl.edu 37 1 109554274 109554274 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142550.1 -1 validated p.D139Y 1.000 102 0% 86 17.4% 4 50% benign(0.313) deleterious(0) deleterious(0.542) NULL CELSR2 1952 genome.wustl.edu 37 1 109808788 109808788 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001408.2 +1 reviewed p.F1991 0.985 54 0% 117 35.9% 19 42.1% - - - HMMPfam_HRM,HMMSmart_HormR CELSR2 1952 genome.wustl.edu 37 1 109812637 109812637 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001408.2 +1 reviewed p.F2397S 1.000 221 0% 329 30.1% 55 58.1% possibly_damaging(0.659) tolerated(0.15) deleterious(0.474) HMMPfam_7tm_2 MYBPHL 343263 genome.wustl.edu 37 1 109839670 109839670 + Splice_Site SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010985.2 -1 validated e4+2 1.000 194 0% 164 32.9% 0 - - - - - GPR61 83873 genome.wustl.edu 37 1 110086769 110086769 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031936.4 +1 validated p.G375 1.000 47 0% 75 30.7% 0 - - - - superfamily_Family A G protein-coupled receptor-like CSF1 1435 genome.wustl.edu 37 1 110459951 110459951 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000757.4 +1 validated p.L88M 0.025 108 0% 137 32.1% 52 21.1% probably_damaging(0.977) deleterious(0.05) deleterious(0.764) HMMPfam_CSF-1,superfamily_4-helical cytokines KCNC4 3749 genome.wustl.edu 37 1 110765974 110765974 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004978.3 +1 reviewed p.R356H 1.000 70 0% 80 32.5% 6 16.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels RBM15 64783 genome.wustl.edu 37 1 110882424 110882424 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022768.4 +1 validated p.N133H 1.000 26 0% 38 34.2% 2 0% possibly_damaging(0.634) tolerated(0.08) deleterious(0.522) NULL PROK1 84432 genome.wustl.edu 37 1 110998862 110998862 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032414.2 +1 validated p.F69L 0.999 66 0% 101 39.6% 0 - possibly_damaging(0.889) deleterious(0.01) deleterious(0.755) HMMPfam_Prokineticin,superfamily_SSF57190 KCNA3 3738 genome.wustl.edu 37 1 111217026 111217026 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002232.3 -1 reviewed p.R136C 1.000 35 0% 60 33.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold LRIF1 55791 genome.wustl.edu 37 1 111492509 111492509 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018372.3 -1 validated p.E611 0.005 227 0% 156 27.6% 3 0% - - - NULL LRIF1 55791 genome.wustl.edu 37 1 111494075 111494075 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018372.3 -1 validated p.I477 0.176 275 0% 135 31.1% 7 71.4% - - - NULL CEPT1 10390 genome.wustl.edu 37 1 111702063 111702063 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007794.1 +1 reviewed p.A134V 1.000 241 0% 199 32.7% 10 10% probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_CDP-OH_P_transf C1orf88 128344 genome.wustl.edu 37 1 111890344 111890344 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181643.4 +1 validated p.G70* 1.000 139 0% 279 31.5% 1 0% - - - NULL OVGP1 5016 genome.wustl.edu 37 1 111968035 111968035 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002557.3 -1 reviewed p.S96Y 1.000 198 0% 107 21.5% 5 60% probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases ADORA3 140 genome.wustl.edu 37 1 112042689 112042689 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000677.3 -1 reviewed p.I280 0.903 74 0% 59 15.3% 5 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RAP1A 5906 genome.wustl.edu 37 1 112238014 112238014 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010935.1 +1 reviewed p.E37* 1.000 115 0% 71 36.6% 85 28.2% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM212B 55924 genome.wustl.edu 37 1 112270360 112270360 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019099.4 -1 validated p.E42K 1.000 52 0% 62 38.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KCND3 3752 genome.wustl.edu 37 1 112323370 112323370 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004980.3 -1 reviewed p.S438L 1.000 75 0% 51 21.6% 1 0% benign(0.045) deleterious(0.02) neutral(0.386) NULL CTTNBP2NL 55917 genome.wustl.edu 37 1 112998846 112998846 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018704.2 +1 validated p.I244 0.310 107 0.9% 116 38.8% 11 27.2% - - - HMMPfam_CortBP2 CTTNBP2NL 55917 genome.wustl.edu 37 1 112999403 112999403 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018704.2 +1 validated p.S430L 0.971 85 0% 77 37.7% 24 58.3% probably_damaging(0.99) tolerated(0.08) deleterious(0.742) HMMPfam_CortBP2 WNT2B 7482 genome.wustl.edu 37 1 113057518 113057518 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024494.2 +1 reviewed p.R69* 1.000 51 0% 74 29.7% 0 - - - - NULL CAPZA1 829 genome.wustl.edu 37 1 113192042 113192042 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006135.2 +1 reviewed p.V36I 1.000 184 0% 136 33.8% 75 46.6% benign(0.067) tolerated(0.1) neutral(0.291) HMMPfam_F-actin_cap_A,superfamily_SSF90096 CAPZA1 829 genome.wustl.edu 37 1 113201661 113201661 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006135.2 +1 reviewed p.I148 1.000 189 0% 107 18.7% 82 26.8% - - - HMMPfam_F-actin_cap_A,superfamily_SSF90096 LRIG2 9860 genome.wustl.edu 37 1 113636187 113636187 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014813.1 +1 provisional e4+1 1.000 95 0% 94 36.2% 0 - - - - - LRIG2 9860 genome.wustl.edu 37 1 113657197 113657197 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014813.1 +1 provisional p.F743L 1.000 113 0% 93 23.7% 12 50% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 RSBN1 54665 genome.wustl.edu 37 1 114308700 114308700 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018364.3 -1 validated p.D771Y 1.000 198 0% 225 33.8% 11 54.5% probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL RSBN1 54665 genome.wustl.edu 37 1 114340489 114340489 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018364.3 -1 validated p.E291D 0.994 202 0% 117 41.9% 7 28.5% benign(0.009) tolerated(0.25) neutral(0.037) NULL PTPN22 26191 genome.wustl.edu 37 1 114380636 114380636 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015967.4 -1 reviewed p.E462D 0.001 128 0% 111 32.4% 3 0% benign(0.079) tolerated(0.41) neutral(0.020) NULL PTPN22 26191 genome.wustl.edu 37 1 114380745 114380745 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015967.4 -1 reviewed p.S426Y 0.003 127 0% 82 34.1% 2 0% possibly_damaging(0.592) deleterious(0.01) deleterious(0.610) NULL PTPN22 26191 genome.wustl.edu 37 1 114380974 114380974 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015967.4 -1 reviewed p.E350* 0.001 317 0% 234 27.8% 2 0% - - - NULL BCL2L15 440603 genome.wustl.edu 37 1 114429932 114429932 + Missense_Mutation SNP G G T rs185505258 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010922.2 -1 validated p.F22L 0.929 256 0% 174 11.5% 1 0% unknown(0) deleterious(0) - NULL AP4B1 10717 genome.wustl.edu 37 1 114440547 114440547 + Missense_Mutation SNP C C T rs145803736 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006594.2 -1 validated p.R406Q 1.000 49 0% 47 27.7% 46 45.6% possibly_damaging(0.827) deleterious(0.03) deleterious(0.678) HMMPfam_Adaptin_N,superfamily_ARM-type_fold LOC100287722 100287722 genome.wustl.edu 37 1 114447348 114447348 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342103.1 +1 model p.K134N 0.000 74 0% 133 33.8% 16 25% - - - NULL TRIM33 51592 genome.wustl.edu 37 1 114945456 114945456 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015906.3 -1 reviewed p.E940* 1.000 85 0% 94 30.9% 5 40% - - - superfamily_Bromodomain TRIM33 51592 genome.wustl.edu 37 1 114948207 114948207 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015906.3 -1 reviewed p.R865* 1.000 204 0% 126 37.3% 9 22.2% - - - NULL BCAS2 10286 genome.wustl.edu 37 1 115112680 115112680 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005872.2 -1 validated p.D162Y 1.000 269 0% 96 21.9% 52 38.4% possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) HMMPfam_BCAS2 DENND2C 163259 genome.wustl.edu 37 1 115168161 115168161 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198459.3 -1 validated p.L149M 0.168 100 0% 38 18.4% 0 - benign(0.041) tolerated(0.22) neutral(0.045) NULL AMPD1 270 genome.wustl.edu 37 1 115216535 115216535 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000036.2 -1 reviewed p.T657A 1.000 129 0% 201 30.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_A_deaminase,superfamily_SSF51556 CSDE1 7812 genome.wustl.edu 37 1 115268887 115268887 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130523.1 -1 validated p.N544H 1.000 84 0% 96 31.2% 142 69% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins CSDE1 7812 genome.wustl.edu 37 1 115275287 115275287 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130523.1 -1 validated p.R345* 1.000 222 0% 138 26.8% 104 3.8% - - - NULL SYCP1 6847 genome.wustl.edu 37 1 115438113 115438113 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003176.2 +1 validated p.E435* 1.000 106 0% 127 29.1% 0 - - - - HMMPfam_SCP-1 TSHB 7252 genome.wustl.edu 37 1 115576076 115576076 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000549.3 +1 reviewed p.I31 0.120 149 0% 106 46.2% 0 - - - - HMMSmart_SM00068,HMMPfam_Cys_knot,superfamily_Cystine-knot cytokines VANGL1 81839 genome.wustl.edu 37 1 116202372 116202372 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138959.2 +1 reviewed p.S61Y 0.581 75 0% 62 33.9% 14 57.1% possibly_damaging(0.9) deleterious(0.03) deleterious(0.721) HMMPfam_Strabismus VANGL1 81839 genome.wustl.edu 37 1 116206633 116206633 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138959.2 +1 reviewed p.R186C 1.000 331 0.3% 235 30.6% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Strabismus CASQ2 845 genome.wustl.edu 37 1 116245599 116245599 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001232.3 -1 reviewed p.E319D 1.000 75 0% 50 42% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Calsequestrin,superfamily_Thioredoxin-like SLC22A15 55356 genome.wustl.edu 37 1 116569517 116569517 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018420.2 +1 validated p.S201L 1.000 208 0.5% 128 32.8% 2 0% benign(0.084) tolerated(0.15) neutral(0.247) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter MAN1A2 10905 genome.wustl.edu 37 1 117944875 117944875 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006699.3 +1 validated p.E124Q 1.000 115 0% 58 8.6% 9 0% benign(0.001) tolerated(0.28) neutral(0.032) NULL MAN1A2 10905 genome.wustl.edu 37 1 117944905 117944905 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006699.3 +1 validated p.R134* 0.951 116 0.9% 76 30.3% 12 25% - - - NULL FAM46C 54855 genome.wustl.edu 37 1 118166276 118166276 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017709.3 +1 validated p.E262D 0.989 72 0% 60 33.3% 32 21.8% possibly_damaging(0.635) tolerated(0.84) neutral(0.223) HMMPfam_DUF1693 WDR3 10885 genome.wustl.edu 37 1 118495575 118495575 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006784.2 +1 reviewed p.E720* 1.000 194 0% 104 37.5% 19 5.2% - - - superfamily_WD40 repeat-like SPAG17 200162 genome.wustl.edu 37 1 118537067 118537067 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206996.2 -1 validated p.L1714I 1.000 199 0% 85 14.1% 0 - benign(0.367) deleterious(0) deleterious(0.561) NULL SPAG17 200162 genome.wustl.edu 37 1 118566083 118566083 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206996.2 -1 validated p.L1305I 1.000 119 0% 39 48.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HSD3B2 3284 genome.wustl.edu 37 1 119962159 119962159 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000198.3 +1 reviewed p.V87 0.001 98 0% 60 20% 0 - - - - HMMPfam_3Beta_HSD,superfamily_NAD(P)-binding Rossmann-fold domains HSD3B2 3284 genome.wustl.edu 37 1 119965241 119965241 + Frame_Shift_Del DEL T T - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000198.3 +1 reviewed p.*373fs 0.971 - - - - - - - - - NULL PHGDH 26227 genome.wustl.edu 37 1 120279853 120279853 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006623.3 +1 reviewed p.F303 0.010 90 0% 83 26.5% 432 46% - - - HMMPfam_2-Hacid_dh HMGCS2 3158 genome.wustl.edu 37 1 120295908 120295908 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005518.3 -1 reviewed p.A430D 1.000 46 0% 40 40% 0 - benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_HMG_CoA_synt_C,superfamily_Thiolase-like NBPF7 343505 genome.wustl.edu 37 1 120384123 120384123 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001047980.1 -1 predicted p.L147I 0.011 129 0% 81 37% 0 - - - - NULL FAM72B 653820 genome.wustl.edu 37 1 120842038 120842038 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100910.1 +1 predicted p.I72 0.991 628 0% 678 7.5% 7 0% - - - NULL FCGR1B 2210 genome.wustl.edu 37 1 120927218 120927218 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017986.2 -1 validated p.E254D 0.301 320 0% 497 20.9% 19 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL PDE4DIP 9659 genome.wustl.edu 37 1 144857618 144857618 + Missense_Mutation SNP C C A rs3845153 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014644.4 -1 validated p.A2146S 0.793 266 0.4% 151 13.2% 4 25% benign(0.001) tolerated(0.68) neutral(0.002) NULL PDE4DIP 9659 genome.wustl.edu 37 1 144868123 144868123 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014644.4 -1 validated p.D1772E 0.000 226 0% 124 12.1% 5 0% benign(0) tolerated(0.85) neutral(0.001) NULL PDE4DIP 9659 genome.wustl.edu 37 1 144879400 144879400 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014644.4 -1 validated p.N1350 0.749 221 0% 96 16.7% 0 - - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144879457 144879457 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014644.4 -1 validated p.P1331 0.029 147 0% 79 10.1% 6 0% - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144909928 144909928 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014644.4 -1 validated p.E754* 1.000 260 0% 128 10.2% 23 4.3% - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144915524 144915524 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014644.4 -1 validated p.R634Q 0.995 323 0% 193 16.1% 40 30% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PDE4DIP 9659 genome.wustl.edu 37 1 144946732 144946732 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014644.4 -1 validated p.E177* 1.000 217 0% 126 14.3% 2 0% - - - NULL LIX1L 128077 genome.wustl.edu 37 1 145492293 145492293 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153713.1 +1 provisional p.S172Y 1.000 181 0% 133 24.1% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR89A 653519 genome.wustl.edu 37 1 145818788 145818788 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001097612.1 -1 validated p.R27 0.997 425 0% 338 31.7% 18 38.8% - - - NULL ACP6 51205 genome.wustl.edu 37 1 147131842 147131842 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016361.3 -1 validated p.D90Y 1.000 98 0% 87 18.4% 8 0% probably_damaging(0.955) deleterious(0.02) deleterious(0.782) HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like GJA8 2703 genome.wustl.edu 37 1 147380926 147380926 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005267.4 +1 reviewed p.T282A 0.988 71 0% 85 34.1% 0 - benign(0.002) tolerated(1) - HMMPfam_Connexin50 NBPF14 25832 genome.wustl.edu 37 1 148021593 148021593 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015383.1 -1 predicted p.G201* 0.001 380 0% 162 7.4% 0 - - - - HMMPfam_DUF1220 OTUD7B 56957 genome.wustl.edu 37 1 149931670 149931670 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020205.2 -1 validated p.E260* 1.000 252 0% 159 30.8% 15 20% - - - HMMPfam_OTU CA14 23632 genome.wustl.edu 37 1 150235799 150235799 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012113.1 +1 reviewed p.V274 0.998 105 0% 110 29.1% 1 0% - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase C1orf51 148523 genome.wustl.edu 37 1 150257075 150257075 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144697.2 +1 predicted p.A197V 1.000 121 0% 144 34.7% 15 40% possibly_damaging(0.799) tolerated(0.2) neutral(0.350) NULL RPRD2 23248 genome.wustl.edu 37 1 150444968 150444968 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015203.3 +1 validated p.R1182C 1.000 149 0% 112 32.1% 68 47% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ECM1 1893 genome.wustl.edu 37 1 150483956 150483956 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004425.3 +1 reviewed p.F244L 0.998 28 0% 51 31.4% 35 2.8% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) superfamily_Serum albumin-like,HMMPfam_ECM1 MCL1 4170 genome.wustl.edu 37 1 150550786 150550786 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021960.3 -1 reviewed p.L290F 1.000 170 0% 300 31.3% 150 40% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_Bcl-2,HMMSmart_SM00337,superfamily_Bcl-2 inhibitors of programmed cell death LOC100131311 100131311 genome.wustl.edu 37 1 150551487 150551487 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001718187.1 +1 model p.N148S 0.313 27 0% 53 26.4% 132 29.5% - - - NULL HORMAD1 84072 genome.wustl.edu 37 1 150675801 150675801 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032132.3 -1 provisional p.V339 0.696 128 0% 78 42.3% 0 - - - - NULL SETDB1 9869 genome.wustl.edu 37 1 150923291 150923291 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145415.1 +1 reviewed p.F646 1.000 193 0% 157 34.4% 28 21.4% - - - HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain SETDB1 9869 genome.wustl.edu 37 1 150935080 150935080 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145415.1 +1 reviewed p.R1059Q 0.961 93 0% 94 24.5% 50 30% benign(0.003) tolerated(0.4) neutral(0.016) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain ANXA9 8416 genome.wustl.edu 37 1 150967083 150967083 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003568.2 +1 validated p.R295C 1.000 195 0% 280 31.8% 12 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Annexin,HMMPfam_Annexin,HMMSmart_ANX MLLT11 10962 genome.wustl.edu 37 1 151039956 151039956 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006818.3 +1 reviewed p.E86K 1.000 39 0% 53 37.7% 21 33.3% benign(0.153) deleterious(0.04) neutral(0.362) NULL SEMA6C 10500 genome.wustl.edu 37 1 151112165 151112165 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030913.4 -1 reviewed p.F82 1.000 70 0% 179 35.2% 2 0% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6C 10500 genome.wustl.edu 37 1 151112473 151112473 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030913.4 -1 reviewed p.R71Q 1.000 42 0% 70 35.7% 4 50% possibly_damaging(0.685) tolerated(0.15) deleterious(0.485) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SCNM1 79005 genome.wustl.edu 37 1 151140699 151140699 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024041.2 +1 validated p.R160G 0.194 102 0% 87 39.1% 52 40.3% benign(0.193) tolerated(0.46) neutral(0.030) NULL PI4KB 5298 genome.wustl.edu 37 1 151282713 151282713 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002651.1 -1 provisional p.E322K 1.000 71 0% 52 28.8% 12 33.3% benign(0.001) tolerated(0.84) neutral(0.001) NULL CGN 57530 genome.wustl.edu 37 1 151506588 151506588 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020770.2 +1 validated p.R960 0.437 25 0% 24 33.3% 14 57.1% - - - NULL CGN 57530 genome.wustl.edu 37 1 151509357 151509359 + In_Frame_Del DEL AGA AGA - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020770.2 +1 validated p.K1154in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL TUFT1 7286 genome.wustl.edu 37 1 151547444 151547444 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020127.2 +1 validated p.R261W 0.939 53 0% 20 20% 12 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CELF3 11189 genome.wustl.edu 37 1 151688415 151688415 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007185.4 -1 reviewed p.E28K 1.000 90 0% 179 28.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RORC 6097 genome.wustl.edu 37 1 151787393 151787393 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005060.3 -1 reviewed p.E269D 0.999 56 1.8% 74 27% 3 33.3% benign(0) tolerated(0.3) neutral(0.029) superfamily_Nuclear receptor ligand-binding domain THEM5 284486 genome.wustl.edu 37 1 151820328 151820328 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182578.3 -1 validated p.V196M 0.001 70 0% 70 14.3% 1 0% possibly_damaging(0.822) deleterious(0.04) deleterious(0.660) HMMPfam_4HBT,superfamily_SSF54637 THEM5 284486 genome.wustl.edu 37 1 151824925 151824925 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182578.3 -1 validated p.F45S 1.000 84 0% 80 26.3% 0 - benign(0.033) deleterious(0) neutral(0.446) NULL TCHHL1 126637 genome.wustl.edu 37 1 152057629 152057629 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008536.1 -1 provisional p.I843 0.003 321 0.3% 324 15.4% 0 - - - - NULL TCHHL1 126637 genome.wustl.edu 37 1 152058118 152058118 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008536.1 -1 provisional p.F680L 0.000 270 0% 263 27.4% 0 - benign(0.147) tolerated(0.54) neutral(0.020) NULL TCHHL1 126637 genome.wustl.edu 37 1 152058833 152058833 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008536.1 -1 provisional p.S442Y 0.118 244 0% 343 32.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FLG 2312 genome.wustl.edu 37 1 152281163 152281163 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002016.1 -1 reviewed p.P2067S 0.000 359 0% 252 18.3% 0 - unknown(0) tolerated(1) - NULL FLG 2312 genome.wustl.edu 37 1 152283022 152283022 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002016.1 -1 reviewed p.S1447Y 0.000 266 0% 218 31.7% 0 - possibly_damaging(0.741) deleterious(0.05) deleterious(0.617) NULL FLG2 388698 genome.wustl.edu 37 1 152325815 152325815 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001014342.2 -1 provisional p.H1483N 0.001 407 0% 220 29.1% 0 - unknown(0) tolerated(0.17) - NULL FLG2 388698 genome.wustl.edu 37 1 152329372 152329372 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001014342.2 -1 provisional p.S297Y 1.000 133 0% 136 34.6% 0 - unknown(0) deleterious(0) - NULL LCE3D 84648 genome.wustl.edu 37 1 152552328 152552328 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032563.1 -1 validated p.C29G 0.980 219 0% 184 29.3% 0 - unknown(0) - - NULL LCE2C 353140 genome.wustl.edu 37 1 152648721 152648721 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178429.2 +1 validated p.R77M 0.996 124 0% 101 26.7% 0 - unknown(0) - - NULL LCE2A 353139 genome.wustl.edu 37 1 152671633 152671633 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178428.3 +1 validated p.D86N 0.004 63 0% 86 39.5% 0 - unknown(0) - - NULL LCE1A 353131 genome.wustl.edu 37 1 152800068 152800068 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178348.1 +1 validated p.V40 0.105 172 0% 160 31.2% 0 - - - - NULL IVL 3713 genome.wustl.edu 37 1 152882445 152882445 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005547.2 +1 reviewed p.K58Q 0.000 57 0% 42 23.8% 0 - unknown(0) deleterious(0.03) - HMMPfam_Involucrin_N IVL 3713 genome.wustl.edu 37 1 152882507 152882507 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005547.2 +1 reviewed p.Q78 0.003 45 0% 45 24.4% 0 - - - - NULL IVL 3713 genome.wustl.edu 37 1 152882631 152882631 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005547.2 +1 reviewed p.N120D 0.000 82 0% 55 12.7% 0 - unknown(0) tolerated(0.42) - NULL S100A16 140576 genome.wustl.edu 37 1 153580538 153580538 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080388.1 -1 provisional p.K30N 1.000 67 0% 95 29.5% 141 40.4% benign(0.141) deleterious(0.01) neutral(0.418) HMMPfam_S_100,superfamily_EF-hand INTS3 65123 genome.wustl.edu 37 1 153742750 153742750 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023015.3 +1 validated p.E822D 1.000 164 0% 287 29.3% 74 45.9% benign(0.003) tolerated(0.62) neutral(0.004) NULL NUP210L 91181 genome.wustl.edu 37 1 154029383 154029383 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207308.2 -1 validated p.L1050I 0.917 171 0% 134 32.1% 0 - probably_damaging(0.979) tolerated(0.55) neutral(0.429) NULL NUP210L 91181 genome.wustl.edu 37 1 154091202 154091202 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207308.2 -1 validated p.K470T 0.991 229 0% 211 35.5% 0 - benign(0) tolerated(0.45) neutral(0.012) superfamily_Invasin_intimin ATP8B2 57198 genome.wustl.edu 37 1 154315399 154315399 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020452.3 +1 reviewed p.S505F 0.967 61 0% 100 35% 2 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 IL6R 3570 genome.wustl.edu 37 1 154401824 154401824 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000565.2 +1 reviewed p.R80G 0.001 54 0% 71 33.8% 9 22.2% possibly_damaging(0.64) tolerated(0.22) neutral(0.266) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin TDRD10 126668 genome.wustl.edu 37 1 154517320 154517320 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098475.1 +1 validated p.D283Y 0.350 222 0% 241 12.4% 0 - probably_damaging(1) - - HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT CHRNB2 1141 genome.wustl.edu 37 1 154543885 154543885 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000748.2 +1 reviewed p.D196N 1.000 152 0% 229 29.3% 1 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like KCNN3 3782 genome.wustl.edu 37 1 154698462 154698462 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002249.4 -1 reviewed p.R544Q 1.000 76 0% 98 25.5% 26 3.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Small-conductance potassium channel,HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels KCNN3 3782 genome.wustl.edu 37 1 154841557 154841557 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002249.4 -1 reviewed p.I295S 1.000 254 0% 351 26.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_SK_channel KCNN3 3782 genome.wustl.edu 37 1 154841827 154841827 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002249.4 -1 reviewed p.G205D 1.000 155 0% 184 35.3% 2 100% benign(0.076) deleterious(0.02) neutral(0.389) NULL ADAM15 8751 genome.wustl.edu 37 1 155028926 155028926 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207197.1 +1 reviewed p.F327V 0.998 129 0% 251 25.5% 132 57.5% possibly_damaging(0.731) tolerated(0.54) neutral(0.275) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM15 8751 genome.wustl.edu 37 1 155031201 155031201 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207197.1 +1 reviewed p.R645* 0.006 116 0% 180 27.8% 202 5.4% - - - HMMSmart_SM00608 MTX1 4580 genome.wustl.edu 37 1 155178721 155178721 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002455.3 +1 validated p.R42 0.000 10 0% 25 36% 1 100% - - - NULL SCAMP3 10067 genome.wustl.edu 37 1 155231472 155231472 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005698.2 -1 reviewed p.V40 1.000 73 0% 134 25.4% 61 6.5% - - - NULL HCN3 57657 genome.wustl.edu 37 1 155247650 155247650 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020897.1 +1 validated p.S90N 1.000 29 0% 58 50% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans_N,superfamily_SSF81324 PKLR 5313 genome.wustl.edu 37 1 155261574 155261574 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000298.5 -1 reviewed p.R531C 0.998 73 0% 111 10.8% 0 - possibly_damaging(0.925) deleterious(0.05) deleterious(0.719) HMMPfam_PK_C,superfamily_PK C-terminal domain-like PKLR 5313 genome.wustl.edu 37 1 155265336 155265336 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000392414 -1 known p.T125M 0.996 28 0% 54 35.2% 0 - - - - HMMPfam_PK,superfamily_Phosphoenolpyruvate/pyruvate domain FDPS 2224 genome.wustl.edu 37 1 155279870 155279870 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135821.1 +1 reviewed p.Q71H 1.000 112 0% 159 35.8% 170 50.5% benign(0.021) tolerated(0.05) neutral(0.346) NULL ASH1L 55870 genome.wustl.edu 37 1 155491082 155491082 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018489.2 -1 reviewed p.E77* 1.000 252 0% 161 15.5% 1 100% - - - NULL YY1AP1 55249 genome.wustl.edu 37 1 155629836 155629836 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139118.1 -1 reviewed p.S668Y 0.347 161 0% 118 42.4% 78 38.4% possibly_damaging(0.942) deleterious(0.04) deleterious(0.736) NULL GON4L 54856 genome.wustl.edu 37 1 155722107 155722107 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037533.1 -1 validated p.E2038D 0.055 128 0% 139 15.8% 10 30% benign(0.282) deleterious(0.02) deleterious(0.470) NULL GON4L 54856 genome.wustl.edu 37 1 155727049 155727049 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037533.1 -1 validated p.F1773L 1.000 83 0% 67 20.9% 22 31.8% probably_damaging(0.987) tolerated(0.13) deleterious(0.689) HMMPfam_PAH,superfamily_PAH2 domain CCT3 7203 genome.wustl.edu 37 1 156288809 156288809 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005998.3 -1 reviewed e8-1 1.000 55 0% 73 30.1% 0 - - - - - BCAN 63827 genome.wustl.edu 37 1 156618362 156618362 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021948.3 +1 validated p.E258* 1.000 34 0% 44 25% 0 - - - - HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like MRPL24 79590 genome.wustl.edu 37 1 156708395 156708395 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024540.3 -1 reviewed p.K34N 1.000 59 0% 84 14.3% 79 20.2% possibly_damaging(0.44) tolerated(0.45) neutral(0.155) superfamily_Transl_SH3_like INSRR 3645 genome.wustl.edu 37 1 156821210 156821210 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014215.1 -1 validated p.Q367 1.000 101 0% 216 17.6% 0 - - - - HMMPfam_Recep_L_domain,superfamily_SSF52058 LRRC71 149499 genome.wustl.edu 37 1 156894259 156894259 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144702.2 +1 validated p.E118D 1.000 35 0% 57 12.3% 0 - probably_damaging(0.979) tolerated(0.11) deleterious(0.694) superfamily_RNI-like FCRL5 83416 genome.wustl.edu 37 1 157512747 157512747 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031281.2 -1 validated p.S342I 0.001 89 0% 64 39.1% 15 0% probably_damaging(0.991) tolerated(0.21) deleterious(0.488) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCRL4 83417 genome.wustl.edu 37 1 157557351 157557351 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031282.2 -1 reviewed e5-1 0.982 104 0% 58 29.3% 0 - - - - - FCRL3 115352 genome.wustl.edu 37 1 157666043 157666043 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052939.3 -1 reviewed p.L307I 0.853 109 0% 42 26.2% 3 0% probably_damaging(1) tolerated(0.38) deleterious(0.517) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCRL2 79368 genome.wustl.edu 37 1 157716542 157716542 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030764.3 -1 reviewed p.S504Y 0.000 218 0% 96 35.4% 10 0% unknown(0) deleterious(0.04) - NULL FCRL2 79368 genome.wustl.edu 37 1 157740241 157740241 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030764.3 -1 reviewed p.L90I 0.000 150 0% 109 32.1% 0 - possibly_damaging(0.84) tolerated(0.41) neutral(0.337) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CD1D 912 genome.wustl.edu 37 1 158152072 158152072 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001766.3 +1 reviewed p.E193D 0.000 56 0% 94 29.8% 7 14.2% benign(0) tolerated(1) - HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog CD1C 911 genome.wustl.edu 37 1 158262105 158262105 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001765.2 +1 reviewed p.R187Q 0.000 112 0% 48 20.8% 2 0% possibly_damaging(0.786) tolerated(0.55) neutral(0.301) HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog CD1E 913 genome.wustl.edu 37 1 158325164 158325164 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030893.2 +1 reviewed p.G144W 0.997 91 0% 105 21.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MHC antigen-recognition domain OR10T2 128360 genome.wustl.edu 37 1 158368344 158368344 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004475.1 -1 provisional p.L305I 0.005 31 0% 40 27.5% 0 - benign(0.034) tolerated(0.5) neutral(0.012) superfamily_SSF81321 OR10T2 128360 genome.wustl.edu 37 1 158368795 158368795 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004475.1 -1 provisional p.F154L 0.000 79 0% 37 16.2% 0 - possibly_damaging(0.946) tolerated(0.59) neutral(0.395) HMMPfam_7tm_1,superfamily_SSF81321 OR10T2 128360 genome.wustl.edu 37 1 158369070 158369070 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004475.1 -1 provisional p.F63V 0.112 127 0% 77 28.6% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_7tm_1,superfamily_SSF81321 OR10K2 391107 genome.wustl.edu 37 1 158389734 158389734 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004476.1 -1 provisional p.T308I 0.000 64 0% 34 29.4% 0 - benign(0.019) tolerated(0.24) neutral(0.038) NULL OR10R2 343406 genome.wustl.edu 37 1 158450173 158450173 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004472.1 +1 provisional p.A169E 0.011 164 0% 95 28.4% 0 - benign(0.103) tolerated(0.11) neutral(0.280) HMMPfam_7tm_1,superfamily_SSF81321 OR6P1 128366 genome.wustl.edu 37 1 158532670 158532670 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000334632 -1 known p.A242V 0.170 88 0% 65 36.9% 0 - benign(0.008) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 OR10X1 128367 genome.wustl.edu 37 1 158549602 158549602 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004477.1 -1 provisional p.L30I 0.288 71 0% 34 23.5% 0 - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158587355 158587355 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003126.2 -1 reviewed p.T2191N 1.000 155 0% 85 17.6% 0 - possibly_damaging(0.662) tolerated(0.07) deleterious(0.553) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158606513 158606513 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003126.2 -1 reviewed p.R1743I 0.988 132 0% 53 26.4% 0 - possibly_damaging(0.904) deleterious(0) deleterious(0.803) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158613180 158613180 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003126.2 -1 reviewed p.E1458D 0.183 131 0% 44 20.5% 0 - benign(0.001) tolerated(1) - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158644362 158644362 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003126.2 -1 reviewed p.E406* 1.000 102 0% 50 30% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR6K3 391114 genome.wustl.edu 37 1 158687789 158687789 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005327.2 -1 validated p.I55 0.000 65 0% 40 22.5% 0 - - - - superfamily_SSF81321 OR6N1 128372 genome.wustl.edu 37 1 158735553 158735553 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005185.1 -1 provisional p.R307I 0.289 202 0.5% 102 68.6% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) superfamily_SSF81321 LOC646377 646377 genome.wustl.edu 37 1 158848639 158848639 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001725569.1 +1 model p.L75R 0.094 43 0% 32 15.6% 0 - - - - HMMPfam_PAAD_DAPIN IFI16 3428 genome.wustl.edu 37 1 158988347 158988347 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005531.2 +1 reviewed p.K293T 0.000 103 0% 68 10.3% 15 0% benign(0.076) tolerated(0.66) neutral(0.008) HMMPfam_HIN IFI16 3428 genome.wustl.edu 37 1 159019294 159019294 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000295809 +1 known p.P524T 0.001 276 0% 149 24.2% 49 4% probably_damaging(0.997) tolerated(0.17) deleterious(0.525) NULL IFI16 3428 genome.wustl.edu 37 1 159019380 159019380 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000295809 +1 known p.F552L 0.001 324 0% 143 28% 39 10.2% benign(0.043) tolerated(0.65) neutral(0.005) NULL CADM3 57863 genome.wustl.edu 37 1 159161787 159161787 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021189.3 +1 validated p.C84 1.000 49 0% 45 42.2% 0 - - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CADM3 57863 genome.wustl.edu 37 1 159163227 159163227 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021189.3 +1 validated p.P167S 1.000 148 0% 119 26.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_C2-set_2,superfamily_SSF48726 DARC 2532 genome.wustl.edu 37 1 159175686 159175686 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122951.1 +1 reviewed p.L155M 1.000 48 0% 45 44.4% 8 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL CCDC19 25790 genome.wustl.edu 37 1 159856360 159856360 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012337.2 -1 validated p.R236 1.000 404 0% 235 28.1% 0 - - - - NULL CCDC19 25790 genome.wustl.edu 37 1 159858192 159858192 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012337.2 -1 validated p.E123* 1.000 75 0% 66 31.8% 0 - - - - NULL PIGM 93183 genome.wustl.edu 37 1 160000657 160000657 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145167.2 -1 reviewed p.G291 0.857 93 0% 76 22.4% 16 43.7% - - - HMMPfam_Mannosyl_trans ATP1A2 477 genome.wustl.edu 37 1 160090743 160090743 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000702.3 +1 reviewed p.G20 0.984 138 0% 125 37.6% 109 41.2% - - - NULL ATP1A2 477 genome.wustl.edu 37 1 160097563 160097563 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000702.3 +1 reviewed p.G324S 1.000 59 0% 47 23.4% 196 58.1% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_E1-E2_ATPase,superfamily_SSF81665 ATP1A2 477 genome.wustl.edu 37 1 160099160 160099160 + Missense_Mutation SNP G G T rs190449395 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000702.3 +1 reviewed p.E477D 1.000 107 0% 77 36.4% 119 53.7% benign(0.397) deleterious(0.01) deleterious(0.533) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP1A2 477 genome.wustl.edu 37 1 160105025 160105025 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000447527 +1 known p.S396L 0.053 68 0% 49 32.7% 273 56.4% - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M CASQ1 844 genome.wustl.edu 37 1 160162630 160162630 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001231.4 +1 reviewed p.F100 0.974 97 0% 148 28.4% 1 0% - - - HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd CASQ1 844 genome.wustl.edu 37 1 160165800 160165800 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001231.4 +1 reviewed p.F249 1.000 101 0% 116 36.2% 0 - - - - HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd COPA 1314 genome.wustl.edu 37 1 160280028 160280028 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098398.1 -1 reviewed p.F366C 1.000 149 0% 146 28.1% 118 51.6% probably_damaging(0.977) tolerated(0.17) deleterious(0.478) HMMPfam_Coatomer_WDAD SLAMF6 114836 genome.wustl.edu 37 1 160460962 160460962 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052931.4 -1 reviewed p.A200D 0.053 121 0% 43 18.6% 5 0% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) superfamily_Immunoglobulin CD84 8832 genome.wustl.edu 37 1 160535429 160535429 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003874.3 -1 validated p.I51 0.673 136 0% 47 34% 1 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin SLAMF1 6504 genome.wustl.edu 37 1 160607143 160607143 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003037.2 -1 validated p.E85K 0.000 147 0% 154 20.8% 4 0% benign(0.003) tolerated(0.9) - HMMPfam_SLAM LY9 4063 genome.wustl.edu 37 1 160766004 160766004 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002348.2 +1 validated p.D9 0.000 148 0% 160 18.8% 3 0% - - - NULL LY9 4063 genome.wustl.edu 37 1 160788072 160788072 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002348.2 +1 validated p.G469 0.000 397 0% 235 25.5% 2 0% - - - NULL ARHGAP30 257106 genome.wustl.edu 37 1 161018986 161018986 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001025598.1 -1 validated p.F609V 0.999 119 0% 169 33.7% 16 0% possibly_damaging(0.829) deleterious(0) deleterious(0.759) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161021228 161021228 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001025598.1 -1 validated p.P432 0.483 59 0% 97 28.9% 27 0% - - - NULL NIT1 4817 genome.wustl.edu 37 1 161089057 161089057 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005600.1 +1 provisional p.G78S 1.000 65 0% 135 30.4% 39 38.4% benign(0.108) tolerated(0.14) neutral(0.258) HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase NIT1 4817 genome.wustl.edu 37 1 161089356 161089356 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005600.1 +1 provisional p.E137 0.999 97 0% 130 24.6% 33 54.5% - - - HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase PPOX 5498 genome.wustl.edu 37 1 161136961 161136961 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000309.3 +1 reviewed p.I53 0.268 147 0% 233 34.3% 12 25% - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain NDUFS2 4720 genome.wustl.edu 37 1 161179031 161179031 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004550.4 +1 reviewed p.E148K 0.997 167 0% 169 30.2% 144 42.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF56762 NR1I3 9970 genome.wustl.edu 37 1 161202644 161202644 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077482.1 -1 reviewed p.F167L 1.000 117 0% 107 32.7% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor SDHC 6391 genome.wustl.edu 37 1 161332256 161332256 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001035511.1 +1 reviewed p.H127N 0.000 200 0% 185 6.5% 103 5.8% benign(0.017) - - NULL FCRLA 84824 genome.wustl.edu 37 1 161681867 161681867 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032738.3 +1 reviewed p.I232L 0.000 60 0% 33 39.4% 3 0% benign(0) tolerated(0.44) neutral(0.013) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 ATF6 22926 genome.wustl.edu 37 1 161833097 161833097 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007348.2 +1 validated p.R572* 1.000 130 0% 92 32.6% 33 12.1% - - - NULL OLFML2B 25903 genome.wustl.edu 37 1 161954724 161954724 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015441.1 -1 provisional p.Q507H 1.000 232 0% 198 33.3% 10 0% benign(0.028) tolerated(1) neutral(0.002) HMMPfam_OLF,HMMSmart_SM00284 OLFML2B 25903 genome.wustl.edu 37 1 161987262 161987262 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015441.1 -1 provisional p.F158L 1.000 106 0% 152 11.8% 1 0% benign(0.406) tolerated(0.5) neutral(0.141) NULL OLFML2B 25903 genome.wustl.edu 37 1 161993062 161993062 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015441.1 -1 provisional p.E53D 1.000 108 0% 177 32.2% 18 0% possibly_damaging(0.719) deleterious(0) deleterious(0.705) NULL DDR2 4921 genome.wustl.edu 37 1 162746018 162746018 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001014796.1 +1 reviewed p.R714Q 1.000 124 0% 76 26.3% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like HSD17B7 51478 genome.wustl.edu 37 1 162766450 162766450 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016371.2 +1 validated p.F105L 0.245 189 0% 181 24.9% 15 33.3% benign(0.001) tolerated(0.42) neutral(0.014) superfamily_NAD(P)-binding Rossmann-fold domains LMX1A 4009 genome.wustl.edu 37 1 165182974 165182974 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177398.3 -1 validated p.D191 0.997 175 0% 101 37.6% 0 - - - - superfamily_Homeodomain-like LMX1A 4009 genome.wustl.edu 37 1 165322354 165322354 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177398.3 -1 validated p.F74L 1.000 54 0% 103 38.8% 0 - possibly_damaging(0.836) deleterious(0.02) deleterious(0.703) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) RXRG 6258 genome.wustl.edu 37 1 165398117 165398117 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006917.3 -1 reviewed p.T46A 1.000 74 0% 37 24.3% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL LRRC52 440699 genome.wustl.edu 37 1 165532888 165532888 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005214.3 +1 validated p.A257T 0.972 56 0% 31 35.5% 0 - benign(0.013) tolerated(0.34) neutral(0.024) NULL TMCO1 54499 genome.wustl.edu 37 1 165712480 165712480 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019026.3 -1 validated p.R131Q 0.994 107 0% 93 23.7% 25 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF841 TMCO1 54499 genome.wustl.edu 37 1 165721403 165721403 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019026.3 -1 validated p.R87* 1.000 82 0% 109 19.3% 16 0% - - - HMMPfam_DUF841 TADA1 117143 genome.wustl.edu 37 1 166827485 166827485 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053053.3 -1 validated p.Q242H 0.994 52 0% 47 40.4% 17 52.9% benign(0) tolerated(0.22) neutral(0.042) NULL MAEL 84944 genome.wustl.edu 37 1 166960690 166960690 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032858.1 +1 validated p.A101T 0.964 122 0% 198 27.8% 0 - benign(0) tolerated(0.59) neutral(0.004) HMMPfam_DUF1898 MAEL 84944 genome.wustl.edu 37 1 166990348 166990348 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032858.1 +1 validated p.F356L 0.999 153 0% 146 28.1% 1 0% benign(0.004) tolerated(0.45) neutral(0.012) NULL GPA33 10223 genome.wustl.edu 37 1 167038173 167038173 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005814.1 -1 reviewed p.R134H 0.011 130 0% 163 30.7% 0 - possibly_damaging(0.907) tolerated(0.55) neutral(0.367) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin DUSP27 92235 genome.wustl.edu 37 1 167082984 167082984 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080426.1 +1 provisional p.F50V 1.000 115 0% 110 34.5% 0 - probably_damaging(0.977) deleterious(0) deleterious(0.863) NULL DUSP27 92235 genome.wustl.edu 37 1 167097069 167097069 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080426.1 +1 provisional p.R901C 0.980 97 1% 140 22.1% 0 - probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL DUSP27 92235 genome.wustl.edu 37 1 167097771 167097771 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080426.1 +1 provisional p.E1135* 0.999 43 0% 39 43.6% 0 - - - - NULL POU2F1 5451 genome.wustl.edu 37 1 167365638 167365638 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002697.2 +1 provisional p.L345H 1.000 150 0% 111 36.9% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains ADCY10 55811 genome.wustl.edu 37 1 167793962 167793962 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018417.4 -1 reviewed p.I1294 0.001 134 0% 170 28.8% 0 - - - - superfamily_TPR-like ADCY10 55811 genome.wustl.edu 37 1 167805733 167805733 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018417.4 -1 reviewed p.V1041 0.000 99 0% 53 18.9% 0 - - - - NULL ADCY10 55811 genome.wustl.edu 37 1 167805745 167805745 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018417.4 -1 reviewed p.F1037L 0.993 94 0% 47 42.6% 0 - benign(0.004) tolerated(0.25) neutral(0.037) NULL ADCY10 55811 genome.wustl.edu 37 1 167839646 167839646 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018417.4 -1 reviewed p.R489C 1.000 128 0% 51 31.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DCAF6 55827 genome.wustl.edu 37 1 168035686 168035686 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018442.2 +1 validated p.R819* 1.000 79 0% 48 31.2% 33 9% - - - superfamily_WD40_like NME7 29922 genome.wustl.edu 37 1 169199982 169199982 + Nonsense_Mutation SNP G G A rs138530600 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013330.3 -1 validated p.R322* 0.999 124 0% 136 32.4% 16 6.2% - - - HMMPfam_NDK,HMMSmart_SM00562,superfamily_Nucleoside diphosphate kinases BLZF1 8548 genome.wustl.edu 37 1 169346043 169346043 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003666.2 +1 validated p.K98N 0.897 153 0% 85 25.9% 11 54.5% probably_damaging(0.989) tolerated(0.05) deleterious(0.785) NULL C1orf114 57821 genome.wustl.edu 37 1 169388367 169388367 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021179.1 -1 predicted p.E367* 0.998 339 0% 149 28.9% 0 - - - - NULL C1orf114 57821 genome.wustl.edu 37 1 169390975 169390975 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021179.1 -1 predicted p.D232Y 1.000 160 0% 103 36.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL C1orf114 57821 genome.wustl.edu 37 1 169391085 169391085 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021179.1 -1 predicted p.F195S 0.015 163 0% 102 41.2% 0 - benign(0.025) tolerated(0.61) neutral(0.005) NULL F5 2153 genome.wustl.edu 37 1 169492538 169492538 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000130.4 -1 reviewed p.K1982T 1.000 177 0% 59 30.5% 1 0% possibly_damaging(0.616) deleterious(0.03) deleterious(0.579) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like F5 2153 genome.wustl.edu 37 1 169500257 169500257 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000130.4 -1 reviewed p.R1659C 0.826 121 0% 41 17.1% 1 0% probably_damaging(0.989) tolerated(0.17) deleterious(0.498) superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169505842 169505842 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000130.4 -1 reviewed p.D1625N 1.000 129 0% 46 43.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169511512 169511512 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000130.4 -1 reviewed p.S939L 0.022 108 0% 76 18.4% 0 - benign(0.006) deleterious(0) neutral(0.445) NULL F5 2153 genome.wustl.edu 37 1 169551753 169551753 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000130.4 -1 reviewed p.L56I 0.011 61 0% 29 27.6% 0 - benign(0.031) tolerated(0.18) neutral(0.058) superfamily_Cupredoxins SELP 6403 genome.wustl.edu 37 1 169586578 169586578 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003005.3 -1 reviewed p.R57C 1.000 90 0% 53 37.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like KIFAP3 22920 genome.wustl.edu 37 1 170003558 170003558 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014970.2 -1 reviewed p.R233 1.000 174 0% 108 27.8% 11 81.8% - - - HMMPfam_KAP,superfamily_ARM repeat C1orf129 80133 genome.wustl.edu 37 1 170965743 170965743 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025063.2 +1 validated p.S478Y 0.007 181 0% 107 43% 0 - probably_damaging(0.983) tolerated(0.07) deleterious(0.748) NULL LOC646804 646804 genome.wustl.edu 37 1 171052933 171052933 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_929761.3 +1 model p.F101V 0.515 88 0% 50 22% 0 - - - - NULL FMO2 2327 genome.wustl.edu 37 1 171165823 171165823 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001460.2 +1 reviewed p.F119L 0.333 130 0% 57 28.1% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_FMO-like,superfamily_SSF51905 FMO1 2326 genome.wustl.edu 37 1 171251154 171251154 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002021.1 +1 reviewed p.P289S 1.000 78 0% 44 34.1% 0 - possibly_damaging(0.873) deleterious(0) deleterious(0.784) HMMPfam_FMO-like,superfamily_NAD(P)-binding Rossmann-fold domains FMO4 2329 genome.wustl.edu 37 1 171301881 171301881 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002022.1 +1 reviewed p.L221I 0.000 300 0% 168 29.8% 2 0% benign(0) tolerated(0.95) - HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain DNM3 26052 genome.wustl.edu 37 1 172050998 172050998 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015569.3 +1 validated p.V483 0.997 184 0% 97 28.9% 0 - - - - HMMPfam_Dynamin_M DNM3 26052 genome.wustl.edu 37 1 172061986 172061986 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015569.3 +1 validated p.V506F 1.000 175 0% 96 22.9% 2 50% benign(0.002) deleterious(0.05) neutral(0.345) HMMPfam_Dynamin_M C1orf9 51430 genome.wustl.edu 37 1 172501619 172501619 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000367723 +1 known p.G3* 0.005 57 0% 82 26.8% 1 0% - - - NULL C1orf9 51430 genome.wustl.edu 37 1 172538254 172538254 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014283.3 +1 validated p.K276N 1.000 85 0% 110 26.4% 13 53.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL C1orf9 51430 genome.wustl.edu 37 1 172559002 172559002 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014283.3 +1 validated p.R921C 1.000 26 0% 19 42.1% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC9A11 284525 genome.wustl.edu 37 1 173476104 173476104 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178527.3 -1 validated p.I1039T 0.056 105 0% 65 36.9% 0 - possibly_damaging(0.767) tolerated(0.27) neutral(0.318) NULL SLC9A11 284525 genome.wustl.edu 37 1 173552668 173552668 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178527.3 -1 validated p.R206K 0.000 118 0% 60 35% 0 - benign(0.003) tolerated(0.94) - HMMPfam_Na_H_Exchanger SLC9A11 284525 genome.wustl.edu 37 1 173569289 173569289 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178527.3 -1 validated p.F65 0.344 81 0% 44 13.6% 0 - - - - HMMPfam_Na_H_Exchanger SLC9A11 284525 genome.wustl.edu 37 1 173570897 173570897 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178527.3 -1 validated p.A7T 0.000 194 0% 144 27.8% 0 - benign(0) - - NULL ZBTB37 84614 genome.wustl.edu 37 1 173839997 173839997 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122770.1 +1 provisional p.L212I 1.000 98 0% 150 29.3% 4 25% probably_damaging(0.99) tolerated(0.05) deleterious(0.787) NULL RC3H1 149041 genome.wustl.edu 37 1 173934064 173934064 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172071.2 -1 validated p.R510Q 0.999 96 0% 60 35% 2 50% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL RABGAP1L 9910 genome.wustl.edu 37 1 174210746 174210746 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014857.3 +1 validated p.G223D 1.000 107 0% 179 30.7% 2 0% benign(0.019) tolerated(0.57) neutral(0.007) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like RABGAP1L 9910 genome.wustl.edu 37 1 174340133 174340133 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014857.3 +1 validated p.L494 1.000 223 0% 185 36.8% 6 33.3% - - - NULL TNR 7143 genome.wustl.edu 37 1 175299271 175299271 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003285.2 -1 validated p.F1244L 1.000 59 0% 37 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like PAPPA2 60676 genome.wustl.edu 37 1 176708769 176708769 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020318.2 +1 validated p.F1269S 1.000 57 0% 19 31.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ASTN1 460 genome.wustl.edu 37 1 176903354 176903354 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004319.1 -1 validated p.S869P 1.000 94 0% 40 20% 6 33.3% possibly_damaging(0.444) tolerated(0.17) neutral(0.204) HMMSmart_MACPF ASTN1 460 genome.wustl.edu 37 1 176992636 176992636 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004319.1 -1 validated p.L448I 1.000 30 0% 29 31% 2 0% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL RASAL2 9462 genome.wustl.edu 37 1 178063631 178063631 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000367649 +1 known p.E2K 1.000 4 0.000 10 0.400 1 100% benign(0.051) tolerated(0.06) neutral(0.326) NULL RASAL2 9462 genome.wustl.edu 37 1 178421573 178421573 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170692.2 +1 reviewed p.E581* 1.000 163 0% 92 28.3% 3 0% - - - HMMPfam_RasGAP,HMMSmart_RasGAP,superfamily_Rho_GAP C1orf220 400798 genome.wustl.edu 37 1 178514855 178514855 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000319387 +1 known p.L81F 0.004 87 0% 111 28.8% 0 - unknown(0) - - NULL RALGPS2 55103 genome.wustl.edu 37 1 178846734 178846734 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152663.3 +1 validated p.R237* 1.000 131 0% 65 32.3% 1 0% - - - HMMSmart_SM00147,superfamily_Ras GEF RALGPS2 55103 genome.wustl.edu 37 1 178855144 178855144 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152663.3 +1 validated p.T361P 1.000 77 0% 45 40% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RALGPS2 55103 genome.wustl.edu 37 1 178861421 178861421 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152663.3 +1 validated p.R435Q 1.000 47 0% 25 36% 1 100% benign(0.07) deleterious(0.03) neutral(0.369) NULL ABL2 27 genome.wustl.edu 37 1 179087736 179087736 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007314.3 -1 reviewed p.K403N 1.000 115 0% 102 27.5% 3 0% probably_damaging(0.98) tolerated(0.07) deleterious(0.743) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SOAT1 6646 genome.wustl.edu 37 1 179292575 179292575 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003101.4 +1 provisional p.R41Q 0.313 127 0% 60 41.7% 18 38.8% benign(0.005) tolerated(0.25) neutral(0.037) NULL SOAT1 6646 genome.wustl.edu 37 1 179307002 179307002 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003101.4 +1 provisional p.K120N 0.984 258 0% 161 30.4% 13 53.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SOAT1 6646 genome.wustl.edu 37 1 179320492 179320492 + Silent SNP G G A rs189625699 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003101.4 +1 provisional p.P497 0.284 203 0% 133 31.6% 19 47.3% - - - HMMPfam_MBOAT AXDND1 126859 genome.wustl.edu 37 1 179352676 179352676 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144696.4 +1 validated p.T246 0.953 150 0% 73 34.2% 0 - - - - NULL TOR1AIP2 163590 genome.wustl.edu 37 1 179816713 179816713 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145034.3 -1 validated p.Q204H 0.011 479 0% 395 30.6% 2 0% benign(0) tolerated(0.13) neutral(0.253) HMMPfam_LAP1C CEP350 9857 genome.wustl.edu 37 1 179989553 179989553 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014810.4 +1 reviewed p.K882E 1.000 76 0% 53 24.5% 5 40% benign(0.095) deleterious(0.04) neutral(0.356) NULL QSOX1 5768 genome.wustl.edu 37 1 180163427 180163427 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002826.4 +1 reviewed p.F456 0.771 21 0% 39 33.3% 155 46.4% - - - HMMPfam_Evr1_Alr,superfamily_FAD-dependent thiol oxidase XPR1 9213 genome.wustl.edu 37 1 180832992 180832992 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004736.3 +1 validated p.E550D 1.000 139 0% 102 26.5% 49 36.7% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_EXS XPR1 9213 genome.wustl.edu 37 1 180849374 180849374 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004736.3 +1 validated p.K657N 1.000 125 0% 96 26% 81 49.3% benign(0.018) tolerated(0.11) neutral(0.272) NULL CACNA1E 777 genome.wustl.edu 37 1 181726111 181726111 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000721.2 +1 reviewed p.R1393H 1.000 250 0.4% 105 38.1% 0 - benign(0.05) tolerated(0.17) neutral(0.062) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181727095 181727095 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000721.2 +1 reviewed p.D1448N 1.000 89 0% 38 31.6% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL RGSL1 353299 genome.wustl.edu 37 1 182458181 182458181 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137669.1 +1 validated p.L521I 0.014 85 0% 50 26% 0 - - - - NULL RGSL1 353299 genome.wustl.edu 37 1 182509381 182509381 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137669.1 +1 validated e15-1 0.873 119 0% 56 42.9% 0 - - - - - RNASEL 6041 genome.wustl.edu 37 1 182554923 182554923 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021133.2 -1 reviewed p.S340N 0.318 54 0% 34 38.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DHX9 1660 genome.wustl.edu 37 1 182850469 182850469 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001357.4 +1 reviewed p.R899W 0.977 129 0% 83 33.7% 123 86.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HA2 DHX9 1660 genome.wustl.edu 37 1 182852658 182852658 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001357.4 +1 reviewed p.R1050* 1.000 121 0% 66 40.9% 193 5.1% - - - HMMPfam_DUF1605 DHX9 1660 genome.wustl.edu 37 1 182856453 182856453 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001357.4 +1 reviewed p.D1233Y 1.000 201 0.5% 179 29.1% 219 65.2% unknown(0) deleterious(0.04) - NULL LAMC1 3915 genome.wustl.edu 37 1 183096387 183096387 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002293.3 +1 reviewed p.L991F 0.000 121 0% 93 25.8% 50 28% benign(0.198) deleterious(0.04) neutral(0.368) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 LAMC1 3915 genome.wustl.edu 37 1 183101667 183101667 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002293.3 +1 reviewed p.N1233 0.993 149 0% 83 26.5% 65 56.9% - - - NULL LAMC1 3915 genome.wustl.edu 37 1 183111751 183111751 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002293.3 +1 reviewed p.S1552 0.327 93 0% 58 24.1% 83 39.7% - - - NULL LAMC2 3918 genome.wustl.edu 37 1 183191280 183191280 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005562.2 +1 reviewed p.S233P 1.000 164 0% 145 15.2% 6 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL NCF2 4688 genome.wustl.edu 37 1 183536425 183536425 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000433.3 -1 reviewed p.E257* 0.992 109 0% 95 33.7% 15 0% - - - HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 APOBEC4 403314 genome.wustl.edu 37 1 183617714 183617714 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203454.2 -1 reviewed p.F68C 1.000 296 0% 205 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_APOBEC_N C1orf21 81563 genome.wustl.edu 37 1 184559933 184559933 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030806.3 +1 validated p.H84Y 1.000 169 0% 114 34.2% 30 33.3% possibly_damaging(0.666) tolerated(0.11) deleterious(0.508) NULL EDEM3 80267 genome.wustl.edu 37 1 184663442 184663442 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025191.3 -1 validated p.M852L 0.000 234 0% 89 24.7% 4 75% benign(0) tolerated(0.12) neutral(0.261) NULL EDEM3 80267 genome.wustl.edu 37 1 184688343 184688343 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025191.3 -1 validated p.H372N 1.000 89 0% 97 30.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 EDEM3 80267 genome.wustl.edu 37 1 184695461 184695461 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025191.3 -1 validated p.C225 0.999 135 0% 62 22.6% 3 0% - - - HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 FAM129A 116496 genome.wustl.edu 37 1 184868421 184868421 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052966.2 -1 validated p.K26T 1.000 143 0% 50 36% 5 20% probably_damaging(1) tolerated(0.32) deleterious(0.524) NULL TRMT1L 81627 genome.wustl.edu 37 1 185089353 185089353 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030934.4 -1 reviewed p.R667Q 1.000 78 0% 27 29.6% 8 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TRM,superfamily_S-adenosyl-L-methionine-dependent methyltransferases SWT1 54823 genome.wustl.edu 37 1 185191052 185191052 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105518.1 +1 validated p.K731 0.015 171 0% 82 11% 3 0% - - - NULL IVNS1ABP 10625 genome.wustl.edu 37 1 185269360 185269360 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006469.4 -1 validated p.R453H 1.000 182 0% 63 39.7% 154 41.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain HMCN1 83872 genome.wustl.edu 37 1 185984479 185984479 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031935.2 +1 reviewed p.R1607* 0.671 73 0% 45 35.6% 2 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185987360 185987360 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031935.2 +1 reviewed p.K1782N 0.960 188 0% 57 31.6% 0 - benign(0.287) tolerated(0.19) neutral(0.138) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185987376 185987376 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031935.2 +1 reviewed p.R1788C 0.980 184 0% 51 29.4% 1 0% probably_damaging(0.993) tolerated(0.05) deleterious(0.795) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186082064 186082064 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031935.2 +1 reviewed p.E3704* 1.000 95 0% 71 36.6% 1 0% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186113763 186113763 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031935.2 +1 reviewed p.P4732S 1.000 134 0% 53 26.4% 7 85.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat PRG4 10216 genome.wustl.edu 37 1 186269267 186269267 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005807.3 +1 reviewed p.D41Y 1.000 78 0% 95 33.7% 0 - unknown(0) - - HMMPfam_Somatomedin_B,HMMSmart_SM00201,superfamily_Somatomedin B domain PRG4 10216 genome.wustl.edu 37 1 186275471 186275471 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005807.3 +1 reviewed p.R207I 0.000 106 0% 132 27.3% 0 - unknown(0) - - NULL PRG4 10216 genome.wustl.edu 37 1 186277029 186277029 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005807.3 +1 reviewed p.K726N 0.001 423 0% 552 25.2% 0 - unknown(0) tolerated(0.23) - NULL PRG4 10216 genome.wustl.edu 37 1 186277937 186277937 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005807.3 +1 reviewed p.K1029I 0.328 283 0% 383 33.2% 0 - unknown(0) - - NULL TPR 7175 genome.wustl.edu 37 1 186289548 186289548 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003292.2 -1 reviewed p.S2155L 1.000 121 0% 67 32.8% 112 41.9% probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL TPR 7175 genome.wustl.edu 37 1 186308862 186308862 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003292.2 -1 reviewed p.R1355W 1.000 195 0% 72 37.5% 15 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TPR 7175 genome.wustl.edu 37 1 186329918 186329918 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003292.2 -1 reviewed p.L360I 1.000 246 0% 117 14.5% 8 0% probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL PLA2G4A 5321 genome.wustl.edu 37 1 186880450 186880450 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024420.2 +1 reviewed p.E163* 1.000 140 0% 90 33.3% 10 30% - - - HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like PLA2G4A 5321 genome.wustl.edu 37 1 186934649 186934649 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024420.2 +1 reviewed p.R563K 1.000 157 0% 184 12% 30 26.6% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like RGS1 5996 genome.wustl.edu 37 1 192545950 192545950 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002922.3 +1 reviewed p.L89F 1.000 185 0% 90 33.3% 26 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS TROVE2 6738 genome.wustl.edu 37 1 193045117 193045117 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004600.5 +1 validated p.E250* 1.000 74 0% 47 17% 2 0% - - - HMMPfam_TROVE TROVE2 6738 genome.wustl.edu 37 1 193051325 193051325 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004600.5 +1 validated p.R405* 1.000 124 0% 45 33.3% 7 28.5% - - - NULL CDC73 79577 genome.wustl.edu 37 1 193091432 193091432 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024529.4 +1 reviewed p.K34N 1.000 72 0% 130 23.8% 49 51% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KCNT2 343450 genome.wustl.edu 37 1 196300308 196300308 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198503.2 -1 validated p.F694C 1.000 102 0% 57 36.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KCNT2 343450 genome.wustl.edu 37 1 196398760 196398760 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198503.2 -1 validated p.K256E 1.000 110 0% 35 17.1% 0 - benign(0.228) deleterious(0) neutral(0.467) HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels CFHR3 10878 genome.wustl.edu 37 1 196762638 196762638 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021023.5 +1 reviewed p.E330K 0.358 109 0% 164 28% 1 0% possibly_damaging(0.484) deleterious(0) deleterious(0.605) NULL CFHR1 3078 genome.wustl.edu 37 1 196794753 196794753 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002113.2 +1 reviewed p.R69C 0.002 194 0% 141 31.9% 0 - probably_damaging(0.994) tolerated(0.14) deleterious(0.702) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR4 10877 genome.wustl.edu 37 1 196883707 196883707 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006684.2 +1 validated p.Y174 0.446 176 0% 91 37.4% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR2 3080 genome.wustl.edu 37 1 196928013 196928013 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005666.2 +1 validated p.P206T 0.000 67 0% 26 23.1% 0 - benign(0.004) tolerated(0.08) neutral(0.300) superfamily_Complement control module/SCR domain CFHR5 81494 genome.wustl.edu 37 1 196953220 196953220 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030787.3 +1 reviewed p.S128L 0.000 77 0% 67 35.8% 0 - benign(0.341) tolerated(0.05) neutral(0.453) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR5 81494 genome.wustl.edu 37 1 196964960 196964960 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030787.3 +1 reviewed p.F241L 0.020 194 0% 93 26.9% 0 - possibly_damaging(0.86) deleterious(0.01) deleterious(0.738) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197057435 197057435 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018136.4 -1 reviewed p.K3371T 1.000 91 0% 41 31.7% 9 22.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ASPM 259266 genome.wustl.edu 37 1 197065198 197065198 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018136.4 -1 reviewed p.E2973* 0.237 197 0% 53 28.3% 2 0% - - - HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197065207 197065207 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018136.4 -1 reviewed p.A2970T 0.728 205 0% 56 32.1% 0 - benign(0.103) tolerated(0.33) neutral(0.032) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197070045 197070045 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018136.4 -1 reviewed p.R2779I 0.001 91 0% 42 19% 6 50% probably_damaging(0.986) tolerated(0.2) deleterious(0.483) superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197070610 197070610 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018136.4 -1 reviewed p.K2591Q 0.974 117 0% 61 29.5% 0 - possibly_damaging(0.752) tolerated(0.13) deleterious(0.528) superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197071325 197071325 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018136.4 -1 reviewed p.M2352I 0.000 124 0% 28 42.9% 2 0% benign(0.004) tolerated(0.41) neutral(0.015) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197071392 197071392 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018136.4 -1 reviewed p.R2330M 0.000 145 0% 50 40% 1 100% benign(0.149) deleterious(0.01) neutral(0.419) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197072338 197072338 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018136.4 -1 reviewed p.H2015N 0.000 132 0% 68 26.5% 2 50% benign(0.023) tolerated(0.31) neutral(0.028) superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197072778 197072778 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018136.4 -1 reviewed p.R1868I 0.345 135 0% 58 36.2% 4 50% probably_damaging(0.976) deleterious(0.02) deleterious(0.801) HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197112016 197112016 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018136.4 -1 reviewed p.E456* 0.003 135 0% 161 34.2% 0 - - - - NULL ZBTB41 360023 genome.wustl.edu 37 1 197141302 197141302 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194314.2 -1 validated p.R688* 1.000 66 0% 39 30.8% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZBTB41 360023 genome.wustl.edu 37 1 197169075 197169075 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194314.2 -1 validated p.E177K 1.000 97 0% 159 23.9% 2 0% possibly_damaging(0.722) deleterious(0) deleterious(0.707) HMMSmart_SM00225,HMMPfam_BTB CRB1 23418 genome.wustl.edu 37 1 197397005 197397005 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201253.1 +1 reviewed p.G850 1.000 87 0% 41 19.5% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CRB1 23418 genome.wustl.edu 37 1 197404293 197404293 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201253.1 +1 reviewed p.I1100 1.000 64 0% 31 25.8% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 PTPRC 5788 genome.wustl.edu 37 1 198725100 198725100 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002838.3 +1 reviewed p.K1235N 1.000 93 0% 32 18.8% 70 1.4% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL NR5A2 2494 genome.wustl.edu 37 1 200017379 200017379 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_205860.1 +1 validated p.Q181H 1.000 90 0% 121 39.7% 49 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nuclear receptor ligand-binding domain KIF14 9928 genome.wustl.edu 37 1 200534279 200534279 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014875.2 -1 validated p.P1330H 0.004 76 0% 74 14.9% 6 16.6% possibly_damaging(0.462) deleterious(0) deleterious(0.596) NULL KIF14 9928 genome.wustl.edu 37 1 200558376 200558376 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014875.2 -1 validated p.R1028Q 0.998 361 0% 151 34.4% 2 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL CAMSAP2 23271 genome.wustl.edu 37 1 200817192 200817192 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203459.1 +1 validated p.S432Y 1.000 71 0% 25 40% 4 50% possibly_damaging(0.669) deleterious(0.01) deleterious(0.643) NULL CAMSAP2 23271 genome.wustl.edu 37 1 200817378 200817378 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203459.1 +1 validated p.S494Y 0.186 72 0% 56 26.8% 3 33.3% benign(0.124) tolerated(0.05) neutral(0.355) NULL CAMSAP2 23271 genome.wustl.edu 37 1 200818688 200818688 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203459.1 +1 validated p.R931* 0.013 43 0% 35 22.9% 11 54.5% - - - NULL CAMSAP2 23271 genome.wustl.edu 37 1 200819353 200819353 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203459.1 +1 validated p.F1152L 1.000 185 0% 113 29.2% 5 40% probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL CAMSAP2 23271 genome.wustl.edu 37 1 200822455 200822455 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203459.1 +1 validated p.E1219* 1.000 119 0% 61 29.5% 3 66.6% - - - NULL KIF21B 23046 genome.wustl.edu 37 1 200948758 200948758 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017596.2 -1 provisional p.K1342N 1.000 89 0% 158 32.9% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CACNA1S 779 genome.wustl.edu 37 1 201027559 201027559 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000069.2 -1 reviewed p.D1196Y 1.000 115 0% 107 34.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201041947 201041947 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000069.2 -1 reviewed p.K721N 1.000 123 0% 137 39.4% 0 - benign(0.399) tolerated(0.39) neutral(0.145) NULL CACNA1S 779 genome.wustl.edu 37 1 201042743 201042743 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000069.2 -1 reviewed p.E697D 0.999 197 0% 193 26.9% 0 - probably_damaging(0.992) tolerated(0.17) deleterious(0.506) NULL CACNA1S 779 genome.wustl.edu 37 1 201044636 201044636 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000069.2 -1 reviewed p.F645 0.901 83 0% 91 36.3% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201047034 201047034 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000069.2 -1 reviewed p.R531H 1.000 27 0% 27 48.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans,superfamily_SSF81324 IGFN1 91156 genome.wustl.edu 37 1 201169383 201169383 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000451870 +1 known p.K159N 0.633 62 0% 64 42.2% 0 - benign(0.235) deleterious(0.01) neutral(0.429) NULL PKP1 5317 genome.wustl.edu 37 1 201263172 201263172 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000299.2 +1 reviewed p.P102L 1.000 98 0% 73 31.5% 0 - benign(0.156) deleterious(0.01) neutral(0.420) NULL PKP1 5317 genome.wustl.edu 37 1 201287898 201287898 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000299.2 +1 reviewed p.F403V 1.000 90 0% 76 36.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat TNNT2 7139 genome.wustl.edu 37 1 201330449 201330449 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000364.2 -1 reviewed p.E253D 1.000 129 0% 164 33.5% 5 20% probably_damaging(0.999) tolerated(0.24) deleterious(0.528) NULL LAD1 3898 genome.wustl.edu 37 1 201355838 201355838 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005558.3 -1 reviewed p.K217 0.572 101 0% 123 30.9% 20 55% - - - NULL NAV1 89796 genome.wustl.edu 37 1 201777715 201777715 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020443.4 +1 reviewed p.R1336W 1.000 61 0% 84 27.4% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IPO9 55705 genome.wustl.edu 37 1 201832707 201832707 + Nonsense_Mutation SNP C C T rs12135069 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018085.4 +1 validated p.R534* 1.000 115 0% 59 35.6% 39 12.8% - - - superfamily_ARM repeat RNPEP 6051 genome.wustl.edu 37 1 201965345 201965345 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020216.3 +1 validated p.F270V 1.000 340 0% 304 35.9% 163 47.8% possibly_damaging(0.527) deleterious(0.02) deleterious(0.561) HMMPfam_Peptidase_M1,superfamily_SSF55486 LGR6 59352 genome.wustl.edu 37 1 202276023 202276023 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017403.1 +1 reviewed p.E388D 0.993 38 0% 36 36.1% 0 - possibly_damaging(0.755) tolerated(0.25) neutral(0.316) HMMSmart_SM00369,superfamily_RNI-like LGR6 59352 genome.wustl.edu 37 1 202278220 202278220 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017403.1 +1 reviewed p.G441E 1.000 82 0% 93 43% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like PPP1R12B 4660 genome.wustl.edu 37 1 202394734 202394734 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032105.2 +1 reviewed p.Q194 0.999 140 0% 102 27.5% 1 0% - - - superfamily_Ankyrin repeat PPP1R12B 4660 genome.wustl.edu 37 1 202396302 202396302 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032105.2 +1 reviewed p.R279Q 0.999 170 0% 92 31.5% 1 100% possibly_damaging(0.501) tolerated(0.56) neutral(0.174) HMMPfam_Ank,superfamily_Ankyrin repeat PPP1R12B 4660 genome.wustl.edu 37 1 202399863 202399863 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032105.2 +1 reviewed p.R309Q 1.000 172 0% 159 30.2% 1 0% possibly_damaging(0.707) tolerated(0.15) deleterious(0.496) NULL PPFIA4 8497 genome.wustl.edu 37 1 203037706 203037706 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015053.1 +1 validated p.D586N 1.000 101 0% 148 39.2% 10 50% probably_damaging(0.987) tolerated(0.17) deleterious(0.495) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 MYBPH 4608 genome.wustl.edu 37 1 203139454 203139454 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004997.2 -1 validated p.T353N 0.118 167 0% 218 16.1% 0 - benign(0.017) deleterious(0.03) neutral(0.365) superfamily_FN_III-like CHIT1 1118 genome.wustl.edu 37 1 203191443 203191443 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003465.2 -1 reviewed p.F206V 1.000 65 0% 44 38.6% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases REN 5972 genome.wustl.edu 37 1 204129790 204129790 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000537.3 -1 reviewed p.F130 0.995 109 0% 167 31.7% 12 0% - - - HMMPfam_Asp,superfamily_Acid proteases PPP1R15B 84919 genome.wustl.edu 37 1 204379444 204379444 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032833.3 -1 validated p.E366* 0.013 54 0% 86 26.7% 7 14.2% - - - HMMPfam_CReP_N NFASC 23114 genome.wustl.edu 37 1 204913366 204913366 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000367169 +1 known p.Q41K 0.007 37 0% 38 23.7% 0 - - - - NULL NFASC 23114 genome.wustl.edu 37 1 204919692 204919692 + Silent SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000367173 +1 known p.F3Y 1.000 290 0% 276 41.3% 1 0% - - - NULL NFASC 23114 genome.wustl.edu 37 1 204937992 204937992 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015090.3 +1 reviewed p.E306D 1.000 72 0% 73 30.1% 3 0% possibly_damaging(0.457) deleterious(0.01) deleterious(0.555) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CNTN2 6900 genome.wustl.edu 37 1 205042351 205042351 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005076.2 +1 reviewed p.I1000 1.000 33 0% 35 37.1% 2 0% - - - superfamily_FN_III-like TMEM81 388730 genome.wustl.edu 37 1 205052943 205052943 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203376.1 -1 validated p.R169K 0.026 122 0% 60 35% 4 25% benign(0) tolerated(0.35) neutral(0.021) HMMSmart_IG,superfamily_SSF48726 MFSD4 148808 genome.wustl.edu 37 1 205568357 205568357 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181644.4 +1 validated p.R489 1.000 484 0% 292 33.6% 3 33.3% - - - superfamily_MFS_gen_substrate_transporter ELK4 2005 genome.wustl.edu 37 1 205588164 205588164 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001973.2 -1 reviewed p.S373I 1.000 114 0% 87 16.1% 15 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RAB7L1 8934 genome.wustl.edu 37 1 205739534 205739534 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135662.1 -1 validated p.S183Y 0.991 148 0% 187 32.1% 13 15.3% benign(0.004) tolerated(0.16) neutral(0.059) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases PM20D1 148811 genome.wustl.edu 37 1 205813249 205813249 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152491.4 -1 validated p.D225Y 0.948 64 0% 82 29.3% 0 - benign(0.068) deleterious(0.01) neutral(0.410) HMMPfam_Peptidase_M20,superfamily_Zn-dependent exopeptidases FAM72A 729533 genome.wustl.edu 37 1 206141486 206141486 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001123168.1 +1 predicted p.C65G 1.000 623 0% 694 10.5% 6 16.6% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL PIGR 5284 genome.wustl.edu 37 1 207110916 207110916 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002644.3 -1 reviewed p.R190I 0.444 69 0% 67 40.3% 367 53.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CR2 1380 genome.wustl.edu 37 1 207643310 207643310 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006658.2 +1 reviewed p.S363Y 0.005 121 0% 60 36.7% 0 - possibly_damaging(0.908) deleterious(0.02) deleterious(0.744) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR1 1378 genome.wustl.edu 37 1 207785378 207785378 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000651.4 +1 reviewed p.C2189 0.563 239 0% 164 36% 2 0% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1L 1379 genome.wustl.edu 37 1 207850826 207850826 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175710.1 +1 validated p.E64* 0.046 215 0% 199 27.1% 2 50% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1L 1379 genome.wustl.edu 37 1 207850885 207850885 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175710.1 +1 validated p.V83 0.226 210 0% 193 29% 1 0% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain LAMB3 3914 genome.wustl.edu 37 1 209796425 209796425 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000228.2 -1 reviewed p.G820S 0.982 24 0% 44 31.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LAMB3 3914 genome.wustl.edu 37 1 209797000 209797000 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000228.2 -1 reviewed p.S736 0.009 57 0% 59 35.6% 2 50% - - - NULL LAMB3 3914 genome.wustl.edu 37 1 209811991 209811991 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000228.2 -1 reviewed p.W62* 1.000 51 0% 44 25% 2 0% - - - HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like SERTAD4 56256 genome.wustl.edu 37 1 210415460 210415460 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019605.3 +1 validated p.D283 0.002 103 0% 130 30.8% 1 0% - - - NULL NEK2 4751 genome.wustl.edu 37 1 211847036 211847036 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002497.2 -1 validated p.R115Q 1.000 44 0% 69 30.4% 46 43.4% probably_damaging(0.981) deleterious(0.02) deleterious(0.808) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NEK2 4751 genome.wustl.edu 37 1 211847640 211847640 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002497.2 -1 validated p.E104D 0.997 157 0% 245 14.7% 40 15% benign(0) tolerated(0.71) neutral(0.002) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase INTS7 25896 genome.wustl.edu 37 1 212193518 212193518 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015434.2 -1 provisional p.R106I 1.000 169 0% 231 29.4% 4 50% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_ARM repeat PPP2R5A 5525 genome.wustl.edu 37 1 212502672 212502672 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006243.2 +1 reviewed p.M126T 1.000 178 0% 172 39.5% 19 31.5% benign(0.208) deleterious(0.02) neutral(0.403) HMMPfam_B56,superfamily_ARM repeat BATF3 55509 genome.wustl.edu 37 1 212860285 212860285 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018664.2 -1 reviewed p.R78W 1.000 139 0% 114 24.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BRLZ,HMMPfam_bZIP_1 RPS6KC1 26750 genome.wustl.edu 37 1 213414983 213414983 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012424.3 +1 validated p.E722* 0.770 71 0% 28 28.6% 6 33.3% - - - NULL PROX1 5629 genome.wustl.edu 37 1 214170575 214170575 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002763.3 +1 provisional p.R233* 1.000 28 0% 54 27.8% 0 - - - - HMMPfam_Prox1 PROX1 5629 genome.wustl.edu 37 1 214171593 214171593 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002763.3 +1 provisional p.S572L 1.000 52 0% 74 51.4% 0 - possibly_damaging(0.89) deleterious(0.04) deleterious(0.699) HMMPfam_Prox1 SMYD2 56950 genome.wustl.edu 37 1 214500974 214500974 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020197.2 +1 validated p.L204F 1.000 130 0% 102 10.8% 66 24.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SET,superfamily_SSF82199 CENPF 1063 genome.wustl.edu 37 1 214788267 214788267 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016343.3 +1 reviewed p.K85N 1.000 118 0% 106 32.1% 4 75% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Cenp-F_N CENPF 1063 genome.wustl.edu 37 1 214815334 214815334 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016343.3 +1 reviewed p.R1218I 0.014 23 0% 20 30% 12 33.3% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL KCNK2 3776 genome.wustl.edu 37 1 215259908 215259908 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017425.2 +1 reviewed p.A82S 1.000 104 0% 124 37.9% 0 - benign(0.027) tolerated(0.13) neutral(0.254) superfamily_Voltage-gated potassium channels USH2A 7399 genome.wustl.edu 37 1 215844436 215844436 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206933.2 -1 reviewed p.E4671K 1.000 234 0% 66 25.8% 1 0% possibly_damaging(0.932) tolerated(0.57) neutral(0.385) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215847677 215847677 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206933.2 -1 reviewed p.R4526* 0.020 111 0% 50 30% 2 0% - - - superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215848679 215848679 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206933.2 -1 reviewed p.R4192C 1.000 150 0% 57 40.4% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216221913 216221913 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206933.2 -1 reviewed p.E2042 1.000 167 0% 108 9.3% 3 100% - - - HMMPfam_fn3,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216270537 216270537 + Missense_Mutation SNP C C T rs190170807 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206933.2 -1 reviewed p.R1549Q 1.000 85 0% 48 22.9% 4 0% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMSmart_SM00282,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 USH2A 7399 genome.wustl.edu 37 1 216371855 216371855 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206933.2 -1 reviewed p.R1295* 0.008 156 0% 66 25.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases USH2A 7399 genome.wustl.edu 37 1 216498785 216498785 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206933.2 -1 reviewed p.L335F 1.000 77 0% 42 21.4% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Laminin_N,HMMSmart_SM00136 USH2A 7399 genome.wustl.edu 37 1 216595445 216595445 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206933.2 -1 reviewed p.F78L 0.153 142 0% 88 27.3% 0 - benign(0) tolerated(0.9) - NULL SPATA17 128153 genome.wustl.edu 37 1 217822288 217822288 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138796.2 +1 provisional p.G45* 1.000 176 0% 123 25.2% 0 - - - - HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases RRP15 51018 genome.wustl.edu 37 1 218478455 218478455 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016052.3 +1 reviewed p.R164I 1.000 178 0% 107 32.7% 29 58.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Rrp15p EPRS 2058 genome.wustl.edu 37 1 220156132 220156132 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004446.2 -1 reviewed p.R1119C 1.000 120 0% 51 15.7% 119 43.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2b,superfamily_SSF55681 RAB3GAP2 25782 genome.wustl.edu 37 1 220331161 220331161 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012414.3 -1 reviewed p.L1107F 1.000 147 0% 55 21.8% 15 66.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL MARC2 54996 genome.wustl.edu 37 1 220936264 220936264 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017898.3 +1 provisional p.D208Y 0.931 187 0.5% 168 24.4% 14 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PK beta-barrel domain-like DUSP10 11221 genome.wustl.edu 37 1 221875829 221875829 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007207.3 -1 reviewed p.F458 0.996 169 0% 173 30.1% 13 38.4% - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II MIA3 375056 genome.wustl.edu 37 1 222798158 222798158 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198551.2 +1 validated p.H106N 1.000 182 0% 206 32% 7 14.2% probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_SH3-domain MIA3 375056 genome.wustl.edu 37 1 222801961 222801961 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198551.2 +1 validated p.K467Q 0.005 48 0% 53 49.1% 15 40% benign(0.009) deleterious(0.01) neutral(0.406) NULL MIA3 375056 genome.wustl.edu 37 1 222818993 222818993 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198551.2 +1 validated p.S1192L 0.579 459 0% 409 36.9% 40 52.5% possibly_damaging(0.737) tolerated(0.12) deleterious(0.530) NULL MIA3 375056 genome.wustl.edu 37 1 222835662 222835662 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000450260 +1 known p.R35* 0.497 79 0% 45 13.3% 83 9.6% - - - NULL BROX 148362 genome.wustl.edu 37 1 222904777 222904777 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144695.2 +1 validated p.F356 0.869 135 0% 102 29.4% 22 45.4% - - - HMMPfam_BRO1 DISP1 84976 genome.wustl.edu 37 1 223116209 223116209 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032890.2 +1 reviewed p.N15S 1.000 95 0% 103 23.3% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DISP1 84976 genome.wustl.edu 37 1 223177976 223177976 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032890.2 +1 reviewed p.V1079 1.000 91 0% 62 32.3% 5 40% - - - HMMPfam_Patched,superfamily_SSF82866 TLR5 7100 genome.wustl.edu 37 1 223284994 223284994 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003268.5 -1 reviewed p.F460L 0.932 101 0% 135 30.4% 5 40% benign(0) tolerated(1) - superfamily_SSF52058 TP53BP2 7159 genome.wustl.edu 37 1 223971876 223971876 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031685.2 -1 reviewed p.E1102K 1.000 141 0% 98 26.5% 17 23.5% benign(0.028) deleterious(0.05) neutral(0.347) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_ANK TP53BP2 7159 genome.wustl.edu 37 1 223991077 223991077 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031685.2 -1 reviewed p.E243* 1.000 143 0% 50 30% 9 22.2% - - - NULL NVL 4931 genome.wustl.edu 37 1 224463086 224463086 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002533.2 -1 validated p.F679L 1.000 113 0% 105 23.8% 21 38% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases CNIH4 29097 genome.wustl.edu 37 1 224544683 224544683 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014184.2 +1 provisional p.L19 0.986 156 0% 317 33.4% 120 37.5% - - - HMMPfam_Cornichon DNAH14 127602 genome.wustl.edu 37 1 225195125 225195125 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001373.1 +1 validated p.S329F 0.914 98 0% 34 20.6% 0 - benign(0.045) tolerated(0.1) neutral(0.289) NULL DNAH14 127602 genome.wustl.edu 37 1 225306929 225306929 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001373.1 +1 validated p.R1367C 0.994 48 0% 17 47.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 DNAH14 127602 genome.wustl.edu 37 1 225525838 225525838 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001373.1 +1 validated p.F3370L 0.993 169 0% 122 19.7% 0 - benign(0.025) tolerated(1) neutral(0.001) NULL DNAH14 127602 genome.wustl.edu 37 1 225555648 225555648 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001373.1 +1 validated p.F3985I 0.998 140 0% 94 26.6% 0 - benign(0.026) deleterious(0.04) neutral(0.350) HMMPfam_Dynein_heavy C1orf55 163859 genome.wustl.edu 37 1 226173020 226173020 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152608.3 -1 validated p.K447E 0.998 129 0% 101 37.6% 6 33.3% possibly_damaging(0.862) deleterious(0) deleterious(0.778) NULL LIN9 286826 genome.wustl.edu 37 1 226465561 226465561 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173083.2 -1 provisional p.Q215 1.000 256 0% 261 35.2% 4 50% - - - HMMPfam_DIRP ITPKB 3707 genome.wustl.edu 37 1 226825442 226825442 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002221.3 -1 reviewed p.R855W 1.000 118 0% 149 34.2% 18 44.4% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_IPK,superfamily_SAICAR synthase-like PSEN2 5664 genome.wustl.edu 37 1 227069694 227069694 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000447.2 +1 reviewed p.R29H 0.959 24 0% 30 33.3% 20 35% benign(0.002) tolerated(0.08) neutral(0.300) NULL ADCK3 56997 genome.wustl.edu 37 1 227152729 227152729 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020247.4 +1 reviewed p.A69D 0.000 54 0% 90 18.9% 9 11.1% benign(0.039) tolerated(0.4) neutral(0.018) NULL ADCK3 56997 genome.wustl.edu 37 1 227171313 227171313 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020247.4 +1 reviewed p.M381L 1.000 33 0% 81 42% 22 50% benign(0.001) tolerated(0.3) neutral(0.029) HMMPfam_ABC1,superfamily_Protein kinase-like (PK-like) CDC42BPA 8476 genome.wustl.edu 37 1 227216516 227216516 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003607.3 -1 reviewed p.S1390* 0.840 113 0% 73 31.5% 1 0% - - - HMMPfam_CNH,HMMSmart_CNH CDC42BPA 8476 genome.wustl.edu 37 1 227221038 227221038 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000442054 -1 known p.*479Q 1.000 96 0% 119 21.8% 4 50% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CDC42BPA 8476 genome.wustl.edu 37 1 227268605 227268605 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003607.3 -1 reviewed p.E823D 1.000 330 0% 180 44.4% 2 50% possibly_damaging(0.754) tolerated(0.24) neutral(0.316) NULL CDC42BPA 8476 genome.wustl.edu 37 1 227268640 227268640 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003607.3 -1 reviewed p.E812* 1.000 351 0% 197 17.8% 2 0% - - - NULL LOC100130093 100130093 genome.wustl.edu 37 1 227921430 227921430 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_024485.1 +1 validated NULL 0.001 30 0% 52 26.9% 1 100% - - - - LOC100130093 100130093 genome.wustl.edu 37 1 227921893 227921893 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_024485.1 +1 validated NULL 0.012 8 0.000 14 0.429 1 0% - - - - OBSCN 84033 genome.wustl.edu 37 1 228473987 228473987 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098623.1 +1 reviewed p.K3071N 1.000 32 0% 31 48.4% 0 - probably_damaging(0.997) tolerated(0.48) deleterious(0.477) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228481172 228481172 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098623.1 +1 reviewed p.E3662D 0.002 117 0% 134 26.9% 3 33.3% unknown(0) tolerated(0.56) - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228509683 228509683 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098623.1 +1 reviewed p.D5047 1.000 25 0% 69 39.1% 1 100% - - - NULL OBSCN 84033 genome.wustl.edu 37 1 228527680 228527680 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098623.1 +1 reviewed p.D5765N 1.000 68 0% 144 25.7% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) OBSCN 84033 genome.wustl.edu 37 1 228538592 228538592 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098623.1 +1 reviewed p.E6123* 1.000 28 0% 75 20% 5 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin RAB4A 5867 genome.wustl.edu 37 1 229433322 229433322 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004578.2 +1 provisional p.K128N 1.000 96 0% 70 25.7% 97 37.1% probably_damaging(0.982) tolerated(0.34) neutral(0.450) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases NUP133 55746 genome.wustl.edu 37 1 229631308 229631308 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018230.2 -1 reviewed p.S327F 1.000 246 0% 172 37.2% 15 26.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nup133_N ABCB10 23456 genome.wustl.edu 37 1 229661841 229661841 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012089.2 -1 reviewed p.S583Y 1.000 65 0% 73 21.9% 14 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 ABCB10 23456 genome.wustl.edu 37 1 229676362 229676362 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012089.2 -1 reviewed p.F398L 1.000 172 0% 146 37.7% 10 60% possibly_damaging(0.812) deleterious(0) deleterious(0.750) HMMPfam_ABC_membrane,superfamily_ABC_TM_1 URB2 9816 genome.wustl.edu 37 1 229772856 229772856 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014777.2 +1 provisional p.G832 0.000 129 0% 123 13.8% 8 0% - - - NULL GALNT2 2590 genome.wustl.edu 37 1 230338891 230338891 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004481.3 +1 reviewed p.R77W 0.997 73 0% 62 30.6% 36 27.7% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL COG2 22796 genome.wustl.edu 37 1 230822824 230822824 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007357.2 +1 reviewed p.I508M 0.704 54 0% 39 38.5% 26 46.1% benign(0.047) tolerated(0.25) neutral(0.040) NULL AGT 183 genome.wustl.edu 37 1 230846067 230846067 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000029.3 -1 reviewed p.A177V 0.880 37 0% 31 45.2% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins TTC13 79573 genome.wustl.edu 37 1 231042706 231042706 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024525.4 -1 validated p.S843L 0.998 135 0% 112 37.5% 12 33.3% benign(0.309) deleterious(0.02) deleterious(0.480) NULL ARV1 64801 genome.wustl.edu 37 1 231131730 231131730 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022786.1 +1 provisional p.V225L 1.000 88 0% 46 37% 22 0% possibly_damaging(0.797) deleterious(0) deleterious(0.744) HMMPfam_Arv1 LOC644006 644006 genome.wustl.edu 37 1 231157378 231157378 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_929433.4 +1 model p.G8C 0.003 141 0% 106 26.4% 0 - - - - NULL LOC644006 644006 genome.wustl.edu 37 1 231157860 231157860 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_929433.4 +1 model p.K168 0.646 99 0% 63 31.7% 0 - - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box GNPAT 8443 genome.wustl.edu 37 1 231401482 231401482 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014236.3 +1 reviewed p.F241V 1.000 138 0% 61 34.4% 29 48.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 C1orf124 83932 genome.wustl.edu 37 1 231487247 231487247 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032018.4 +1 validated p.E216D 1.000 128 0% 87 24.1% 14 42.8% benign(0.38) tolerated(0.17) neutral(0.180) NULL C1orf124 83932 genome.wustl.edu 37 1 231488746 231488746 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032018.4 +1 validated p.R370I 0.013 93 0% 98 21.4% 9 33.3% possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL C1orf124 83932 genome.wustl.edu 37 1 231488759 231488759 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032018.4 +1 validated p.S374 0.000 80 0% 92 33.7% 9 55.5% - - - NULL KIAA1383 54627 genome.wustl.edu 37 1 232941931 232941931 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019090.2 +1 validated p.L388 0.001 164 0% 297 13.8% 1 0% - - - NULL KIAA1383 54627 genome.wustl.edu 37 1 232942970 232942970 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019090.2 +1 validated p.T734N 0.001 81 0% 114 33.3% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL NTPCR 84284 genome.wustl.edu 37 1 233091386 233091386 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032324.1 +1 provisional p.E40* 1.000 167 0% 206 31.6% 8 12.5% - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC35F3 148641 genome.wustl.edu 37 1 234041362 234041362 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173508.2 +1 provisional p.D47 1.000 16 0% 45 35.6% 0 - - - - NULL TARBP1 6894 genome.wustl.edu 37 1 234536999 234536999 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005646.3 -1 reviewed p.K1333N 1.000 143 0% 175 29.1% 32 59.3% benign(0.055) tolerated(0.46) neutral(0.015) NULL TARBP1 6894 genome.wustl.edu 37 1 234546220 234546220 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005646.3 -1 reviewed p.D1255Y 1.000 84 0% 78 26.9% 2 0% possibly_damaging(0.952) tolerated(0.84) neutral(0.396) superfamily_ARM-type_fold GGPS1 9453 genome.wustl.edu 37 1 235498608 235498608 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037277.1 +1 reviewed p.R10I 1.000 118 0% 148 31.1% 9 22.2% possibly_damaging(0.478) deleterious(0.01) deleterious(0.564) superfamily_Terpenoid_synth B3GALNT2 148789 genome.wustl.edu 37 1 235629002 235629002 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152490.2 -1 validated p.F264L 1.000 114 0% 72 34.7% 9 22.2% benign(0.009) deleterious(0.02) neutral(0.384) NULL LYST 1130 genome.wustl.edu 37 1 235880032 235880032 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000081.2 -1 reviewed p.R3203C 1.000 144 0% 68 29.4% 3 33.3% probably_damaging(1) - - HMMPfam_Beach,superfamily_BEACH domain LYST 1130 genome.wustl.edu 37 1 235916528 235916528 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000081.2 -1 reviewed p.S2426P 1.000 57 0% 39 23.1% 2 50% probably_damaging(0.984) - - NULL LYST 1130 genome.wustl.edu 37 1 235918905 235918905 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000081.2 -1 reviewed p.D2368Y 1.000 110 0% 60 31.7% 1 100% probably_damaging(0.992) - - NULL LYST 1130 genome.wustl.edu 37 1 235969265 235969265 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000081.2 -1 reviewed p.K1057N 0.018 136 0% 70 34.3% 1 0% benign(0.002) tolerated(0.34) neutral(0.023) NULL LYST 1130 genome.wustl.edu 37 1 235969998 235969998 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000081.2 -1 reviewed p.R813Q 1.000 120 0% 65 35.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LYST 1130 genome.wustl.edu 37 1 235972773 235972773 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000081.2 -1 reviewed p.V449I 1.000 78 0% 28 25% 0 - probably_damaging(0.996) tolerated(0.34) deleterious(0.485) NULL LGALS8 3964 genome.wustl.edu 37 1 236711336 236711336 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006499.3 +1 reviewed p.E319* 0.941 135 0% 102 30.4% 19 21% - - - HMMPfam_Gal-bind_lectin,HMMSmart_GLECT,superfamily_ConA_like_lec_gl HEATR1 55127 genome.wustl.edu 37 1 236766583 236766583 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018072.4 -1 validated p.R79Q 1.000 190 0% 150 37.3% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACTN2 88 genome.wustl.edu 37 1 236906324 236906324 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001103.2 +1 reviewed p.T412 0.000 117 0% 166 35.5% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MTR 4548 genome.wustl.edu 37 1 237024542 237024542 + Missense_Mutation SNP G G T rs190455607 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000254.2 +1 reviewed p.D721Y 1.000 238 0% 118 28% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_B12-binding_2,superfamily_Methionine synthase domain RYR2 6262 genome.wustl.edu 37 1 237540624 237540624 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001035.2 +1 reviewed p.G155 0.521 110 0% 60 38.3% 0 - - - - HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 RYR2 6262 genome.wustl.edu 37 1 237620023 237620023 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001035.2 +1 reviewed p.Y534H 1.000 135 0% 77 27.3% 0 - possibly_damaging(0.928) - - HMMPfam_RYDR_ITPR RYR2 6262 genome.wustl.edu 37 1 237863556 237863556 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001035.2 +1 reviewed p.S3052 0.061 68 0% 41 17.1% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237875111 237875111 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001035.2 +1 reviewed p.T3433P 0.002 117 0% 65 26.2% 0 - benign(0.001) - - NULL RYR2 6262 genome.wustl.edu 37 1 237880518 237880518 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001035.2 +1 reviewed p.E3448 0.996 115 0% 98 26.5% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237982395 237982395 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001035.2 +1 reviewed p.I4831 0.654 253 0% 171 15.2% 0 - - - - HMMPfam_Ion_trans CHRM3 1131 genome.wustl.edu 37 1 240070898 240070898 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000740.2 +1 reviewed p.F49L 1.000 85 0% 30 56.7% 0 - benign(0) tolerated(0.85) neutral(0.001) superfamily_SSF81321 RGS7 6000 genome.wustl.edu 37 1 240978044 240978044 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002924.4 -1 validated p.R273W 1.000 203 0% 147 35.4% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_G-gamma,HMMSmart_GGL,superfamily_G-protein_gamma-like CHML 1122 genome.wustl.edu 37 1 241798572 241798572 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001821.3 -1 reviewed p.S166* 0.001 212 0% 313 29.4% 15 40% - - - HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain WDR64 128025 genome.wustl.edu 37 1 241920634 241920634 + Missense_Mutation SNP T T G rs74150406 byCluster;byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144625.4 +1 validated p.V317G 0.000 184 0% 55 36.4% 0 - possibly_damaging(0.647) tolerated(0.12) deleterious(0.488) superfamily_WD40 repeat-like EXO1 9156 genome.wustl.edu 37 1 242020654 242020654 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006027.4 +1 reviewed p.R138Q 1.000 92 0% 152 35.5% 23 30.4% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_XPG_I,HMMSmart_SM00484,superfamily_PIN domain-like PLD5 200150 genome.wustl.edu 37 1 242271077 242271077 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152666.1 -1 provisional p.R287* 1.000 89 0% 40 25% 0 - - - - HMMPfam_PLD_envelope,superfamily_SSF56024 CEP170 9859 genome.wustl.edu 37 1 243291574 243291574 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014812.2 -1 reviewed p.K1481R 1.000 119 0% 56 21.4% 14 21.4% probably_damaging(0.98) tolerated(0.74) neutral(0.425) NULL CEP170 9859 genome.wustl.edu 37 1 243328246 243328246 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014812.2 -1 reviewed p.R1006C 1.000 246 0% 123 19.5% 8 37.5% benign(0.408) tolerated(0.05) deleterious(0.477) NULL SDCCAG8 10806 genome.wustl.edu 37 1 243437887 243437887 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006642.2 +1 validated p.D117N 0.517 95 0% 91 23.1% 10 20% benign(0.001) tolerated(0.75) neutral(0.002) NULL ADSS 159 genome.wustl.edu 37 1 244572911 244572911 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001126.2 -1 reviewed p.E450* 1.000 79 0% 65 26.2% 40 40% - - - HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,superfamily_P-loop containing nucleoside triphosphate hydrolases PPPDE1 51029 genome.wustl.edu 37 1 244855248 244855248 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016076.3 +1 validated p.G93* 1.000 129 0% 57 33.3% 12 41.6% - - - HMMPfam_DUF862 HNRNPU-AS1 284702 genome.wustl.edu 37 1 245005756 245005756 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026778.1 -1 predicted NULL 0.000 27 0% 28 25% 9 66.6% - - - - KIF26B 55083 genome.wustl.edu 37 1 245849515 245849515 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018012.3 +1 provisional p.S1077L 1.000 11 0% 27 37% 4 75% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL AHCTF1 25909 genome.wustl.edu 37 1 247013967 247013967 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015446.4 -1 validated p.E1781* 0.189 101 0% 68 19.1% 18 22.2% - - - NULL ZNF695 57116 genome.wustl.edu 37 1 247151184 247151184 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020394.3 -1 validated p.P211 0.003 82 0% 114 13.2% 2 50% - - - superfamily_C2H2 and C2HC zinc fingers ZNF670 93474 genome.wustl.edu 37 1 247201686 247201686 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033213.2 -1 validated p.Q79K 0.980 41 0% 41 31.7% 1 0% possibly_damaging(0.659) tolerated(0.11) deleterious(0.504) NULL ZNF496 84838 genome.wustl.edu 37 1 247464520 247464520 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032752.1 -1 provisional p.I355 0.262 48 0% 52 25% 24 45.8% - - - NULL NLRP3 114548 genome.wustl.edu 37 1 247582254 247582254 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079821.2 +1 reviewed p.D53G 0.870 43 0% 37 10.8% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_PAAD_DAPIN,superfamily_DEATH_like NLRP3 114548 genome.wustl.edu 37 1 247588414 247588414 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079821.2 +1 reviewed p.D557Y 0.077 105 0% 62 21% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP3 114548 genome.wustl.edu 37 1 247588595 247588595 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079821.2 +1 reviewed p.K617T 0.982 73 0% 36 22.2% 1 0% possibly_damaging(0.455) deleterious(0.03) deleterious(0.513) NULL NLRP3 114548 genome.wustl.edu 37 1 247599413 247599413 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079821.2 +1 reviewed p.K880N 0.006 116 0% 112 32.1% 0 - possibly_damaging(0.927) deleterious(0.01) deleterious(0.780) superfamily_SSF52047 OR2W5 441932 genome.wustl.edu 37 1 247654499 247654499 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004698.2 +1 validated p.E24K 0.096 217 0% 220 31.4% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR2C3 81472 genome.wustl.edu 37 1 247695427 247695427 + Silent SNP C C T rs34220133 byCluster;byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198074.4 -1 validated p.R129 0.998 93 0% 168 25.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2C3 81472 genome.wustl.edu 37 1 247695697 247695697 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198074.4 -1 validated p.S39 0.000 128 0% 246 36.6% 0 - - - - superfamily_SSF81321 OR2C3 81472 genome.wustl.edu 37 1 247695788 247695788 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198074.4 -1 validated p.S9Y 0.000 48 0% 90 41.1% 0 - benign(0.079) tolerated(1) neutral(0.005) superfamily_SSF81321 C1orf150 148823 genome.wustl.edu 37 1 247737634 247737634 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145278.3 +1 provisional p.P120S 0.003 124 0% 60 21.7% 0 - probably_damaging(0.958) tolerated(0.25) neutral(0.439) NULL OR14A16 284532 genome.wustl.edu 37 1 247978842 247978842 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001966.1 -1 provisional p.L64I 0.026 119 0% 83 31.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR14A16 284532 genome.wustl.edu 37 1 247978950 247978950 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001966.1 -1 provisional p.L28I 0.000 96 0% 58 29.3% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) superfamily_SSF81321 OR14A16 284532 genome.wustl.edu 37 1 247978955 247978955 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001966.1 -1 provisional p.S26L 0.000 93 0% 56 35.7% 0 - benign(0.125) deleterious(0) neutral(0.455) superfamily_SSF81321 TRIM58 25893 genome.wustl.edu 37 1 248028107 248028107 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015431.3 +1 validated p.A206V 1.000 39 0% 53 39.6% 0 - benign(0.003) tolerated(0.07) neutral(0.319) NULL OR2T8 343172 genome.wustl.edu 37 1 248084899 248084899 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005522.1 +1 validated p.E194K 0.003 224 0% 152 21.7% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_7tm_1,superfamily_SSF81321 OR2AK2 391191 genome.wustl.edu 37 1 248128727 248128727 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004491.1 +1 provisional p.L32I 0.001 165 0% 95 26.3% 0 - benign(0.223) tolerated(0.35) neutral(0.042) superfamily_SSF81321 OR2AK2 391191 genome.wustl.edu 37 1 248128839 248128839 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004491.1 +1 provisional p.R69I 0.001 208 0% 148 38.5% 0 - benign(0.058) deleterious(0.02) neutral(0.387) HMMPfam_7tm_1,superfamily_SSF81321 OR2AK2 391191 genome.wustl.edu 37 1 248129190 248129190 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004491.1 +1 provisional p.S186Y 0.005 99 0% 75 30.7% 0 - benign(0.021) deleterious(0.01) neutral(0.407) HMMPfam_7tm_1,superfamily_SSF81321 OR2L5 81466 genome.wustl.edu 37 1 248185343 248185343 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000355281 +1 known p.L32I 0.004 186 0.5% 99 32.3% 0 - benign(0.013) tolerated(0.38) neutral(0.018) superfamily_SSF81321 OR2L3 391192 genome.wustl.edu 37 1 248224026 248224026 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004687.1 +1 provisional p.G15* 0.035 273 0% 199 29.1% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR2M5 127059 genome.wustl.edu 37 1 248308947 248308947 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004690.1 +1 provisional p.F166L 0.027 320 0% 255 31.4% 0 - possibly_damaging(0.571) tolerated(0.37) neutral(0.214) HMMPfam_7tm_1,superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248343380 248343380 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004688.1 +1 provisional p.V31 0.008 399 0% 323 25.1% 0 - - - - superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248343728 248343728 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004688.1 +1 provisional p.F147L 0.000 246 0% 178 25.8% 0 - benign(0.053) tolerated(0.07) neutral(0.323) HMMPfam_7tm_1,superfamily_SSF81321 OR2T33 391195 genome.wustl.edu 37 1 248436537 248436537 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004695.1 -1 provisional p.E194K 0.006 258 0% 134 20.1% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T33 391195 genome.wustl.edu 37 1 248436600 248436600 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004695.1 -1 provisional p.D173N 0.000 124 0% 86 17.4% 0 - benign(0.013) tolerated(1) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T12 127064 genome.wustl.edu 37 1 248458370 248458370 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004692.1 -1 provisional p.E171K 0.002 202 0% 161 9.9% 0 - possibly_damaging(0.872) tolerated(0.28) neutral(0.371) HMMPfam_7tm_1,superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512981 248512981 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001918.1 +1 provisional p.I302S 0.000 16 0% 11 36.4% 0 - benign(0) deleterious(0.03) neutral(0.364) superfamily_SSF81321 OR2T1 26696 genome.wustl.edu 37 1 248569366 248569366 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030904.1 +1 provisional p.S24* 0.000 113 0% 51 25.5% 0 - - - - NULL OR2T10 127069 genome.wustl.edu 37 1 248756388 248756388 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004693.1 -1 provisional p.M228V 0.074 52 0% 63 41.3% 0 - possibly_damaging(0.579) deleterious(0) deleterious(0.643) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SH3BP5L 80851 genome.wustl.edu 37 1 249108694 249108694 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030645.1 -1 provisional p.R164Q 0.999 60 0% 102 27.5% 47 46.8% benign(0.152) tolerated(0.81) neutral(0.014) HMMPfam_SH3BP5 TPO 7173 genome.wustl.edu 37 2 1440123 1440123 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000547.5 +1 reviewed p.K150T 0.036 170 0% 168 32.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Heme-dependent peroxidases PXDN 7837 genome.wustl.edu 37 2 1647335 1647335 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012293.1 -1 validated p.N1253D 1.000 30 0% 55 40% 3 0% possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases PXDN 7837 genome.wustl.edu 37 2 1657529 1657529 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012293.1 -1 validated p.A659P 1.000 96 0% 144 39.6% 6 0% probably_damaging(0.997) deleterious(0.05) deleterious(0.811) NULL PXDN 7837 genome.wustl.edu 37 2 1684054 1684054 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012293.1 -1 validated p.G214E 0.999 98 0% 186 31.7% 4 0% probably_damaging(0.994) tolerated(0.73) neutral(0.454) HMMSmart_SM00082,superfamily_L domain-like MYT1L 23040 genome.wustl.edu 37 2 1890318 1890318 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015025.2 -1 validated p.E900* 1.000 55 0% 70 35.7% 0 - - - - HMMPfam_zf-C2HC,superfamily_SSF103637 MYT1L 23040 genome.wustl.edu 37 2 1921092 1921092 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015025.2 -1 validated p.K499N 1.000 206 0% 172 32% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL MYT1L 23040 genome.wustl.edu 37 2 1926852 1926852 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015025.2 -1 validated p.S230F 1.000 273 0% 207 30% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL COLEC11 78989 genome.wustl.edu 37 2 3673667 3673667 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199235.1 +1 validated p.E60* 0.065 72 0% 125 26.4% 0 - - - - NULL CMPK2 129607 genome.wustl.edu 37 2 6991612 6991612 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207315.2 -1 validated p.E399* 0.962 131 0% 105 29.5% 11 27.2% - - - HMMPfam_Thymidylate_kin,superfamily_P-loop containing nucleoside triphosphate hydrolases KIDINS220 57498 genome.wustl.edu 37 2 8871069 8871069 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020738.2 -1 validated p.F1699 0.033 235 0% 278 32.4% 26 15.3% - - - NULL KIDINS220 57498 genome.wustl.edu 37 2 8926151 8926151 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020738.2 -1 validated p.K650T 1.000 123 0% 88 27.3% 8 25% possibly_damaging(0.493) deleterious(0.05) deleterious(0.510) HMMPfam_KAP_NTPase KIDINS220 57498 genome.wustl.edu 37 2 8940583 8940583 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020738.2 -1 validated p.E283* 1.000 116 0% 86 38.4% 13 23% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ASAP2 8853 genome.wustl.edu 37 2 9484673 9484673 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003887.2 +1 reviewed p.R288C 1.000 172 0% 121 34.7% 19 31.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ASAP2 8853 genome.wustl.edu 37 2 9508556 9508556 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003887.2 +1 reviewed p.L488 1.000 69 0% 72 36.1% 20 70% - - - HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain CPSF3 51692 genome.wustl.edu 37 2 9580718 9580718 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016207.2 +1 provisional p.N287H 1.000 108 0% 106 26.4% 54 44.4% benign(0.114) tolerated(0.15) neutral(0.250) NULL NOL10 79954 genome.wustl.edu 37 2 10811786 10811786 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024894.2 -1 validated p.E120* 1.000 123 0% 80 27.5% 6 0% - - - superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase NOL10 79954 genome.wustl.edu 37 2 10824709 10824709 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024894.2 -1 validated p.L32 0.304 140 0% 172 22.1% 6 66.6% - - - superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase ATP6V1C2 245973 genome.wustl.edu 37 2 10915115 10915115 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039362.1 +1 reviewed p.R248H 1.000 242 0% 458 33.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-ATPase_C KCNF1 3754 genome.wustl.edu 37 2 11052828 11052828 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002236.4 +1 reviewed p.V92 0.995 48 0% 92 34.8% 0 - - - - HMMPfam_K_tetra,superfamily_POZ domain KCNF1 3754 genome.wustl.edu 37 2 11053302 11053302 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002236.4 +1 reviewed p.F250 0.985 21 0% 32 37.5% 2 50% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ROCK2 9475 genome.wustl.edu 37 2 11376042 11376042 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004850.3 -1 reviewed p.E170A 1.000 97 0% 66 30.3% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LPIN1 23175 genome.wustl.edu 37 2 11919723 11919723 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145693.1 +1 reviewed p.K267N 0.873 100 0% 197 30.5% 2 0% benign(0.424) tolerated(0.89) neutral(0.138) NULL LPIN1 23175 genome.wustl.edu 37 2 11945210 11945210 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145693.1 +1 reviewed p.G690D 1.000 101 0% 102 33.3% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LNS2,HMMSmart_LNS2,superfamily_SSF56784 TRIB2 28951 genome.wustl.edu 37 2 12863502 12863502 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021643.3 +1 reviewed p.F129L 1.000 99 0% 141 26.2% 16 25% possibly_damaging(0.917) tolerated(0.13) deleterious(0.621) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) NBAS 51594 genome.wustl.edu 37 2 15417095 15417095 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015909.2 -1 validated p.E1757K 0.317 137 0.7% 51 31.4% 18 33.3% possibly_damaging(0.643) tolerated(0.5) neutral(0.236) NULL NBAS 51594 genome.wustl.edu 37 2 15448448 15448448 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015909.2 -1 validated p.K1563N 1.000 51 0% 31 29% 27 37% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL DDX1 1653 genome.wustl.edu 37 2 15744594 15744594 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004939.1 +1 reviewed p.L196 0.993 208 0% 327 29.7% 58 39.6% - - - HMMPfam_SPRY,HMMPfam_DEAD,HMMSmart_SM00487,HMMSmart_SM00449,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD51AP2 729475 genome.wustl.edu 37 2 17695282 17695282 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099218.2 -1 provisional p.G1109* 0.008 83 0% 106 34% 0 - - - - NULL RAD51AP2 729475 genome.wustl.edu 37 2 17699010 17699010 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099218.2 -1 provisional p.N225H 0.991 100 0% 140 15.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL VSNL1 7447 genome.wustl.edu 37 2 17773444 17773444 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003385.4 +1 reviewed p.L35I 1.000 110 0% 50 30% 15 46.6% benign(0.016) tolerated(0.13) neutral(0.253) superfamily_EF-hand VSNL1 7447 genome.wustl.edu 37 2 17836635 17836635 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003385.4 +1 reviewed p.L184I 1.000 82 0% 66 24.2% 19 36.8% benign(0.363) tolerated(0.25) neutral(0.152) superfamily_EF-hand SMC6 79677 genome.wustl.edu 37 2 17896306 17896306 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142286.1 -1 validated p.E518* 1.000 83 0% 40 22.5% 12 8.3% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases GEN1 348654 genome.wustl.edu 37 2 17962005 17962005 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130009.1 +1 validated p.S509L 0.000 119 0% 64 40.6% 9 33.3% benign(0) tolerated(0.21) neutral(0.044) NULL MSGN1 343930 genome.wustl.edu 37 2 17998239 17998239 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105569.1 +1 provisional p.P152S 1.000 37 0% 56 21.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic WDR35 57539 genome.wustl.edu 37 2 20160353 20160353 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006657.1 -1 reviewed p.S417Y 1.000 97 0% 103 29.1% 6 33.3% probably_damaging(0.986) deleterious(0) deleterious(0.879) superfamily_WD40 repeat-like MATN3 4148 genome.wustl.edu 37 2 20192873 20192873 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002381.4 -1 reviewed p.*487 0.929 121 0% 239 28.9% 1 100% - - - NULL MATN3 4148 genome.wustl.edu 37 2 20194155 20194155 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002381.4 -1 reviewed p.R437Q 0.306 102 1% 139 28.1% 4 0% benign(0.411) tolerated(0.39) neutral(0.149) superfamily_EGF/Laminin C2orf43 60526 genome.wustl.edu 37 2 20939875 20939875 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021925.2 -1 predicted p.R187* 1.000 101 0% 60 35% 0 - - - - HMMPfam_DUF2305,superfamily_SSF53474 C2orf43 60526 genome.wustl.edu 37 2 21001179 21001179 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021925.2 -1 predicted p.F15L 0.073 163 0% 85 38.8% 2 0% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL APOB 338 genome.wustl.edu 37 2 21225468 21225468 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000384.2 -1 reviewed p.L4276V 0.118 150 0% 53 28.3% 0 - benign(0) - - NULL APOB 338 genome.wustl.edu 37 2 21229728 21229728 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000384.2 -1 reviewed p.T3338A 1.000 75 0% 35 20% 0 - probably_damaging(0.999) - - NULL APOB 338 genome.wustl.edu 37 2 21231843 21231843 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000384.2 -1 reviewed p.F2633V 0.897 61 0% 27 37% 0 - benign(0.393) - - NULL APOB 338 genome.wustl.edu 37 2 21237331 21237331 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000384.2 -1 reviewed p.L1277 0.999 172 0% 93 25.8% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21250836 21250836 + Missense_Mutation SNP G G T rs147173587 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000384.2 -1 reviewed p.S644Y 1.000 186 0% 132 12.9% 0 - probably_damaging(0.999) - - HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions ATAD2B 54454 genome.wustl.edu 37 2 23974917 23974917 + Nonstop_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017552.1 -1 validated p.*1459L 1.000 73 0% 51 37.3% 5 40% - - - NULL ATAD2B 54454 genome.wustl.edu 37 2 23977080 23977080 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017552.1 -1 validated p.R1435H 1.000 49 0% 22 36.4% 4 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TP53I3 9540 genome.wustl.edu 37 2 24307143 24307143 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004881.2 -1 reviewed p.K18 0.986 42 0% 83 41% 39 41% - - - superfamily_GroES-like PFN4 375189 genome.wustl.edu 37 2 24344109 24344109 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199346.1 -1 provisional p.R60Q 0.997 164 0% 294 32.7% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_Profilin,HMMSmart_SM00392,superfamily_Profilin (actin-binding protein) ITSN2 50618 genome.wustl.edu 37 2 24426503 24426503 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006277.2 -1 reviewed p.L1696I 0.774 100 0% 128 24.2% 8 12.5% possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL ITSN2 50618 genome.wustl.edu 37 2 24435522 24435522 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006277.2 -1 reviewed p.R1362 0.999 47 0% 84 34.5% 15 40% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ITSN2 50618 genome.wustl.edu 37 2 24498657 24498657 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006277.2 -1 reviewed p.R669H 0.950 341 0% 199 26.1% 3 33.3% benign(0.009) deleterious(0.03) neutral(0.365) NULL ITSN2 50618 genome.wustl.edu 37 2 24522991 24522991 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006277.2 -1 reviewed p.E377 0.985 252 0% 169 35.5% 7 85.7% - - - NULL NCOA1 8648 genome.wustl.edu 37 2 24920614 24920614 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003743.4 +1 reviewed p.F299C 1.000 168 0% 130 33.8% 15 60% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PYP-like sensor domain (PAS domain) NCOA1 8648 genome.wustl.edu 37 2 24930403 24930403 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003743.4 +1 reviewed p.K688N 1.000 105 0% 64 32.8% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRC-1 EFR3B 22979 genome.wustl.edu 37 2 25315992 25315992 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014971.1 +1 validated p.R69* 1.000 68 0% 63 31.7% 0 - - - - superfamily_ARM repeat EFR3B 22979 genome.wustl.edu 37 2 25377195 25377195 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014971.1 +1 validated p.L814M 1.000 162 0% 195 32.3% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DNMT3A 1788 genome.wustl.edu 37 2 25463181 25463181 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022552.3 -1 reviewed p.R771Q 1.000 42 0% 57 33.3% 35 45.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_S-adenosyl-L-methionine-dependent methyltransferases DTNB 1838 genome.wustl.edu 37 2 25610229 25610229 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021907.3 -1 reviewed p.R585H 1.000 66 0% 103 27.2% 48 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HADHB 3032 genome.wustl.edu 37 2 26501647 26501647 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000183.2 +1 reviewed p.R203Q 1.000 193 0% 145 32.4% 173 45% possibly_damaging(0.87) tolerated(0.05) deleterious(0.683) HMMPfam_Thiolase_N,superfamily_Thiolase-like GPR113 165082 genome.wustl.edu 37 2 26538501 26538501 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145168.1 -1 validated p.H271Y 0.109 47 0% 55 30.9% 0 - benign(0.332) tolerated(0.12) neutral(0.364) NULL OTOF 9381 genome.wustl.edu 37 2 26703156 26703156 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194248.2 -1 reviewed p.E609D 1.000 74 0% 101 35.6% 0 - benign(0.178) tolerated(0.38) neutral(0.034) NULL C2orf70 339778 genome.wustl.edu 37 2 26785555 26785555 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105519.1 +1 predicted e1+1 1.000 24 0% 33 30.3% 0 - - - - - DPYSL5 56896 genome.wustl.edu 37 2 27151171 27151171 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020134.3 +1 validated p.E217K 1.000 154 0% 117 25.6% 0 - probably_damaging(0.974) tolerated(0.08) deleterious(0.716) HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 AGBL5 60509 genome.wustl.edu 37 2 27278702 27278702 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021831.5 +1 validated p.S354Y 0.457 76 0% 122 29.5% 80 41.2% benign(0.398) tolerated(0.19) neutral(0.177) superfamily_Zn-dependent exopeptidases AGBL5 60509 genome.wustl.edu 37 2 27282156 27282156 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021831.5 +1 validated p.S658Y 1.000 92 0% 100 29% 45 48.8% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL AGBL5 60509 genome.wustl.edu 37 2 27293055 27293055 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021831.5 +1 validated p.S862I 0.956 251 0% 467 30.4% 13 61.5% possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL DNAJC5G 285126 genome.wustl.edu 37 2 27503296 27503296 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173650.1 +1 provisional e5-1 0.990 12 0% 16 37.5% 0 - - - - - EIF2B4 8890 genome.wustl.edu 37 2 27592809 27592809 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172195.3 -1 reviewed p.L24 0.405 32 0% 82 36.6% 2 0% - - - NULL PPM1G 5496 genome.wustl.edu 37 2 27605374 27605374 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177983.1 -1 reviewed p.E434* 1.000 232 0% 356 28.9% 104 3.8% - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C C2orf16 84226 genome.wustl.edu 37 2 27799972 27799972 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032266.3 +1 validated p.S178Y 0.042 76 0% 62 35.5% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL C2orf16 84226 genome.wustl.edu 37 2 27802913 27802913 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032266.3 +1 validated p.G1158 1.000 62 0% 49 24.5% 0 - - - - NULL C2orf16 84226 genome.wustl.edu 37 2 27803796 27803796 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032266.3 +1 validated p.R1453* 0.003 40 0% 50 30% 1 0% - - - NULL C2orf16 84226 genome.wustl.edu 37 2 27804814 27804814 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032266.3 +1 validated p.S1792I 0.004 157 0% 117 20.5% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL PPP1CB 5500 genome.wustl.edu 37 2 29001819 29001819 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002709.2 +1 reviewed p.K110T 1.000 229 0% 139 29.5% 67 52.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases TRMT61B 55006 genome.wustl.edu 37 2 29073103 29073103 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017910.3 -1 validated p.L466I 1.000 188 0% 119 33.6% 24 29.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GCD14,superfamily_SSF53335 C2orf71 388939 genome.wustl.edu 37 2 29294673 29294673 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029883.1 -1 provisional p.L819F 0.000 61 0% 63 38.1% 0 - possibly_damaging(0.693) tolerated(0.19) neutral(0.297) NULL LCLAT1 253558 genome.wustl.edu 37 2 30785079 30785079 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182551.3 +1 validated p.F182L 1.000 87 0% 67 22.4% 9 33.3% benign(0.009) tolerated(1) neutral(0.001) HMMPfam_Acyltransferase,HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase CAPN13 92291 genome.wustl.edu 37 2 30977201 30977201 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144575.2 -1 validated p.P299L 0.000 110 0% 63 30.2% 0 - benign(0.025) deleterious(0.05) neutral(0.346) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases EHD3 30845 genome.wustl.edu 37 2 31457652 31457652 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014600.2 +1 validated p.F55 0.997 49 0% 97 39.2% 1 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases XDH 7498 genome.wustl.edu 37 2 31628822 31628822 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000379.3 -1 reviewed p.E17D 1.000 267 0% 141 29.8% 0 - benign(0.017) tolerated(0.22) neutral(0.043) HMMPfam_Fer2,superfamily_Ferredoxin SPAST 6683 genome.wustl.edu 37 2 32323892 32323892 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014946.3 +1 reviewed p.S205Y 1.000 89 0% 54 53.7% 3 0% possibly_damaging(0.691) deleterious(0.03) deleterious(0.612) NULL SPAST 6683 genome.wustl.edu 37 2 32379559 32379559 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014946.3 +1 reviewed p.T615 0.664 95 0% 75 33.3% 20 35% - - - NULL YIPF4 84272 genome.wustl.edu 37 2 32515602 32515602 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032312.3 +1 validated p.D44Y 1.000 195 0% 286 32.9% 16 31.2% possibly_damaging(0.677) tolerated(0.07) deleterious(0.560) NULL YIPF4 84272 genome.wustl.edu 37 2 32530671 32530671 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032312.3 +1 validated p.F237L 1.000 274 0% 270 32.2% 7 28.5% unknown(0) tolerated(0.08) - NULL BIRC6 57448 genome.wustl.edu 37 2 32660609 32660609 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016252.3 +1 reviewed p.D1152G 1.000 96 0% 80 27.5% 1 0% benign(0.099) tolerated(0.2) neutral(0.057) NULL BIRC6 57448 genome.wustl.edu 37 2 32735613 32735613 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016252.3 +1 reviewed p.F3420V 1.000 155 0% 78 35.9% 6 50% benign(0.249) tolerated(0.18) neutral(0.082) NULL BIRC6 57448 genome.wustl.edu 37 2 32774537 32774537 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016252.3 +1 reviewed p.R4378Q 1.000 141 0% 60 41.7% 39 12.8% possibly_damaging(0.944) deleterious(0) deleterious(0.833) NULL BIRC6 57448 genome.wustl.edu 37 2 32832645 32832645 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016252.3 +1 reviewed p.R4732* 1.000 188 0% 121 38% 48 33.3% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like LTBP1 4052 genome.wustl.edu 37 2 33498722 33498722 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206943.2 +1 reviewed e16-1 1.000 86 0% 47 36.2% 0 - - - - - LTBP1 4052 genome.wustl.edu 37 2 33526625 33526625 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206943.2 +1 reviewed p.H1133R 0.495 186 0% 84 35.7% 166 37.9% benign(0.017) tolerated(0.05) neutral(0.346) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin RASGRP3 25780 genome.wustl.edu 37 2 33783768 33783768 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001139488.1 +1 validated p.V579F 0.849 91 0% 95 41.1% 2 0% possibly_damaging(0.608) tolerated(0.19) neutral(0.260) NULL VIT 5212 genome.wustl.edu 37 2 37032606 37032606 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053276.3 +1 validated p.K396N 1.000 75 0% 71 32.4% 0 - probably_damaging(0.999) tolerated(0.25) deleterious(0.527) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 STRN 6801 genome.wustl.edu 37 2 37076884 37076884 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003162.2 -1 validated p.P716S 1.000 123 0% 73 30.1% 11 45.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 STRN 6801 genome.wustl.edu 37 2 37111077 37111077 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003162.2 -1 validated p.E395G 1.000 130 0% 104 22.1% 7 14.2% possibly_damaging(0.86) tolerated(0.18) neutral(0.389) NULL STRN 6801 genome.wustl.edu 37 2 37126713 37126713 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003162.2 -1 validated p.D250N 1.000 180 0% 121 30.6% 6 16.6% benign(0.017) tolerated(0.34) neutral(0.024) NULL HEATR5B 54497 genome.wustl.edu 37 2 37234403 37234403 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019024.1 -1 validated p.H1523N 1.000 111 0% 62 38.7% 13 38.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat QPCT 25797 genome.wustl.edu 37 2 37596908 37596908 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012413.3 +1 reviewed p.F268 0.630 168 0% 76 23.7% 1 0% - - - HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases FAM82A1 151393 genome.wustl.edu 37 2 38156621 38156621 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000354545 +1 known p.I67 0.017 98 0% 221 35.3% 1 100% - - - NULL ATL2 64225 genome.wustl.edu 37 2 38545723 38545723 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135673.1 -1 validated p.D186G 1.000 76 0% 64 26.6% 23 39.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases HNRPLL 92906 genome.wustl.edu 37 2 38800455 38800455 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138394.3 -1 validated p.G330E 1.000 111 0% 57 40.4% 49 40.8% benign(0.075) tolerated(0.18) neutral(0.061) superfamily_RNA-binding domain RBD ARHGEF33 100271715 genome.wustl.edu 37 2 39156109 39156109 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145451.2 +1 validated p.R46I 1.000 164 0% 84 33.3% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL ARHGEF33 100271715 genome.wustl.edu 37 2 39180311 39180311 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145451.2 +1 validated p.F354L 1.000 359 0% 334 24.6% 1 100% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) CDKL4 344387 genome.wustl.edu 37 2 39440541 39440541 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009565.1 -1 provisional p.N121 0.918 92 0% 66 19.7% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAP4K3 8491 genome.wustl.edu 37 2 39485561 39485561 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003618.2 -1 reviewed p.L800I 1.000 145 0% 135 11.1% 14 14.2% probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_CNH,HMMSmart_SM00036 THUMPD2 80745 genome.wustl.edu 37 2 39997087 39997087 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025264.4 -1 validated p.K115N 1.000 265 0% 360 28.3% 4 50% probably_damaging(1) tolerated(0.32) deleterious(0.524) NULL SLC8A1 6546 genome.wustl.edu 37 2 40366764 40366764 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000359719 -1 known p.R181* 0.924 65 0% 39 30.8% 7 0% - - - NULL SLC8A1 6546 genome.wustl.edu 37 2 40655630 40655630 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000359719 -1 known p.P9S 1.000 86 0% 52 32.7% 0 - - - - HMMPfam_Calx-beta SLC8A1 6546 genome.wustl.edu 37 2 40657093 40657093 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021097.2 -1 validated p.E110* 1.000 151 0% 59 13.6% 0 - - - - HMMPfam_Na_Ca_ex PKDCC 91461 genome.wustl.edu 37 2 42281425 42281425 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138370.2 +1 validated p.R338W 1.000 23 0% 54 29.6% 85 42.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL COX7A2L 9167 genome.wustl.edu 37 2 42588288 42588288 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004718.2 -1 reviewed p.F5C 1.000 27 0% 44 18.2% 158 35.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MTA3 57504 genome.wustl.edu 37 2 42935107 42935107 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020744.2 +1 provisional p.I405M 0.894 151 0% 113 34.5% 35 48.5% benign(0.023) deleterious(0.03) neutral(0.365) HMMPfam_GATA,HMMSmart_ZnF_GATA HAAO 23498 genome.wustl.edu 37 2 42996959 42996959 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012205.2 -1 reviewed p.R175Q 0.728 51 0% 92 25% 7 0% probably_damaging(0.953) tolerated(0.58) neutral(0.402) superfamily_RmlC-like cupins THADA 63892 genome.wustl.edu 37 2 43520309 43520309 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083953.1 -1 validated p.I1494 0.484 77 0% 111 17.1% 36 44.4% - - - PatternScan_FORMATE_NITRITE_TP_1 PLEKHH2 130271 genome.wustl.edu 37 2 43921651 43921651 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172069.3 +1 validated p.E140* 1.000 152 0% 94 18.1% 0 - - - - NULL PLEKHH2 130271 genome.wustl.edu 37 2 43927015 43927015 + Silent SNP C C T rs187276353 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172069.3 +1 validated p.L306 0.057 84 0% 87 21.8% 0 - - - - NULL PLEKHH2 130271 genome.wustl.edu 37 2 43927453 43927453 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172069.3 +1 validated p.A452 0.007 92 0% 105 30.5% 0 - - - - NULL PLEKHH2 130271 genome.wustl.edu 37 2 43958731 43958731 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172069.3 +1 validated p.K978T 1.000 122 0% 52 40.4% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMSmart_SM00139 PLEKHH2 130271 genome.wustl.edu 37 2 43971009 43971009 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172069.3 +1 validated p.F1146V 1.000 114 0% 68 35.3% 0 - probably_damaging(0.957) tolerated(0.22) neutral(0.443) HMMSmart_SM00295 ABCG5 64240 genome.wustl.edu 37 2 44051394 44051394 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022436.2 -1 reviewed p.S361Y 0.980 176 0% 164 34.8% 0 - possibly_damaging(0.66) deleterious(0.03) deleterious(0.598) NULL SLC3A1 6519 genome.wustl.edu 37 2 44547593 44547593 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000341.3 +1 reviewed p.N625D 0.002 104 0% 41 19.5% 27 40.7% benign(0) tolerated(0.44) neutral(0.013) NULL SIX2 10736 genome.wustl.edu 37 2 45233309 45233309 + Nonstop_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016932.4 -1 reviewed p.*292Y 1.000 160 0% 251 37.8% 3 33.3% - - - NULL SRBD1 55133 genome.wustl.edu 37 2 45829068 45829068 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018079.4 -1 validated p.E79* 0.000 248 0% 111 20.7% 7 0% - - - NULL EPAS1 2034 genome.wustl.edu 37 2 46605824 46605824 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001430.4 +1 reviewed p.S491Y 0.688 153 0% 199 35.7% 17 5.8% probably_damaging(0.955) tolerated(0.19) neutral(0.448) NULL ATP6V1E2 90423 genome.wustl.edu 37 2 46739761 46739761 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080653.3 -1 validated p.I30 1.000 151 0.7% 110 65.5% 9 88.8% - - - HMMPfam_vATP-synt_E SOCS5 9655 genome.wustl.edu 37 2 46985893 46985893 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014011.4 +1 reviewed p.S75Y 1.000 114 0% 59 39% 2 100% possibly_damaging(0.527) deleterious(0.03) deleterious(0.542) NULL SOCS5 9655 genome.wustl.edu 37 2 46986317 46986317 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014011.4 +1 reviewed p.E216D 0.998 39 0% 16 31.2% 2 0% possibly_damaging(0.472) tolerated(0.72) neutral(0.158) NULL SOCS5 9655 genome.wustl.edu 37 2 46986685 46986685 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014011.4 +1 reviewed p.K339T 1.000 50 0% 16 31.2% 22 36.3% possibly_damaging(0.836) tolerated(0.11) deleterious(0.591) NULL MSH6 2956 genome.wustl.edu 37 2 48018102 48018102 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000179.2 +1 reviewed p.K99N 1.000 51 0% 103 31.1% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT MSH6 2956 genome.wustl.edu 37 2 48025792 48025792 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000179.2 +1 reviewed p.E224* 0.040 83 0% 71 26.8% 11 9% - - - superfamily_Tudor/PWWP/MBT FBXO11 80204 genome.wustl.edu 37 2 48045990 48045990 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025133.3 -1 reviewed p.F561C 1.000 134 0% 135 36.3% 41 46.3% benign(0.034) deleterious(0.02) neutral(0.385) HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like,superfamily_SSF81383 PPP1R21 129285 genome.wustl.edu 37 2 48687280 48687280 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135629.1 +1 validated p.R196Q 1.000 115 0% 103 26.2% 19 36.8% probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL PPP1R21 129285 genome.wustl.edu 37 2 48725652 48725652 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135629.1 +1 validated p.K571N 1.000 113 0% 81 38.3% 7 28.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TTKRSYEDQ STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48874030 48874030 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172311.1 +1 reviewed p.D980A 0.570 136 0% 82 28% 0 - benign(0.006) tolerated(0.29) neutral(0.029) HMMPfam_TFIIA LHCGR 3973 genome.wustl.edu 37 2 48950829 48950829 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000233.3 -1 reviewed p.I130 1.000 131 0% 106 21.7% 0 - - - - superfamily_L domain-like GTF2A1L 11036 genome.wustl.edu 37 2 48960031 48960031 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172196.1 +1 reviewed e9-1 0.000 98 0% 52 26.9% 0 - - - - - FSHR 2492 genome.wustl.edu 37 2 49190358 49190358 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000145.3 -1 reviewed p.L534 1.000 115 0% 65 35.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FSHR 2492 genome.wustl.edu 37 2 49244629 49244629 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000145.3 -1 reviewed p.L125M 1.000 237 0% 61 16.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like NRXN1 9378 genome.wustl.edu 37 2 50779987 50779987 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135659.1 -1 reviewed p.K539N 1.000 208 0% 179 29.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_ConA_like_lec_gl GPR75 10936 genome.wustl.edu 37 2 54081633 54081633 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006794.2 -1 validated p.S87 1.000 53 0% 78 23.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SPTBN1 6711 genome.wustl.edu 37 2 54845327 54845327 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003128.2 +1 reviewed p.E254K 1.000 77 0% 54 37% 23 4.3% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain SPTBN1 6711 genome.wustl.edu 37 2 54851977 54851977 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003128.2 +1 reviewed p.E407* 1.000 54 0% 43 30.2% 29 3.4% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN1 6711 genome.wustl.edu 37 2 54856534 54856534 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003128.2 +1 reviewed p.D755Y 1.000 32 0% 35 25.7% 33 15.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat EML6 400954 genome.wustl.edu 37 2 55122439 55122439 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039753.2 +1 validated p.R962S 1.000 221 0% 156 32.1% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase EML6 400954 genome.wustl.edu 37 2 55155464 55155464 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039753.2 +1 validated p.R1230 0.133 68 0% 84 17.9% 3 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 EML6 400954 genome.wustl.edu 37 2 55197221 55197221 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039753.2 +1 validated p.R1956Q 1.000 190 0% 103 12.6% 2 0% possibly_damaging(0.656) deleterious(0.03) deleterious(0.596) HMMSmart_SM00320,HMMPfam_WD40 RTN4 57142 genome.wustl.edu 37 2 55200750 55200750 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020532.4 -1 reviewed p.I1162T 1.000 200 0% 118 36.4% 107 39.2% benign(0.342) deleterious(0) deleterious(0.552) HMMPfam_Reticulon RTN4 57142 genome.wustl.edu 37 2 55214800 55214800 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020532.4 -1 reviewed p.K1016N 1.000 86 0% 89 40.4% 90 34.4% benign(0.245) deleterious(0.02) neutral(0.408) HMMPfam_Reticulon C2orf63 130162 genome.wustl.edu 37 2 55433439 55433439 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152385.2 -1 validated p.L325I 1.000 193 0% 108 29.6% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat RPS27A 6233 genome.wustl.edu 37 2 55460516 55460516 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135592.2 +1 reviewed p.T22 0.887 101 0% 199 35.2% 1517 37.9% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like MTIF2 4528 genome.wustl.edu 37 2 55471182 55471182 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005369.1 -1 reviewed p.L432I 1.000 123 0% 79 26.6% 38 50% probably_damaging(0.987) tolerated(0.23) deleterious(0.478) HMMPfam_GTP_EFTU_D2,superfamily_Translat_factor CCDC88A 55704 genome.wustl.edu 37 2 55530249 55530249 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135597.1 -1 validated p.P1475L 1.000 184 0% 140 30.7% 3 0% benign(0.026) deleterious(0.02) neutral(0.384) NULL CCDC88A 55704 genome.wustl.edu 37 2 55559782 55559782 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135597.1 -1 validated p.L925 0.973 250 0% 235 32.8% 1 0% - - - NULL CCDC88A 55704 genome.wustl.edu 37 2 55562165 55562165 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135597.1 -1 validated p.E598* 1.000 104 0% 66 33.3% 0 - - - - NULL CCDC104 112942 genome.wustl.edu 37 2 55772054 55772054 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080667.5 +1 validated p.E313D 1.000 120 0% 51 21.6% 71 50.7% possibly_damaging(0.862) tolerated(0.53) neutral(0.341) NULL SMEK2 57223 genome.wustl.edu 37 2 55795425 55795425 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122964.1 -1 validated p.L614I 1.000 104 0% 127 26% 24 41.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_ARM repeat SMEK2 57223 genome.wustl.edu 37 2 55825750 55825750 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122964.1 -1 validated p.F241L 1.000 88 0% 97 19.6% 23 13% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_DUF625,superfamily_ARM repeat CCDC85A 114800 genome.wustl.edu 37 2 56419636 56419636 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080433.1 +1 provisional p.D101Y 1.000 40 0% 86 44.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2216 VRK2 7444 genome.wustl.edu 37 2 58350346 58350346 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130480.1 +1 reviewed p.S218R 1.000 118 0% 93 28% 21 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) REL 5966 genome.wustl.edu 37 2 61118884 61118884 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002908.2 +1 validated p.K26T 1.000 161 0% 124 22.6% 4 25% probably_damaging(1) tolerated(0.07) deleterious(0.819) PatternScan_REL_1,superfamily_P53_like_DNA_bnd,HMMPfam_RHD C2orf74 339804 genome.wustl.edu 37 2 61389978 61389978 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143959.1 +1 validated p.F40V 0.004 122 0% 131 26.7% 3 0% benign(0.075) tolerated(0.14) neutral(0.255) NULL USP34 9736 genome.wustl.edu 37 2 61415279 61415279 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000411912 -1 known p.R1210S 1.000 59 0% 70 32.9% 126 37.3% - - - NULL USP34 9736 genome.wustl.edu 37 2 61415788 61415788 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014709.3 -1 validated p.T3364A 0.994 114 0% 76 35.5% 112 35.7% benign(0.004) tolerated(1) - NULL USP34 9736 genome.wustl.edu 37 2 61538750 61538750 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014709.3 -1 validated p.L1248V 1.000 102 0% 46 43.5% 8 37.5% possibly_damaging(0.793) - - NULL USP34 9736 genome.wustl.edu 37 2 61558426 61558426 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014709.3 -1 validated p.R972K 1.000 234 0% 103 30.1% 7 42.8% benign(0.002) - - NULL FAM161A 84140 genome.wustl.edu 37 2 62067000 62067000 + Missense_Mutation SNP C C T rs182330974 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032180.2 -1 validated p.R380Q 0.002 137 0% 93 28% 0 - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMPfam_UPF0564 FAM161A 84140 genome.wustl.edu 37 2 62067193 62067193 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032180.2 -1 validated p.E316* 0.000 225 0% 121 38.8% 1 0% - - - HMMPfam_UPF0564 CEP68 23177 genome.wustl.edu 37 2 65309732 65309732 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015147.2 +1 validated p.R723C 0.239 161 0% 122 29.5% 11 9% possibly_damaging(0.936) deleterious(0) deleterious(0.826) superfamily_Spectrin repeat RAB1A 5861 genome.wustl.edu 37 2 65315768 65315768 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004161.4 -1 reviewed p.T159 0.996 115 0% 75 37.3% 322 43.4% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ACTR2 10097 genome.wustl.edu 37 2 65482738 65482738 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005386.2 +1 reviewed p.M220I 1.000 198 0% 126 27% 154 41.5% benign(0) tolerated(0.17) neutral(0.059) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ETAA1 54465 genome.wustl.edu 37 2 67631277 67631277 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019002.3 +1 validated p.I488S 0.000 42 0% 32 31.2% 3 0% benign(0.041) deleterious(0.04) neutral(0.351) NULL APLF 200558 genome.wustl.edu 37 2 68740234 68740234 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173545.2 +1 validated p.D122Y 0.999 70 0% 31 35.5% 0 - benign(0.009) deleterious(0.02) neutral(0.384) NULL BMP10 27302 genome.wustl.edu 37 2 69093541 69093541 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014482.1 -1 reviewed p.T166I 1.000 85 0% 35 20% 0 - benign(0.001) tolerated(0.36) neutral(0.020) HMMPfam_TGFb_propeptide BMP10 27302 genome.wustl.edu 37 2 69093667 69093667 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014482.1 -1 reviewed p.R124Q 1.000 54 0% 22 27.3% 0 - benign(0.033) tolerated(0.6) neutral(0.006) HMMPfam_TGFb_propeptide ANTXR1 84168 genome.wustl.edu 37 2 69302780 69302780 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032208.2 +1 reviewed p.N184S 1.000 332 0% 225 26.2% 24 4.1% probably_damaging(0.979) tolerated(0.39) neutral(0.438) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ANTXR1 84168 genome.wustl.edu 37 2 69350208 69350208 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032208.2 +1 reviewed p.E288* 1.000 219 0% 181 25.4% 22 9% - - - HMMPfam_Anth_Ig AAK1 22848 genome.wustl.edu 37 2 69736382 69736382 + Splice_Site SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000409068 -1 known e13+1 1.000 76 0% 92 41.3% 7 57.1% - - - - TIA1 7072 genome.wustl.edu 37 2 70463223 70463223 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022173.2 -1 reviewed p.K37N 1.000 99 0% 95 25.3% 67 43.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD SNRPG 6637 genome.wustl.edu 37 2 70515289 70515289 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000429728 -1 known p.I23T 0.991 124 0% 152 33.6% 200 45.5% - - - NULL ADD2 119 genome.wustl.edu 37 2 70904961 70904961 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001617.3 -1 reviewed p.R478C 0.993 97 0% 84 64.3% 1 100% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL ATP6V1B1 525 genome.wustl.edu 37 2 71191979 71191979 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001692.3 +1 reviewed p.K454N 1.000 35 0% 50 32% 8 75% benign(0.001) tolerated(0.19) neutral(0.050) NULL MPHOSPH10 10199 genome.wustl.edu 37 2 71376430 71376430 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005791.1 +1 reviewed p.K581N 1.000 76 0% 53 34% 15 53.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Mpp10 PAIP2B 400961 genome.wustl.edu 37 2 71415636 71415636 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020459.1 -1 validated p.K115N 1.000 134 0% 95 13.7% 20 15% probably_damaging(0.975) deleterious(0.02) deleterious(0.800) HMMPfam_PAM2 DYSF 8291 genome.wustl.edu 37 2 71766338 71766338 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130987.1 +1 reviewed p.S515 0.948 145 1.4% 208 33.2% 3 0% - - - HMMSmart_C2,superfamily_C2_CaLB DYSF 8291 genome.wustl.edu 37 2 71780260 71780260 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130987.1 +1 reviewed p.F642 0.991 40 0% 73 24.7% 4 0% - - - NULL DYSF 8291 genome.wustl.edu 37 2 71871127 71871127 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130987.1 +1 reviewed p.F1520L 1.000 100 0% 65 27.7% 3 0% benign(0.329) tolerated(0.29) neutral(0.132) NULL EGR4 1961 genome.wustl.edu 37 2 73518976 73518976 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001965.3 -1 validated p.R357Q 0.993 24 0% 18 55.6% 0 - possibly_damaging(0.951) deleterious(0.02) deleterious(0.777) NULL ALMS1 7840 genome.wustl.edu 37 2 73675536 73675536 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015120.4 +1 reviewed p.P627S 0.000 66 0% 21 38.1% 0 - benign(0.002) tolerated(0.7) neutral(0.002) NULL ALMS1 7840 genome.wustl.edu 37 2 73682397 73682397 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015120.4 +1 reviewed p.H2549R 0.940 150 0% 81 16% 5 40% possibly_damaging(0.84) tolerated(0.06) deleterious(0.644) NULL ALMS1 7840 genome.wustl.edu 37 2 73800165 73800165 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015120.4 +1 reviewed p.L3720M 0.977 51 0% 18 27.8% 4 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DUSP11 8446 genome.wustl.edu 37 2 74002160 74002160 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003584.2 -1 reviewed p.K110N 0.019 165 0% 168 33.3% 6 33.3% benign(0.089) tolerated(0.41) neutral(0.021) superfamily_(Phosphotyrosine protein) phosphatases II C2orf78 388960 genome.wustl.edu 37 2 74042284 74042284 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080474.1 +1 predicted p.S312P 0.001 85 0% 122 24.6% 0 - benign(0) tolerated(0.38) neutral(0.018) NULL DCTN1 1639 genome.wustl.edu 37 2 74607140 74607140 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004082.3 -1 reviewed p.Y9H 1.000 130 0% 184 25% 0 - benign(0.019) tolerated(0.51) neutral(0.010) NULL INO80B 83444 genome.wustl.edu 37 2 74683355 74683355 + Missense_Mutation SNP G G T rs35471275 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031288.2 +1 validated p.D166Y 1.000 169 0% 270 25.6% 49 20.4% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CCDC142 84865 genome.wustl.edu 37 2 74702236 74702236 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032779.3 -1 validated p.Q594H 1.000 37 0% 73 20.5% 6 33.3% probably_damaging(0.998) tolerated(0.54) deleterious(0.482) NULL CCDC142 84865 genome.wustl.edu 37 2 74709441 74709441 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032779.3 -1 validated p.A175V 0.014 13 0% 16 43.8% 3 33.3% possibly_damaging(0.583) deleterious(0) deleterious(0.645) NULL AUP1 550 genome.wustl.edu 37 2 74754422 74754422 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181575.3 -1 reviewed p.D344N 1.000 57 0% 92 9.8% 377 21.7% benign(0.139) deleterious(0.04) neutral(0.361) NULL HTRA2 27429 genome.wustl.edu 37 2 74758800 74758800 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013247.4 +1 reviewed p.R339Q 0.999 174 0% 310 32.3% 46 50% probably_damaging(0.982) tolerated(0.23) neutral(0.468) HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases TACR1 6869 genome.wustl.edu 37 2 75347737 75347737 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001058.3 -1 reviewed p.E183* 0.629 31 0% 32 28.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TACR1 6869 genome.wustl.edu 37 2 75425860 75425860 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001058.3 -1 reviewed p.T67 0.999 183 0% 268 31.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TACR1 6869 genome.wustl.edu 37 2 75425874 75425874 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001058.3 -1 reviewed p.M63L 1.000 211 0% 302 32.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TACR1 6869 genome.wustl.edu 37 2 75425924 75425924 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001058.3 -1 reviewed p.S46Y 1.000 221 0.5% 346 33.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Family A G protein-coupled receptor-like MRPL19 9801 genome.wustl.edu 37 2 75882236 75882236 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014763.3 +1 reviewed p.R235H 1.000 58 0% 57 31.6% 31 45.1% possibly_damaging(0.682) deleterious(0) deleterious(0.688) NULL REG3G 130120 genome.wustl.edu 37 2 79253277 79253277 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008387.1 +1 validated p.L20I 0.014 221 0% 85 35.3% 1 0% benign(0.01) tolerated(0.25) neutral(0.037) NULL REG1A 5967 genome.wustl.edu 37 2 79348748 79348748 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002909.4 +1 reviewed p.A42D 0.004 197 0% 148 23.6% 1 100% probably_damaging(0.967) deleterious(0.04) deleterious(0.758) HMMSmart_SM00034,superfamily_C-type lectin-like REG1A 5967 genome.wustl.edu 37 2 79350041 79350041 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002909.4 +1 reviewed p.V132 0.001 81 0% 51 27.5% 0 - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like REG1A 5967 genome.wustl.edu 37 2 79350314 79350314 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002909.4 +1 reviewed p.F158L 0.004 119 0% 67 31.3% 0 - benign(0.004) tolerated(1) - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 CTNNA2 1496 genome.wustl.edu 37 2 80874923 80874923 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004389.3 +1 validated p.R882* 0.998 51 0% 31 45.2% 30 63.3% - - - NULL DNAH6 1768 genome.wustl.edu 37 2 84756154 84756154 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001370.1 +1 validated p.E176* 0.996 134 0% 50 28% 1 0% - - - NULL DNAH6 1768 genome.wustl.edu 37 2 84844015 84844015 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001370.1 +1 validated p.L1161M 1.000 33 0% 17 29.4% 0 - probably_damaging(0.982) deleterious(0.04) deleterious(0.775) HMMPfam_DHC_N2 DNAH6 1768 genome.wustl.edu 37 2 84844035 84844035 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001370.1 +1 validated p.N1167K 1.000 49 0% 21 23.8% 0 - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_DHC_N2 DNAH6 1768 genome.wustl.edu 37 2 84896557 84896557 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001370.1 +1 validated p.R2077C 1.000 153 0% 76 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH6 1768 genome.wustl.edu 37 2 84915613 84915613 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001370.1 +1 validated p.E2396D 0.898 167 0% 65 15.4% 0 - benign(0) tolerated(0.65) neutral(0.003) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH6 1768 genome.wustl.edu 37 2 84934721 84934721 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001370.1 +1 validated p.R2977* 1.000 136 0.7% 65 23.1% 0 - - - - NULL TCF7L1 83439 genome.wustl.edu 37 2 85361471 85361471 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031283.1 +1 provisional p.F113L 0.999 94 0% 140 33.6% 27 40.7% probably_damaging(0.973) tolerated(0.9) neutral(0.415) HMMPfam_CTNNB1_binding USP39 10713 genome.wustl.edu 37 2 85868169 85868169 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006590.2 +1 validated p.F452C 1.000 115 0% 92 32.6% 56 46.4% probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_UCH,superfamily_Cysteine proteinases SFTPB 6439 genome.wustl.edu 37 2 85893781 85893781 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000542.3 -1 reviewed p.D118N 0.000 68 0% 126 37.3% 0 - benign(0.009) tolerated(0.14) neutral(0.250) HMMPfam_SapB_2,HMMSmart_SapB,superfamily_Saposin_like ST3GAL5 8869 genome.wustl.edu 37 2 86094728 86094728 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042437.1 -1 reviewed p.P5S 0.009 90 0% 64 21.9% 0 - benign(0.051) - - NULL POLR1A 25885 genome.wustl.edu 37 2 86269061 86269061 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015425.3 -1 validated p.A1175T 1.000 141 0% 160 33.8% 22 45.4% benign(0.273) tolerated(0.36) neutral(0.049) HMMPfam_RNA_pol_Rpb1_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR1A 25885 genome.wustl.edu 37 2 86327194 86327194 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015425.3 -1 validated p.S60F 0.471 112 0% 84 25% 11 36.3% probably_damaging(0.97) deleterious(0.05) deleterious(0.758) HMMPfam_RNA_pol_Rpb1_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase PTCD3 55037 genome.wustl.edu 37 2 86335628 86335628 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017952.5 +1 validated p.E55* 1.000 166 0% 207 26.6% 11 0% - - - NULL PTCD3 55037 genome.wustl.edu 37 2 86352160 86352160 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017952.5 +1 validated p.E253D 1.000 171 0% 96 33.3% 33 9% probably_damaging(0.986) tolerated(0.53) neutral(0.442) NULL PTCD3 55037 genome.wustl.edu 37 2 86360337 86360337 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017952.5 +1 validated p.Q470H 0.973 271 0% 144 33.3% 34 50% benign(0.225) tolerated(0.22) neutral(0.065) NULL MRPL35 51318 genome.wustl.edu 37 2 86437652 86437652 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016622.3 +1 reviewed p.R143Q 1.000 71 0% 62 33.9% 24 41.6% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_MRP-L35 RNF103 7844 genome.wustl.edu 37 2 86849955 86849955 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005667.2 -1 reviewed p.A19T 1.000 51 0% 99 31.3% 13 46.1% unknown(0) deleterious(0.01) - NULL RMND5A 64795 genome.wustl.edu 37 2 86968107 86968107 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022780.3 +1 validated p.R67I 1.000 369 0% 172 12.8% 47 8.5% probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL EIF2AK3 9451 genome.wustl.edu 37 2 88874663 88874663 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004836.5 -1 reviewed p.D780Y 0.862 160 0% 74 31.1% 23 30.4% benign(0.229) tolerated(0.24) neutral(0.060) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EIF2AK3 9451 genome.wustl.edu 37 2 88874868 88874868 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004836.5 -1 reviewed p.I711 1.000 154 0% 87 32.2% 10 40% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ANKRD36BP2 645784 genome.wustl.edu 37 2 89072558 89072558 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_015424.1 +1 predicted NULL 0.005 74 0% 70 28.6% 5 20% - - - - ANKRD36BP2 645784 genome.wustl.edu 37 2 89085999 89085999 + RNA SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_015424.1 +1 predicted NULL 0.007 98 0% 40 17.5% 1 0% - - - - IGKC 3514 genome.wustl.edu 37 2 89156877 89156877 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390237 -1 known p.V107A 0.091 117 0% 92 34.8% 8039 0% - - - superfamily_Immunoglobulin IGKV1-5 28299 genome.wustl.edu 37 2 89246820 89246820 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000496168 -1 known p.S117Y 0.279 218 0% 122 29.5% 220 0% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMSmart_SM00409,superfamily_Immunoglobulin IGKV3-11 28914 genome.wustl.edu 37 2 89326834 89326834 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000483158 -1 known p.P60H 0.952 210 0% 67 38.8% 1320 0% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGKV6-21 28906 genome.wustl.edu 37 2 89459295 89459295 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390256 -1 known p.I94 0.998 148 0% 73 23.3% 23 0% - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGKV1-33 28933 genome.wustl.edu 37 2 89568002 89568002 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000473726 -1 known p.S36F 0.000 202 0% 61 8.2% 566 0.1% possibly_damaging(0.438) deleterious(0.01) deleterious(0.548) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV3D-15 28875 genome.wustl.edu 37 2 90154147 90154147 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000417279 +1 known p.I78 0.155 199 0% 70 30% 457 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1D-42 28892 genome.wustl.edu 37 2 90229387 90229387 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390278 +1 known p.F69L 1.000 132 0% 37 24.3% 0 - benign(0) tolerated(1) - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGKV1D-43 28891 genome.wustl.edu 37 2 90249117 90249117 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000468879 +1 known p.R25W 0.001 152 0% 72 36.1% 4 0% benign(0) deleterious(0) neutral(0.445) HMMPfam_V-set,superfamily_Immunoglobulin ZNF514 84874 genome.wustl.edu 37 2 95818891 95818891 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032788.1 -1 provisional p.N36K 0.994 104 0% 110 25.5% 13 61.5% possibly_damaging(0.802) deleterious(0.05) deleterious(0.647) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box LOC344065 344065 genome.wustl.edu 37 2 95880588 95880588 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_292895.7 +1 model p.R285I 0.965 43 0% 32 34.4% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC344065 344065 genome.wustl.edu 37 2 95881108 95881108 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_292895.7 +1 model p.E458D 1.000 35 0% 29 31% 1 0% - - - superfamily_C2H2 and C2HC zinc fingers LOC400986 400986 genome.wustl.edu 37 2 96553862 96553862 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001717763.2 -1 model p.S640Y 0.015 261 0% 100 33% 1 0% possibly_damaging(0.449) deleterious(0.04) deleterious(0.496) NULL LOC400986 400986 genome.wustl.edu 37 2 96583646 96583646 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001717763.2 -1 model p.S487 0.001 190 0% 68 33.8% 0 - - - - NULL GPAT2 150763 genome.wustl.edu 37 2 96697841 96697841 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207328.2 -1 validated p.F39L 0.993 87 0% 101 26.7% 3 0% possibly_damaging(0.942) tolerated(0.92) neutral(0.387) NULL ADRA2B 151 genome.wustl.edu 37 2 96781615 96781615 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000409345 -1 known p.D92N 1.000 37 0% 68 33.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TMEM127 55654 genome.wustl.edu 37 2 96920705 96920705 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017849.1 -1 provisional p.L92P 1.000 41 0% 35 40% 44 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CIAO1 9391 genome.wustl.edu 37 2 96933609 96933609 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004804.2 +1 validated p.L146F 0.996 60 0% 115 38.3% 69 40.5% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 SNRNP200 23020 genome.wustl.edu 37 2 96952886 96952886 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014014.3 -1 reviewed p.R1166H 1.000 88 0% 93 32.3% 134 46.2% benign(0.139) tolerated(0.17) neutral(0.071) HMMPfam_Sec63,HMMSmart_SM00611 SNRNP200 23020 genome.wustl.edu 37 2 96959180 96959180 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014014.3 -1 reviewed p.R637Q 1.000 66 0% 45 37.8% 83 30.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FER1L5 90342 genome.wustl.edu 37 2 97326103 97326103 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113382.1 +1 provisional p.S241Y 0.998 108 0% 72 18.1% 0 - possibly_damaging(0.677) deleterious(0.05) deleterious(0.587) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerI FER1L5 90342 genome.wustl.edu 37 2 97334643 97334643 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113382.1 +1 provisional p.D385G 0.947 113 0% 78 29.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FER1L5 90342 genome.wustl.edu 37 2 97365294 97365294 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113382.1 +1 provisional p.E1567* 1.000 106 0% 140 28.6% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CNNM4 26504 genome.wustl.edu 37 2 97428051 97428051 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020184.3 +1 reviewed p.K439E 1.000 117 0% 219 26% 4 75% possibly_damaging(0.675) deleterious(0.03) deleterious(0.604) HMMPfam_CBS ANKRD23 200539 genome.wustl.edu 37 2 97508187 97508187 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144994.7 -1 reviewed p.G30E 1.000 172 0% 256 31.6% 2 0% possibly_damaging(0.68) deleterious(0) deleterious(0.687) NULL SEMA4C 54910 genome.wustl.edu 37 2 97530782 97530782 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017789.4 -1 validated p.V235 1.000 72 0% 81 21% 55 10.9% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema ANKRD36 375248 genome.wustl.edu 37 2 97810406 97810406 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000461153 +1 known p.S320 0.002 125 0% 53 18.9% 0 - - - - NULL ANKRD36 375248 genome.wustl.edu 37 2 97847476 97847476 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000461153 +1 known p.D595Y 0.398 145 0% 46 19.6% 2 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL ANKRD36 375248 genome.wustl.edu 37 2 97853095 97853095 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000461153 +1 known p.S700 0.001 140 0% 63 28.6% 1 100% - - - NULL ANKRD36 375248 genome.wustl.edu 37 2 97856725 97856725 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000461153 +1 known p.Q718H 0.075 369 0% 129 26.4% 0 - benign(0.05) deleterious(0.01) neutral(0.409) NULL ANKRD36 375248 genome.wustl.edu 37 2 97873689 97873689 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000461153 +1 known p.D901Y 0.033 146 0% 58 22.4% 1 0% possibly_damaging(0.538) deleterious(0) deleterious(0.627) NULL ANKRD36 375248 genome.wustl.edu 37 2 97875443 97875443 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000461153 +1 known p.L927F 0.010 346 0% 117 29.1% 0 - benign(0.113) deleterious(0) neutral(0.454) NULL ANKRD36 375248 genome.wustl.edu 37 2 97877311 97877311 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000461153 +1 known p.K962 0.166 245 0% 74 36.5% 0 - - - - NULL ANKRD36 375248 genome.wustl.edu 37 2 97911236 97911236 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000461153 +1 known p.R1441* 0.003 156 0% 92 30.4% 1 0% - - - NULL ANKRD36B 57730 genome.wustl.edu 37 2 98128389 98128389 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025190.3 -1 provisional p.D746Y 0.503 168 0% 83 21.7% 2 0% - - - NULL ZAP70 7535 genome.wustl.edu 37 2 98354262 98354262 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079.3 +1 reviewed p.E509K 1.000 70 0% 148 28.4% 42 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TMEM131 23505 genome.wustl.edu 37 2 98413338 98413338 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015348.1 -1 validated p.I994 1.000 146 0% 150 26.7% 18 33.3% - - - NULL VWA3B 200403 genome.wustl.edu 37 2 98709732 98709732 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144992.4 +1 provisional p.I59 0.968 64 0% 80 38.8% 1 0% - - - NULL CNGA3 1261 genome.wustl.edu 37 2 98986517 98986517 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001298.2 +1 reviewed p.R27C 0.000 176 0% 136 29.4% 0 - benign(0.001) tolerated(0.15) neutral(0.241) NULL CNGA3 1261 genome.wustl.edu 37 2 99006197 99006197 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001298.2 +1 reviewed p.A176T 0.183 81 0% 76 38.2% 0 - benign(0.016) tolerated(0.72) neutral(0.002) superfamily_SSF81324 INPP4A 3631 genome.wustl.edu 37 2 99198037 99198037 + Splice_Site SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001566.2 +1 reviewed e24-2 1.000 95 0% 146 31.5% 0 - - - - - UNC50 25972 genome.wustl.edu 37 2 99226346 99226346 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014044.5 +1 validated p.R42W 0.983 120 0% 163 34.4% 70 44.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_UNC-50 MGAT4A 11320 genome.wustl.edu 37 2 99251711 99251711 + Missense_Mutation SNP C C T rs182193794 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012214.2 -1 reviewed p.R481Q 1.000 337 0% 391 29.9% 2 0% benign(0.026) tolerated(0.33) neutral(0.025) NULL TSGA10 80705 genome.wustl.edu 37 2 99651847 99651847 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025244.2 -1 validated p.V487A 0.989 90 0% 34 20.6% 1 0% benign(0.013) deleterious(0.01) neutral(0.406) NULL LIPT1 51601 genome.wustl.edu 37 2 99778626 99778626 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015929.3 +1 reviewed p.S69F 0.986 98 0% 84 38.1% 8 62.5% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL LIPT1 51601 genome.wustl.edu 37 2 99779337 99779337 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015929.3 +1 reviewed p.R306I 0.970 65 0% 60 30% 2 100% benign(0.002) tolerated(0.48) neutral(0.011) NULL EIF5B 9669 genome.wustl.edu 37 2 100006721 100006721 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015904.3 +1 reviewed p.R815C 1.000 237 0% 225 32.9% 54 53.7% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases EIF5B 9669 genome.wustl.edu 37 2 100015222 100015222 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015904.3 +1 reviewed p.I1135 0.993 125 0% 89 40.4% 82 47.5% - - - superfamily_Translation proteins REV1 51455 genome.wustl.edu 37 2 100022486 100022486 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016316.2 -1 reviewed p.P899 0.035 86 0% 66 36.4% 54 48.1% - - - NULL REV1 51455 genome.wustl.edu 37 2 100065844 100065844 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016316.2 -1 reviewed p.E102* 1.000 183 0% 105 28.6% 8 50% - - - HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain CHST10 9486 genome.wustl.edu 37 2 101009761 101009761 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004854.3 -1 validated p.F339 0.882 179 0% 224 33.5% 30 63.3% - - - HMMPfam_Sulfotransfer_2 RFX8 731220 genome.wustl.edu 37 2 102018937 102018937 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145664.1 -1 validated p.R402S 0.986 35 0% 46 21.7% 1 0% possibly_damaging(0.582) deleterious(0.01) deleterious(0.606) NULL RFX8 731220 genome.wustl.edu 37 2 102027155 102027155 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145664.1 -1 validated p.L247V 1.000 140 0% 134 34.3% 0 - possibly_damaging(0.749) tolerated(0.07) deleterious(0.594) NULL RFX8 731220 genome.wustl.edu 37 2 102038842 102038842 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145664.1 -1 validated p.K55N 1.000 160 0% 108 32.4% 0 - benign(0.001) tolerated(0.86) neutral(0.001) NULL IL1RL2 8808 genome.wustl.edu 37 2 102805708 102805708 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003854.2 +1 reviewed p.E77 0.005 113 0% 181 28.7% 0 - - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 IL18RAP 8807 genome.wustl.edu 37 2 103059755 103059755 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003853.2 +1 reviewed p.W298G 0.000 95 0% 92 34.8% 0 - benign(0.031) tolerated(0.7) neutral(0.004) HMMSmart_SM00409,superfamily_Immunoglobulin IL18RAP 8807 genome.wustl.edu 37 2 103068259 103068259 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003853.2 +1 reviewed p.R473I 0.994 117 0% 91 26.4% 1 0% possibly_damaging(0.805) deleterious(0.02) deleterious(0.686) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain SLC9A4 389015 genome.wustl.edu 37 2 103090236 103090236 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001011552.3 +1 validated p.F6 0.000 122 0% 93 31.2% 0 - - - - NULL SLC9A4 389015 genome.wustl.edu 37 2 103125390 103125390 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001011552.3 +1 validated p.R496C 0.990 122 0% 60 36.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RGPD3 653489 genome.wustl.edu 37 2 107040336 107040336 + Nonsense_Mutation SNP C C A rs71230083 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144013.1 -1 validated p.E1363* 1.000 177 0% 103 22.3% 0 - - - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RGPD3 653489 genome.wustl.edu 37 2 107050701 107050701 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144013.1 -1 validated p.L730I 0.890 559 0% 196 19.9% 0 - benign(0.006) tolerated(0.64) neutral(0.003) NULL SLC5A7 60482 genome.wustl.edu 37 2 108627063 108627063 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021815.2 +1 provisional p.L497I 1.000 164 0% 114 28.9% 0 - benign(0.003) tolerated(0.35) neutral(0.021) NULL GCC2 9648 genome.wustl.edu 37 2 109116056 109116056 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181453.3 +1 reviewed p.E1610D 1.000 1185 0% 556 15.1% 14 21.4% possibly_damaging(0.931) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109370342 109370342 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006267.4 +1 reviewed p.E706A 1.000 757 0% 291 25.1% 6 16.6% unknown(0) - - NULL CCDC138 165055 genome.wustl.edu 37 2 109463276 109463276 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144978.1 +1 provisional p.S469Y 0.004 93 0% 67 43.3% 4 0% possibly_damaging(0.644) tolerated(0.17) neutral(0.284) NULL SH3RF3 344558 genome.wustl.edu 37 2 110048973 110048973 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000309415 +1 known p.A474T 0.991 50 0% 59 30.5% 2 0% possibly_damaging(0.641) tolerated(0.45) neutral(0.237) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 SH3RF3 344558 genome.wustl.edu 37 2 110048997 110048997 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000309415 +1 known p.E482K 1.000 65 0% 64 14.1% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 SEPT10 151011 genome.wustl.edu 37 2 110350673 110350673 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144710.2 -1 reviewed p.T18 0.006 158 0% 150 36% 6 16.6% - - - NULL MALL 7851 genome.wustl.edu 37 2 110849336 110849336 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005434.4 -1 validated p.F39L 0.999 102 0% 116 21.6% 5 0% unknown(0) - - HMMPfam_MARVEL NPHP1 4867 genome.wustl.edu 37 2 110959016 110959016 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000272.3 -1 reviewed p.R42I 0.957 333 0% 529 28.5% 8 12.5% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) NULL BUB1 699 genome.wustl.edu 37 2 111415133 111415133 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004336.3 -1 reviewed p.E536* 1.000 133 0% 92 29.3% 15 13.3% - - - NULL BUB1 699 genome.wustl.edu 37 2 111416286 111416286 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004336.3 -1 reviewed p.S437Y 0.938 281 0% 139 25.9% 15 13.3% possibly_damaging(0.931) tolerated(0.05) deleterious(0.723) NULL BUB1 699 genome.wustl.edu 37 2 111425173 111425173 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004336.3 -1 reviewed p.R244C 0.997 152 0% 88 23.9% 10 30% benign(0.021) tolerated(0.41) neutral(0.016) NULL FBLN7 129804 genome.wustl.edu 37 2 112944857 112944857 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153214.2 +1 validated p.R365Q 0.822 47 0% 61 31.1% 5 20% probably_damaging(0.99) tolerated(0.3) deleterious(0.470) NULL ZC3H8 84524 genome.wustl.edu 37 2 112991747 112991747 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032494.2 -1 validated p.R191C 1.000 267 0% 131 32.1% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZC3H8 84524 genome.wustl.edu 37 2 113007846 113007846 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032494.2 -1 validated p.I26 0.987 300 0.3% 301 32.9% 6 83.3% - - - NULL RGPD8 727851 genome.wustl.edu 37 2 113147513 113147513 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000302558 -1 known p.F1003L 1.000 234 0% 73 16.4% 7 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL RGPD8 727851 genome.wustl.edu 37 2 113147577 113147577 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000302558 -1 known p.G982E 1.000 350 0% 112 17% 4 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL POLR1B 84172 genome.wustl.edu 37 2 113326363 113326363 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019014.4 +1 validated p.A653D 0.001 224 0% 93 29% 18 44.4% benign(0) tolerated(0.2) neutral(0.049) HMMPfam_RNA_pol_Rpb2_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase SLC20A1 6574 genome.wustl.edu 37 2 113417110 113417110 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005415.3 +1 provisional p.R460* 1.000 57 0% 48 35.4% 55 14.5% - - - HMMPfam_PHO4 IL36G 56300 genome.wustl.edu 37 2 113742464 113742464 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019618.2 +1 reviewed p.P116 0.530 117 0% 50 32% 0 - - - - HMMPfam_IL1,HMMSmart_SM00125,superfamily_Cytokine MIR1302-3 100302128 genome.wustl.edu 37 2 114340613 114340613 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000408128 -1 known NULL 0.144 369 0% 805 13.9% 0 - - - - - ENSG00000251207 0 genome.wustl.edu 37 2 114415849 114415849 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000514936 -1 novel NULL 1.000 153 0% 216 29.6% 2 0% - - - - DPP10 57628 genome.wustl.edu 37 2 116535403 116535403 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020868.3 +1 validated p.L452M 1.000 136 0% 69 33.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP10 57628 genome.wustl.edu 37 2 116548905 116548905 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020868.3 +1 validated p.R558Q 1.000 287 0% 371 32.1% 1 0% possibly_damaging(0.623) tolerated(0.18) neutral(0.273) superfamily_alpha/beta-Hydrolases DDX18 8886 genome.wustl.edu 37 2 118586971 118586971 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006773.3 +1 reviewed p.N600S 0.902 200 0% 259 30.9% 34 44.1% benign(0.004) tolerated(0.06) neutral(0.323) NULL CCDC93 54520 genome.wustl.edu 37 2 118766198 118766198 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019044.3 -1 validated p.L27 1.000 216 0% 271 30.3% 6 66.6% - - - HMMPfam_KOG2701 MARCO 8685 genome.wustl.edu 37 2 119727772 119727772 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006770.3 +1 reviewed p.F94L 0.001 75 0% 49 22.4% 13 0% possibly_damaging(0.791) deleterious(0) deleterious(0.741) NULL STEAP3 55240 genome.wustl.edu 37 2 120005503 120005503 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182915.2 +1 validated p.F257L 1.000 23 0% 46 28.3% 72 44.4% benign(0.067) tolerated(0.15) neutral(0.245) NULL DBI 1622 genome.wustl.edu 37 2 120129878 120129878 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079863.1 +1 reviewed p.K84T 0.963 165 0% 220 30% 333 45.6% benign(0.006) tolerated(0.07) neutral(0.319) HMMPfam_ACBP,superfamily_ACBP SCTR 6344 genome.wustl.edu 37 2 120236416 120236416 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002980.2 -1 reviewed p.R91I 0.016 74 0% 98 36.7% 0 - benign(0.418) tolerated(0.14) neutral(0.385) HMMPfam_HRM,HMMSmart_SM00008,superfamily_Hormone receptor domain (HRM Pfam 02793) PTPN4 5775 genome.wustl.edu 37 2 120635108 120635108 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002830.2 +1 reviewed p.E120* 1.000 103 0% 45 28.9% 7 14.2% - - - HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 PTPN4 5775 genome.wustl.edu 37 2 120672775 120672775 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002830.2 +1 reviewed p.S262Y 1.000 63 0% 44 31.8% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_C,superfamily_SSF50729 PTPN4 5775 genome.wustl.edu 37 2 120702656 120702656 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002830.2 +1 reviewed e15-1 1.000 82 0% 51 29.4% 0 - - - - - EPB41L5 57669 genome.wustl.edu 37 2 120889210 120889210 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020909.3 +1 validated p.S506 0.973 73 0% 15 33.3% 0 - - - - NULL GLI2 2736 genome.wustl.edu 37 2 121708927 121708927 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005270.4 +1 reviewed p.Y121 0.996 50 0% 72 33.3% 1 0% - - - NULL CLASP1 23332 genome.wustl.edu 37 2 122120867 122120867 + Nonsense_Mutation SNP G G A rs145127425 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015282.2 -1 validated p.R1363* 1.000 155 0% 187 28.9% 28 21.4% - - - HMMPfam_HEAT,superfamily_ARM repeat CLASP1 23332 genome.wustl.edu 37 2 122273335 122273335 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015282.2 -1 validated p.R184* 1.000 189 0% 142 12% 4 0% - - - HMMPfam_HEAT,superfamily_ARM repeat CLASP1 23332 genome.wustl.edu 37 2 122285415 122285415 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015282.2 -1 validated p.R144* 0.880 101 0% 149 40.9% 5 20% - - - superfamily_ARM repeat MKI67IP 84365 genome.wustl.edu 37 2 122485320 122485320 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032390.4 -1 reviewed p.R288* 0.779 335 0% 265 12.5% 23 13% - - - NULL CNTNAP5 129684 genome.wustl.edu 37 2 125530500 125530500 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130773.2 +1 reviewed p.E885D 0.996 123 0% 53 24.5% 0 - probably_damaging(0.986) tolerated(0.08) deleterious(0.734) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CNTNAP5 129684 genome.wustl.edu 37 2 125622999 125622999 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130773.2 +1 reviewed p.E1111* 0.995 105 0% 54 31.5% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CYP27C1 339761 genome.wustl.edu 37 2 127953003 127953003 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001665.3 -1 reviewed p.E209 0.997 131 0% 173 33.5% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP27C1 339761 genome.wustl.edu 37 2 127960975 127960975 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001665.3 -1 reviewed p.D51Y 1.000 168 0% 252 31% 0 - benign(0.078) deleterious(0.04) neutral(0.354) HMMPfam_p450,superfamily_Cytochrome P450 CYP27C1 339761 genome.wustl.edu 37 2 127961053 127961053 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001665.3 -1 reviewed p.V25F 1.000 219 0% 275 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 ERCC3 2071 genome.wustl.edu 37 2 128046300 128046300 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000122.1 -1 reviewed p.E321D 1.000 88 0% 80 25% 44 40.9% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_ResIII,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases IWS1 55677 genome.wustl.edu 37 2 128262938 128262938 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017969.2 -1 validated p.Q181K 0.559 137 0% 81 37% 26 23% benign(0.059) tolerated(0.53) neutral(0.011) NULL IWS1 55677 genome.wustl.edu 37 2 128281287 128281287 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017969.2 -1 validated p.G39R 1.000 141 0% 242 33.1% 40 7.5% probably_damaging(0.998) tolerated(0.71) deleterious(0.476) NULL MYO7B 4648 genome.wustl.edu 37 2 128383090 128383090 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080527.1 +1 provisional p.V1373I 0.475 12 0% 22 36.4% 0 - benign(0.135) tolerated(0.99) neutral(0.011) superfamily_Second domain of FERM,HMMSmart_SM00295 MYO7B 4648 genome.wustl.edu 37 2 128389237 128389237 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080527.1 +1 provisional p.D1694N 1.000 30 0% 54 37% 0 - possibly_damaging(0.948) deleterious(0.04) deleterious(0.740) HMMPfam_MyTH4,HMMSmart_SM00139 MYO7B 4648 genome.wustl.edu 37 2 128392207 128392207 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080527.1 +1 provisional p.S1862A 0.950 132 0% 222 23.4% 1 0% probably_damaging(0.969) tolerated(0.08) deleterious(0.712) HMMSmart_SM00295 UGGT1 56886 genome.wustl.edu 37 2 128913066 128913066 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020120.3 +1 validated p.N714T 1.000 221 0% 110 24.5% 16 37.5% benign(0) tolerated(0.61) neutral(0.004) NULL UGGT1 56886 genome.wustl.edu 37 2 128913100 128913100 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020120.3 +1 validated p.I725 0.011 220 0% 103 30.1% 12 33.3% - - - NULL UGGT1 56886 genome.wustl.edu 37 2 128938626 128938626 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020120.3 +1 validated p.L1355M 1.000 229 0% 85 22.4% 26 46.1% possibly_damaging(0.774) deleterious(0.01) deleterious(0.694) superfamily_Nucleotide-diphospho-sugar transferases POTEF 728378 genome.wustl.edu 37 2 130872573 130872573 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099771.2 -1 validated p.D231Y 0.919 618 0% 587 19.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK CCDC74B 91409 genome.wustl.edu 37 2 130897141 130897141 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207310.1 -1 provisional p.R377H 0.995 43 0% 89 23.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL POTEE 445582 genome.wustl.edu 37 2 131976293 131976293 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083538.1 +1 validated p.F106 0.004 164 0% 305 23% 0 - - - - superfamily_Ankyrin repeat POTEE 445582 genome.wustl.edu 37 2 132021086 132021086 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083538.1 +1 validated p.K686N 0.221 176 0% 205 20% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL CCDC74A 90557 genome.wustl.edu 37 2 132290304 132290304 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138770.1 +1 provisional p.E276K 1.000 159 0% 221 26.2% 3 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL GPR39 2863 genome.wustl.edu 37 2 133402827 133402827 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001508.2 +1 validated p.S337L 1.000 63 0% 120 35% 54 46.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NCKAP5 344148 genome.wustl.edu 37 2 133542139 133542139 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207363.2 -1 validated p.D749Y 0.010 127 0% 61 24.6% 3 33.3% benign(0.422) deleterious(0.01) deleterious(0.542) NULL CCNT2 905 genome.wustl.edu 37 2 135694462 135694462 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058241.1 +1 reviewed p.R98* 1.000 229 0% 117 33.3% 8 25% - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like CCNT2 905 genome.wustl.edu 37 2 135711715 135711715 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058241.1 +1 reviewed p.P564T 0.176 53 0% 54 40.7% 49 55.1% benign(0.004) deleterious(0) neutral(0.445) NULL YSK4 80122 genome.wustl.edu 37 2 135738613 135738613 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025052.3 -1 validated p.W1233L 1.000 111 0% 100 35% 0 - possibly_damaging(0.64) deleterious(0) deleterious(0.668) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase YSK4 80122 genome.wustl.edu 37 2 135743579 135743579 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025052.3 -1 validated p.E955* 0.061 143 0% 80 27.5% 0 - - - - NULL YSK4 80122 genome.wustl.edu 37 2 135756553 135756553 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025052.3 -1 validated p.S110L 0.000 140 0% 77 23.4% 2 0% benign(0.011) tolerated(0.06) neutral(0.323) NULL ZRANB3 84083 genome.wustl.edu 37 2 135965174 135965174 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032143.2 -1 provisional p.R947* 1.000 173 0% 70 27.1% 3 33.3% - - - NULL ZRANB3 84083 genome.wustl.edu 37 2 136107639 136107639 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032143.2 -1 provisional p.R169H 1.000 174 0.6% 166 22.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases R3HDM1 23518 genome.wustl.edu 37 2 136399194 136399194 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000429703 +1 known p.F125V 1.000 198 0% 126 29.4% 8 62.5% - - - NULL LCT 3938 genome.wustl.edu 37 2 136587208 136587208 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002299.2 -1 reviewed p.E253D 0.096 128 0% 117 29.1% 0 - benign(0.001) deleterious(0) neutral(0.445) superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136594115 136594115 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002299.2 -1 reviewed p.S209R 0.000 63 0% 18 33.3% 0 - benign(0) tolerated(0.08) neutral(0.300) superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136594312 136594312 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002299.2 -1 reviewed p.R143I 0.000 145 0% 74 29.7% 0 - possibly_damaging(0.708) deleterious(0.04) deleterious(0.605) superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136594739 136594739 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002299.2 -1 reviewed p.M1L 0.991 24 0% 11 36.4% 0 - possibly_damaging(0.77) deleterious(0) deleterious(0.730) NULL DARS 1615 genome.wustl.edu 37 2 136673920 136673920 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001349.2 -1 validated p.V328M 1.000 129 0% 55 40% 59 38.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases CXCR4 7852 genome.wustl.edu 37 2 136873422 136873422 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008540.1 -1 reviewed p.E30K 1.000 73 0% 126 33.3% 77 14.2% possibly_damaging(0.814) deleterious(0) deleterious(0.752) superfamily_SSF81321 THSD7B 80731 genome.wustl.edu 37 2 138163337 138163337 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080427.1 +1 provisional p.T854 0.000 48 0% 41 29.3% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat HNMT 3176 genome.wustl.edu 37 2 138738829 138738829 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024075.1 +1 reviewed p.S78 0.010 131 0% 69 37.7% 0 - - - - NULL HNMT 3176 genome.wustl.edu 37 2 138738926 138738926 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024075.1 +1 reviewed p.E111* 0.000 169 0% 97 26.8% 0 - - - - NULL LOC440917 440917 genome.wustl.edu 37 2 139046193 139046193 + RNA SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_041289.2 -1 model NULL 0.999 262 0% 180 34.4% 0 - - - - - LOC440917 440917 genome.wustl.edu 37 2 139046332 139046332 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_041289.2 -1 model NULL 0.769 108 0% 43 34.9% 3 0% - - - - SPOPL 339745 genome.wustl.edu 37 2 139322307 139322307 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001664.2 +1 validated p.C289 1.000 188 0% 112 14.3% 9 0% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB LRP1B 53353 genome.wustl.edu 37 2 140995838 140995838 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000437977 -1 known p.L713* 0.999 343 0% 80 26.3% 4 50% benign(0) tolerated(0.97) - NULL LRP1B 53353 genome.wustl.edu 37 2 141242989 141242989 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018557.2 -1 validated p.L3116 1.000 248 0% 108 33.3% 4 100% - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141245266 141245266 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018557.2 -1 validated p.E3055* 1.000 124 0% 68 29.4% 1 0% - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141458121 141458121 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018557.2 -1 validated p.R2166I 1.000 74 0% 32 21.9% 2 0% probably_damaging(0.991) tolerated(0.06) deleterious(0.766) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 LRP1B 53353 genome.wustl.edu 37 2 141709478 141709478 + Silent SNP G G A rs187157893 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018557.2 -1 validated p.F973 0.998 207 0% 93 29% 5 80% - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141777500 141777500 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018557.2 -1 validated p.P654L 1.000 81 0% 31 32.3% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 142012122 142012122 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018557.2 -1 validated p.F144 0.989 342 0% 125 31.2% 0 - - - - HMMSmart_EGF,PatternScan_EGF_2,superfamily_SSF57196 KYNU 8942 genome.wustl.edu 37 2 143713807 143713807 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003937.2 +1 reviewed p.K157N 1.000 192 0% 77 24.7% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases ARHGAP15 55843 genome.wustl.edu 37 2 144245006 144245006 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018460.3 +1 validated p.K256N 1.000 105 0% 67 22.4% 3 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ZEB2 9839 genome.wustl.edu 37 2 145153988 145153988 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014795.3 -1 reviewed p.E1020K 1.000 127 0% 115 27% 9 0% benign(0.313) deleterious(0) deleterious(0.542) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZEB2 9839 genome.wustl.edu 37 2 145154156 145154156 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014795.3 -1 reviewed p.E964* 1.000 68 0% 70 37.1% 7 0% - - - NULL ZEB2 9839 genome.wustl.edu 37 2 145156387 145156387 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014795.3 -1 reviewed p.S789 0.998 230 0% 223 32.7% 3 0% - - - NULL ACVR2A 92 genome.wustl.edu 37 2 148684829 148684829 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001616.3 +1 reviewed p.E510* 1.000 101 0% 32 15.6% 10 30% - - - NULL KIF5C 3800 genome.wustl.edu 37 2 149840158 149840158 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000435030 +1 known p.E532* 1.000 115 0% 76 22.4% 1 0% - - - NULL RBM43 375287 genome.wustl.edu 37 2 152107699 152107699 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198557.2 -1 validated p.Q265H 0.000 133 0% 119 31.1% 3 66.6% possibly_damaging(0.903) deleterious(0.02) deleterious(0.741) NULL RIF1 55183 genome.wustl.edu 37 2 152285384 152285384 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018151.4 +1 reviewed p.K291N 1.000 222 0% 165 33.3% 1 0% probably_damaging(0.993) tolerated(0.25) deleterious(0.487) superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152314404 152314404 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018151.4 +1 reviewed p.R928* 0.994 121 0% 80 28.7% 3 66.6% - - - superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152316562 152316562 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018151.4 +1 reviewed p.S1002P 0.981 76 0% 62 24.2% 1 0% possibly_damaging(0.906) tolerated(0.16) neutral(0.419) superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152320704 152320704 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018151.4 +1 reviewed p.S1557L 1.000 85 0% 56 35.7% 2 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_ARM repeat NEB 4703 genome.wustl.edu 37 2 152354220 152354220 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000397336 -1 known p.E111* 0.670 300 0% 80 45% 0 - - - - HMMPfam_Nebulin,HMMSmart_NEBU NEB 4703 genome.wustl.edu 37 2 152376270 152376270 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004543.4 -1 reviewed p.E5797* 1.000 439 0% 193 16.6% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152382762 152382762 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004543.4 -1 reviewed p.E5619D 1.000 116 0.9% 90 32.2% 0 - possibly_damaging(0.924) tolerated(0.09) deleterious(0.669) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152385803 152385803 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004543.4 -1 reviewed p.R5518I 1.000 338 0% 152 39.5% 0 - possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152417604 152417604 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004543.4 -1 reviewed p.Y4673H 1.000 307 0.3% 130 26.2% 0 - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152425225 152425225 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004543.4 -1 reviewed p.K4146N 0.975 223 0% 88 33% 0 - probably_damaging(0.99) tolerated(0.59) neutral(0.446) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152473894 152473894 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004543.4 -1 reviewed p.R3479Q 0.081 236 0% 107 39.3% 0 - benign(0) tolerated(0.53) neutral(0.007) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152476200 152476200 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004543.4 -1 reviewed p.I3303R 1.000 95 0% 30 30% 0 - benign(0.13) deleterious(0.01) neutral(0.417) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152483686 152483686 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004543.4 -1 reviewed p.G3150C 1.000 223 0% 137 31.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nebulin NEB 4703 genome.wustl.edu 37 2 152521090 152521090 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004543.4 -1 reviewed p.K1792N 1.000 262 0% 133 26.3% 0 - probably_damaging(0.96) tolerated(0.17) neutral(0.462) HMMPfam_Nebulin ARL6IP6 151188 genome.wustl.edu 37 2 153616511 153616511 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_024526.1 +1 validated NULL 0.000 36 0% 16 50% 20 25% - - - - GALNT13 114805 genome.wustl.edu 37 2 155115644 155115644 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052917.2 +1 validated p.S323Y 1.000 214 0% 125 18.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotide-diphospho-sugar transferases KCNJ3 3760 genome.wustl.edu 37 2 155555701 155555701 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002239.2 +1 reviewed p.I138 1.000 83 0% 106 32.1% 0 - - - - HMMPfam_IRK,superfamily_SSF81324 GALNT5 11227 genome.wustl.edu 37 2 158157469 158157469 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014568.1 +1 provisional p.V799 0.999 120 0% 57 31.6% 0 - - - - superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases CCDC148 130940 genome.wustl.edu 37 2 159214991 159214991 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138803.3 -1 validated p.K39N 0.997 281 0.4% 260 24.2% 1 100% unknown(0) tolerated(0.06) - NULL PKP4 8502 genome.wustl.edu 37 2 159499130 159499130 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003628.3 +1 reviewed p.M610V 1.000 229 0% 111 35.1% 59 45.7% benign(0) tolerated(0.68) neutral(0.002) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat TANC1 85461 genome.wustl.edu 37 2 160085346 160085346 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033394.2 +1 validated p.E1364* 1.000 191 0% 142 14.8% 8 25% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like BAZ2B 29994 genome.wustl.edu 37 2 160193530 160193530 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013450.2 -1 validated p.R1907C 1.000 142 0% 88 39.8% 14 42.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CD302 9936 genome.wustl.edu 37 2 160637499 160637499 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014880.4 -1 validated p.M63I 1.000 135 0% 70 31.4% 4 25% possibly_damaging(0.444) tolerated(0.06) neutral(0.468) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like LY75 4065 genome.wustl.edu 37 2 160661724 160661724 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002349.2 -1 validated p.Y1667C 1.000 98 0% 117 35.9% 4 0% probably_damaging(0.994) tolerated(0.18) deleterious(0.508) NULL LY75 4065 genome.wustl.edu 37 2 160673370 160673370 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002349.2 -1 validated p.D1443Y 1.000 147 0% 122 33.6% 3 0% probably_damaging(1) tolerated(0.23) deleterious(0.541) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like LY75 4065 genome.wustl.edu 37 2 160734844 160734844 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002349.2 -1 validated p.L589F 1.000 186 0% 66 37.9% 0 - benign(0.231) tolerated(0.81) neutral(0.024) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like PLA2R1 22925 genome.wustl.edu 37 2 160832723 160832723 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007366.3 -1 validated p.L817 1.000 143 0% 64 37.5% 1 0% - - - HMMSmart_SM00034,superfamily_C-type lectin-like PLA2R1 22925 genome.wustl.edu 37 2 160889519 160889519 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007366.3 -1 validated p.G264 0.999 103 0% 120 28.3% 3 33.3% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like RBMS1 5937 genome.wustl.edu 37 2 161349838 161349838 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016836.3 -1 reviewed p.Y13H 1.000 43 0% 71 21.1% 12 50% benign(0.174) deleterious(0.02) neutral(0.399) NULL TANK 10010 genome.wustl.edu 37 2 162091940 162091940 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004180.2 +1 reviewed p.E397* 1.000 119 0% 212 28.8% 33 51.5% - - - NULL SLC4A10 57282 genome.wustl.edu 37 2 162711547 162711547 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022058.3 +1 reviewed p.L162I 1.000 175 0% 201 35.8% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A10 57282 genome.wustl.edu 37 2 162751211 162751211 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022058.3 +1 reviewed p.K376T 1.000 148 0% 92 17.4% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A10 57282 genome.wustl.edu 37 2 162757512 162757512 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022058.3 +1 reviewed p.R448Q 1.000 58 0% 41 19.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HCO3_cotransp SLC4A10 57282 genome.wustl.edu 37 2 162761399 162761399 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022058.3 +1 reviewed p.K547N 1.000 291 0% 364 34.6% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_HCO3_cotransp DPP4 1803 genome.wustl.edu 37 2 162865770 162865770 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001935.3 -1 reviewed p.R623Q 0.996 224 0% 144 27.1% 10 40% possibly_damaging(0.931) deleterious(0.01) deleterious(0.783) HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER,superfamily_alpha/beta-Hydrolases DPP4 1803 genome.wustl.edu 37 2 162875361 162875361 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001935.3 -1 reviewed e16-1 1.000 97 0% 192 31.8% 0 - - - - - DPP4 1803 genome.wustl.edu 37 2 162881411 162881411 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001935.3 -1 reviewed p.E309G 0.996 83 0% 103 31.1% 12 58.3% benign(0.001) tolerated(0.23) neutral(0.042) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP4 1803 genome.wustl.edu 37 2 162903517 162903517 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001935.3 -1 reviewed e4-1 1.000 82 0% 42 23.8% 0 - - - - - FAP 2191 genome.wustl.edu 37 2 163074612 163074612 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004460.2 -1 reviewed p.P216T 1.000 97 0% 72 34.7% 6 0% possibly_damaging(0.705) tolerated(0.09) deleterious(0.550) HMMPfam_DPPIV_N,superfamily_SSF82171 FAP 2191 genome.wustl.edu 37 2 163081011 163081011 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004460.2 -1 reviewed p.R109W 0.996 106 0% 90 24.4% 2 0% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_DPPIV_N,superfamily_SSF82171 GCA 25801 genome.wustl.edu 37 2 163216060 163216060 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012198.3 +1 validated p.D209N 1.000 167 0% 49 34.7% 24 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_EF-hand KCNH7 90134 genome.wustl.edu 37 2 163361151 163361151 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033272.2 -1 reviewed p.I310 1.000 231 0% 85 23.5% 0 - - - - NULL KCNH7 90134 genome.wustl.edu 37 2 163374286 163374286 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033272.2 -1 reviewed p.F282 1.000 132 0% 54 33.3% 0 - - - - NULL COBLL1 22837 genome.wustl.edu 37 2 165578992 165578992 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000452626 -1 known p.E237* 0.966 131 0% 50 36% 5 60% benign(0.007) tolerated(0.17) neutral(0.059) HMMPfam_Cobl SCN3A 6328 genome.wustl.edu 37 2 165953889 165953889 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006922.3 -1 reviewed p.N1371S 0.059 136 0% 67 26.9% 0 - benign(0) tolerated(0.68) neutral(0.002) HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 166012313 166012313 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006922.3 -1 reviewed p.R378* 1.000 110 0% 90 24.4% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN2A 6326 genome.wustl.edu 37 2 166170495 166170495 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040142.1 +1 reviewed p.I420 1.000 121 0% 68 41.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166183419 166183419 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040142.1 +1 reviewed p.M692L 1.000 119 0% 88 29.5% 0 - benign(0.019) tolerated(0.48) neutral(0.011) NULL SCN2A 6326 genome.wustl.edu 37 2 166187839 166187839 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040142.1 +1 reviewed e13-1 1.000 209 0% 75 30.7% 0 - - - - - SCN2A 6326 genome.wustl.edu 37 2 166198894 166198894 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040142.1 +1 reviewed p.F826C 1.000 351 0% 305 30.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166243300 166243300 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040142.1 +1 reviewed p.V1532 1.000 198 0% 87 25.3% 0 - - - - superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166245897 166245897 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040142.1 +1 reviewed p.F1861V 1.000 157 0% 48 41.7% 0 - possibly_damaging(0.878) tolerated(0.15) deleterious(0.583) NULL SCN2A 6326 genome.wustl.edu 37 2 166245993 166245993 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040142.1 +1 reviewed p.Y1893D 1.000 151 0% 28 32.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SCN2A 6326 genome.wustl.edu 37 2 166246017 166246017 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040142.1 +1 reviewed p.K1901Q 1.000 143 0% 33 42.4% 0 - possibly_damaging(0.585) tolerated(0.15) neutral(0.443) NULL GALNT3 2591 genome.wustl.edu 37 2 166615931 166615931 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004482.3 -1 reviewed p.N330H 1.000 157 0% 60 30% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases TTC21B 79809 genome.wustl.edu 37 2 166737308 166737308 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024753.3 -1 validated p.S1229F 1.000 137 0% 32 25% 12 41.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like SCN1A 6323 genome.wustl.edu 37 2 166866266 166866266 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006920.4 -1 reviewed p.R1311K 1.000 179 0% 99 42.4% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Ion_trans,superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166895980 166895980 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006920.4 -1 reviewed p.G837* 1.000 107 0.9% 42 21.4% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN9A 6335 genome.wustl.edu 37 2 167134735 167134735 + Missense_Mutation SNP A A C rs182018126 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002977.3 -1 reviewed p.F800C 1.000 136 0% 47 34% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN9A 6335 genome.wustl.edu 37 2 167151116 167151116 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002977.3 -1 reviewed p.D320Y 1.000 96 0% 44 31.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN9A 6335 genome.wustl.edu 37 2 167160633 167160633 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000375387 -1 known e5-1 1.000 163 0% 106 30.2% 0 - - - - - SCN9A 6335 genome.wustl.edu 37 2 167162338 167162338 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002977.3 -1 reviewed p.P187L 1.000 95 0% 70 45.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167284334 167284334 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002976.2 -1 validated p.F939L 0.999 176 0% 86 27.9% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167334152 167334152 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002976.2 -1 validated p.E19* 1.000 116 0% 62 32.3% 0 - - - - NULL SCN7A 6332 genome.wustl.edu 37 2 167334199 167334199 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002976.2 -1 validated p.A3D 0.486 91 0% 50 36% 0 - benign(0.397) tolerated(0.11) neutral(0.399) NULL XIRP2 129446 genome.wustl.edu 37 2 168099253 168099253 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152381.4 +1 validated p.E451* 1.000 91 0% 80 22.5% 0 - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168101155 168101155 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152381.4 +1 validated p.D1085Y 1.000 52 0% 32 28.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL XIRP2 129446 genome.wustl.edu 37 2 168101526 168101526 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152381.4 +1 validated p.S1208 0.863 75 0% 48 20.8% 0 - - - - HMMPfam_Xin XIRP2 129446 genome.wustl.edu 37 2 168101980 168101980 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152381.4 +1 validated p.D1360Y 1.000 59 0% 31 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Xin XIRP2 129446 genome.wustl.edu 37 2 168102428 168102428 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152381.4 +1 validated p.I1509S 0.000 44 0% 27 33.3% 0 - benign(0.002) tolerated(0.15) neutral(0.241) NULL XIRP2 129446 genome.wustl.edu 37 2 168103637 168103637 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152381.4 +1 validated p.I1912S 0.653 39 0% 42 28.6% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL XIRP2 129446 genome.wustl.edu 37 2 168104479 168104479 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152381.4 +1 validated p.K2193E 0.890 28 0% 13 61.5% 0 - benign(0.011) deleterious(0.02) neutral(0.384) NULL XIRP2 129446 genome.wustl.edu 37 2 168106632 168106632 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152381.4 +1 validated p.F2910L 0.107 59 0% 30 43.3% 0 - benign(0.009) tolerated(0.45) neutral(0.013) NULL XIRP2 129446 genome.wustl.edu 37 2 168107852 168107852 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152381.4 +1 validated p.R3317Q 0.008 95 0% 29 62.1% 0 - benign(0.402) tolerated(0.53) neutral(0.137) NULL XIRP2 129446 genome.wustl.edu 37 2 168108050 168108050 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152381.4 +1 validated p.N3383S 0.502 99 0% 38 31.6% 0 - benign(0.005) tolerated(0.5) neutral(0.010) NULL STK39 27347 genome.wustl.edu 37 2 168869207 168869207 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013233.2 -1 reviewed p.A479S 1.000 94 0% 56 35.7% 42 59.5% probably_damaging(0.969) deleterious(0.01) deleterious(0.817) NULL NOSTRIN 115677 genome.wustl.edu 37 2 169711899 169711899 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039724.3 +1 validated p.R298Q 0.976 68 0% 40 35% 0 - possibly_damaging(0.843) tolerated(0.08) deleterious(0.623) NULL NOSTRIN 115677 genome.wustl.edu 37 2 169713243 169713243 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039724.3 +1 validated p.F336L 0.998 88 0% 89 34.8% 2 0% probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL NOSTRIN 115677 genome.wustl.edu 37 2 169721449 169721449 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039724.3 +1 validated p.S497* 0.000 158 0% 79 27.8% 1 0% - - - superfamily_SH3-domain G6PC2 57818 genome.wustl.edu 37 2 169757922 169757922 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021176.2 +1 reviewed p.N27K 0.816 260 0% 167 35.3% 0 - possibly_damaging(0.78) tolerated(0.3) neutral(0.320) superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase ABCB11 8647 genome.wustl.edu 37 2 169781178 169781178 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003742.2 -1 reviewed p.E1252* 1.000 110 0% 82 25.6% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB11 8647 genome.wustl.edu 37 2 169787204 169787204 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003742.2 -1 reviewed p.R1128C 1.000 69 0% 47 25.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB11 8647 genome.wustl.edu 37 2 169851941 169851941 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003742.2 -1 reviewed p.F177V 0.000 184 0% 80 22.5% 0 - benign(0) tolerated(0.38) neutral(0.018) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain LRP2 4036 genome.wustl.edu 37 2 169985309 169985309 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004525.2 -1 reviewed p.A4611V 0.000 185 0.5% 101 23.8% 1 100% benign(0) tolerated(1) - NULL LRP2 4036 genome.wustl.edu 37 2 169985569 169985569 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004525.2 -1 reviewed p.R4585Q 1.000 260 0% 99 33.3% 1 0% possibly_damaging(0.948) tolerated(0.16) neutral(0.451) NULL LRP2 4036 genome.wustl.edu 37 2 170018981 170018981 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004525.2 -1 reviewed e63+1 1.000 70 0% 34 38.2% 0 - - - - - LRP2 4036 genome.wustl.edu 37 2 170026220 170026220 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004525.2 -1 reviewed p.A3830D 0.271 96 0% 60 33.3% 0 - possibly_damaging(0.736) tolerated(0.56) neutral(0.276) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170129436 170129436 + Splice_Site SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004525.2 -1 reviewed e15+1 1.000 101 0% 28 39.3% 0 - - - - - BBS5 129880 genome.wustl.edu 37 2 170361000 170361000 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152384.2 +1 reviewed p.R312C 1.000 187 0% 431 33.6% 11 72.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DUF1448 C2orf77 129881 genome.wustl.edu 37 2 170531150 170531150 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001085447.1 -1 validated p.E200* 1.000 361 0% 220 33.6% 0 - - - - NULL C2orf77 129881 genome.wustl.edu 37 2 170531481 170531481 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001085447.1 -1 validated p.L122I 0.988 184 0% 162 29.6% 0 - benign(0.035) tolerated(1) neutral(0.002) NULL KLHL23 151230 genome.wustl.edu 37 2 170598005 170598005 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144711.4 +1 validated p.D442Y 1.000 116 0% 148 39.2% 23 47.8% possibly_damaging(0.697) tolerated(0.09) deleterious(0.546) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central MYO3B 140469 genome.wustl.edu 37 2 171256757 171256757 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138995.3 +1 validated p.F617 1.000 189 0% 132 34.1% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases GAD1 2571 genome.wustl.edu 37 2 171700566 171700566 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000817.2 +1 reviewed p.E217G 1.000 371 0% 210 27.6% 25 64% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases TLK1 9874 genome.wustl.edu 37 2 171906409 171906409 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012290.4 -1 validated p.R299C 1.000 244 0% 86 34.9% 23 34.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HAT1 8520 genome.wustl.edu 37 2 172822372 172822372 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003642.3 +1 reviewed p.F185C 1.000 241 0% 132 43.9% 81 38.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acyl_CoA_acyltransferase,HMMPfam_Hat1_N PDK1 5163 genome.wustl.edu 37 2 173423506 173423506 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002610.3 +1 reviewed p.N89 1.000 182 0% 314 25.8% 5 20% - - - HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain ZAK 51776 genome.wustl.edu 37 2 174062757 174062757 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016653.2 +1 reviewed p.L196I 1.000 72 0% 37 18.9% 13 23% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ZAK 51776 genome.wustl.edu 37 2 174103112 174103112 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016653.2 +1 reviewed p.E405D 1.000 222 0% 109 33% 9 55.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 ZAK 51776 genome.wustl.edu 37 2 174103136 174103136 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016653.2 +1 reviewed p.N413K 0.959 223 0% 108 27.8% 3 0% possibly_damaging(0.692) deleterious(0.02) deleterious(0.631) superfamily_SAM/Pointed domain SP3 6670 genome.wustl.edu 37 2 174783367 174783367 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003111.4 -1 reviewed p.R596W 1.000 177 0% 80 38.8% 62 46.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OLA1 29789 genome.wustl.edu 37 2 174943727 174943727 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013341.3 -1 validated p.F353C 1.000 212 0% 78 37.2% 144 48.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_TGS-like,HMMPfam_YchF-GTPase_C CIR1 9541 genome.wustl.edu 37 2 175245447 175245447 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000414336 -1 known p.F87C 0.995 117 0% 63 33.3% 0 - probably_damaging(0.987) deleterious(0.03) deleterious(0.801) NULL GPR155 151556 genome.wustl.edu 37 2 175337892 175337892 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033045.2 -1 validated p.F221V 1.000 92 0% 97 25.8% 2 50% benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_Mem_trans LOC100133109 100133109 genome.wustl.edu 37 2 175584825 175584825 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001716442.2 -1 model p.A51 1.000 44 0% 98 31.6% 1115 0.1% - - - NULL CHRNA1 1134 genome.wustl.edu 37 2 175612927 175612927 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039523.2 -1 reviewed p.V458 1.000 48 0% 27 37% 2 0% - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore CHRNA1 1134 genome.wustl.edu 37 2 175613438 175613438 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039523.2 -1 reviewed p.I396T 1.000 257 0% 162 25.3% 0 - benign(0.012) tolerated(0.63) neutral(0.004) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore KIAA1715 80856 genome.wustl.edu 37 2 176794849 176794849 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030650.1 -1 validated p.Q378R 0.005 324 0% 181 32.6% 5 40% benign(0.15) tolerated(0.28) neutral(0.044) NULL KIAA1715 80856 genome.wustl.edu 37 2 176802203 176802203 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030650.1 -1 validated p.R308I 1.000 84 0% 54 44.4% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1715 80856 genome.wustl.edu 37 2 176812419 176812419 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030650.1 -1 validated p.E165D 1.000 144 0% 59 15.3% 10 20% possibly_damaging(0.638) tolerated(0.14) deleterious(0.473) NULL EVX2 344191 genome.wustl.edu 37 2 176946920 176946920 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080458.1 -1 reviewed p.E229K 1.000 13 0% 19 36.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 HOXD12 3238 genome.wustl.edu 37 2 176964887 176964887 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021193.3 +1 reviewed p.A120T 0.202 15 0% 33 24.2% 0 - benign(0.01) tolerated(0.19) neutral(0.050) NULL HOXD8 3234 genome.wustl.edu 37 2 176996289 176996289 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019558.2 +1 reviewed p.K274N 1.000 59 0% 165 41.2% 1 0% possibly_damaging(0.92) deleterious(0.03) deleterious(0.736) NULL HOXD4 3233 genome.wustl.edu 37 2 177017375 177017375 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014621.2 +1 reviewed p.R158Q 1.000 44 0% 65 24.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like HNRNPA3 220988 genome.wustl.edu 37 2 178081427 178081427 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194247.2 +1 validated p.F223V 1.000 338 0% 501 33.7% 732 52.5% unknown(0) tolerated(0.06) - superfamily_RNA-binding domain RBD AGPS 8540 genome.wustl.edu 37 2 178364455 178364455 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003659.3 +1 reviewed p.F491C 1.000 160 0% 94 13.8% 26 11.5% possibly_damaging(0.808) deleterious(0.01) deleterious(0.710) HMMPfam_FAD-oxidase_C,superfamily_FAD-linked oxidases C-terminal domain TTC30A 92104 genome.wustl.edu 37 2 178482001 178482001 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152275.3 -1 validated p.E477* 1.000 254 0% 345 27.5% 2 0% - - - superfamily_SSF48452 OSBPL6 114880 genome.wustl.edu 37 2 179257189 179257189 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145739.1 +1 reviewed p.I837V 1.000 130 0% 67 23.9% 6 0% benign(0.372) tolerated(0.54) neutral(0.126) HMMPfam_Oxysterol_BP FKBP7 51661 genome.wustl.edu 37 2 179343185 179343185 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181342.2 -1 reviewed p.F14L 0.977 95 0% 151 23.2% 8 25% benign(0.009) tolerated(0.18) neutral(0.057) NULL TTN 7273 genome.wustl.edu 37 2 179398193 179398193 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.E31813D 0.998 83 0% 26 38.5% 0 - benign(0.34) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179403859 179403859 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.E30365K 1.000 248 0% 93 30.1% 1 0% probably_damaging(0.998) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179411892 179411892 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.L28884F 1.000 208 0% 61 23% 0 - probably_damaging(0.998) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179412572 179412572 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.R28691* 0.996 188 0% 93 26.9% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179412646 179412646 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.D28666G 1.000 100 0% 39 28.2% 0 - probably_damaging(0.978) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179413522 179413522 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.R28374H 0.999 133 0% 53 32.1% 0 - probably_damaging(0.999) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179414075 179414075 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.E28190K 1.000 157 0% 98 36.7% 0 - probably_damaging(0.978) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179423343 179423343 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.K26378T 1.000 142 0% 53 30.2% 0 - possibly_damaging(0.754) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179425090 179425090 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.R26020Q 1.000 181 0% 68 29.4% 0 - probably_damaging(0.998) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179429918 179429918 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.R24411W 0.395 109 0.9% 39 25.6% 0 - probably_damaging(0.999) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179430890 179430890 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.D24087Y 1.000 149 0% 65 23.1% 0 - probably_damaging(0.991) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179431075 179431075 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.D24025A 1.000 105 0% 51 27.5% 0 - probably_damaging(0.957) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179434801 179434801 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.R22783I 1.000 207 0% 84 17.9% 0 - possibly_damaging(0.847) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179435059 179435059 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.T22697N 1.000 116 0% 52 34.6% 0 - possibly_damaging(0.922) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179435925 179435925 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.E22408D 1.000 87 1.1% 57 28.1% 0 - possibly_damaging(0.77) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179436515 179436515 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.D22212Y 1.000 77 0% 54 38.9% 0 - probably_damaging(0.995) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179438145 179438145 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133378.4 -1 reviewed p.R21670Q 0.002 95 0% 67 19.4% 2 0% - - - NULL TTN 7273 genome.wustl.edu 37 2 179439334 179439334 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.S21272* 0.995 129 0% 47 21.3% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179444876 179444876 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.I19810L 0.988 126 0% 56 32.1% 0 - benign(0.25) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179455045 179455045 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.D17899E 0.880 195 0.5% 103 34% 0 - benign(0.099) - - NULL TTN 7273 genome.wustl.edu 37 2 179455848 179455848 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.S17632R 1.000 122 0% 53 39.6% 0 - benign(0.099) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179465831 179465831 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.W16032* 1.000 73 0% 45 31.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179466439 179466439 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.T15892A 1.000 335 0% 114 9.6% 0 - benign(0.099) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179468802 179468802 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.E15636D 1.000 109 0% 46 23.9% 0 - possibly_damaging(0.857) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179474958 179474958 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.S14531A 1.000 108 0% 46 28.3% 0 - benign(0.099) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179476144 179476144 + Missense_Mutation SNP C C T rs72677250 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.E14370K 1.000 74 1.4% 37 18.9% 0 - benign(0.099) - - HMMPfam_fn3 TTN 7273 genome.wustl.edu 37 2 179477257 179477257 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.K14097N 1.000 296 0% 81 13.6% 0 - benign(0.29) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179477764 179477764 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.D13994Y 1.000 159 0.6% 49 30.6% 0 - benign(0.127) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179495608 179495608 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.R12125C 1.000 189 0% 64 31.2% 0 - possibly_damaging(0.737) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179501357 179501357 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.F11131 0.000 88 0% 30 60% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179504516 179504516 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known e171-1 1.000 295 0% 96 21.9% 0 - - - - - TTN 7273 genome.wustl.edu 37 2 179536755 179536755 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.E10423K 0.000 120 0% 62 19.4% 0 - unknown(0) deleterious(0) - NULL TTN 7273 genome.wustl.edu 37 2 179536869 179536869 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.E10385* 1.000 139 0% 94 36.2% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179559594 179559594 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.S9193Y 1.000 265 0% 234 32.5% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL TTN 7273 genome.wustl.edu 37 2 179584794 179584794 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.E6615* 0.997 184 0% 63 28.6% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179587516 179587516 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.R6126S 0.997 83 0% 39 17.9% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179588272 179588272 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.I5941 1.000 177 0% 80 32.5% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179591897 179591897 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.T5488I 0.872 95 0% 37 16.2% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179596569 179596569 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356127 -1 known p.R4434Q 0.981 85 0% 41 26.8% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179610759 179610759 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133379.3 -1 reviewed p.V5456 0.956 85 0% 43 39.5% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179611061 179611061 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133379.3 -1 reviewed p.D5356N 0.994 60 0% 10 50% 0 - benign(0.105) deleterious(0) neutral(0.453) NULL TTN 7273 genome.wustl.edu 37 2 179614718 179614718 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133379.3 -1 reviewed p.D4137Y 0.429 130 0% 44 27.3% 0 - benign(0.187) deleterious(0.04) neutral(0.366) NULL TTN 7273 genome.wustl.edu 37 2 179615408 179615408 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133379.3 -1 reviewed p.E3907* 0.016 110 0% 26 23.1% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179615606 179615606 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133379.3 -1 reviewed p.E3841* 0.980 95 0% 44 25% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179616189 179616189 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133379.3 -1 reviewed p.Q3646H 1.000 228 0% 153 33.3% 0 - possibly_damaging(0.653) deleterious(0.02) deleterious(0.613) NULL TTN 7273 genome.wustl.edu 37 2 179638266 179638266 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133379.3 -1 reviewed p.R2506Q 1.000 142 0% 62 29% 0 - benign(0.287) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179641986 179641986 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133379.3 -1 reviewed p.K1568 1.000 263 0% 116 35.3% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 CCDC141 285025 genome.wustl.edu 37 2 179701780 179701780 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173648.2 -1 provisional p.R814Q 0.046 88 0% 24 25% 0 - benign(0.001) tolerated(1) - NULL CCDC141 285025 genome.wustl.edu 37 2 179721095 179721095 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173648.2 -1 provisional p.K343N 1.000 146 0% 52 38.5% 0 - probably_damaging(1) tolerated(0.44) deleterious(0.512) NULL CCDC141 285025 genome.wustl.edu 37 2 179732910 179732910 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173648.2 -1 provisional p.R231K 0.859 128 0% 52 44.2% 0 - benign(0) tolerated(0.68) neutral(0.002) NULL CCDC141 285025 genome.wustl.edu 37 2 179742843 179742843 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173648.2 -1 provisional p.E8* 0.017 107 0% 48 33.3% 0 - - - - NULL ZNF385B 151126 genome.wustl.edu 37 2 180383263 180383263 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152520.4 -1 validated p.N167H 1.000 81 0% 43 32.6% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF385B 151126 genome.wustl.edu 37 2 180634389 180634389 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152520.4 -1 validated p.L32I 1.000 94 0% 73 26% 2 50% probably_damaging(0.99) tolerated(0.13) deleterious(0.694) HMMSmart_SM00451 ITGA4 3676 genome.wustl.edu 37 2 182400167 182400167 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000885.4 +1 reviewed p.F1004L 1.000 114 0% 57 12.3% 9 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Integrin_alpha,PatternScan_INTEGRIN_ALPHA CERKL 375298 genome.wustl.edu 37 2 182423343 182423343 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001030311.2 -1 reviewed p.R283Q 0.000 105 0% 25 40% 0 - benign(0.312) tolerated(0.34) neutral(0.120) HMMPfam_DAGK_cat CERKL 375298 genome.wustl.edu 37 2 182438595 182438595 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001030311.2 -1 reviewed p.P166 0.319 167 0% 67 29.9% 0 - - - - NULL CERKL 375298 genome.wustl.edu 37 2 182468661 182468661 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001030311.2 -1 reviewed p.K128N 1.000 153 0% 154 28.6% 0 - possibly_damaging(0.604) tolerated(0.18) neutral(0.266) NULL SSFA2 6744 genome.wustl.edu 37 2 182781023 182781023 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130445.1 +1 validated p.G886R 0.261 98 0% 80 27.5% 130 50% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL SSFA2 6744 genome.wustl.edu 37 2 182781108 182781108 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130445.1 +1 validated p.R914Q 1.000 99 0% 60 38.3% 80 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SSFA2 6744 genome.wustl.edu 37 2 182781129 182781129 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130445.1 +1 validated p.R921I 1.000 88 0% 56 32.1% 72 45.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SSFA2 6744 genome.wustl.edu 37 2 182794332 182794332 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006751.5 +1 validated p.M1240I 0.002 354 0% 376 36.4% 94 53.1% benign(0.053) - - NULL PDE1A 5136 genome.wustl.edu 37 2 183066439 183066439 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005019.3 -1 validated p.R343I 0.986 92 0% 44 40.9% 4 25% possibly_damaging(0.893) deleterious(0) deleterious(0.796) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 PDE1A 5136 genome.wustl.edu 37 2 183088671 183088671 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005019.3 -1 validated p.E248D 1.000 131 0% 63 30.2% 3 100% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 DNAJC10 54431 genome.wustl.edu 37 2 183616503 183616503 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018981.1 +1 provisional p.F475L 1.000 176 0% 58 24.1% 140 38.5% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1 DNAJC10 54431 genome.wustl.edu 37 2 183623602 183623602 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018981.1 +1 provisional p.R661I 1.000 155 0% 65 12.3% 90 8.8% benign(0.104) deleterious(0.03) neutral(0.372) superfamily_Thioredoxin-like DNAJC10 54431 genome.wustl.edu 37 2 183627513 183627513 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018981.1 +1 provisional p.F750L 0.873 137 0% 69 14.5% 123 21.1% benign(0) tolerated(0.67) neutral(0.003) superfamily_Thioredoxin-like FRZB 2487 genome.wustl.edu 37 2 183707234 183707234 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001463.3 -1 reviewed p.K188N 1.000 277 0% 144 27.1% 12 0% possibly_damaging(0.719) deleterious(0.05) deleterious(0.606) superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643 NCKAP1 10787 genome.wustl.edu 37 2 183822299 183822299 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_205842.1 -1 validated p.T642N 1.000 219 0% 132 30.3% 91 36.2% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Nckap1 NCKAP1 10787 genome.wustl.edu 37 2 183832075 183832075 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_205842.1 -1 validated p.V505 0.986 147 0% 122 13.9% 42 14.2% - - - HMMPfam_Nckap1 ZNF804A 91752 genome.wustl.edu 37 2 185802001 185802001 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194250.1 +1 provisional p.Y626 0.000 31 0% 22 22.7% 0 - - - - NULL ZNF804A 91752 genome.wustl.edu 37 2 185802503 185802503 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194250.1 +1 provisional p.E794* 0.689 70 0% 35 22.9% 0 - - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186672397 186672397 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000424728 +1 known p.L6122I 0.000 53 0% 16 31.2% 0 - possibly_damaging(0.905) tolerated(0.65) neutral(0.362) NULL FSIP2 401024 genome.wustl.edu 37 2 186672915 186672915 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000424728 +1 known p.S6294 0.712 28 0% 16 31.2% 0 - - - - NULL ZSWIM2 151112 genome.wustl.edu 37 2 187694533 187694533 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182521.2 -1 validated p.A339D 0.994 192 0% 57 36.8% 0 - probably_damaging(0.983) tolerated(0.08) deleterious(0.729) superfamily_SSF57850 GULP1 51454 genome.wustl.edu 37 2 189434064 189434064 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016315.2 +1 validated p.I166 0.988 126 0% 55 30.9% 21 38% - - - NULL COL3A1 1281 genome.wustl.edu 37 2 189856252 189856252 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000090.3 +1 reviewed p.P298S 0.998 149 0% 51 27.5% 142 0% unknown(0) tolerated(0.67) - HMMPfam_Collagen COL5A2 1290 genome.wustl.edu 37 2 189899834 189899834 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000393.3 -1 reviewed p.M1387I 1.000 191 0% 111 25.2% 18 5.5% benign(0.024) - - HMMPfam_COLFI,HMMSmart_COLFI COL5A2 1290 genome.wustl.edu 37 2 189901397 189901397 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000393.3 -1 reviewed p.K1353R 0.824 143 0% 62 27.4% 27 3.7% benign(0.015) - - HMMPfam_COLFI,HMMSmart_COLFI COL5A2 1290 genome.wustl.edu 37 2 189906338 189906338 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000393.3 -1 reviewed p.G1203C 1.000 162 0% 77 31.2% 20 5% probably_damaging(1) - - HMMPfam_Collagen COL5A2 1290 genome.wustl.edu 37 2 189932755 189932755 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000393.3 -1 reviewed p.I463L 1.000 50 0% 21 28.6% 21 0% benign(0.113) - - HMMPfam_Collagen COL5A2 1290 genome.wustl.edu 37 2 189962013 189962013 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000393.3 -1 reviewed p.K149R 1.000 197 0% 97 30.9% 17 5.8% unknown(0) - - HMMPfam_Collagen WDR75 84128 genome.wustl.edu 37 2 190333265 190333265 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032168.1 +1 provisional p.L565I 0.999 207 0% 87 21.8% 79 24% possibly_damaging(0.775) tolerated(0.19) neutral(0.338) HMMSmart_WD40,superfamily_WD40_like ASNSD1 54529 genome.wustl.edu 37 2 190532496 190532496 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019048.2 +1 validated p.L491I 1.000 195 0% 280 33.9% 76 39.4% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_Asn_synthase,superfamily_Adenine nucleotide alpha hydrolases-like ANKAR 150709 genome.wustl.edu 37 2 190554523 190554523 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144708.3 +1 validated p.R220I 0.996 38 0% 29 44.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat OSGEPL1 64172 genome.wustl.edu 37 2 190618697 190618697 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022353.2 -1 validated p.R303Q 1.000 87 1.1% 82 34.1% 14 35.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Peptidase_M22,superfamily_Actin-like ATPase domain PMS1 5378 genome.wustl.edu 37 2 190738244 190738244 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000534.4 +1 reviewed p.Y832* 0.781 67 0% 53 39.6% 13 38.4% - - - NULL NAB1 4664 genome.wustl.edu 37 2 191535078 191535078 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005966.3 +1 validated p.Q282H 1.000 136 0% 65 23.1% 15 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NCD2 STAT1 6772 genome.wustl.edu 37 2 191873747 191873747 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007315.3 -1 reviewed p.S72Y 0.948 130 0% 169 24.9% 191 37.1% possibly_damaging(0.862) tolerated(0.08) deleterious(0.633) HMMPfam_STAT_int,superfamily_Transcription factor STAT-4 N-domain OBFC2A 64859 genome.wustl.edu 37 2 192543425 192543425 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031716.2 +1 validated p.E29K 1.000 36 0% 71 26.8% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA_anti,superfamily_Nucleic acid-binding proteins DNAH7 56171 genome.wustl.edu 37 2 196729466 196729466 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018897.2 -1 validated p.N2305D 1.000 224 0% 98 35.7% 0 - benign(0.019) tolerated(0.45) neutral(0.013) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196741293 196741293 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018897.2 -1 validated p.F2031S 1.000 320 0% 224 33.9% 1 0% probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196749416 196749416 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018897.2 -1 validated p.R1886* 0.995 134 0% 86 40.7% 0 - - - - NULL DNAH7 56171 genome.wustl.edu 37 2 196825023 196825023 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018897.2 -1 validated p.R951Q 1.000 88 1.1% 42 16.7% 0 - probably_damaging(0.963) tolerated(0.35) neutral(0.426) HMMPfam_DHC_N2 DNAH7 56171 genome.wustl.edu 37 2 196825608 196825608 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018897.2 -1 validated p.R756L 0.994 100 0% 64 39.1% 0 - probably_damaging(0.998) tolerated(0.83) deleterious(0.475) HMMPfam_DHC_N2 DNAH7 56171 genome.wustl.edu 37 2 196877605 196877605 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018897.2 -1 validated p.E299* 1.000 107 0.9% 33 15.2% 0 - - - - NULL HECW2 57520 genome.wustl.edu 37 2 197105187 197105187 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020760.1 -1 provisional p.F1250 0.977 159 0% 96 24% 1 0% - - - HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECW2 57520 genome.wustl.edu 37 2 197184518 197184518 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020760.1 -1 provisional p.V366L 0.000 60 0% 47 19.1% 0 - possibly_damaging(0.465) deleterious(0.01) deleterious(0.558) NULL CCDC150 284992 genome.wustl.edu 37 2 197521765 197521765 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080539.1 +1 provisional p.R161C 1.000 85 0% 42 23.8% 4 75% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CCDC150 284992 genome.wustl.edu 37 2 197583239 197583239 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080539.1 +1 provisional p.L627I 1.000 96 0% 57 22.8% 3 66.6% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL CCDC150 284992 genome.wustl.edu 37 2 197584294 197584294 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080539.1 +1 provisional p.V690G 1.000 190 0% 64 31.2% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL CCDC150 284992 genome.wustl.edu 37 2 197586363 197586363 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080539.1 +1 provisional p.Q793K 0.986 90 0% 63 31.7% 9 55.5% possibly_damaging(0.891) tolerated(0.79) neutral(0.351) NULL GTF3C3 9330 genome.wustl.edu 37 2 197654675 197654675 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012086.2 -1 provisional p.E219* 1.000 153 0% 86 36% 19 5.2% - - - HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_Protein prenylyltransferase PGAP1 80055 genome.wustl.edu 37 2 197710714 197710714 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024989.3 -1 validated p.K726N 0.796 115 0% 58 34.5% 32 40.6% benign(0.344) tolerated(0.23) neutral(0.150) NULL ANKRD44 91526 genome.wustl.edu 37 2 197863762 197863762 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153697.1 -1 provisional p.A820V 1.000 76 0% 57 33.3% 5 80% benign(0.354) tolerated(1) neutral(0.112) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD44 91526 genome.wustl.edu 37 2 197953515 197953515 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000424317 -1 known p.E204 1.000 103 0% 52 23.1% 2 50% - - - superfamily_Ankyrin repeat SF3B1 23451 genome.wustl.edu 37 2 198265007 198265007 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012433.2 -1 reviewed p.R957Q 1.000 131 0% 55 25.5% 299 39.7% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_HEAT,superfamily_ARM repeat HSPD1 3329 genome.wustl.edu 37 2 198351846 198351846 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002156.4 -1 reviewed p.I549S 1.000 65 0% 49 38.8% 223 38.5% benign(0.043) tolerated(0.43) neutral(0.016) HMMPfam_Cpn60_TCP1 MOB4 25843 genome.wustl.edu 37 2 198415026 198415026 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015387.3 +1 reviewed p.A154 1.000 328 0% 173 28.9% 50 42% - - - HMMPfam_Mob1_phocein,superfamily_Mob1/phocein RFTN2 130132 genome.wustl.edu 37 2 198480650 198480650 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000414909 -1 known e3-1 0.996 119 0% 178 28.1% 1 0% - - - - RFTN2 130132 genome.wustl.edu 37 2 198495919 198495919 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144629.2 -1 validated p.V248 0.998 78 0% 88 27.3% 0 - - - - NULL PLCL1 5334 genome.wustl.edu 37 2 198948734 198948734 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006226.3 +1 validated p.E67* 1.000 164 0% 62 30.6% 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PLCL1 5334 genome.wustl.edu 37 2 198949349 198949349 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006226.3 +1 validated p.G272W 1.000 47 0% 44 11.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_efhand_like,superfamily_SSF47473 PLCL1 5334 genome.wustl.edu 37 2 198950106 198950106 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006226.3 +1 validated p.R524H 1.000 68 0% 26 53.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl PLCL1 5334 genome.wustl.edu 37 2 198950117 198950117 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006226.3 +1 validated p.E528* 1.000 71 0% 24 29.2% 0 - - - - HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl C2orf69 205327 genome.wustl.edu 37 2 200790465 200790465 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153689.5 +1 validated p.D338E 1.000 78 0% 63 46% 13 38.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UPF0565 TYW5 129450 genome.wustl.edu 37 2 200803696 200803696 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039693.2 -1 validated p.R149Q 1.000 163 0% 121 30.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00558,superfamily_Clavaminate synthase-like SPATS2L 26010 genome.wustl.edu 37 2 201281125 201281125 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100422.1 +1 validated p.E58* 1.000 203 0% 115 36.5% 22 13.6% - - - NULL SPATS2L 26010 genome.wustl.edu 37 2 201332102 201332102 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100422.1 +1 validated p.E313K 1.000 30 0% 24 25% 57 17.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_DUF1387 SGOL2 151246 genome.wustl.edu 37 2 201399861 201399861 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152524.5 +1 validated p.E92D 1.000 64 0% 48 22.9% 4 75% possibly_damaging(0.94) tolerated(0.17) neutral(0.444) HMMPfam_Shugoshin_N SGOL2 151246 genome.wustl.edu 37 2 201436223 201436223 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152524.5 +1 validated p.K385I 0.702 40 0% 25 44% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SGOL2 151246 genome.wustl.edu 37 2 201437221 201437221 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152524.5 +1 validated p.R718W 0.944 50 0% 38 18.4% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SGOL2 151246 genome.wustl.edu 37 2 201438555 201438555 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152524.5 +1 validated p.L1162F 0.002 177 0% 120 32.5% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AOX1 316 genome.wustl.edu 37 2 201531411 201531411 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001159.3 +1 reviewed p.N1182T 0.998 58 0% 47 21.3% 7 0% benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_Ald_Xan_dh_C2,superfamily_Molybdenum cofactor-binding domain BZW1 9689 genome.wustl.edu 37 2 201683507 201683507 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014670.2 +1 validated p.K283N 1.000 127 0% 171 32.2% 70 45.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_W2,superfamily_ARM-type_fold CLK1 1195 genome.wustl.edu 37 2 201722492 201722492 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004071.3 -1 reviewed p.R261* 1.000 96 0% 122 32% 67 34.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CFLAR 8837 genome.wustl.edu 37 2 202028696 202028696 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127183.1 +1 validated p.*481 0.456 92 0% 196 14.8% 22 22.7% - - - NULL CASP10 843 genome.wustl.edu 37 2 202050566 202050566 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032977.3 +1 reviewed p.E22D 0.001 37 0% 28 35.7% 1 0% benign(0.242) tolerated(0.54) neutral(0.032) HMMPfam_DED,HMMSmart_DED,superfamily_DEATH_like CASP8 841 genome.wustl.edu 37 2 202137360 202137360 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000444430 +1 known p.E1* 0.988 148 0% 62 32.3% 0 - - - - NULL ALS2CR12 130540 genome.wustl.edu 37 2 202213016 202213016 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139163.2 -1 validated p.I65 0.001 112 0% 105 34.3% 1 100% - - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202352463 202352463 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152525.5 -1 validated p.R582* 0.000 326 0% 206 35.4% 0 - - - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202357904 202357904 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000439140 -1 known p.N1054H 0.000 55 0% 59 33.9% 0 - possibly_damaging(0.496) - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202358438 202358438 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000439140 -1 known p.E876* 0.000 120 0% 103 33% 0 - - - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202358824 202358824 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000439140 -1 known p.T747I 0.017 95 0% 72 29.2% 0 - benign(0) - - NULL TMEM237 65062 genome.wustl.edu 37 2 202501491 202501491 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001044385.1 -1 validated p.K85T 1.000 99 0% 153 36.6% 17 58.8% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL MPP4 58538 genome.wustl.edu 37 2 202509940 202509940 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033066.2 -1 reviewed p.S636F 0.660 42 0% 76 30.3% 2 50% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL MPP4 58538 genome.wustl.edu 37 2 202514862 202514862 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033066.2 -1 reviewed p.E470K 1.000 182 0% 231 31.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases ALS2 57679 genome.wustl.edu 37 2 202622163 202622163 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020919.3 -1 reviewed p.G478D 0.996 287 0% 175 34.3% 4 25% benign(0.308) deleterious(0.02) deleterious(0.479) NULL CDK15 65061 genome.wustl.edu 37 2 202698648 202698648 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139158.1 +1 provisional p.Q177H 1.000 185 0% 119 31.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FZD7 8324 genome.wustl.edu 37 2 202900783 202900783 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003507.1 +1 reviewed p.I471 0.999 37 0% 50 32% 18 50% - - - HMMPfam_Frizzled NOP58 51602 genome.wustl.edu 37 2 203157506 203157506 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015934.3 +1 provisional p.E263* 1.000 162 0% 157 35.7% 34 29.4% - - - HMMPfam_Nop,superfamily_SSF89124 NOP58 51602 genome.wustl.edu 37 2 203160419 203160419 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015934.3 +1 provisional p.K310 1.000 122 0% 113 25.7% 32 62.5% - - - HMMPfam_Nop,superfamily_SSF89124 ALS2CR8 79800 genome.wustl.edu 37 2 203834657 203834657 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001104586.1 +1 validated p.K323N 1.000 127 0% 77 41.6% 1 100% probably_damaging(0.971) tolerated(0.1) deleterious(0.700) NULL ALS2CR8 79800 genome.wustl.edu 37 2 203847107 203847107 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001104586.1 +1 validated p.L668M 1.000 137 0% 78 11.5% 0 - possibly_damaging(0.866) deleterious(0) deleterious(0.780) NULL NBEAL1 65065 genome.wustl.edu 37 2 204073435 204073435 + Missense_Mutation SNP G G A rs182855092 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114132.1 +1 validated p.G2499S 0.456 123 0% 266 29.3% 4 25% probably_damaging(0.999) tolerated(0.23) deleterious(0.532) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 NBEAL1 65065 genome.wustl.edu 37 2 204075790 204075790 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114132.1 +1 validated p.G2603D 1.000 100 0% 134 35.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like ABI2 10152 genome.wustl.edu 37 2 204267324 204267324 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005759.4 +1 validated p.M286I 1.000 129 0% 105 32.4% 81 45.6% - - - NULL ICOS 29851 genome.wustl.edu 37 2 204801565 204801565 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012092.3 +1 reviewed p.L10I 0.996 268 0% 154 27.9% 0 - possibly_damaging(0.567) tolerated(0.17) neutral(0.253) NULL PARD3B 117583 genome.wustl.edu 37 2 206041173 206041173 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152526.4 +1 validated p.P537H 0.002 109 0% 74 32.4% 6 66.6% benign(0.186) tolerated(0.36) neutral(0.038) NULL NRP2 8828 genome.wustl.edu 37 2 206617599 206617599 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201266.1 +1 reviewed p.F648 0.990 78 0% 80 33.8% 15 33.3% - - - HMMPfam_MAM,HMMSmart_SM00137 NRP2 8828 genome.wustl.edu 37 2 206630258 206630258 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201266.1 +1 reviewed p.R790 1.000 225 0% 347 36.3% 29 31% - - - HMMPfam_MAM,HMMSmart_SM00137 NRP2 8828 genome.wustl.edu 37 2 206657000 206657000 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201266.1 +1 reviewed p.E828* 1.000 304 0% 263 33.1% 12 33.3% - - - NULL NDUFS1 4719 genome.wustl.edu 37 2 207017232 207017232 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005006.5 -1 reviewed p.R22* 0.990 65 0% 65 29.2% 23 30.4% - - - NULL GPR1 2825 genome.wustl.edu 37 2 207041089 207041089 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098199.1 -1 validated p.L295F 1.000 102 0% 91 31.9% 0 - benign(0.009) tolerated(0.22) neutral(0.043) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZDBF2 57683 genome.wustl.edu 37 2 207169586 207169586 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020923.1 +1 validated p.E112K 0.000 142 0% 67 37.3% 0 - benign(0.108) tolerated(0.63) neutral(0.012) NULL ZDBF2 57683 genome.wustl.edu 37 2 207169693 207169693 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020923.1 +1 validated p.Q147 0.006 132 0% 66 37.9% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207173411 207173411 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020923.1 +1 validated p.E1387* 0.020 66 0% 24 29.2% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207173930 207173930 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020923.1 +1 validated p.I1560V 0.000 65 0% 29 20.7% 0 - benign(0.061) tolerated(0.96) neutral(0.004) NULL ZDBF2 57683 genome.wustl.edu 37 2 207174862 207174862 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020923.1 +1 validated p.S1870 0.000 93 1.1% 53 39.6% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207175879 207175879 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020923.1 +1 validated p.E2209D 0.868 61 0% 40 47.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ADAM23 8745 genome.wustl.edu 37 2 207424793 207424793 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003812.2 +1 reviewed p.K374E 1.000 73 0% 49 38.8% 1 100% probably_damaging(1) tolerated(0.15) deleterious(0.741) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM23 8745 genome.wustl.edu 37 2 207426962 207426962 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003812.2 +1 reviewed p.S430 0.825 81 0% 74 27% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM23 8745 genome.wustl.edu 37 2 207429760 207429760 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003812.2 +1 reviewed p.E454D 0.987 353 0% 268 23.5% 0 - benign(0.001) tolerated(1) - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" DYTN 391475 genome.wustl.edu 37 2 207527721 207527721 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001093730.1 -1 provisional p.G513 0.000 313 0% 203 10.8% 0 - - - - NULL MDH1B 130752 genome.wustl.edu 37 2 207603231 207603231 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039845.1 -1 validated p.F511L 0.094 225 0% 85 30.6% 3 66.6% benign(0.001) - - NULL MDH1B 130752 genome.wustl.edu 37 2 207625679 207625679 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039845.1 -1 validated p.K27N 1.000 195 0% 134 11.9% 0 - benign(0.069) tolerated(0.42) neutral(0.018) NULL CPO 130749 genome.wustl.edu 37 2 207833952 207833952 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173077.2 +1 validated p.S306* 0.994 208 0% 89 30.3% 1 100% - - - HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 CRYGB 1419 genome.wustl.edu 37 2 209007490 209007490 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005210.3 -1 validated p.L134I 0.451 69 0% 48 25% 0 - benign(0.213) tolerated(0.08) neutral(0.321) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like PIKFYVE 200576 genome.wustl.edu 37 2 209190723 209190723 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015040.3 +1 reviewed p.R1063Q 0.990 89 1.1% 33 15.2% 5 0% possibly_damaging(0.902) tolerated(0.3) neutral(0.386) NULL PTH2R 5746 genome.wustl.edu 37 2 209302497 209302497 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005048.2 +1 reviewed p.R101Q 1.000 127 0% 80 20% 12 58.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HRM,HMMSmart_HormR,superfamily_SSF111418 MAP2 4133 genome.wustl.edu 37 2 210559484 210559484 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002374.3 +1 reviewed p.L864I 0.972 55 0% 19 21.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210559555 210559555 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002374.3 +1 reviewed p.E887D 1.000 73 1.4% 27 48.1% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210560570 210560570 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002374.3 +1 reviewed p.V1226I 0.000 116 0% 43 18.6% 0 - benign(0.151) tolerated(0.23) neutral(0.055) HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210561748 210561748 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002374.3 +1 reviewed p.L1499F 1.000 104 0% 62 30.6% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210570310 210570310 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002374.3 +1 reviewed p.V1531L 0.577 91 0% 47 31.9% 2 0% benign(0.104) tolerated(0.07) neutral(0.327) NULL MAP2 4133 genome.wustl.edu 37 2 210574734 210574734 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002374.3 +1 reviewed p.S1610Y 1.000 94 0% 55 14.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MAP2 4133 genome.wustl.edu 37 2 210574837 210574837 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002374.3 +1 reviewed p.V1644 0.457 88 0% 73 35.6% 0 - - - - NULL UNC80 285175 genome.wustl.edu 37 2 210683818 210683818 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032504.1 +1 validated p.L599F 1.000 96 0% 56 32.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL UNC80 285175 genome.wustl.edu 37 2 210685221 210685221 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032504.1 +1 validated p.Q717K 1.000 114 0% 132 26.5% 0 - possibly_damaging(0.662) deleterious(0) deleterious(0.678) NULL UNC80 285175 genome.wustl.edu 37 2 210698823 210698823 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032504.1 +1 validated p.A958V 1.000 128 0% 80 31.2% 0 - probably_damaging(0.98) tolerated(0.27) neutral(0.458) NULL UNC80 285175 genome.wustl.edu 37 2 210777331 210777331 + Silent SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032504.1 +1 validated p.V1544 1.000 73 0% 55 20% 0 - - - - NULL UNC80 285175 genome.wustl.edu 37 2 210818931 210818931 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032504.1 +1 validated p.A2399V 1.000 101 0% 70 42.9% 0 - probably_damaging(0.99) tolerated(0.15) deleterious(0.682) NULL UNC80 285175 genome.wustl.edu 37 2 210858961 210858961 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032504.1 +1 validated p.A3161 0.998 29 0% 23 26.1% 0 - - - - NULL MYL1 4632 genome.wustl.edu 37 2 211163270 211163270 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_079420.2 -1 reviewed p.L60I 1.000 87 0% 66 36.4% 0 - benign(0.005) tolerated(0.15) neutral(0.241) HMMSmart_SM00054,superfamily_EF-hand CPS1 1373 genome.wustl.edu 37 2 211460265 211460265 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122633.1 +1 reviewed p.E446* 1.000 201 0% 82 30.5% 0 - - - - HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp domain CPS1 1373 genome.wustl.edu 37 2 211469886 211469886 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122633.1 +1 reviewed p.E639* 1.000 174 0% 78 30.8% 0 - - - - HMMPfam_CPSase_L_D2,superfamily_Glutathione synthetase ATP-binding domain-like SPAG16 79582 genome.wustl.edu 37 2 214161993 214161993 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024532.3 +1 validated p.D64G 1.000 116 0% 87 31% 25 64% probably_damaging(0.983) deleterious(0.03) deleterious(0.793) superfamily_WD40 repeat-like SPAG16 79582 genome.wustl.edu 37 2 214174825 214174825 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024532.3 +1 validated p.V108L 1.000 209 0% 90 33.3% 18 44.4% benign(0.015) tolerated(0.24) neutral(0.038) superfamily_WD40 repeat-like ABCA12 26154 genome.wustl.edu 37 2 215866294 215866294 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173076.2 -1 reviewed p.E951K 1.000 230 0% 119 30.3% 0 - benign(0.002) tolerated(0.71) neutral(0.002) NULL ABCA12 26154 genome.wustl.edu 37 2 215928927 215928927 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173076.2 -1 reviewed p.R60Q 1.000 190 0% 50 56% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL FN1 2335 genome.wustl.edu 37 2 216232745 216232745 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_212482.1 -1 reviewed p.E2287K 0.828 75 0% 73 27.4% 421 1.4% benign(0.026) tolerated(0.09) neutral(0.297) superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216269379 216269379 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_212482.1 -1 reviewed e20-1 1.000 57 0% 29 20.7% 0 - - - - - FN1 2335 genome.wustl.edu 37 2 216290005 216290005 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_212482.1 -1 reviewed p.S283Y 0.779 59 0% 33 30.3% 75 0% possibly_damaging(0.768) deleterious(0) deleterious(0.730) NULL PECR 55825 genome.wustl.edu 37 2 216930193 216930193 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018441.5 -1 validated p.N89T 0.935 76 0% 38 18.4% 5 40% benign(0.001) tolerated(0.55) neutral(0.007) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains RUFY4 285180 genome.wustl.edu 37 2 218938577 218938577 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198483.3 +1 validated p.R17I 0.903 97 0% 118 30.5% 5 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL RUFY4 285180 genome.wustl.edu 37 2 218954047 218954047 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198483.3 +1 validated p.S352R 0.978 101 0% 78 34.6% 3 33.3% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger CXCR2 3579 genome.wustl.edu 37 2 218999758 218999758 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001557.3 +1 reviewed p.V78 0.000 155 0% 126 31.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CXCR2 3579 genome.wustl.edu 37 2 219000509 219000509 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001557.3 +1 reviewed p.L329I 0.998 85 0% 82 28% 0 - possibly_damaging(0.821) deleterious(0.03) deleterious(0.675) superfamily_Family A G protein-coupled receptor-like TMBIM1 64114 genome.wustl.edu 37 2 219143252 219143252 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022152.4 -1 validated p.C153* 1.000 72 0% 135 28.9% 55 0% - - - HMMPfam_UPF0005 VIL1 7429 genome.wustl.edu 37 2 219294100 219294100 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007127.2 +1 reviewed p.P220 0.005 43 2.3% 40 30% 1 100% - - - HMMSmart_GEL,HMMPfam_Gelsolin VIL1 7429 genome.wustl.edu 37 2 219294633 219294633 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007127.2 +1 reviewed p.N304T 0.054 81 0% 100 24% 1 0% benign(0) tolerated(0.78) neutral(0.001) HMMSmart_GEL,HMMPfam_Gelsolin,superfamily_SSF82754 VIL1 7429 genome.wustl.edu 37 2 219313964 219313964 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007127.2 +1 reviewed p.D797Y 1.000 107 0% 58 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VHP,HMMSmart_VHP,superfamily_VHP USP37 57695 genome.wustl.edu 37 2 219410944 219410944 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020935.2 -1 validated p.S227L 1.000 213 0% 171 19.3% 3 0% benign(0.3) tolerated(0.15) neutral(0.334) NULL PLCD4 84812 genome.wustl.edu 37 2 219501065 219501065 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032726.2 +1 provisional p.R711Q 1.000 226 0% 231 40.7% 8 37.5% benign(0.315) tolerated(0.19) neutral(0.148) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) BCS1L 617 genome.wustl.edu 37 2 219526239 219526239 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079866.1 +1 reviewed p.R144Q 1.000 130 0% 171 28.1% 40 40% possibly_damaging(0.843) deleterious(0.05) deleterious(0.668) HMMPfam_BCS1_N,superfamily_P-loop containing nucleoside triphosphate hydrolases TTLL4 9654 genome.wustl.edu 37 2 219604833 219604833 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014640.4 +1 validated p.E514* 0.998 159 0% 130 36.2% 3 66.6% - - - NULL FEV 54738 genome.wustl.edu 37 2 219846739 219846739 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017521.2 -1 reviewed p.A123T 1.000 26 0% 55 40% 0 - possibly_damaging(0.494) deleterious(0.01) deleterious(0.570) HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785 FEV 54738 genome.wustl.edu 37 2 219846968 219846968 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017521.2 -1 reviewed p.Q46H 1.000 15 0% 34 32.4% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785 CCDC108 255101 genome.wustl.edu 37 2 219878261 219878261 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194302.2 -1 provisional p.S1276P 1.000 52 0% 46 28.3% 0 - probably_damaging(0.997) tolerated(0.13) deleterious(0.719) NULL NHEJ1 79840 genome.wustl.edu 37 2 220022258 220022258 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024782.2 -1 reviewed p.R109Q 1.000 78 0% 135 32.6% 19 21% benign(0.253) tolerated(0.19) neutral(0.075) HMMPfam_XLF DES 1674 genome.wustl.edu 37 2 220286102 220286102 + Missense_Mutation SNP G G A rs61368398 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001927.3 +1 reviewed p.R355Q 1.000 35 0% 67 28.4% 0 - possibly_damaging(0.522) tolerated(0.17) neutral(0.235) HMMPfam_Filament SPEG 10290 genome.wustl.edu 37 2 220332072 220332072 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005876.4 +1 validated p.D1020N 1.000 37 0% 80 28.7% 0 - possibly_damaging(0.858) deleterious(0) deleterious(0.776) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SPEG 10290 genome.wustl.edu 37 2 220337798 220337798 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005876.4 +1 validated p.P1376H 0.995 28 0% 38 23.7% 0 - probably_damaging(0.999) tolerated(0.17) deleterious(0.549) superfamily_Fibronectin type III SPEG 10290 genome.wustl.edu 37 2 220342136 220342136 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005876.4 +1 validated p.V1566 0.525 34 0% 68 36.8% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CHPF 79586 genome.wustl.edu 37 2 220405063 220405063 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024536.5 -1 validated p.P457L 0.999 29 0% 58 34.5% 177 50.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CHGN OBSL1 23363 genome.wustl.edu 37 2 220420944 220420944 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015311.2 -1 reviewed p.E1469D 0.995 24 0% 63 34.9% 49 46.9% possibly_damaging(0.712) tolerated(0.2) neutral(0.306) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 OBSL1 23363 genome.wustl.edu 37 2 220423079 220423079 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015311.2 -1 reviewed p.S1110Y 0.957 15 0% 24 33.3% 27 55.5% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 FARSB 10056 genome.wustl.edu 37 2 223507698 223507698 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005687.3 -1 reviewed p.K47N 0.999 124 0% 68 27.9% 19 57.8% benign(0.038) tolerated(0.14) neutral(0.252) superfamily_Putative DNA-binding domain SERPINE2 5270 genome.wustl.edu 37 2 224856584 224856584 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136530.1 -1 validated p.F219 0.053 108 0% 45 31.1% 169 31.9% - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin DOCK10 55619 genome.wustl.edu 37 2 225670000 225670000 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014689.2 -1 validated p.R1325Q 1.000 149 0% 47 31.9% 2 0% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL DOCK10 55619 genome.wustl.edu 37 2 225739030 225739030 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014689.2 -1 validated p.R352* 1.000 123 0% 83 27.7% 3 0% - - - NULL DOCK10 55619 genome.wustl.edu 37 2 225739453 225739453 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014689.2 -1 validated p.S316Y 0.614 184 0% 81 37% 2 0% benign(0.159) deleterious(0.05) neutral(0.359) NULL IRS1 3667 genome.wustl.edu 37 2 227662704 227662704 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005544.2 -1 reviewed p.E251K 1.000 45 0% 88 29.5% 28 32.1% possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 COL4A3 1285 genome.wustl.edu 37 2 228149011 228149011 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000091.3 +1 reviewed p.P944H 0.196 92 0% 68 14.7% 0 - unknown(0) tolerated(0.3) - NULL AGFG1 3267 genome.wustl.edu 37 2 228401659 228401659 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135187.1 +1 reviewed p.S467F 1.000 160 0% 82 35.4% 88 39.7% benign(0.229) deleterious(0.04) neutral(0.372) NULL SLC19A3 80704 genome.wustl.edu 37 2 228563629 228563629 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025243.3 -1 reviewed p.D268Y 0.996 157 0% 67 40.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Folate_carrier,superfamily_MFS_gen_substrate_transporter SLC19A3 80704 genome.wustl.edu 37 2 228563888 228563888 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025243.3 -1 reviewed p.S181 0.000 140 0% 86 33.7% 0 - - - - HMMPfam_Folate_carrier,superfamily_MFS_gen_substrate_transporter SPHKAP 80309 genome.wustl.edu 37 2 228884567 228884567 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142644.1 -1 validated p.S335P 0.005 244 0% 110 32.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SPHKAP 80309 genome.wustl.edu 37 2 228973549 228973549 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142644.1 -1 validated p.S82Y 1.000 47 0% 32 40.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SPHKAP 80309 genome.wustl.edu 37 2 228973649 228973649 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142644.1 -1 validated p.R49C 0.987 58 0% 33 39.4% 0 - benign(0.078) tolerated(0.22) neutral(0.048) NULL DNER 92737 genome.wustl.edu 37 2 230253035 230253035 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139072.3 -1 validated p.N601D 1.000 94 0% 18 33.3% 0 - possibly_damaging(0.822) tolerated(0.18) neutral(0.367) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_CA,superfamily_SSF57196 TRIP12 9320 genome.wustl.edu 37 2 230656767 230656767 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004238.1 -1 provisional p.L1335 1.000 206 0% 105 25.7% 77 50.6% - - - NULL TRIP12 9320 genome.wustl.edu 37 2 230662423 230662423 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004238.1 -1 provisional p.E1128K 0.996 197 0% 174 36.2% 48 41.6% benign(0.087) tolerated(0.96) neutral(0.006) NULL SLC16A14 151473 genome.wustl.edu 37 2 230902145 230902145 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152527.4 -1 validated p.R495Q 0.251 129 0% 83 27.7% 4 0% benign(0) tolerated(0.55) neutral(0.007) NULL SLC16A14 151473 genome.wustl.edu 37 2 230910875 230910875 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152527.4 -1 validated p.A323T 1.000 60 0% 59 39% 5 20% probably_damaging(0.958) tolerated(0.52) neutral(0.410) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC16A14 151473 genome.wustl.edu 37 2 230911017 230911017 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152527.4 -1 validated p.K275N 0.000 87 0% 66 19.7% 1 0% benign(0.005) tolerated(0.66) neutral(0.003) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SP110 3431 genome.wustl.edu 37 2 231036818 231036818 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080424.2 -1 reviewed p.K593N 0.004 100 0% 63 33.3% 1 0% possibly_damaging(0.467) deleterious(0) deleterious(0.598) superfamily_Bromodomain SP140L 93349 genome.wustl.edu 37 2 231222653 231222653 + Missense_Mutation SNP C C T rs189762003 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138402.4 +1 provisional p.R81W 0.011 103 0% 70 42.9% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sp100 SP140L 93349 genome.wustl.edu 37 2 231236364 231236364 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138402.4 +1 provisional p.R212I 0.189 157 0% 76 39.5% 5 60% unknown(0) - - NULL SP100 6672 genome.wustl.edu 37 2 231406724 231406724 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080391.1 +1 validated p.F841V 0.927 111 0% 54 11.1% 3 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain ENSG00000199791 0 genome.wustl.edu 37 2 231451846 231451846 + RNA SNP C C T rs192435111 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000362921 +1 novel NULL 0.000 16 0% 15 26.7% 0 - - - - - ITM2C 81618 genome.wustl.edu 37 2 231738196 231738196 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030926.4 +1 validated p.S62L 0.989 42 0% 92 38% 862 35.1% benign(0.271) tolerated(0.15) neutral(0.270) NULL PSMD1 5707 genome.wustl.edu 37 2 231948461 231948461 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002807.2 +1 reviewed p.S569Y 1.000 154 0% 77 29.9% 135 45.1% possibly_damaging(0.796) tolerated(0.09) deleterious(0.595) superfamily_ARM repeat HTR2B 3357 genome.wustl.edu 37 2 231973630 231973630 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000867.4 -1 validated p.L349 0.065 143 0% 58 36.2% 3 33.3% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PSMD1 5707 genome.wustl.edu 37 2 232035293 232035293 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002807.2 +1 reviewed p.G910D 1.000 119 0% 57 17.5% 172 19.1% benign(0.055) deleterious(0.02) neutral(0.387) NULL ARMC9 80210 genome.wustl.edu 37 2 232100066 232100066 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025139.3 +1 validated p.S251F 1.000 131 0% 78 32.1% 11 27.2% probably_damaging(0.997) tolerated(0.12) deleterious(0.727) superfamily_ARM-type_fold LINC00471 151477 genome.wustl.edu 37 2 232374014 232374014 + RNA SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_024079.1 -1 predicted NULL 0.000 237 0.4% 289 30.4% 1 100% - - - - C2orf57 165100 genome.wustl.edu 37 2 232458412 232458412 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152614.2 +1 validated p.H250 0.000 55 0% 102 32.4% 0 - - - - NULL ALPI 248 genome.wustl.edu 37 2 233323702 233323702 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001631.3 +1 reviewed p.A478V 1.000 16 0% 47 21.3% 0 - probably_damaging(1) tolerated(0.38) deleterious(0.517) HMMPfam_Alk_phosphatase,HMMSmart_SM00098,superfamily_Alkaline phosphatase-like TIGD1 200765 genome.wustl.edu 37 2 233413850 233413850 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145702.1 -1 validated p.K248T 0.991 33 0% 85 35.3% 9 66.6% unknown(0) tolerated(0.13) - HMMPfam_DDE TIGD1 200765 genome.wustl.edu 37 2 233414380 233414380 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145702.1 -1 validated p.M71I 0.991 36 0% 113 38.1% 9 44.4% unknown(0) tolerated(0.5) - NULL GIGYF2 26058 genome.wustl.edu 37 2 233660867 233660867 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001103147.1 +1 reviewed p.S546 0.000 170 0.6% 75 30.7% 6 0% - - - NULL GIGYF2 26058 genome.wustl.edu 37 2 233681677 233681677 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001103147.1 +1 reviewed p.L790I 1.000 117 0% 82 39% 19 26.3% unknown(0) deleterious(0.03) - NULL GIGYF2 26058 genome.wustl.edu 37 2 233712090 233712090 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001103147.1 +1 reviewed p.E1186* 1.000 151 0% 183 30.1% 13 30.7% - - - NULL NGEF 25791 genome.wustl.edu 37 2 233839357 233839357 + Missense_Mutation SNP C C T rs142598950 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019850.2 -1 validated p.E82K 0.000 321 0% 262 34.4% 0 - benign(0.007) deleterious(0) neutral(0.445) NULL SAG 6295 genome.wustl.edu 37 2 234243644 234243644 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000541.4 +1 reviewed p.T281 0.002 74 0% 84 31% 0 - - - - HMMPfam_Arrestin_C,superfamily_Ig_E-set SAG 6295 genome.wustl.edu 37 2 234255459 234255459 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000541.4 +1 reviewed p.Q373H 0.859 203 0% 226 32.3% 0 - possibly_damaging(0.848) tolerated(0.11) deleterious(0.597) superfamily_Ig_E-set SAG 6295 genome.wustl.edu 37 2 234255476 234255476 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000541.4 +1 reviewed p.F379C 1.000 195 0% 236 30.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ig_E-set USP40 55230 genome.wustl.edu 37 2 234394246 234394246 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018218.2 -1 validated p.K1156N 1.000 99 0% 119 33.6% 7 42.8% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL USP40 55230 genome.wustl.edu 37 2 234399842 234399842 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018218.2 -1 validated p.D1006Y 0.895 50 0% 34 41.2% 6 33.3% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL USP40 55230 genome.wustl.edu 37 2 234438155 234438155 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018218.2 -1 validated p.R503Q 0.307 197 0% 69 36.2% 2 100% benign(0.026) tolerated(0.24) neutral(0.038) superfamily_Cysteine proteinases USP40 55230 genome.wustl.edu 37 2 234463172 234463172 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018218.2 -1 validated p.E195K 1.000 140 0% 57 26.3% 3 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_UCH,superfamily_Cysteine proteinases UGT1A10 54575 genome.wustl.edu 37 2 234545316 234545316 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019075.2 +1 reviewed p.L50I 0.057 96 0% 45 24.4% 0 - possibly_damaging(0.675) tolerated(0.16) neutral(0.299) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A7 54577 genome.wustl.edu 37 2 234590938 234590938 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019077.2 +1 reviewed p.L119V 0.000 275 0% 85 10.6% 0 - benign(0) tolerated(0.32) neutral(0.024) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase HJURP 55355 genome.wustl.edu 37 2 234749577 234749577 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018410.3 -1 validated p.R617* 0.000 133 0% 118 36.4% 18 27.7% - - - NULL TRPM8 79054 genome.wustl.edu 37 2 234839375 234839375 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024080.4 +1 validated p.D60E 0.784 142 0% 128 31.2% 0 - possibly_damaging(0.929) deleterious(0.01) deleterious(0.782) NULL SPP2 6694 genome.wustl.edu 37 2 234975909 234975909 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006944.2 +1 reviewed p.R181W 0.000 198 0% 131 12.2% 0 - benign(0.008) deleterious(0.01) neutral(0.406) HMMPfam_Spp-24 SH3BP4 23677 genome.wustl.edu 37 2 235951000 235951000 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014521.2 +1 reviewed p.F529 0.370 81 0% 110 30% 55 40% - - - NULL IQCA1 79781 genome.wustl.edu 37 2 237396720 237396720 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024726.3 -1 provisional p.E191* 0.743 120 0% 224 27.7% 0 - - - - NULL IQCA1 79781 genome.wustl.edu 37 2 237405979 237405979 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024726.3 -1 provisional p.N55H 0.391 100 0% 171 42.1% 0 - benign(0.002) tolerated(0.16) neutral(0.059) NULL COPS8 10920 genome.wustl.edu 37 2 237998635 237998635 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006710.4 +1 reviewed p.R110I 1.000 101 0% 145 24.8% 79 15.1% benign(0) deleterious(0.01) neutral(0.406) HMMPfam_PCI_Csn8 COL6A3 1293 genome.wustl.edu 37 2 238303430 238303430 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004369.3 -1 reviewed p.V170G 0.144 90 0% 53 30.2% 2 0% unknown(0) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like RBM44 375316 genome.wustl.edu 37 2 238725761 238725761 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080504.2 +1 validated p.E68* 0.002 57 0% 20 25% 1 0% - - - NULL RBM44 375316 genome.wustl.edu 37 2 238738021 238738021 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080504.2 +1 validated p.S922L 0.000 107 0% 50 24% 0 - benign(0) tolerated(0.77) neutral(0.001) NULL SCLY 51540 genome.wustl.edu 37 2 238978070 238978070 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016510.4 +1 validated p.D146N 1.000 72 0% 111 42.3% 16 50% possibly_damaging(0.786) tolerated(0.16) neutral(0.354) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases SCLY 51540 genome.wustl.edu 37 2 239003069 239003069 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000437134 +1 known p.R154W 0.947 71 0% 138 36.2% 8 50% - - - superfamily_PLP-dependent transferases ESPNL 339768 genome.wustl.edu 37 2 239039907 239039907 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194312.2 +1 validated p.S851N 0.998 12 0% 21 42.9% 0 - benign(0) tolerated(0.74) neutral(0.002) NULL ESPNL 339768 genome.wustl.edu 37 2 239040133 239040133 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194312.2 +1 validated p.F926L 1.000 10 0% 19 21.1% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL PER2 8864 genome.wustl.edu 37 2 239186400 239186400 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022817.2 -1 reviewed p.D60N 0.001 78 0% 94 30.9% 6 50% possibly_damaging(0.909) tolerated(0.28) neutral(0.393) NULL GPC1 2817 genome.wustl.edu 37 2 241401804 241401804 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000425056 +1 known p.S170Y 0.917 11 0% 21 38.1% 55 36.3% - - - HMMPfam_Glypican KIF1A 547 genome.wustl.edu 37 2 241660418 241660418 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004321.4 -1 reviewed p.S1493L 0.996 43 0% 52 26.9% 85 40% benign(0.006) tolerated(0.07) neutral(0.319) NULL SNED1 25992 genome.wustl.edu 37 2 242021765 242021765 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080437.1 +1 provisional p.G1369 0.355 166 0% 232 25.9% 2 0% - - - NULL PASK 23178 genome.wustl.edu 37 2 242066117 242066117 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015148.2 -1 validated p.S738L 0.025 33 0% 60 35% 13 7.6% probably_damaging(0.963) deleterious(0) deleterious(0.850) NULL HDLBP 3069 genome.wustl.edu 37 2 242169073 242169073 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005336.3 -1 validated p.F1250L 0.966 169 0% 244 31.6% 333 39.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CHL1 10752 genome.wustl.edu 37 3 370022 370022 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006614.2 +1 reviewed p.E124* 1.000 101 0% 59 39% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin CHL1 10752 genome.wustl.edu 37 3 405064 405064 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006614.2 +1 reviewed p.R528I 0.997 116 0% 71 28.2% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_SM00409 CNTN6 27255 genome.wustl.edu 37 3 1415393 1415393 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014461.2 +1 reviewed p.F631C 1.000 64 0% 30 23.3% 0 - possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CNTN6 27255 genome.wustl.edu 37 3 1444071 1444071 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014461.2 +1 reviewed p.L963M 0.313 133 0% 106 37.7% 1 0% possibly_damaging(0.903) tolerated(0.06) deleterious(0.680) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CNTN6 27255 genome.wustl.edu 37 3 1445027 1445027 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014461.2 +1 reviewed p.F1004L 0.000 211 0% 115 32.2% 0 - benign(0) tolerated(0.74) neutral(0.002) NULL CNTN4 152330 genome.wustl.edu 37 3 2942427 2942427 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175607.1 +1 reviewed p.V333 0.812 105 0% 105 37.1% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CNTN4 152330 genome.wustl.edu 37 3 3081894 3081894 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175607.1 +1 reviewed p.V779 1.000 88 0% 38 28.9% 3 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TRNT1 51095 genome.wustl.edu 37 3 3188258 3188258 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182916.2 +1 validated p.V251 0.109 229 0% 243 23.5% 8 25% - - - superfamily_Poly A polymerase C-terminal region-like TRNT1 51095 genome.wustl.edu 37 3 3189373 3189373 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182916.2 +1 validated p.D348Y 1.000 61 0% 57 21.1% 10 40% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Poly A polymerase C-terminal region-like TRNT1 51095 genome.wustl.edu 37 3 3189768 3189768 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182916.2 +1 validated p.R412Q 1.000 93 0% 73 34.2% 15 40% possibly_damaging(0.925) tolerated(0.2) neutral(0.422) superfamily_Poly A polymerase C-terminal region-like ITPR1 3708 genome.wustl.edu 37 3 4738861 4738861 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099952.2 +1 reviewed p.H1429N 1.000 119 0% 86 32.6% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITPR1 3708 genome.wustl.edu 37 3 4821245 4821245 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099952.2 +1 reviewed p.S2053 0.043 67 0% 48 35.4% 4 50% - - - NULL EDEM1 9695 genome.wustl.edu 37 3 5246809 5246809 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014674.2 +1 validated p.A367V 1.000 105 0% 60 36.7% 14 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_47,superfamily_Seven-hairpin glycosidases EDEM1 9695 genome.wustl.edu 37 3 5255032 5255032 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014674.2 +1 validated p.K570T 0.983 87 0% 58 25.9% 21 23.8% benign(0.005) tolerated(0.32) neutral(0.024) HMMPfam_Glyco_hydro_47,superfamily_Seven-hairpin glycosidases GRM7 2917 genome.wustl.edu 37 3 6903489 6903489 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181874.2 +1 reviewed p.N138 1.000 55 0% 97 27.8% 1 0% - - - HMMPfam_ANF_receptor,superfamily_SSF53822 GRM7 2917 genome.wustl.edu 37 3 7620629 7620629 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181874.2 +1 reviewed p.R679Q 1.000 126 0% 92 34.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_3 CAV3 859 genome.wustl.edu 37 3 8787397 8787397 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001234.3 +1 reviewed p.I100 1.000 133 0% 127 31.5% 0 - - - - HMMPfam_Caveolin SRGAP3 9901 genome.wustl.edu 37 3 9166409 9166409 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014850.2 -1 validated p.K87R 1.000 52 0% 80 37.5% 11 36.3% benign(0.003) tolerated(0.74) neutral(0.002) HMMPfam_FCH,HMMSmart_SM00055 SRGAP3 9901 genome.wustl.edu 37 3 9166600 9166600 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014850.2 -1 validated p.E23D 1.000 36 0% 48 27.1% 8 50% benign(0.064) tolerated(0.21) neutral(0.048) HMMPfam_FCH,HMMSmart_SM00055 CPNE9 151835 genome.wustl.edu 37 3 9754694 9754694 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153635.2 +1 validated p.N194S 1.000 53 0% 39 41% 0 - benign(0.057) deleterious(0.01) neutral(0.409) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CPNE9 151835 genome.wustl.edu 37 3 9767648 9767648 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000273027 +1 known p.S151Y 1.000 133 0% 150 28% 0 - - - - HMMPfam_Copine,superfamily_vWA-like CIDEC 63924 genome.wustl.edu 37 3 9918827 9918827 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022094.2 -1 provisional p.P44T 1.000 25 0% 29 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CIDE-N,HMMSmart_SM00266,superfamily_CAD PB1 domains LOC401052 401052 genome.wustl.edu 37 3 10049178 10049178 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008737.1 -1 predicted p.S69 0.001 99 0% 175 29.7% 2 50% - - - NULL FANCD2 2177 genome.wustl.edu 37 3 10130579 10130579 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033084.3 +1 reviewed p.E1210* 1.000 179 0% 140 29.3% 23 8.6% - - - NULL GHRL 51738 genome.wustl.edu 37 3 10328418 10328418 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016362.3 -1 reviewed p.L102I 0.983 91 0% 44 11.4% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Motilin_assoc ATP2B2 491 genome.wustl.edu 37 3 10401729 10401729 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001331.2 -1 reviewed p.L580 1.000 41 0% 44 34.1% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M SLC6A11 6538 genome.wustl.edu 37 3 10861206 10861206 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014229.1 +1 provisional p.F105I 1.000 402 0% 593 34.4% 0 - possibly_damaging(0.522) tolerated(0.07) deleterious(0.495) HMMPfam_SNF SLC6A11 6538 genome.wustl.edu 37 3 10916759 10916759 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014229.1 +1 provisional p.L290 0.989 93 0% 59 30.5% 0 - - - - HMMPfam_SNF SLC6A1 6529 genome.wustl.edu 37 3 11072886 11072886 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003042.3 +1 validated p.L449 0.042 271 0% 244 29.1% 0 - - - - HMMPfam_SNF TAMM41 132001 genome.wustl.edu 37 3 11851045 11851045 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138807.2 -1 provisional p.E274* 1.000 232 0% 169 27.8% 7 42.8% - - - HMMPfam_Mmp37 TIMP4 7079 genome.wustl.edu 37 3 12198915 12198915 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003256.2 -1 reviewed p.K69N 1.000 266 0% 419 23.6% 1 0% benign(0.39) tolerated(0.08) neutral(0.425) HMMPfam_TIMP,HMMSmart_SM00206,superfamily_TIMP-like PPARG 5468 genome.wustl.edu 37 3 12393128 12393128 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015869.4 +1 reviewed p.E13* 0.934 141 0% 86 31.4% 0 - - - - NULL TSEN2 80746 genome.wustl.edu 37 3 12533656 12533656 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145392.1 +1 reviewed p.L71F 1.000 163 0% 157 21% 1 100% possibly_damaging(0.876) tolerated(0.18) neutral(0.397) NULL HDAC11 79885 genome.wustl.edu 37 3 13543419 13543419 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024827.3 +1 reviewed p.L180I 0.967 122 0% 155 34.8% 31 58% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Hist_deacetyl,superfamily_SSF52768 XPC 7508 genome.wustl.edu 37 3 14188850 14188850 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004628.4 -1 reviewed p.W848C 1.000 139 0% 146 21.2% 37 29.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL XPC 7508 genome.wustl.edu 37 3 14193883 14193883 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004628.4 -1 reviewed p.T689 0.271 147 0% 129 31% 43 25.5% unknown(0) deleterious(0.01) - HMMPfam_BHD_2 C3orf19 51244 genome.wustl.edu 37 3 14695972 14695972 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016474.4 +1 validated p.E28* 1.000 98 0% 36 25% 9 66.6% - - - NULL C3orf20 84077 genome.wustl.edu 37 3 14724266 14724266 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032137.4 +1 validated p.A16T 0.012 88 0% 80 35% 0 - possibly_damaging(0.788) deleterious(0) deleterious(0.740) NULL ZFYVE20 64145 genome.wustl.edu 37 3 15115481 15115481 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022340.2 -1 validated p.E721D 0.907 99 0% 79 19% 11 9% benign(0) deleterious(0) neutral(0.445) NULL CAPN7 23473 genome.wustl.edu 37 3 15259991 15259991 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014296.2 +1 reviewed p.T127 1.000 97 0% 72 25% 4 0% - - - HMMPfam_MIT,HMMSmart_MIT CAPN7 23473 genome.wustl.edu 37 3 15265040 15265040 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014296.2 +1 reviewed p.E233* 1.000 179 0% 81 29.6% 17 23.5% - - - HMMSmart_CysPc,superfamily_SSF54001 BTD 686 genome.wustl.edu 37 3 15686333 15686333 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000060.2 +1 reviewed p.D324Y 0.964 60 0% 34 14.7% 5 0% possibly_damaging(0.801) deleterious(0.02) deleterious(0.684) superfamily_Carbon-nitrogen hydrolase ANKRD28 23243 genome.wustl.edu 37 3 15727627 15727627 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015199.2 -1 provisional e20-1 1.000 192 0% 83 24.1% 2 100% - - - - ANKRD28 23243 genome.wustl.edu 37 3 15836736 15836736 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015199.2 -1 provisional p.N35K 1.000 106 0% 42 38.1% 3 100% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD28 23243 genome.wustl.edu 37 3 15836768 15836768 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015199.2 -1 provisional p.R25* 1.000 110 0% 41 29.3% 5 0% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SATB1 6304 genome.wustl.edu 37 3 18390812 18390812 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001131010.1 -1 validated p.V714 1.000 181 0.6% 225 12.9% 3 0% - - - superfamily_Homeodomain-like KCNH8 131096 genome.wustl.edu 37 3 19190284 19190284 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144633.2 +1 reviewed p.T25A 1.000 94 0% 217 29.5% 0 - probably_damaging(0.987) deleterious(0.04) deleterious(0.785) NULL KCNH8 131096 genome.wustl.edu 37 3 19295355 19295355 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144633.2 +1 reviewed p.E96* 1.000 90 0% 38 31.6% 0 - - - - HMMSmart_PAC,HMMPfam_PAS,superfamily_SSF55785 ZNF385D 79750 genome.wustl.edu 37 3 21465486 21465486 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024697.2 -1 validated p.N308T 1.000 218 0% 114 37.7% 7 28.5% probably_damaging(1) tolerated(0.62) deleterious(0.504) NULL TOP2B 7155 genome.wustl.edu 37 3 25640999 25640999 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001068.2 -1 reviewed p.K1541T 1.000 434 0% 153 33.3% 309 46.9% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_DTHCT TOP2B 7155 genome.wustl.edu 37 3 25660275 25660275 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001068.2 -1 reviewed p.F1038L 1.000 107 0% 69 26.1% 100 39% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_topoisoIV,HMMSmart_TOP4c,superfamily_Topo_IIA_cen TOP2B 7155 genome.wustl.edu 37 3 25665815 25665815 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001068.2 -1 reviewed p.S818N 1.000 140 0% 80 28.7% 178 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DNA_topoisoIV,HMMSmart_TOP4c,superfamily_Topo_IIA_cen TOP2B 7155 genome.wustl.edu 37 3 25679679 25679679 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001068.2 -1 reviewed p.D168G 1.000 166 0% 110 33.6% 36 47.2% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) HMMSmart_TOP2c,HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase TOP2B 7155 genome.wustl.edu 37 3 25683839 25683839 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001068.2 -1 reviewed p.M118I 1.000 95 0% 89 30.3% 57 31.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_TOP2c,HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase OXSM 54995 genome.wustl.edu 37 3 25836009 25836009 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026937.1 +1 reviewed NULL 0.000 23 0% 20 45% 1 0% - - - - NEK10 152110 genome.wustl.edu 37 3 27337131 27337131 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199347.2 -1 validated p.K427N 1.000 411 0% 160 29.4% 0 - benign(0.014) tolerated(0.49) neutral(0.011) superfamily_ARM repeat SLC4A7 9497 genome.wustl.edu 37 3 27460063 27460063 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003615.3 -1 validated p.E516* 1.000 149 0% 62 29% 6 0% - - - HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A7 9497 genome.wustl.edu 37 3 27475554 27475554 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003615.3 -1 validated p.E202K 1.000 203 0% 109 31.2% 1 0% benign(0.028) tolerated(0.32) neutral(0.026) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein AZI2 64343 genome.wustl.edu 37 3 28381915 28381915 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022461.3 -1 validated p.R65I 1.000 154 0% 94 34% 9 55.5% possibly_damaging(0.906) deleterious(0) deleterious(0.804) NULL TGFBR2 7048 genome.wustl.edu 37 3 30713506 30713506 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024847.2 +1 reviewed p.K302N 1.000 75 0% 76 31.6% 23 26% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase STT3B 201595 genome.wustl.edu 37 3 31674463 31674463 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178862.1 +1 provisional p.R742C 1.000 104 0% 57 22.8% 157 43.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OSBPL10 114884 genome.wustl.edu 37 3 31705605 31705605 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017784.4 -1 reviewed p.R739H 0.002 115 0% 85 27.1% 22 40.9% benign(0.009) tolerated(0.12) neutral(0.261) HMMPfam_Oxysterol_BP ZNF860 344787 genome.wustl.edu 37 3 32030869 32030869 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137674.1 +1 provisional p.F100V 0.236 117 0% 120 15% 3 0% possibly_damaging(0.864) tolerated(0.32) neutral(0.359) NULL CMTM6 54918 genome.wustl.edu 37 3 32533245 32533245 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017801.2 -1 reviewed p.T91I 0.995 103 0% 87 36.8% 28 46.4% probably_damaging(0.999) tolerated(0.35) deleterious(0.511) HMMPfam_MARVEL FBXL2 25827 genome.wustl.edu 37 3 33400458 33400458 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012157.3 +1 reviewed e3-1 1.000 140 0% 77 31.2% 0 - - - - - PDCD6IP 10015 genome.wustl.edu 37 3 33883522 33883522 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013374.4 +1 validated p.E439* 1.000 84 0% 117 35% 39 5.1% - - - NULL TRANK1 9881 genome.wustl.edu 37 3 36874318 36874318 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014831.2 -1 provisional p.E1658D 0.003 88 0% 73 27.4% 5 40% possibly_damaging(0.658) tolerated(0.23) neutral(0.274) NULL TRANK1 9881 genome.wustl.edu 37 3 36874950 36874950 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014831.2 -1 provisional p.D1448N 1.000 35 0% 23 17.4% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRANK1 9881 genome.wustl.edu 37 3 36915688 36915688 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000429976 -1 known p.K285T 1.000 180 0% 70 41.4% 0 - probably_damaging(0.968) deleterious(0) deleterious(0.855) superfamily_Ankyrin repeat LRRFIP2 9209 genome.wustl.edu 37 3 37114352 37114352 + Nonsense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006309.2 -1 validated p.K465* 1.000 234 0% 115 36.5% 1 0% - - - HMMPfam_DUF2051 LRRFIP2 9209 genome.wustl.edu 37 3 37136336 37136336 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006309.2 -1 validated p.S328R 1.000 207 0% 96 39.6% 28 53.5% probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_DUF2051 GOLGA4 2803 genome.wustl.edu 37 3 37370565 37370565 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002078.4 +1 reviewed p.R2058K 1.000 138 0% 111 37.8% 43 41.8% benign(0) deleterious(0) neutral(0.445) NULL VILL 50853 genome.wustl.edu 37 3 38048042 38048042 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015873.3 +1 reviewed p.L770M 0.764 35 0% 63 12.7% 6 0% benign(0.416) tolerated(0.19) neutral(0.184) NULL PLCD1 5333 genome.wustl.edu 37 3 38049554 38049554 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130964.1 -1 validated p.K733N 1.000 113 0% 194 27.3% 37 27% benign(0.023) tolerated(0.19) neutral(0.051) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB ACAA1 30 genome.wustl.edu 37 3 38168168 38168168 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001607.3 -1 reviewed p.G217V 1.000 130 0% 128 32% 129 39.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Thiolase_N,superfamily_Thiolase-like MYD88 4615 genome.wustl.edu 37 3 38180299 38180299 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002468.4 +1 reviewed p.F49L 1.000 37 0% 56 25% 8 25% probably_damaging(0.953) tolerated(0.12) deleterious(0.657) HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain MYD88 4615 genome.wustl.edu 37 3 38182705 38182705 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002468.4 +1 reviewed p.V286 0.959 114 0% 200 10% 33 6% - - - HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain ACVR2B 93 genome.wustl.edu 37 3 38518936 38518936 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001106.3 +1 reviewed p.E71K 1.000 35 0% 53 43.4% 6 66.6% benign(0.001) tolerated(0.4) neutral(0.016) HMMPfam_Activin_recp,superfamily_Snake toxin-like SCN5A 6331 genome.wustl.edu 37 3 38598016 38598016 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099404.1 -1 reviewed p.V1451 0.789 204 0% 134 30.6% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38622577 38622577 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099404.1 -1 reviewed p.E1025* 1.000 55 0% 70 30% 0 - - - - HMMPfam_Na_trans_assoc SCN5A 6331 genome.wustl.edu 37 3 38655514 38655514 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099404.1 -1 reviewed p.R219* 1.000 102 0% 125 39.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN10A 6336 genome.wustl.edu 37 3 38812884 38812884 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006514.2 -1 validated p.V162A 0.942 114 0% 74 35.1% 0 - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_Ion_trans,superfamily_SSF81324 SCN11A 11280 genome.wustl.edu 37 3 38892010 38892010 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014139.2 -1 validated p.N1430T 1.000 102 0% 43 18.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN11A 11280 genome.wustl.edu 37 3 38921503 38921503 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014139.2 -1 validated p.A1111T 1.000 92 0% 46 32.6% 0 - possibly_damaging(0.921) deleterious(0) deleterious(0.816) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN11A 11280 genome.wustl.edu 37 3 38949516 38949516 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014139.2 -1 validated p.R466M 0.567 138 0% 47 21.3% 1 0% possibly_damaging(0.848) deleterious(0.03) deleterious(0.690) NULL SCN11A 11280 genome.wustl.edu 37 3 38950530 38950530 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014139.2 -1 validated p.K419N 0.964 185 0% 82 19.5% 0 - benign(0.202) tolerated(0.09) neutral(0.316) NULL MYRIP 25924 genome.wustl.edu 37 3 39942380 39942380 + Missense_Mutation SNP G G A rs150544621 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015460.2 +1 validated p.D25N 1.000 63 0% 34 20.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FYVE_PHD_ZnF MYRIP 25924 genome.wustl.edu 37 3 40192556 40192556 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015460.2 +1 validated p.S117Y 1.000 68 0% 39 30.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FYVE_PHD_ZnF MYRIP 25924 genome.wustl.edu 37 3 40251479 40251479 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015460.2 +1 validated p.S600 0.998 70 0% 39 28.2% 4 50% - - - NULL ZNF619 285267 genome.wustl.edu 37 3 40529915 40529915 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026746.2 +1 validated NULL 0.022 15 0% 12 41.7% 2 0% - - - - ZNF620 253639 genome.wustl.edu 37 3 40557832 40557832 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175888.2 +1 validated p.K249N 0.998 72 0% 103 29.1% 5 40% possibly_damaging(0.805) deleterious(0) deleterious(0.748) superfamily_C2H2 and C2HC zinc fingers ZNF621 285268 genome.wustl.edu 37 3 40573694 40573694 + Nonsense_Mutation SNP C C T rs181239875 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098414.1 +1 validated p.R145* 0.912 97 0% 122 36.1% 9 44.4% - - - NULL ULK4 54986 genome.wustl.edu 37 3 41795894 41795894 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017886.2 -1 validated p.L760F 0.706 108 0% 91 30.8% 2 0% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) superfamily_ARM-type_fold ULK4 54986 genome.wustl.edu 37 3 41977373 41977373 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017886.2 -1 validated p.E100* 1.000 197 0% 84 29.8% 1 0% - - - superfamily_Kinase_like,HMMPfam_Pkinase TRAK1 22906 genome.wustl.edu 37 3 42132982 42132982 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042646.1 +1 validated p.F7 0.000 152 0% 173 25.4% 0 - - - - NULL CCK 885 genome.wustl.edu 37 3 42299712 42299712 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000729.4 -1 reviewed p.R76* 1.000 118 0% 133 38.3% 1 0% - - - HMMPfam_Gastrin SEC22C 9117 genome.wustl.edu 37 3 42602716 42602716 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032970.2 -1 reviewed p.K140T 0.977 75 0% 36 30.6% 15 46.6% probably_damaging(0.965) tolerated(0.11) deleterious(0.678) NULL NKTR 4820 genome.wustl.edu 37 3 42678484 42678484 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005385.3 +1 reviewed p.R430C 1.000 57 0% 60 33.3% 9 55.5% unknown(0) deleterious(0) - NULL KBTBD5 131377 genome.wustl.edu 37 3 42729742 42729742 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152393.2 +1 validated p.E421* 1.000 23 4.3% 59 25.4% 0 - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KBTBD5 131377 genome.wustl.edu 37 3 42730206 42730206 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152393.2 +1 validated p.D473G 0.986 96 0% 161 34.2% 0 - benign(0.004) tolerated(0.18) neutral(0.056) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain LOC100287203 100287203 genome.wustl.edu 37 3 42733342 42733342 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342329.1 -1 model p.G9V 0.000 41 0% 61 16.4% 0 - - - - NULL HHATL 57467 genome.wustl.edu 37 3 42734255 42734255 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000426666 -1 known p.E121* 0.995 124 0% 154 33.1% 0 - unknown(0) tolerated(0.24) - NULL CCDC13 152206 genome.wustl.edu 37 3 42781243 42781243 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144719.3 -1 validated p.F349 0.170 170 0% 131 29.8% 2 0% - - - NULL CCDC13 152206 genome.wustl.edu 37 3 42794180 42794180 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144719.3 -1 validated p.A134T 1.000 141 0% 115 27.8% 3 66.6% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL CYP8B1 1582 genome.wustl.edu 37 3 42916005 42916005 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004391.2 -1 reviewed p.S435L 0.067 66 0% 76 28.9% 0 - possibly_damaging(0.937) deleterious(0.01) deleterious(0.788) HMMPfam_p450,superfamily_Cytochrome P450 ZNF662 389114 genome.wustl.edu 37 3 42956284 42956284 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134656.1 +1 validated p.R266I 0.904 89 0% 113 43.4% 0 - probably_damaging(0.973) tolerated(0.05) deleterious(0.760) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C3orf39 84892 genome.wustl.edu 37 3 43121931 43121931 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032806.4 -1 provisional p.V331 0.258 42 0% 72 33.3% 67 35.8% - - - NULL C3orf39 84892 genome.wustl.edu 37 3 43122314 43122314 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032806.4 -1 provisional p.D204N 0.998 36 0% 40 27.5% 38 36.8% possibly_damaging(0.444) tolerated(0.07) neutral(0.464) NULL C3orf39 84892 genome.wustl.edu 37 3 43122762 43122762 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032806.4 -1 provisional p.P54 0.000 17 0% 39 35.9% 43 41.8% - - - NULL C3orf77 375337 genome.wustl.edu 37 3 44285082 44285082 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145030.1 +1 validated p.E362* 0.206 39 0% 43 44.2% 0 - - - - NULL C3orf77 375337 genome.wustl.edu 37 3 44286099 44286099 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145030.1 +1 validated p.E701* 0.000 36 0% 64 26.6% 0 - - - - HMMPfam_PAZ C3orf77 375337 genome.wustl.edu 37 3 44364722 44364722 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145030.1 +1 validated p.L1537P 0.996 97 0% 61 34.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C3orf77 375337 genome.wustl.edu 37 3 44369893 44369893 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145030.1 +1 validated p.T1609 0.296 123 0% 93 21.5% 0 - - - - NULL ZNF445 353274 genome.wustl.edu 37 3 44488159 44488159 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181489.5 -1 validated p.R1002* 0.015 257 0% 125 22.4% 4 50% - - - superfamily_SSF57667 ZNF852 285346 genome.wustl.edu 37 3 44541187 44541187 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000436261 -1 known p.G361V 1.000 63 0% 54 42.6% 5 20% possibly_damaging(0.638) deleterious(0) deleterious(0.668) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF167 55888 genome.wustl.edu 37 3 44612097 44612097 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018651.2 +1 validated p.E499* 0.006 92 0% 84 34.5% 3 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF167 55888 genome.wustl.edu 37 3 44612293 44612293 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018651.2 +1 validated p.K564T 0.001 103 0% 107 35.5% 3 100% probably_damaging(0.978) tolerated(0.28) neutral(0.452) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF167 55888 genome.wustl.edu 37 3 44612750 44612750 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018651.2 +1 validated p.E716D 1.000 117 0% 120 40% 2 0% possibly_damaging(0.748) deleterious(0.02) deleterious(0.657) superfamily_C2H2 and C2HC zinc fingers ZNF502 91392 genome.wustl.edu 37 3 44762563 44762563 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134440.1 +1 validated p.R85K 0.000 66 0% 66 9.1% 0 - benign(0) tolerated(0.85) neutral(0.001) NULL CLEC3B 7123 genome.wustl.edu 37 3 45077071 45077071 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003278.2 +1 validated p.T88 0.000 24 0% 64 40.6% 4 0% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CDCP1 64866 genome.wustl.edu 37 3 45127153 45127153 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022842.3 -1 reviewed p.E830* 0.000 138 0% 73 39.7% 25 60% - - - NULL SLC6A20 54716 genome.wustl.edu 37 3 45801515 45801515 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020208.3 -1 reviewed e10-1 1.000 44 0% 62 35.5% 0 - - - - - LZTFL1 54585 genome.wustl.edu 37 3 45872607 45872607 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020347.2 -1 validated p.E160D 0.992 183 0% 94 25.5% 13 61.5% possibly_damaging(0.468) tolerated(0.06) deleterious(0.476) NULL CCR9 10803 genome.wustl.edu 37 3 45942961 45942961 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031200.1 +1 reviewed p.F227 0.000 213 0% 154 33.1% 2 100% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FYCO1 79443 genome.wustl.edu 37 3 46009415 46009415 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024513.2 -1 validated p.R471* 0.000 56 0% 47 40.4% 1 0% - - - superfamily_Prefoldin CCR1 1230 genome.wustl.edu 37 3 46244960 46244960 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001295.2 -1 reviewed p.A282V 0.995 60 0% 32 28.1% 8 0% benign(0.156) deleterious(0.02) neutral(0.397) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCR2 729230 genome.wustl.edu 37 3 46399297 46399297 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001123041.2 +1 validated p.I93 0.600 243 0% 170 12.9% 7 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TMIE 259236 genome.wustl.edu 37 3 46747384 46747384 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_147196.2 +1 reviewed p.F66 1.000 93 0% 183 29% 0 - - - - NULL PTH1R 5745 genome.wustl.edu 37 3 46940823 46940823 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000316.2 +1 reviewed p.L289I 1.000 173 0% 379 25.3% 2 50% benign(0.089) tolerated(0.33) neutral(0.030) HMMPfam_7tm_2,superfamily_SSF81321 SETD2 29072 genome.wustl.edu 37 3 47164011 47164011 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000445387 -1 known p.G339R 0.968 95 0% 44 34.1% 8 50% - - - NULL SETD2 29072 genome.wustl.edu 37 3 47164540 47164540 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014159.6 -1 reviewed p.R529I 1.000 139 0% 73 28.8% 8 37.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SETD2 29072 genome.wustl.edu 37 3 47164724 47164724 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014159.6 -1 reviewed p.T468A 1.000 162 0% 78 37.2% 11 81.8% benign(0.141) deleterious(0) neutral(0.457) NULL KIF9 64147 genome.wustl.edu 37 3 47288866 47288866 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134878.1 -1 validated p.I410 0.066 80 0% 81 25.9% 2 50% - - - NULL SMARCC1 6599 genome.wustl.edu 37 3 47676808 47676808 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003074.3 -1 validated p.E840* 1.000 311 0% 235 25.5% 27 7.4% - - - NULL SMARCC1 6599 genome.wustl.edu 37 3 47752239 47752239 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003074.3 -1 validated p.D284E 1.000 160 0% 120 32.5% 18 5.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_BRCT PFKFB4 5210 genome.wustl.edu 37 3 48573875 48573875 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004567.2 -1 provisional p.I218 1.000 35 0% 43 34.9% 11 18.1% - - - HMMPfam_6PF2K,superfamily_SSF52540 SLC26A6 65010 genome.wustl.edu 37 3 48663749 48663749 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022911.2 -1 reviewed p.D723N 0.976 45 0% 86 38.4% 63 36.5% benign(0.014) tolerated(0.07) neutral(0.320) HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa CELSR3 1951 genome.wustl.edu 37 3 48697816 48697816 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001407.2 -1 reviewed p.D751A 1.000 28 0% 70 32.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PRKAR2A 5576 genome.wustl.edu 37 3 48831472 48831472 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004157.2 -1 reviewed p.E103 0.878 275 0% 177 25.4% 11 45.4% - - - superfamily_cNMP_binding USP19 10869 genome.wustl.edu 37 3 49153595 49153595 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006677.1 -1 provisional p.R351 1.000 45 0% 67 20.9% 39 38.4% - - - superfamily_HSP20-like chaperones,HMMPfam_DUF1872 CCDC36 339834 genome.wustl.edu 37 3 49293903 49293903 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135197.1 +1 validated p.A325S 0.000 48 0% 43 18.6% 0 - benign(0.001) tolerated(0.34) neutral(0.023) NULL CCDC36 339834 genome.wustl.edu 37 3 49294339 49294339 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135197.1 +1 validated p.K470T 0.000 102 0% 109 23.9% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL C3orf62 375341 genome.wustl.edu 37 3 49308863 49308863 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198562.2 -1 validated p.R185Q 1.000 72 0% 99 30.3% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C3orf62 375341 genome.wustl.edu 37 3 49313874 49313874 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198562.2 -1 validated p.R144 0.913 215 0.5% 358 35.2% 11 54.5% - - - NULL APEH 327 genome.wustl.edu 37 3 49716286 49716286 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001640.3 +1 reviewed p.E354D 0.934 83 0% 132 31.8% 103 32% benign(0) tolerated(1) - superfamily_Peptidase_S9A_N GMPPB 29925 genome.wustl.edu 37 3 49760467 49760467 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013334.2 -1 reviewed p.D114N 1.000 42 0% 69 31.9% 37 21.6% benign(0.182) tolerated(0.27) neutral(0.050) HMMPfam_NTP_transferase,superfamily_SSF53448 CAMKV 79012 genome.wustl.edu 37 3 49897628 49897628 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024046.3 -1 validated p.K306N 1.000 112 0% 168 23.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEMA3F 6405 genome.wustl.edu 37 3 50214233 50214233 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004186.3 +1 validated p.L194 1.000 50 0% 98 24.5% 22 31.8% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema ZMYND10 51364 genome.wustl.edu 37 3 50379559 50379559 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015896.2 -1 validated p.L296I 1.000 99 0% 204 28.9% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL DOCK3 1795 genome.wustl.edu 37 3 51413217 51413217 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004947.3 +1 validated p.V1817 0.991 173 0% 204 28.9% 2 100% - - - NULL VPRBP 9730 genome.wustl.edu 37 3 51464927 51464927 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014703.2 -1 validated p.A528 0.001 78 0% 47 19.1% 12 58.3% - - - superfamily_ARM repeat PCBP4 57060 genome.wustl.edu 37 3 51994677 51994677 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020418.3 -1 reviewed p.A6 0.000 94 0% 147 38.8% 0 - - - - NULL DNAH1 25981 genome.wustl.edu 37 3 52432906 52432906 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015512.4 +1 validated p.D4044Y 0.983 31 0% 91 29.7% 8 62.5% benign(0.068) tolerated(0.16) neutral(0.064) HMMPfam_Dynein_heavy STAB1 23166 genome.wustl.edu 37 3 52542326 52542326 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015136.2 +1 reviewed p.C729Y 1.000 119 0% 181 24.9% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00181,PatternScan_CYTOCHROME_P450,superfamily_EGF/Laminin PBRM1 55193 genome.wustl.edu 37 3 52597438 52597438 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018165.4 -1 validated p.F1284C 1.000 178 0% 127 28.3% 28 42.8% probably_damaging(0.989) tolerated(0.18) deleterious(0.495) NULL ITIH1 3697 genome.wustl.edu 37 3 52823866 52823866 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002215.2 +1 reviewed p.D773Y 0.642 57 0% 91 31.9% 0 - benign(0.133) deleterious(0.03) neutral(0.376) HMMPfam_ITI_HC_C CACNA1D 776 genome.wustl.edu 37 3 53694194 53694194 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000720.2 +1 validated p.E220* 1.000 51 0% 33 30.3% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53837533 53837533 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000720.2 +1 validated p.L1860S 0.467 93 0% 106 28.3% 0 - benign(0.005) tolerated(0.44) neutral(0.013) NULL CACNA2D3 55799 genome.wustl.edu 37 3 54919350 54919350 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018398.2 +1 reviewed p.E652G 1.000 120 0% 76 39.5% 3 66.6% possibly_damaging(0.863) tolerated(0.13) deleterious(0.586) NULL CACNA2D3 55799 genome.wustl.edu 37 3 55018661 55018661 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018398.2 +1 reviewed p.N861 0.995 126 0% 79 39.2% 1 0% - - - NULL ERC2 26059 genome.wustl.edu 37 3 56114979 56114979 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015576.1 -1 validated p.E503* 1.000 264 0% 56 33.9% 0 - - - - superfamily_Prefoldin,HMMPfam_Cast FAM208A 23272 genome.wustl.edu 37 3 56657592 56657592 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015224.3 -1 validated p.L1059I 1.000 116 0% 61 11.5% 10 0% possibly_damaging(0.945) tolerated(0.47) neutral(0.401) NULL FAM208A 23272 genome.wustl.edu 37 3 56703777 56703777 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001112736.1 -1 validated p.P229H 1.000 96 0% 79 30.4% 9 22.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL APPL1 26060 genome.wustl.edu 37 3 57291360 57291360 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012096.2 +1 reviewed p.S445Y 1.000 147 0% 133 32.3% 25 28% possibly_damaging(0.906) deleterious(0.03) deleterious(0.724) NULL APPL1 26060 genome.wustl.edu 37 3 57293094 57293094 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012096.2 +1 reviewed p.K490T 0.991 138 0% 102 33.3% 10 50% benign(0.024) tolerated(0.7) neutral(0.003) NULL DNAH12 201625 genome.wustl.edu 37 3 57326127 57326127 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000295941 -1 known p.L2449I 0.017 183 0% 84 34.5% 0 - - - - NULL DNAH12 201625 genome.wustl.edu 37 3 57343267 57343267 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178504.4 -1 validated p.D2833N 1.000 215 0% 116 30.2% 0 - possibly_damaging(0.848) tolerated(0.12) deleterious(0.586) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57368547 57368547 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000462199 -1 known p.E131* 0.000 182 0% 249 30.1% 0 - benign(0) tolerated(0.58) neutral(0.005) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57389125 57389125 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178504.4 -1 validated p.R2268C 1.000 188 0.5% 104 30.8% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH12 201625 genome.wustl.edu 37 3 57407419 57407419 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178504.4 -1 validated p.F1777L 1.000 76 0% 55 25.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DNAH12 201625 genome.wustl.edu 37 3 57493417 57493417 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178504.4 -1 validated p.K284Q 0.985 153 0% 143 18.2% 0 - benign(0.414) tolerated(0.49) neutral(0.145) NULL ARF4 378 genome.wustl.edu 37 3 57563077 57563077 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001660.3 -1 reviewed p.R99I 1.000 139 0% 110 25.5% 171 41.5% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases FLNB 2317 genome.wustl.edu 37 3 58094286 58094286 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001457.3 +1 reviewed p.K681N 1.000 90 0% 52 34.6% 20 45% possibly_damaging(0.912) tolerated(0.12) deleterious(0.624) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin DNASE1L3 1776 genome.wustl.edu 37 3 58178459 58178459 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004944.2 -1 reviewed p.K291N 0.000 184 0% 192 27.1% 0 - benign(0.15) tolerated(0.18) neutral(0.069) NULL PDHB 5162 genome.wustl.edu 37 3 58415443 58415443 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000925.3 -1 reviewed p.E262* 1.000 202 0% 279 22.6% 69 2.8% - - - HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like ACOX2 8309 genome.wustl.edu 37 3 58519752 58519752 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003500.3 -1 reviewed p.I148 0.016 181 0% 158 34.2% 1 0% - - - superfamily_AcylCoA_dehyd_NM FAM107A 11170 genome.wustl.edu 37 3 58555509 58555509 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001076778.1 -1 validated p.E27K 1.000 93 0% 69 30.4% 2 0% possibly_damaging(0.646) deleterious(0.01) deleterious(0.632) HMMPfam_DUF1151 PTPRG 5793 genome.wustl.edu 37 3 61989043 61989043 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002841.3 +1 reviewed p.D131N 1.000 124 0% 59 35.6% 5 60% benign(0.372) deleterious(0) deleterious(0.563) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase PTPRG 5793 genome.wustl.edu 37 3 62229530 62229530 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002841.3 +1 reviewed p.R809* 0.999 196 0% 52 30.8% 15 0% - - - NULL ADAMTS9 56999 genome.wustl.edu 37 3 64617528 64617528 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182920.1 -1 reviewed p.S750Y 1.000 359 0% 131 27.5% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRIG1 26018 genome.wustl.edu 37 3 66444616 66444616 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015541.2 -1 validated p.S439N 1.000 30 0% 28 42.9% 258 49.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_L domain-like KBTBD8 84541 genome.wustl.edu 37 3 67054474 67054474 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032505.2 +1 validated p.W335* 1.000 120 0% 160 31.9% 1 100% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KBTBD8 84541 genome.wustl.edu 37 3 67054615 67054615 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032505.2 +1 validated p.L382 0.342 129 0% 183 36.1% 0 - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain SUCLG2 8801 genome.wustl.edu 37 3 67568692 67568692 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000460567 -1 known p.R105C 0.994 147 0% 129 31.8% 24 29.1% - - - HMMPfam_ATP-grasp_2,superfamily_Glutathione synthetase ATP-binding domain-like TMF1 7110 genome.wustl.edu 37 3 69072387 69072387 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007114.2 -1 validated p.D1075Y 1.000 243 0% 254 11.4% 6 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMF1 7110 genome.wustl.edu 37 3 69077056 69077056 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007114.2 -1 validated p.E918* 1.000 201 0% 156 28.8% 12 16.6% - - - NULL TMF1 7110 genome.wustl.edu 37 3 69082718 69082718 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007114.2 -1 validated p.K794N 1.000 178 0% 148 34.5% 12 8.3% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL LMOD3 56203 genome.wustl.edu 37 3 69168078 69168078 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198271.3 -1 validated p.P476 0.000 181 0% 87 24.1% 0 - - - - NULL LMOD3 56203 genome.wustl.edu 37 3 69168304 69168304 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198271.3 -1 validated p.R401Q 1.000 194 0% 99 10.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tropomodulin,superfamily_RNI-like LMOD3 56203 genome.wustl.edu 37 3 69169206 69169206 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198271.3 -1 validated p.K100N 0.000 131 0% 46 26.1% 0 - benign(0) tolerated(0.21) neutral(0.044) NULL ENSG00000206939 0 genome.wustl.edu 37 3 70857545 70857545 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384212 +1 novel NULL 0.312 116 0% 99 43.4% 0 - - - - - SHQ1 55164 genome.wustl.edu 37 3 72799586 72799586 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018130.2 -1 validated p.S528Y 0.003 84 0% 63 36.5% 30 33.3% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL ROBO2 6092 genome.wustl.edu 37 3 77684173 77684173 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002942.3 +1 reviewed p.R1305* 1.000 114 0% 84 29.8% 18 22.2% - - - NULL ROBO1 6091 genome.wustl.edu 37 3 78683187 78683187 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002941.3 -1 reviewed p.R1127* 1.000 350 0% 139 32.4% 24 4.1% - - - NULL ROBO1 6091 genome.wustl.edu 37 3 78717412 78717412 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002941.3 -1 reviewed p.P557 0.982 175 0% 83 24.1% 9 0% - - - superfamily_Fibronectin type III CADM2 253559 genome.wustl.edu 37 3 86115931 86115931 + Nonstop_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153184.3 +1 validated p.*438E 1.000 79 0% 52 26.9% 0 - - - - NULL POU1F1 5449 genome.wustl.edu 37 3 87310438 87310438 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122757.1 -1 reviewed p.R243Q 1.000 254 0% 108 18.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like CGGBP1 8545 genome.wustl.edu 37 3 88104786 88104786 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008390.1 -1 validated p.A114G 1.000 130 0% 235 28.5% 78 47.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ZNF654 55279 genome.wustl.edu 37 3 88189095 88189095 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018293.2 +1 validated p.R212I 1.000 93 0% 75 33.3% 8 37.5% possibly_damaging(0.718) tolerated(0.16) neutral(0.320) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C3orf38 285237 genome.wustl.edu 37 3 88205225 88205225 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000318887 +1 known p.E144* 1.000 118 0% 156 30.8% 15 53.3% - - - superfamily_NTF2-like C3orf38 285237 genome.wustl.edu 37 3 88205554 88205554 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000318887 +1 known p.I253M 0.929 208 0% 221 26.7% 24 66.6% possibly_damaging(0.86) deleterious(0.03) deleterious(0.697) superfamily_NTF2-like EPHA3 2042 genome.wustl.edu 37 3 89259123 89259123 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005233.5 +1 reviewed p.R89S 0.997 74 0% 76 27.6% 4 50% possibly_damaging(0.432) deleterious(0) deleterious(0.585) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like EPHA3 2042 genome.wustl.edu 37 3 89448494 89448494 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005233.5 +1 reviewed p.I486M 1.000 91 0% 59 37.3% 9 33.3% probably_damaging(0.997) tolerated(0.3) deleterious(0.495) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III EPHA3 2042 genome.wustl.edu 37 3 89457253 89457253 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005233.5 +1 reviewed p.E578D 0.987 316 0% 138 29.7% 6 66.6% possibly_damaging(0.888) tolerated(0.41) neutral(0.362) NULL PROS1 5627 genome.wustl.edu 37 3 93617331 93617331 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000313.3 -1 reviewed p.K270N 0.980 134 0% 98 33.7% 2 0% possibly_damaging(0.78) tolerated(0.07) deleterious(0.611) HMMSmart_EGF_CA,superfamily_ConA_like_lec_gl PROS1 5627 genome.wustl.edu 37 3 93624880 93624880 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000313.3 -1 reviewed p.E152* 0.236 99 0% 123 26% 1 0% - - - HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 CRYBG3 131544 genome.wustl.edu 37 3 97596208 97596208 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153605.2 +1 validated p.K109T 0.156 45 0% 25 28% 3 33.3% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL CRYBG3 131544 genome.wustl.edu 37 3 97617806 97617806 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153605.2 +1 validated p.I646S 1.000 141 0% 48 33.3% 3 100% possibly_damaging(0.8) deleterious(0.05) deleterious(0.646) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like CRYBG3 131544 genome.wustl.edu 37 3 97631113 97631113 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153605.2 +1 validated p.R755* 1.000 181 0% 176 42.6% 7 42.8% - - - HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like MINA 84864 genome.wustl.edu 37 3 97686059 97686059 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042533.1 -1 validated p.D127Y 1.000 195 0% 280 33.6% 18 55.5% benign(0.076) tolerated(0.83) neutral(0.006) HMMPfam_Cupin_4,superfamily_Clavaminate synthase-like GABRR3 200959 genome.wustl.edu 37 3 97705699 97705699 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000329044 -1 known p.S183L 0.000 150 0% 98 28.6% 0 - benign(0.01) tolerated(0.31) neutral(0.028) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore OR5AC2 81050 genome.wustl.edu 37 3 97806054 97806054 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_054106.1 +1 provisional p.E13G 0.053 225 0% 221 34.8% 0 - benign(0.411) deleterious(0.02) deleterious(0.516) superfamily_SSF81321 OR5H1 26341 genome.wustl.edu 37 3 97852124 97852124 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005338.1 +1 provisional p.N195H 0.272 183 0% 86 18.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR5H1 26341 genome.wustl.edu 37 3 97852289 97852289 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005338.1 +1 provisional p.L250V 0.000 340 0% 117 21.4% 0 - probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMPfam_7tm_1,superfamily_SSF81321 OR5H15 403274 genome.wustl.edu 37 3 97887583 97887583 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005515.1 +1 provisional p.L14F 0.953 117 0% 30 16.7% 0 - possibly_damaging(0.884) tolerated(0.05) deleterious(0.690) superfamily_SSF81321 OR5H6 79295 genome.wustl.edu 37 3 97983591 97983591 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005479.1 +1 provisional p.E155* 0.179 178 0% 50 30% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5K4 403278 genome.wustl.edu 37 3 98072836 98072836 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005517.1 +1 provisional p.A47T 0.025 246 0% 100 24% 0 - benign(0.04) tolerated(0.56) neutral(0.009) HMMPfam_7tm_1,superfamily_SSF81321 OR5K4 403278 genome.wustl.edu 37 3 98072991 98072991 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005517.1 +1 provisional p.M98I 0.998 224 0% 112 33.9% 0 - benign(0.024) tolerated(0.65) neutral(0.004) HMMPfam_7tm_1,superfamily_SSF81321 OR5K4 403278 genome.wustl.edu 37 3 98073124 98073124 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005517.1 +1 provisional p.R143W 0.994 180 0% 88 31.8% 0 - possibly_damaging(0.893) tolerated(0.29) neutral(0.381) HMMPfam_7tm_1,superfamily_SSF81321 OR5K1 26339 genome.wustl.edu 37 3 98189084 98189084 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004736.2 +1 provisional p.L222I 0.133 280 0% 95 32.6% 0 - benign(0.034) tolerated(0.34) neutral(0.025) HMMPfam_7tm_1,superfamily_SSF81321 OR5K2 402135 genome.wustl.edu 37 3 98216707 98216707 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004737.1 +1 provisional p.I61 0.997 296 0% 151 12.6% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5K2 402135 genome.wustl.edu 37 3 98217188 98217188 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004737.1 +1 provisional p.L222I 0.020 310 0% 104 30.8% 0 - benign(0.062) tolerated(0.25) neutral(0.041) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5K2 402135 genome.wustl.edu 37 3 98217437 98217437 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004737.1 +1 provisional p.L305M 0.169 58 0% 36 33.3% 0 - benign(0.003) tolerated(0.45) neutral(0.012) superfamily_Family A G protein-coupled receptor-like ST3GAL6 10402 genome.wustl.edu 37 3 98510824 98510824 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006100.2 +1 provisional p.S299Y 1.000 196 0% 92 29.3% 4 0% probably_damaging(0.954) deleterious(0.01) deleterious(0.803) HMMPfam_Glyco_transf_29 FILIP1L 11259 genome.wustl.edu 37 3 99569013 99569013 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182909.2 -1 validated p.E503* 1.000 201 0% 119 32.8% 5 0% - - - HMMPfam_CortBP2 TBC1D23 55773 genome.wustl.edu 37 3 100039796 100039796 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018309.2 +1 validated p.E652* 1.000 112 0% 63 34.9% 12 66.6% - - - NULL TOMM70A 9868 genome.wustl.edu 37 3 100096719 100096719 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014820.3 -1 validated p.E308* 1.000 223 0% 86 18.6% 27 0% - - - superfamily_SSF48452 GPR128 84873 genome.wustl.edu 37 3 100349554 100349554 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032787.2 +1 validated p.F79V 1.000 79 0% 27 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR128 84873 genome.wustl.edu 37 3 100374834 100374834 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032787.2 +1 validated p.E606D 0.055 151 0% 73 35.6% 0 - possibly_damaging(0.858) tolerated(0.37) neutral(0.350) HMMPfam_7tm_2 TFG 10342 genome.wustl.edu 37 3 100432653 100432653 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007565.1 +1 validated p.R42* 0.752 81 0% 124 35.5% 26 15.3% - - - HMMPfam_PB1,HMMSmart_PB1,superfamily_SSF54277 IMPG2 50939 genome.wustl.edu 37 3 100964726 100964726 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016247.2 -1 validated p.S488Y 1.000 90 0% 26 23.1% 0 - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL IMPG2 50939 genome.wustl.edu 37 3 100976371 100976371 + Splice_Site SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016247.2 -1 validated e10+2 1.000 61 0% 20 35% 0 - - - - - ZBTB11 27107 genome.wustl.edu 37 3 101390168 101390168 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014415.3 -1 validated p.K195T 1.000 141 0% 193 36.3% 11 45.4% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_BTB/POZ_fold ZBTB11 27107 genome.wustl.edu 37 3 101391037 101391037 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014415.3 -1 validated p.D111Y 1.000 186 0% 255 26.3% 11 36.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL RPL24 6152 genome.wustl.edu 37 3 101404675 101404675 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000986.3 -1 reviewed p.K60R 1.000 86 0% 113 29.2% 1991 45.8% possibly_damaging(0.848) tolerated(0.14) deleterious(0.575) HMMPfam_Ribosomal_L24e FAM55C 91775 genome.wustl.edu 37 3 101525962 101525962 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134456.1 +1 validated p.R305K 0.000 248 0% 114 28.1% 4 25% benign(0) tolerated(0.95) - NULL CBLB 868 genome.wustl.edu 37 3 105470368 105470368 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170662.3 -1 validated p.D221Y 1.000 109 0.9% 123 24.4% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cbl_N2,superfamily_EF-hand CCDC54 84692 genome.wustl.edu 37 3 107097382 107097382 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032600.2 +1 provisional p.G316 0.210 161 0% 70 30% 0 - - - - NULL BBX 56987 genome.wustl.edu 37 3 107517406 107517406 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142568.1 +1 validated p.V797A 0.884 104 0% 56 25% 12 41.6% possibly_damaging(0.737) deleterious(0) deleterious(0.714) NULL HHLA2 11148 genome.wustl.edu 37 3 108072594 108072594 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007072.2 +1 provisional p.V129L 0.000 91 0% 36 27.8% 0 - benign(0.004) tolerated(0.67) neutral(0.003) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 HHLA2 11148 genome.wustl.edu 37 3 108076877 108076877 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007072.2 +1 provisional p.N291S 0.019 117 0% 65 43.1% 0 - possibly_damaging(0.873) tolerated(0.63) neutral(0.343) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 MYH15 22989 genome.wustl.edu 37 3 108124188 108124188 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014981.1 -1 validated p.F1598C 0.022 75 0% 41 22% 0 - possibly_damaging(0.881) tolerated(0.17) neutral(0.403) HMMPfam_Myosin_tail_1 MYH15 22989 genome.wustl.edu 37 3 108163624 108163624 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014981.1 -1 validated p.E860* 0.998 134 0% 55 32.7% 1 0% - - - NULL MYH15 22989 genome.wustl.edu 37 3 108224633 108224633 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014981.1 -1 validated p.I64 0.874 195 0% 120 36.7% 0 - - - - HMMPfam_Myosin_N DZIP3 9666 genome.wustl.edu 37 3 108361346 108361346 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014648.3 +1 validated p.K376Q 1.000 60 0% 13 53.8% 3 66.6% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL DZIP3 9666 genome.wustl.edu 37 3 108367791 108367791 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014648.3 +1 validated p.K663 1.000 74 0% 51 29.4% 2 100% - - - NULL DZIP3 9666 genome.wustl.edu 37 3 108388553 108388553 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014648.3 +1 validated p.D817Y 1.000 246 0% 89 14.6% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GUCA1C 9626 genome.wustl.edu 37 3 108627054 108627054 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005459.3 -1 validated p.E149* 0.992 110 0% 83 28.9% 0 - - - - HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand MORC1 27136 genome.wustl.edu 37 3 108690197 108690197 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014429.3 -1 reviewed p.E844* 0.932 184 0% 82 29.3% 0 - - - - NULL DPPA4 55211 genome.wustl.edu 37 3 109049483 109049483 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018189.3 -1 validated p.V189 0.000 78 0% 55 41.8% 0 - - - - NULL DPPA4 55211 genome.wustl.edu 37 3 109050630 109050630 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018189.3 -1 validated p.K114T 0.996 111 0% 101 16.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DPPA4 55211 genome.wustl.edu 37 3 109052826 109052826 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018189.3 -1 validated p.E23D 0.002 215 0% 177 29.9% 0 - benign(0.242) tolerated(0.05) neutral(0.370) NULL PVRL3 25945 genome.wustl.edu 37 3 110830980 110830980 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000486596 +1 known p.D88N 0.964 51 0% 21 19% 4 25% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PVRL3 25945 genome.wustl.edu 37 3 110852754 110852754 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015480.1 +1 provisional p.D448Y 1.000 93 0% 112 35.7% 8 50% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL CD96 10225 genome.wustl.edu 37 3 111368615 111368615 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198196.2 +1 reviewed p.E574K 0.369 145 0% 76 28.9% 7 0% benign(0.18) tolerated(0.3) neutral(0.045) NULL PLCXD2 257068 genome.wustl.edu 37 3 111432894 111432894 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153268.3 +1 validated p.V262A 1.000 54 0% 18 38.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PLC-like_Pdiesterase_TIM-brl PLCXD2 257068 genome.wustl.edu 37 3 111439671 111439671 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000312791 +1 known p.A323V 0.992 177 0% 70 27.1% 0 - - - - superfamily_PLC-like phosphodiesterases PHLDB2 90102 genome.wustl.edu 37 3 111604116 111604116 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134438.1 +1 validated p.L398I 1.000 98 0% 39 28.2% 1 0% probably_damaging(0.99) tolerated(0.14) deleterious(0.691) NULL TAGLN3 29114 genome.wustl.edu 37 3 111732429 111732429 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000494932 +1 known p.T118M 0.000 24 0.000 8 0.500 1 0% unknown(0) - - NULL TMPRSS7 344805 genome.wustl.edu 37 3 111766737 111766737 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042575.2 +1 validated p.I168 0.000 104 0% 39 33.3% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SLC9A10 285335 genome.wustl.edu 37 3 111887814 111887814 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183061.1 -1 validated p.I1049 0.879 161 0% 102 24.5% 0 - - - - NULL SLC9A10 285335 genome.wustl.edu 37 3 111923110 111923110 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183061.1 -1 validated p.V709 0.000 83 0% 48 33.3% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SLC9A10 285335 genome.wustl.edu 37 3 111983102 111983102 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183061.1 -1 validated p.E323* 0.434 106 0% 51 31.4% 0 - - - - HMMPfam_Na_H_Exchanger BTLA 151888 genome.wustl.edu 37 3 112190059 112190059 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181780.3 -1 validated p.G183R 1.000 148 0% 108 23.1% 5 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL CD200R1L 344807 genome.wustl.edu 37 3 112538669 112538669 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008784.2 -1 validated p.V251 0.000 93 0% 41 31.7% 0 - - - - NULL CD200R1L 344807 genome.wustl.edu 37 3 112546463 112546463 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008784.2 -1 validated p.N61H 0.000 191 0% 112 27.7% 1 0% possibly_damaging(0.922) tolerated(0.06) deleterious(0.694) superfamily_Immunoglobulin C3orf17 25871 genome.wustl.edu 37 3 112724779 112724779 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015412.3 -1 validated p.T436 0.996 205 0% 72 18.1% 32 34.3% - - - NULL WDR52 55779 genome.wustl.edu 37 3 113145025 113145025 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018338.3 -1 validated p.S118L 0.871 155 0% 101 29.7% 1 0% possibly_damaging(0.9) deleterious(0) deleterious(0.801) NULL NAA50 80218 genome.wustl.edu 37 3 113440761 113440761 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025146.1 -1 provisional p.S119L 1.000 230 0% 95 23.2% 107 46.7% benign(0.024) tolerated(0.09) neutral(0.297) HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) ATP6V1A 523 genome.wustl.edu 37 3 113503590 113503590 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001690.2 +1 reviewed p.E158 0.997 126 0% 95 24.2% 36 33.3% - - - NULL DRD3 1814 genome.wustl.edu 37 3 113847743 113847743 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000796.3 -1 reviewed p.C341 1.000 65 0% 35 22.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DRD3 1814 genome.wustl.edu 37 3 113850240 113850240 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000796.3 -1 reviewed p.S244Y 1.000 189 0% 101 40.6% 0 - possibly_damaging(0.942) tolerated(0.05) deleterious(0.732) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARHGAP31 57514 genome.wustl.edu 37 3 119102007 119102007 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020754.2 +1 reviewed p.E206* 1.000 122 0% 99 29.3% 3 0% - - - HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP31 57514 genome.wustl.edu 37 3 119112338 119112338 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020754.2 +1 reviewed p.K302N 1.000 132 0% 88 28.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP31 57514 genome.wustl.edu 37 3 119128401 119128401 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020754.2 +1 reviewed p.G568 0.000 57 0% 40 30% 3 33.3% - - - NULL ARHGAP31 57514 genome.wustl.edu 37 3 119134243 119134243 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020754.2 +1 reviewed p.R1156M 0.000 92 0% 51 37.3% 3 0% benign(0.163) deleterious(0) neutral(0.459) NULL TMEM39A 55254 genome.wustl.edu 37 3 119171324 119171324 + Silent SNP C C T rs188443867 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018266.1 -1 provisional p.A130 0.835 87 0% 54 29.6% 20 25% - - - HMMPfam_Tmp39 TIMMDC1 51300 genome.wustl.edu 37 3 119236114 119236114 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016589.3 +1 validated p.R220I 0.915 103 0% 45 44.4% 75 41.3% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL CD80 941 genome.wustl.edu 37 3 119263442 119263442 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005191.3 -1 validated p.A125T 0.000 81 0% 56 28.6% 0 - benign(0.182) tolerated(0.45) neutral(0.029) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CD80 941 genome.wustl.edu 37 3 119263526 119263526 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005191.3 -1 validated p.N97H 0.001 132 0% 64 26.6% 2 0% possibly_damaging(0.608) deleterious(0.01) deleterious(0.616) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CD80 941 genome.wustl.edu 37 3 119276519 119276519 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005191.3 -1 validated p.F19L 0.000 135 0% 77 29.9% 1 0% benign(0.095) tolerated(1) neutral(0.007) NULL C3orf15 89876 genome.wustl.edu 37 3 119451165 119451165 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033364.3 +1 validated p.R348I 0.992 80 0% 65 29.2% 0 - possibly_damaging(0.657) tolerated(0.14) deleterious(0.481) NULL C3orf15 89876 genome.wustl.edu 37 3 119458111 119458111 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033364.3 +1 validated p.E491* 1.000 132 0% 69 30.4% 0 - - - - NULL C3orf15 89876 genome.wustl.edu 37 3 119466040 119466040 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033364.3 +1 validated p.E661* 0.997 81 0% 85 14.1% 0 - - - - NULL NR1I2 8856 genome.wustl.edu 37 3 119526160 119526160 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022002.2 +1 reviewed p.E60D 0.015 147 0% 217 22.6% 0 - benign(0) tolerated(0.46) neutral(0.012) NULL GSK3B 2932 genome.wustl.edu 37 3 119666150 119666150 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002093.3 -1 reviewed p.R111* 1.000 146 0% 77 27.3% 7 14.2% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GPR156 165829 genome.wustl.edu 37 3 119905556 119905556 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153002.2 -1 validated p.W183* 1.000 67 0% 29 31% 0 - - - - HMMPfam_7tm_3 FSTL1 11167 genome.wustl.edu 37 3 120129830 120129830 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007085.4 -1 reviewed p.E100 1.000 81 0% 126 30.2% 140 34.2% - - - NULL STXBP5L 9515 genome.wustl.edu 37 3 120628449 120628449 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014980.2 +1 validated p.K8N 1.000 136 0% 231 25.5% 0 - probably_damaging(0.994) tolerated(0.36) deleterious(0.472) NULL STXBP5L 9515 genome.wustl.edu 37 3 120957827 120957827 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014980.2 +1 validated p.I398 1.000 58 0% 35 17.1% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like STXBP5L 9515 genome.wustl.edu 37 3 120973841 120973841 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014980.2 +1 validated p.P514Q 1.000 73 0% 90 34.4% 0 - possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) HMMSmart_SM00320,superfamily_WD40 repeat-like STXBP5L 9515 genome.wustl.edu 37 3 121097679 121097679 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014980.2 +1 validated p.R789* 1.000 67 0% 38 31.6% 0 - - - - NULL STXBP5L 9515 genome.wustl.edu 37 3 121126344 121126344 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014980.2 +1 validated p.H972N 1.000 145 0% 57 33.3% 0 - possibly_damaging(0.837) tolerated(0.5) neutral(0.330) NULL STXBP5L 9515 genome.wustl.edu 37 3 121134798 121134798 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014980.2 +1 validated p.F1094S 1.000 142 0% 75 24% 0 - benign(0.121) deleterious(0.01) neutral(0.415) NULL POLQ 10721 genome.wustl.edu 37 3 121207703 121207703 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199420.3 -1 validated p.V1359I 0.000 240 0% 135 34.1% 1 100% benign(0.029) tolerated(0.08) neutral(0.301) NULL POLQ 10721 genome.wustl.edu 37 3 121208058 121208058 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199420.3 -1 validated p.I1240 0.000 209 0% 149 34.9% 4 50% - - - NULL POLQ 10721 genome.wustl.edu 37 3 121209199 121209199 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199420.3 -1 validated p.R860Q 1.000 140 0% 79 25.3% 1 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL FBXO40 51725 genome.wustl.edu 37 3 121341741 121341741 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016298.3 +1 validated p.P489S 1.000 92 0% 60 28.3% 0 - benign(0.09) tolerated(0.66) neutral(0.009) NULL GOLGB1 2804 genome.wustl.edu 37 3 121413677 121413677 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004487.3 -1 validated p.K1893T 0.036 164 0% 190 36.3% 15 40% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL GOLGB1 2804 genome.wustl.edu 37 3 121415404 121415404 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004487.3 -1 validated p.E1317D 1.000 146 0% 75 32% 10 30% benign(0.029) deleterious(0.04) neutral(0.350) NULL GOLGB1 2804 genome.wustl.edu 37 3 121415860 121415860 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004487.3 -1 validated p.K1165N 0.410 181 0% 189 29.1% 11 63.6% probably_damaging(0.981) deleterious(0.02) deleterious(0.808) superfamily_Prefoldin GOLGB1 2804 genome.wustl.edu 37 3 121417216 121417216 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004487.3 -1 validated p.E713D 1.000 147 0% 123 34.1% 3 0% benign(0.003) deleterious(0.03) neutral(0.364) NULL EAF2 55840 genome.wustl.edu 37 3 121591449 121591449 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018456.4 +1 validated p.S184R 1.000 78 0% 38 39.5% 17 35.2% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) NULL SLC15A2 6565 genome.wustl.edu 37 3 121634526 121634526 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021082.3 +1 validated p.M228T 1.000 133 0% 79 35.4% 14 57.1% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_PTR2,superfamily_MFS_gen_substrate_transporter CD86 942 genome.wustl.edu 37 3 121825172 121825172 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000478741 +1 known p.E172* 0.001 102 0% 43 27.9% 13 0% benign(0.177) tolerated(0.11) neutral(0.288) NULL CASR 846 genome.wustl.edu 37 3 121976107 121976107 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000388.3 +1 reviewed p.S122Y 1.000 105 0% 59 23.7% 0 - probably_damaging(0.992) tolerated(0.2) deleterious(0.496) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CASR 846 genome.wustl.edu 37 3 121980485 121980485 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000388.3 +1 reviewed p.I201 0.648 84 0% 65 23.1% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CASR 846 genome.wustl.edu 37 3 121980561 121980561 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000388.3 +1 reviewed p.R227* 1.000 102 1% 69 34.8% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I WDR5B 54554 genome.wustl.edu 37 3 122134001 122134001 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019069.3 -1 reviewed p.S125 1.000 154 0% 116 25.9% 4 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KPNA1 3836 genome.wustl.edu 37 3 122145714 122145714 + RNA SNP C C T rs139115078 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026698.1 -1 reviewed NULL 1.000 58 0% 24 45.8% 40 30% - - - - KPNA1 3836 genome.wustl.edu 37 3 122146540 122146540 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002264.3 -1 reviewed p.I425T 1.000 84 0% 58 32.8% 29 55.1% benign(0.104) deleterious(0.01) neutral(0.414) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat KPNA1 3836 genome.wustl.edu 37 3 122172805 122172805 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002264.3 -1 reviewed p.S159Y 1.000 168 0% 78 20.5% 20 20% benign(0.293) deleterious(0) deleterious(0.535) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat PARP9 83666 genome.wustl.edu 37 3 122255139 122255139 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031458.2 -1 validated p.K687N 0.958 167 0% 110 30.9% 59 32.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PARP,superfamily_ADP-ribosylation DTX3L 151636 genome.wustl.edu 37 3 122287954 122287954 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138287.3 +1 validated p.E340K 0.000 60 0% 65 35.4% 13 46.1% benign(0.002) tolerated(0.09) neutral(0.296) NULL PARP15 165631 genome.wustl.edu 37 3 122354899 122354899 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113523.1 +1 validated p.F663L 0.834 166 0% 66 28.8% 5 0% possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) HMMPfam_PARP,superfamily_ADP-ribosylation PARP14 54625 genome.wustl.edu 37 3 122419063 122419063 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017554.2 +1 validated p.F554L 0.334 84 0% 42 28.6% 7 85.7% benign(0.003) tolerated(1) - NULL HSPBAP1 79663 genome.wustl.edu 37 3 122496715 122496715 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024610.4 -1 provisional p.E35* 1.000 208 0% 322 31.7% 9 33.3% - - - superfamily_Clavaminate synthase-like SEMA5B 54437 genome.wustl.edu 37 3 122632413 122632413 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031702.2 -1 validated p.E750K 1.000 15 0% 20 30% 1 100% probably_damaging(0.998) tolerated(0.22) deleterious(0.516) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat SEMA5B 54437 genome.wustl.edu 37 3 122642463 122642463 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031702.2 -1 validated e9+1 1.000 169 0% 311 30.2% 0 - - - - - ADCY5 111 genome.wustl.edu 37 3 123014951 123014951 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183357.1 -1 validated p.D1015N 1.000 36 0% 58 24.1% 7 71.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MYLK 4638 genome.wustl.edu 37 3 123426687 123426687 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053025.3 -1 reviewed p.F768 0.143 64 0% 57 19.3% 3 66.6% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KALRN 8997 genome.wustl.edu 37 3 124053223 124053223 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024660.3 +1 reviewed p.L508 0.999 22 0% 13 30.8% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat KALRN 8997 genome.wustl.edu 37 3 124386002 124386002 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000354186 +1 known p.S2193Y 1.000 142 0% 190 33.2% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KALRN 8997 genome.wustl.edu 37 3 124438127 124438127 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000354186 +1 known p.G2893* 1.000 47 0% 55 23.6% 2 0% probably_damaging(0.996) tolerated(0.14) deleterious(0.711) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MUC13 56667 genome.wustl.edu 37 3 124627180 124627180 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033049.2 -1 validated p.T450 0.000 95 0% 68 35.3% 0 - - - - NULL ALDH1L1 10840 genome.wustl.edu 37 3 125822642 125822642 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012190.2 -1 reviewed p.E901K 0.999 50 0% 81 35.8% 2 50% probably_damaging(1) tolerated(0.18) deleterious(0.556) superfamily_Aldehyde_DH/Histidinol_DH KLF15 28999 genome.wustl.edu 37 3 126062651 126062651 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014079.3 -1 validated p.F390 1.000 32 0% 59 30.5% 14 42.8% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PLXNA1 5361 genome.wustl.edu 37 3 126747140 126747140 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032242.3 +1 validated p.G1519 0.717 16 0% 33 18.2% 69 15.9% - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl ACAD9 28976 genome.wustl.edu 37 3 128612493 128612493 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014049.4 +1 reviewed p.E114* 1.000 60 0% 41 26.8% 18 11.1% - - - HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM ACAD9 28976 genome.wustl.edu 37 3 128622958 128622958 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014049.4 +1 reviewed p.E338* 1.000 88 0% 143 26.6% 25 8% - - - HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like ACAD9 28976 genome.wustl.edu 37 3 128627037 128627037 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014049.4 +1 reviewed p.E430* 1.000 56 0% 77 24.7% 51 11.7% - - - HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like MBD4 8930 genome.wustl.edu 37 3 129156756 129156756 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003925.1 -1 reviewed p.E48* 0.216 270 0% 424 26.4% 17 35.2% - - - NULL COL6A5 256076 genome.wustl.edu 37 3 130107607 130107607 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153264.5 +1 validated p.L682 0.148 63 0% 24 33.3% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130113971 130113971 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153264.5 +1 validated p.K1077N 0.180 135 0% 51 27.5% 0 - possibly_damaging(0.655) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130122471 130122471 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153264.5 +1 validated p.G1416S 1.000 148 0% 97 35.1% 0 - probably_damaging(1) - - HMMPfam_Collagen COL6A5 256076 genome.wustl.edu 37 3 130141609 130141609 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153264.5 +1 validated p.G1695* 1.000 223 0% 63 36.5% 0 - - - - HMMPfam_Collagen COL6A5 256076 genome.wustl.edu 37 3 130159276 130159276 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153264.5 +1 validated p.F2032V 0.352 108 0% 44 34.1% 0 - probably_damaging(0.978) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A6 131873 genome.wustl.edu 37 3 130289671 130289671 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102608.1 +1 provisional p.R804L 0.998 102 0% 62 25.8% 0 - probably_damaging(0.999) - - superfamily_vWA-like COL6A6 131873 genome.wustl.edu 37 3 130300439 130300439 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102608.1 +1 provisional p.V1194 1.000 198 0% 120 41.7% 0 - - - - HMMSmart_SM00327,superfamily_vWA-like COL6A6 131873 genome.wustl.edu 37 3 130368196 130368196 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102608.1 +1 provisional p.E1841D 0.052 47 0% 36 19.4% 0 - benign(0.001) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ATP2C1 27032 genome.wustl.edu 37 3 130699426 130699426 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001486.1 +1 reviewed p.A581D 1.000 202 0% 64 31.2% 84 42.8% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ATP2C1 27032 genome.wustl.edu 37 3 130714928 130714928 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001486.1 +1 reviewed p.K700T 1.000 90 0% 55 36.4% 92 44.5% benign(0.17) tolerated(0.11) neutral(0.287) superfamily_Calcium ATPase transmembrane domain M ASTE1 28990 genome.wustl.edu 37 3 130743962 130743962 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014065.2 -1 validated p.F63L 1.000 121 0% 152 34.9% 3 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_XPG_N,superfamily_SSF88723 NEK11 79858 genome.wustl.edu 37 3 130873920 130873920 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024800.4 +1 reviewed p.K306R 0.786 262 0% 122 32.8% 1 100% possibly_damaging(0.595) tolerated(0.16) neutral(0.265) superfamily_Kinase_like DNAJC13 23317 genome.wustl.edu 37 3 132176120 132176120 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015268.3 +1 validated p.E453K 1.000 304 0% 134 25.4% 6 50% possibly_damaging(0.812) deleterious(0.02) deleterious(0.689) superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132193929 132193929 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015268.3 +1 validated p.E815D 1.000 81 0% 128 38.3% 4 25% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132203454 132203454 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015268.3 +1 validated p.R1069W 1.000 145 0% 74 36.5% 8 50% possibly_damaging(0.855) deleterious(0.03) deleterious(0.695) superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132209842 132209842 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015268.3 +1 validated p.E1190D 1.000 64 0% 28 14.3% 1 0% benign(0.218) deleterious(0.02) neutral(0.405) superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132215452 132215452 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015268.3 +1 validated p.E1367D 0.998 120 0% 59 30.5% 4 0% - - - superfamily_ARM repeat CCRL1 51554 genome.wustl.edu 37 3 132319269 132319269 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016557.2 +1 reviewed p.D10Y 0.999 68 0% 38 36.8% 0 - benign(0.079) deleterious(0.02) neutral(0.389) superfamily_SSF81321 CCRL1 51554 genome.wustl.edu 37 3 132319500 132319500 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016557.2 +1 reviewed p.D87Y 1.000 231 0% 98 22.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 ACAD11 84129 genome.wustl.edu 37 3 132345549 132345549 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032169.4 -1 validated p.L395I 0.471 226 0% 103 34% 13 61.5% benign(0.004) tolerated(0.08) neutral(0.300) superfamily_Acyl-CoA dehydrogenase NM domain-like UBA5 79876 genome.wustl.edu 37 3 132387767 132387767 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024818.3 +1 reviewed p.L135M 0.655 182 0% 137 24.8% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ThiF,superfamily_MoeB NPHP3 27031 genome.wustl.edu 37 3 132415580 132415580 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153240.3 -1 reviewed p.I722 0.000 102 0% 94 28.7% 6 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases BFSP2 8419 genome.wustl.edu 37 3 133185786 133185786 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003571.2 +1 reviewed p.E336* 1.000 20 0% 27 33.3% 5 0% - - - HMMPfam_Filament TOPBP1 11073 genome.wustl.edu 37 3 133329866 133329866 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007027.3 -1 reviewed p.Q1385H 1.000 287 0% 98 35.7% 33 21.2% benign(0.234) tolerated(0.15) neutral(0.265) NULL TOPBP1 11073 genome.wustl.edu 37 3 133331328 133331328 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007027.3 -1 reviewed p.R1314* 1.000 59 0% 46 32.6% 35 17.1% - - - HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain TF 7018 genome.wustl.edu 37 3 133473407 133473407 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001063.3 +1 reviewed p.R132* 0.068 80 0% 90 30% 1 0% - - - HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II SRPRB 58477 genome.wustl.edu 37 3 133526596 133526596 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021203.3 +1 reviewed p.T86S 1.000 216 0% 341 27.9% 93 60.2% benign(0.094) tolerated(0.56) neutral(0.013) HMMPfam_SRPRB,superfamily_P-loop containing nucleoside triphosphate hydrolases SRPRB 58477 genome.wustl.edu 37 3 133534544 133534544 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021203.3 +1 reviewed p.S174* 0.450 120 0% 107 23.4% 81 4.9% - - - HMMPfam_SRPRB,superfamily_P-loop containing nucleoside triphosphate hydrolases CEP63 80254 genome.wustl.edu 37 3 134267944 134267944 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025180.3 +1 reviewed p.E370* 1.000 95 0% 92 25% 7 57.1% - - - NULL EPHB1 2047 genome.wustl.edu 37 3 134920469 134920469 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004441.4 +1 reviewed p.D762N 1.000 119 0% 61 18% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MSL2 55167 genome.wustl.edu 37 3 135871459 135871459 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018133.3 -1 validated p.E88 1.000 252 0.4% 216 26.9% 23 47.8% - - - superfamily_SSF57850 DZIP1L 199221 genome.wustl.edu 37 3 137781810 137781810 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173543.2 -1 validated p.D718Y 0.996 85 0% 58 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DZIP1L 199221 genome.wustl.edu 37 3 137811348 137811348 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173543.2 -1 validated p.K249N 1.000 352 0.3% 249 26.1% 1 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL ESYT3 83850 genome.wustl.edu 37 3 138184183 138184183 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031913.3 +1 validated p.F363L 0.820 82 0% 67 16.4% 0 - possibly_damaging(0.76) tolerated(0.33) neutral(0.305) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CEP70 80321 genome.wustl.edu 37 3 138216877 138216877 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024491.2 -1 validated p.I576 1.000 226 0% 148 30.4% 15 73.3% - - - NULL CEP70 80321 genome.wustl.edu 37 3 138256090 138256090 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024491.2 -1 validated p.R189C 0.478 198 0% 185 33.5% 16 81.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CEP70 80321 genome.wustl.edu 37 3 138256147 138256147 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024491.2 -1 validated p.E170* 0.930 209 0% 192 32.8% 11 9% - - - NULL PIK3CB 5291 genome.wustl.edu 37 3 138417901 138417901 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006219.1 -1 provisional p.E540* 1.000 67 0% 25 32% 8 25% - - - HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold PIK3CB 5291 genome.wustl.edu 37 3 138453578 138453578 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006219.1 -1 provisional p.K290N 1.000 189 0% 113 38.1% 6 66.6% benign(0.268) tolerated(0.49) neutral(0.039) superfamily_SSF54236 PRR23B 389151 genome.wustl.edu 37 3 138739092 138739092 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013650.2 -1 validated p.E138K 0.000 51 0% 72 38.9% 0 - benign(0.14) tolerated(0.06) neutral(0.335) HMMPfam_DUF2476 MRPS22 56945 genome.wustl.edu 37 3 139074617 139074617 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020191.2 +1 reviewed p.G324 0.132 87 0% 55 27.3% 53 37.7% - - - NULL RBP2 5948 genome.wustl.edu 37 3 139195245 139195245 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004164.2 -1 reviewed p.G19 1.000 285 0% 112 25.9% 0 - - - - PatternScan_FABP,HMMPfam_Lipocalin,superfamily_Lipocalins CLSTN2 64084 genome.wustl.edu 37 3 139894845 139894845 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022131.2 +1 validated p.E54D 1.000 111 0% 68 26.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,superfamily_Cadherin-like TRIM42 287015 genome.wustl.edu 37 3 140407017 140407017 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152616.3 +1 reviewed p.R498H 0.106 101 0% 62 25.8% 0 - benign(0) tolerated(0.56) neutral(0.006) NULL ACPL2 92370 genome.wustl.edu 37 3 140997252 140997252 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037172.1 +1 validated p.D50N 0.967 123 0% 98 35.7% 9 33.3% benign(0) tolerated(0.1) neutral(0.286) NULL ZBTB38 253461 genome.wustl.edu 37 3 141161945 141161945 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080412.2 +1 validated p.E239* 0.068 43 0% 20 35% 17 41.1% - - - NULL TFDP2 7029 genome.wustl.edu 37 3 141697425 141697425 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006286.4 -1 reviewed p.N91K 1.000 222 0% 158 30.4% 15 53.3% benign(0.3) tolerated(0.13) neutral(0.346) HMMPfam_E2F_TDP,superfamily_SSF46785 PLS1 5357 genome.wustl.edu 37 3 142389866 142389866 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145319.1 +1 reviewed p.S89N 1.000 120 0% 84 29.8% 9 22.2% possibly_damaging(0.49) deleterious(0) deleterious(0.608) superfamily_SSF47473 TRPC1 7220 genome.wustl.edu 37 3 142496494 142496494 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003304.4 +1 validated p.R184Q 1.000 198 0% 80 28.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_TRP_2 TRPC1 7220 genome.wustl.edu 37 3 142499853 142499853 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003304.4 +1 validated p.I280 1.000 71 0% 25 32% 0 - - - - NULL TRPC1 7220 genome.wustl.edu 37 3 142525070 142525070 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003304.4 +1 validated p.R758I 1.000 61 0% 18 22.2% 0 - possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) NULL U2SURP 23350 genome.wustl.edu 37 3 142747332 142747332 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080415.1 +1 provisional p.S485Y 1.000 215 0% 65 40% 32 28.1% possibly_damaging(0.869) deleterious(0.01) deleterious(0.743) superfamily_Surp module (SWAP domain Pfam 01805) SLC9A9 285195 genome.wustl.edu 37 3 142987730 142987730 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173653.3 -1 reviewed p.P566H 0.995 155 0% 103 10.7% 4 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SLC9A9 285195 genome.wustl.edu 37 3 143186026 143186026 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173653.3 -1 reviewed p.R441Q 1.000 88 0% 59 40.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_H_Exchanger SLC9A9 285195 genome.wustl.edu 37 3 143297563 143297563 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173653.3 -1 reviewed p.S253F 1.000 110 0% 61 36.1% 0 - possibly_damaging(0.909) deleterious(0) deleterious(0.806) HMMPfam_Na_H_Exchanger PLOD2 5352 genome.wustl.edu 37 3 145796953 145796953 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182943.2 -1 reviewed p.R484C 1.000 177 0% 108 33.3% 57 52.6% possibly_damaging(0.938) tolerated(0.08) deleterious(0.683) NULL PLSCR4 57088 genome.wustl.edu 37 3 145924460 145924460 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020353.2 -1 validated p.F69L 0.646 68 0% 27 33.3% 3 66.6% unknown(0) tolerated(0.43) - NULL PLSCR2 57047 genome.wustl.edu 37 3 146173094 146173094 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020359.1 -1 provisional p.R85* 0.035 145 0.7% 78 29.5% 0 - - - - HMMPfam_Scramblase PLSCR2 57047 genome.wustl.edu 37 3 146177734 146177734 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000497985 -1 known p.I59 0.001 184 0% 108 25% 1 100% - - - NULL PLSCR1 5359 genome.wustl.edu 37 3 146243416 146243416 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000463777 -1 known p.S38* 1.000 113 0% 59 23.7% 27 37% - - - NULL PLSCR5 389158 genome.wustl.edu 37 3 146309630 146309630 + Silent SNP G G A rs182438758 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001085420.1 -1 validated p.Y164 1.000 101 0% 28 28.6% 0 - - - - HMMPfam_Scramblase ZIC4 84107 genome.wustl.edu 37 3 147109008 147109008 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000383075 -1 known p.F238 1.000 11 0% 26 53.8% 38 10.5% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZIC4 84107 genome.wustl.edu 37 3 147114000 147114000 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000383075 -1 known p.A109 0.702 26 0% 42 35.7% 38 26.3% - - - NULL CPB1 1360 genome.wustl.edu 37 3 148545810 148545810 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001871.2 +1 reviewed p.N31 0.000 147 0% 62 32.3% 0 - - - - HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors CPA3 1359 genome.wustl.edu 37 3 148600364 148600364 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001870.2 +1 reviewed p.F254V 1.000 86 0% 43 23.3% 1 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases HLTF 6596 genome.wustl.edu 37 3 148757852 148757852 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003071.3 -1 reviewed p.K823T 0.890 256 0% 250 19.6% 24 45.8% benign(0.15) tolerated(0.56) neutral(0.019) superfamily_P-loop containing nucleoside triphosphate hydrolases HLTF 6596 genome.wustl.edu 37 3 148793778 148793778 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003071.3 -1 reviewed p.K95N 1.000 226 0.4% 142 33.8% 12 58.3% possibly_damaging(0.893) tolerated(0.27) neutral(0.385) HMMPfam_HIRAN HPS3 84343 genome.wustl.edu 37 3 148872896 148872896 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032383.3 +1 reviewed p.S468L 1.000 170 0% 56 33.9% 10 30% possibly_damaging(0.807) deleterious(0.01) deleterious(0.710) NULL CP 1356 genome.wustl.edu 37 3 148916184 148916184 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000096.3 -1 reviewed p.K561 0.963 176 0% 107 31.8% 38 31.5% - - - superfamily_Cupredoxins TM4SF4 7104 genome.wustl.edu 37 3 149193692 149193692 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004617.2 +1 reviewed p.R86Q 0.993 166 0% 115 27.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_L6_membrane PFN2 5217 genome.wustl.edu 37 3 149686331 149686331 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002628.4 -1 reviewed p.E47* 1.000 118 0% 189 31.2% 157 12.7% - - - HMMPfam_Profilin,HMMSmart_SM00392,superfamily_Profilin (actin-binding protein) P2RY14 9934 genome.wustl.edu 37 3 150931428 150931428 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001081455.1 -1 reviewed p.S226L 0.024 148 0% 78 43.6% 0 - benign(0.177) tolerated(0.25) neutral(0.053) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR87 53836 genome.wustl.edu 37 3 151012288 151012288 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023915.3 -1 validated p.K249T 0.968 189 0% 89 32.6% 1 0% benign(0.02) deleterious(0.01) neutral(0.407) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR87 53836 genome.wustl.edu 37 3 151012744 151012744 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023915.3 -1 validated p.R97Q 0.240 153 0% 61 24.6% 0 - possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MED12L 116931 genome.wustl.edu 37 3 151112567 151112567 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053002.4 +1 reviewed p.S1876L 0.817 79 0% 37 32.4% 0 - benign(0.002) tolerated(0.1) neutral(0.286) NULL IGSF10 285313 genome.wustl.edu 37 3 151164891 151164891 + Nonsense_Mutation SNP C C A rs35983399 byCluster;byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178822.4 -1 validated p.E960* 0.000 141 0% 133 45.9% 0 - - - - NULL IGSF10 285313 genome.wustl.edu 37 3 151165903 151165903 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178822.4 -1 validated p.K622N 0.534 197 0% 146 24.7% 0 - probably_damaging(0.99) tolerated(0.18) deleterious(0.497) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin AADACL2 344752 genome.wustl.edu 37 3 151451863 151451863 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207365.3 +1 validated p.L14I 0.000 459 0% 212 32.5% 0 - unknown(0) tolerated(0.57) - NULL AADACL2 344752 genome.wustl.edu 37 3 151475326 151475326 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207365.3 +1 validated p.R384C 0.000 72 0% 43 27.9% 0 - benign(0.404) deleterious(0.04) deleterious(0.479) superfamily_alpha/beta-Hydrolases AADAC 13 genome.wustl.edu 37 3 151542456 151542456 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001086.2 +1 reviewed p.R146K 1.000 183 0% 89 32.6% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases SUCNR1 56670 genome.wustl.edu 37 3 151599310 151599310 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033050.4 +1 reviewed p.L327F 0.000 36 0% 19 57.9% 0 - possibly_damaging(0.943) deleterious(0) deleterious(0.832) NULL ARHGEF26 26084 genome.wustl.edu 37 3 153905608 153905608 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015595.3 +1 validated p.R541Q 0.979 83 0% 46 28.3% 1 0% probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) GPR149 344758 genome.wustl.edu 37 3 154147299 154147299 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001038705.1 -1 provisional p.L36I 0.503 59 0% 118 34.7% 0 - benign(0.243) deleterious(0) deleterious(0.469) NULL PLCH1 23007 genome.wustl.edu 37 3 155222389 155222389 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130960.1 -1 validated p.K541N 1.000 178 0% 132 34.1% 9 55.5% benign(0.119) deleterious(0.02) neutral(0.393) superfamily_PLC-like phosphodiesterases PLCH1 23007 genome.wustl.edu 37 3 155393822 155393822 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130960.1 -1 validated p.D3N 1.000 160 0% 60 18.3% 0 - possibly_damaging(0.68) deleterious(0) deleterious(0.687) NULL SLC33A1 9197 genome.wustl.edu 37 3 155551733 155551733 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004733.2 -1 reviewed p.P354H 1.000 136 0% 91 24.2% 18 61.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MFS general substrate transporter KCNAB1 7881 genome.wustl.edu 37 3 156175302 156175302 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172160.2 +1 reviewed p.E140K 0.995 200 0.5% 58 22.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase TIPARP 25976 genome.wustl.edu 37 3 156396356 156396356 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015508.4 +1 reviewed p.E290 1.000 60 0% 113 34.5% 2 0% - - - NULL CCNL1 57018 genome.wustl.edu 37 3 156867160 156867160 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020307.2 -1 validated p.S383I 1.000 317 0% 200 30.5% 55 47.2% possibly_damaging(0.861) tolerated(0.19) neutral(0.383) NULL VEPH1 79674 genome.wustl.edu 37 3 157146124 157146124 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024621.2 -1 validated p.K228T 0.001 228 0% 185 33.5% 6 66.6% benign(0.001) tolerated(0.57) neutral(0.006) NULL VEPH1 79674 genome.wustl.edu 37 3 157177919 157177919 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000468233 -1 known p.V194L 0.000 155 0% 65 13.8% 0 - benign(0.055) - - NULL SHOX2 6474 genome.wustl.edu 37 3 157820526 157820526 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006884.3 -1 reviewed p.D166N 1.000 111 0% 179 34.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like RSRC1 51319 genome.wustl.edu 37 3 157841705 157841705 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016625.2 +1 provisional p.R82Q 1.000 118 0% 84 34.5% 18 38.8% unknown(0) deleterious(0) - NULL LXN 56925 genome.wustl.edu 37 3 158384453 158384453 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020169.3 -1 reviewed p.K217N 0.049 202 0% 175 33.7% 11 9% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) HMMPfam_Latexin SMC4 10051 genome.wustl.edu 37 3 160135545 160135545 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002800.1 +1 validated p.S491L 0.726 67 0% 50 16% 28 21.4% benign(0.045) tolerated(0.19) neutral(0.052) HMMPfam_SMC_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC4 10051 genome.wustl.edu 37 3 160151484 160151484 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002800.1 +1 validated p.R1252* 1.000 74 0% 60 28.3% 27 59.2% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM59 286827 genome.wustl.edu 37 3 160156628 160156628 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173084.2 -1 validated p.L115* 1.000 124 0% 109 25.7% 4 0% - - - HMMPfam_zf-B_box,superfamily_B-box zinc-binding domain KPNA4 3840 genome.wustl.edu 37 3 160225943 160225943 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002268.3 -1 reviewed p.A442S 1.000 208 0% 102 29.4% 26 30.7% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_ARM repeat SPTSSB 165679 genome.wustl.edu 37 3 161063902 161063902 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040100.1 -1 validated p.Y70* 0.038 64 0% 25 44% 3 33.3% - - - NULL OTOL1 131149 genome.wustl.edu 37 3 161221432 161221432 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080440.1 +1 provisional p.K379T 0.363 124 0% 47 38.3% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like OTOL1 131149 genome.wustl.edu 37 3 161221648 161221648 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080440.1 +1 provisional p.G451E 0.994 58 0% 20 20% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like SI 6476 genome.wustl.edu 37 3 164724695 164724695 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001041.3 -1 reviewed p.E1439K 1.000 116 0% 56 17.9% 0 - possibly_damaging(0.897) tolerated(0.27) neutral(0.387) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164733743 164733743 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001041.3 -1 reviewed p.I1295 0.939 157 0% 107 22.4% 0 - - - - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164773077 164773077 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001041.3 -1 reviewed p.V473I 0.995 114 0% 54 29.6% 0 - possibly_damaging(0.925) tolerated(0.11) deleterious(0.645) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SLITRK3 22865 genome.wustl.edu 37 3 164907329 164907329 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014926.2 -1 validated p.N430K 1.000 119 0% 84 32.1% 0 - benign(0.429) tolerated(0.36) neutral(0.160) superfamily_SSF52058 SLITRK3 22865 genome.wustl.edu 37 3 164907988 164907988 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014926.2 -1 validated p.L211I 1.000 89 0% 87 16.1% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_SSF52058 BCHE 590 genome.wustl.edu 37 3 165547500 165547500 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000055.2 -1 reviewed p.G441V 0.805 91 0% 46 34.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_COesterase,superfamily_SSF53474 BCHE 590 genome.wustl.edu 37 3 165547698 165547698 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000055.2 -1 reviewed p.R375I 0.004 56 0% 20 25% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_COesterase,superfamily_SSF53474 ZBBX 79740 genome.wustl.edu 37 3 166960345 166960345 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024687.2 -1 validated p.D742Y 0.002 172 0% 89 32.6% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL ZBBX 79740 genome.wustl.edu 37 3 167000227 167000227 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024687.2 -1 validated p.E646* 0.000 128 0% 102 27.5% 0 - - - - NULL ZBBX 79740 genome.wustl.edu 37 3 167051693 167051693 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024687.2 -1 validated p.E203D 0.000 290 0% 77 16.9% 0 - benign(0.031) tolerated(0.32) neutral(0.026) NULL WDR49 151790 genome.wustl.edu 37 3 167293815 167293815 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178824.3 -1 provisional p.S126L 0.997 140 0% 54 31.5% 0 - probably_damaging(0.963) tolerated(0.14) deleterious(0.655) NULL PDCD10 11235 genome.wustl.edu 37 3 167413466 167413466 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007217.3 -1 reviewed p.E105K 1.000 424 0.2% 254 30.3% 41 24.3% benign(0) tolerated(0.93) - HMMPfam_DUF1241 LRRIQ4 344657 genome.wustl.edu 37 3 169555363 169555363 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080460.1 +1 provisional p.D543Y 1.000 113 0% 90 34.4% 0 - unknown(0) tolerated(0.06) - NULL SAMD7 344658 genome.wustl.edu 37 3 169646300 169646300 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182610.2 +1 provisional p.Q325H 1.000 148 0% 159 31.4% 0 - benign(0.006) tolerated(0.29) neutral(0.029) HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology TNIK 23043 genome.wustl.edu 37 3 170801980 170801980 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015028.2 -1 validated p.R1045* 1.000 164 0% 94 29.8% 0 - - - - HMMSmart_SM00036 TNIK 23043 genome.wustl.edu 37 3 170825889 170825889 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015028.2 -1 validated p.E783* 1.000 112 0% 63 33.3% 0 - - - - NULL PLD1 5337 genome.wustl.edu 37 3 171427438 171427438 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002662.3 -1 validated p.E325* 1.000 257 0% 203 34% 1 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like,superfamily_Phospholipase D/nuclease GHSR 2693 genome.wustl.edu 37 3 172162995 172162995 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198407.2 -1 reviewed p.D353Y 1.000 53 0% 73 37% 0 - possibly_damaging(0.859) deleterious(0.04) deleterious(0.681) superfamily_Family A G protein-coupled receptor-like GHSR 2693 genome.wustl.edu 37 3 172163068 172163068 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198407.2 -1 reviewed p.K328N 1.000 78 0% 131 26.7% 0 - probably_damaging(0.968) tolerated(0.4) neutral(0.426) superfamily_Family A G protein-coupled receptor-like NCEH1 57552 genome.wustl.edu 37 3 172351822 172351822 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020792.4 -1 validated p.L256I 1.000 139 0% 109 24.8% 11 27.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases NLGN1 22871 genome.wustl.edu 37 3 173322629 173322629 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014932.2 +1 reviewed p.L81I 1.000 148 0% 46 30.4% 0 - benign(0.125) deleterious(0.01) neutral(0.416) HMMPfam_COesterase,superfamily_SSF53474 NLGN1 22871 genome.wustl.edu 37 3 173993173 173993173 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014932.2 +1 reviewed p.R239 1.000 108 0% 84 34.5% 0 - - - - HMMPfam_COesterase,superfamily_SSF53474 NAALADL2 254827 genome.wustl.edu 37 3 175042084 175042084 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207015.2 +1 validated p.D354Y 1.000 148 0% 98 19.4% 19 36.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Transferrin receptor ectodomain apical domain TBL1XR1 79718 genome.wustl.edu 37 3 176768326 176768326 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024665.4 -1 reviewed p.G167D 1.000 111 0% 69 34.8% 22 68.1% possibly_damaging(0.844) deleterious(0.01) deleterious(0.729) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 TBL1XR1 79718 genome.wustl.edu 37 3 176768329 176768329 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024665.4 -1 reviewed p.R166Q 1.000 109 0% 69 36.2% 24 20.8% benign(0.128) deleterious(0.04) neutral(0.359) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 PIK3CA 5290 genome.wustl.edu 37 3 178927439 178927439 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006218.2 +1 reviewed p.R401Q 1.000 201 0% 149 27.5% 7 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_C2,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB PIK3CA 5290 genome.wustl.edu 37 3 178937754 178937754 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006218.2 +1 reviewed p.Q643H 0.977 169 0% 53 26.4% 1 0% possibly_damaging(0.807) tolerated(0.06) deleterious(0.627) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold PIK3CA 5290 genome.wustl.edu 37 3 178951992 178951992 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006218.2 +1 reviewed p.F1016C 1.000 114 0% 37 37.8% 13 23% probably_damaging(0.988) tolerated(0.16) deleterious(0.497) HMMSmart_PI3Kc,superfamily_Kinase_like MFN1 55669 genome.wustl.edu 37 3 179107814 179107814 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033540.2 +1 reviewed p.R679C 1.000 115 0% 113 37.2% 35 45.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fzo_mitofusin GNB4 59345 genome.wustl.edu 37 3 179143986 179143986 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021629.3 -1 reviewed p.M1I 1.000 159 0% 54 38.9% 3 0% unknown(0) deleterious(0.01) - superfamily_WD40 repeat-like ACTL6A 86 genome.wustl.edu 37 3 179301201 179301201 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004301.3 +1 reviewed p.R363G 1.000 201 0% 139 23.7% 75 34.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain USP13 8975 genome.wustl.edu 37 3 179448032 179448032 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003940.2 +1 validated p.D382Y 1.000 206 0.5% 344 27.3% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_SSF54001 TTC14 151613 genome.wustl.edu 37 3 180321029 180321029 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133462.3 +1 validated p.S135Y 0.998 376 0% 634 28.7% 1 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) superfamily_Nucleic acid-binding proteins TTC14 151613 genome.wustl.edu 37 3 180323563 180323563 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133462.3 +1 validated p.F289L 1.000 93 0% 115 12.2% 0 - possibly_damaging(0.779) tolerated(0.09) deleterious(0.588) NULL CCDC39 339829 genome.wustl.edu 37 3 180337681 180337681 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181426.1 -1 validated p.I692 0.796 295 0% 103 32% 0 - - - - superfamily_Prefoldin CCDC39 339829 genome.wustl.edu 37 3 180359859 180359859 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181426.1 -1 validated p.R599Q 0.944 240 0% 188 21.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC39 339829 genome.wustl.edu 37 3 180359908 180359908 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181426.1 -1 validated p.L583I 1.000 208 0.5% 171 32.7% 0 - possibly_damaging(0.757) tolerated(0.23) neutral(0.321) NULL CCDC39 339829 genome.wustl.edu 37 3 180370047 180370047 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181426.1 -1 validated p.S313Y 0.782 157 0% 73 34.2% 0 - benign(0.019) tolerated(0.06) neutral(0.324) superfamily_Prefoldin FXR1 8087 genome.wustl.edu 37 3 180666201 180666201 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005087.2 +1 reviewed p.R113W 1.000 106 0% 52 48.1% 77 38.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Agenet FXR1 8087 genome.wustl.edu 37 3 180693112 180693112 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005087.2 +1 reviewed p.D539Y 1.000 89 0% 34 14.7% 32 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP11B 23200 genome.wustl.edu 37 3 182605446 182605446 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014616.1 +1 validated p.L930I 1.000 203 0% 137 24.8% 4 0% probably_damaging(0.974) tolerated(0.47) neutral(0.427) NULL MCF2L2 23101 genome.wustl.edu 37 3 182947543 182947543 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015078.2 -1 validated p.I652M 0.745 147 0% 138 34.1% 0 - possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) MCF2L2 23101 genome.wustl.edu 37 3 183028714 183028714 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015078.2 -1 validated p.D328N 1.000 116 0% 108 24.1% 0 - benign(0.001) tolerated(0.39) neutral(0.016) HMMSmart_SM00150,superfamily_Spectrin repeat MCF2L2 23101 genome.wustl.edu 37 3 183107517 183107517 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015078.2 -1 validated p.E43* 1.000 167 0% 75 12% 0 - - - - HMMSmart_SM00516 YEATS2 55689 genome.wustl.edu 37 3 183435531 183435531 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018023.4 +1 validated p.D65Y 1.000 101 0% 83 28.9% 2 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL ABCC5 10057 genome.wustl.edu 37 3 183643459 183643459 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005688.2 -1 reviewed p.L1366V 0.048 202 0% 176 33% 21 38% benign(0.019) tolerated(0.52) neutral(0.010) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases VWA5B2 90113 genome.wustl.edu 37 3 183951047 183951047 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138345.1 +1 provisional p.T131M 1.000 16 0% 40 30% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL VWA5B2 90113 genome.wustl.edu 37 3 183955029 183955029 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138345.1 +1 provisional p.R517W 1.000 39 0% 57 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_VWA,superfamily_SSF53300 PSMD2 5708 genome.wustl.edu 37 3 184025799 184025799 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002808.3 +1 reviewed p.R807Q 1.000 65 0% 99 42.4% 488 38.3% benign(0.117) deleterious(0.01) neutral(0.415) NULL THPO 7066 genome.wustl.edu 37 3 184093705 184093705 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000460.2 -1 reviewed p.R38C 1.000 109 0% 199 30.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_EPO_TPO,superfamily_4-helical cytokines,PatternScan_EPO_TPO VPS8 23355 genome.wustl.edu 37 3 184644409 184644409 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009921.2 +1 validated p.D868N 1.000 76 0% 60 40% 10 60% possibly_damaging(0.94) tolerated(0.09) deleterious(0.681) NULL EHHADH 1962 genome.wustl.edu 37 3 184910323 184910323 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001966.3 -1 reviewed p.E621 1.000 110 0.9% 43 41.9% 10 90% - - - HMMPfam_3HCDH,superfamily_6DGDH_C_like EHHADH 1962 genome.wustl.edu 37 3 184935987 184935987 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001966.3 -1 reviewed p.L169I 0.288 174 0% 226 26.5% 3 33.3% benign(0) tolerated(0.65) neutral(0.003) HMMPfam_ECH,superfamily_SSF52096 MAP3K13 9175 genome.wustl.edu 37 3 185161405 185161405 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004721.3 +1 reviewed p.R278C 1.000 142 0% 92 32.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAP3K13 9175 genome.wustl.edu 37 3 185191157 185191157 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004721.3 +1 reviewed p.R680W 1.000 69 0% 20 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SENP2 59343 genome.wustl.edu 37 3 185318610 185318610 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021627.2 +1 validated p.R139Q 0.991 141 0% 92 27.2% 7 42.8% possibly_damaging(0.867) tolerated(0.47) neutral(0.348) NULL SENP2 59343 genome.wustl.edu 37 3 185327081 185327081 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021627.2 +1 validated p.R222Q 1.000 137 0% 94 31.9% 9 22.2% possibly_damaging(0.867) tolerated(0.07) deleterious(0.655) NULL IGF2BP2 10644 genome.wustl.edu 37 3 185393145 185393145 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006548.4 -1 reviewed p.A337V 1.000 104 0% 63 25.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) IGF2BP2 10644 genome.wustl.edu 37 3 185407367 185407367 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006548.4 -1 reviewed p.K151N 1.000 41 0% 66 37.9% 0 - possibly_damaging(0.594) deleterious(0.03) deleterious(0.570) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ETV5 2119 genome.wustl.edu 37 3 185783730 185783730 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004454.2 -1 validated p.G261E 1.000 91 0% 55 21.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ETS_PEA3_N DGKG 1608 genome.wustl.edu 37 3 185990090 185990090 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001346.2 -1 reviewed p.I318S 1.000 151 0% 195 29.2% 0 - probably_damaging(0.996) tolerated(0.56) neutral(0.468) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain KNG1 3827 genome.wustl.edu 37 3 186460097 186460097 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102416.2 +1 reviewed p.D638N 0.122 90 0% 54 31.5% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL EIF4A2 1974 genome.wustl.edu 37 3 186503753 186503753 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001967.3 +1 validated p.E144* 1.000 99 0% 146 26% 241 22.4% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases SST 6750 genome.wustl.edu 37 3 187386906 187386906 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001048.3 -1 reviewed p.E100* 1.000 145 0% 216 36.6% 0 - - - - HMMPfam_Somatostatin BCL6 604 genome.wustl.edu 37 3 187449604 187449604 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130845.1 -1 reviewed p.T92 0.988 48 0% 88 28.4% 26 38.4% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB LPP 4026 genome.wustl.edu 37 3 188590443 188590443 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005578.3 +1 reviewed p.P534 0.008 179 0% 69 37.7% 9 22.2% - - - superfamily_Glucocorticoid receptor-like (DNA-binding domain) LEPREL1 55214 genome.wustl.edu 37 3 189675751 189675751 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018192.3 -1 validated p.E693* 1.000 364 0% 170 31.8% 3 66.6% - - - NULL IL1RAP 3556 genome.wustl.edu 37 3 190373677 190373677 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000317757 +1 known e10-1 1.000 79 0% 62 35.5% 0 - - - - - UTS2D 257313 genome.wustl.edu 37 3 190994622 190994622 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198152.3 -1 validated p.P72T 0.004 329 0% 183 21.3% 1 100% benign(0.013) tolerated(0.08) neutral(0.300) NULL CCDC50 152137 genome.wustl.edu 37 3 191087757 191087757 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178335.2 +1 reviewed p.R127I 0.989 86 0% 32 46.9% 40 35% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FGF12 2257 genome.wustl.edu 37 3 191888260 191888260 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021032.3 -1 reviewed p.P200 0.824 149 0% 69 26.1% 4 0% - - - HMMSmart_SM00442,superfamily_Cytokine ATP13A5 344905 genome.wustl.edu 37 3 193061806 193061806 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198505.2 -1 provisional p.D285Y 1.000 79 0% 61 14.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 ATP13A4 84239 genome.wustl.edu 37 3 193166071 193166071 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032279.2 -1 validated p.E692D 1.000 226 0% 182 33.5% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP13A4 84239 genome.wustl.edu 37 3 193232516 193232516 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032279.2 -1 validated p.E69* 1.000 63 0% 67 31.3% 0 - - - - NULL OPA1 4976 genome.wustl.edu 37 3 193355804 193355804 + Nonsense_Mutation SNP C C T rs104893752 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130837.2 +1 reviewed p.R367* 1.000 297 0% 192 38% 7 0% - - - HMMPfam_Dynamin_N,HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases ATP13A3 79572 genome.wustl.edu 37 3 194151942 194151942 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024524.3 -1 validated p.K812T 0.779 92 0% 90 33.3% 24 29.1% benign(0.389) tolerated(0.3) neutral(0.153) superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ENSG00000206600 0 genome.wustl.edu 37 3 194935552 194935552 + RNA SNP C C T rs192900678 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000383873 +1 novel NULL 0.000 30 0% 57 28.1% 0 - - - - - MUC4 4585 genome.wustl.edu 37 3 195475886 195475886 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018406.5 -1 reviewed p.G5179 0.001 60 0% 104 16.3% 3 33.3% - - - NULL MUC4 4585 genome.wustl.edu 37 3 195490945 195490945 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018406.5 -1 reviewed p.G4544D 0.840 17 0% 21 52.4% 1 0% probably_damaging(0.994) - - HMMSmart_SM00216 MUC4 4585 genome.wustl.edu 37 3 195507455 195507455 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018406.5 -1 reviewed p.P3538T 0.000 139 0% 199 17.6% 1 0% possibly_damaging(0.864) - - NULL MUC4 4585 genome.wustl.edu 37 3 195512862 195512862 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018406.5 -1 reviewed p.S1863 0.053 290 0% 505 13.9% 1 0% - - - NULL MUC4 4585 genome.wustl.edu 37 3 195513605 195513605 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018406.5 -1 reviewed p.P1616S 0.016 172 7.6% 321 13.1% 1 0% possibly_damaging(0.948) - - NULL MUC4 4585 genome.wustl.edu 37 3 195517870 195517870 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018406.5 -1 reviewed p.S194Y 0.000 287 0% 310 31.9% 0 - possibly_damaging(0.901) tolerated(0.08) deleterious(0.657) NULL ZDHHC19 131540 genome.wustl.edu 37 3 195925262 195925262 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039617.1 -1 validated p.P278 0.000 23 0% 52 30.8% 1 100% - - - NULL ZDHHC19 131540 genome.wustl.edu 37 3 195937536 195937536 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039617.1 -1 validated p.F73L 0.994 61 0% 145 30.3% 0 - benign(0.001) tolerated(1) - NULL UBXN7 26043 genome.wustl.edu 37 3 196083616 196083616 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015562.1 -1 validated p.I470M 1.000 173 0% 130 25.4% 14 42.8% benign(0.069) tolerated(0.21) neutral(0.048) HMMPfam_UBX,HMMSmart_SM00166,superfamily_Ubiquitin-like UBXN7 26043 genome.wustl.edu 37 3 196088771 196088771 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015562.1 -1 validated p.R418W 1.000 181 0% 108 32.4% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UBX,HMMSmart_SM00166,superfamily_Ubiquitin-like WDR53 348793 genome.wustl.edu 37 3 196287941 196287941 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182627.1 -1 provisional p.S136P 1.000 148 0% 145 13.8% 6 16.6% possibly_damaging(0.658) tolerated(0.1) deleterious(0.519) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FBXO45 200933 genome.wustl.edu 37 3 196311172 196311172 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105573.1 +1 validated p.K282Q 1.000 169 0% 151 25.8% 17 52.9% benign(0) tolerated(0.52) neutral(0.009) HMMPfam_SPRY,HMMSmart_SPRY CEP19 84984 genome.wustl.edu 37 3 196435511 196435511 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032898.3 -1 validated p.K10N 1.000 167 0% 291 11.3% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LRCH3 84859 genome.wustl.edu 37 3 197559119 197559119 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032773.2 +1 provisional p.E345* 1.000 124 0% 77 23.4% 6 33.3% - - - superfamily_SSF52058 ENSG00000186777 0 genome.wustl.edu 37 4 265317 265317 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000414523 -1 known e6-1 1.000 161 0% 209 29.7% 0 - benign(0.032) tolerated(0.06) neutral(0.324) - ZNF732 654254 genome.wustl.edu 37 4 265585 265585 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137608.1 -1 provisional p.R354I 0.159 81 0% 96 22.9% 0 - benign(0.041) tolerated(0.42) neutral(0.017) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF48695,superfamily_SSF57667 ZNF732 654254 genome.wustl.edu 37 4 266312 266312 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137608.1 -1 provisional p.E112* 0.002 186 0% 169 26% 0 - - - - NULL ZNF732 654254 genome.wustl.edu 37 4 289247 289247 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137608.1 -1 provisional p.E69V 0.207 304 0% 229 32.3% 0 - benign(0.005) tolerated(0.26) neutral(0.034) NULL ZNF141 7700 genome.wustl.edu 37 4 366743 366743 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000240499 +1 known p.F173V 0.504 127 0% 123 30.1% 3 33.3% possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) superfamily_SSF57667 ZNF721 170960 genome.wustl.edu 37 4 437198 437198 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133474.2 -1 validated p.R353I 0.219 193 0% 128 28.1% 34 44.1% benign(0.16) tolerated(0.2) neutral(0.064) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 437533 437533 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133474.2 -1 validated p.K241N 0.132 146 0% 113 30.1% 18 55.5% possibly_damaging(0.62) tolerated(0.54) neutral(0.224) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PDE6B 5158 genome.wustl.edu 37 4 650074 650074 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000283.3 +1 reviewed p.K367T 0.034 231 0% 489 12.5% 1 100% benign(0) tolerated(0.6) neutral(0.004) HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like KIAA1530 57654 genome.wustl.edu 37 4 1377703 1377703 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020894.2 +1 validated p.R671C 0.778 42 0% 99 29.3% 8 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FGFR3 2261 genome.wustl.edu 37 4 1806650 1806650 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000142.4 +1 reviewed p.E456K 1.000 31 0% 39 30.8% 5 20% unknown(0) deleterious(0) - NULL HAUS3 79441 genome.wustl.edu 37 4 2241802 2241802 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024511.5 -1 provisional p.K291T 0.998 128 0% 211 32.2% 8 37.5% benign(0.028) tolerated(0.22) neutral(0.044) NULL HAUS3 79441 genome.wustl.edu 37 4 2241823 2241823 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024511.5 -1 provisional p.S284L 0.047 131 0% 199 30.7% 13 30.7% benign(0) tolerated(0.38) neutral(0.018) NULL ADD1 118 genome.wustl.edu 37 4 2927770 2927770 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014189.2 +1 reviewed p.E629* 0.472 52 0% 101 26.7% 76 21% - - - NULL GRK4 2868 genome.wustl.edu 37 4 2986263 2986263 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182982.2 +1 reviewed p.R26C 1.000 54 0% 54 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GRK4 2868 genome.wustl.edu 37 4 2994007 2994007 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182982.2 +1 reviewed p.F109L 1.000 214 0% 123 38.2% 1 0% benign(0.36) tolerated(0.21) neutral(0.159) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS GRK4 2868 genome.wustl.edu 37 4 3021546 3021546 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182982.2 +1 reviewed p.R307I 1.000 114 0% 119 29.4% 2 0% probably_damaging(0.997) tolerated(0.38) deleterious(0.484) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LRPAP1 4043 genome.wustl.edu 37 4 3516638 3516638 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002337.2 -1 validated p.F284 0.759 95 0% 158 29.7% 403 33.4% - - - HMMPfam_Alpha-2-MRAP_C OTOP1 133060 genome.wustl.edu 37 4 4199531 4199531 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177998.1 -1 provisional p.E344K 1.000 63 0% 35 22.9% 0 - possibly_damaging(0.808) tolerated(0.42) neutral(0.318) HMMPfam_DUF270 OTOP1 133060 genome.wustl.edu 37 4 4204196 4204196 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177998.1 -1 provisional p.G237C 1.000 117 0% 75 17.3% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_DUF270 STK32B 55351 genome.wustl.edu 37 4 5448489 5448489 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018401.1 +1 provisional p.L218 1.000 48 0% 33 27.3% 2 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STK32B 55351 genome.wustl.edu 37 4 5468522 5468522 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018401.1 +1 provisional p.K334N 1.000 80 0% 83 36.1% 0 - possibly_damaging(0.929) tolerated(0.23) neutral(0.417) NULL EVC2 132884 genome.wustl.edu 37 4 5693010 5693010 + Silent SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_147127.4 -1 reviewed p.I167 0.918 146 0% 148 31.8% 0 - - - - NULL JAKMIP1 152789 genome.wustl.edu 37 4 6043910 6043910 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099433.1 -1 validated p.K691N 1.000 232 0% 345 13.6% 0 - possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) NULL JAKMIP1 152789 genome.wustl.edu 37 4 6051573 6051573 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099433.1 -1 validated p.K645N 1.000 145 0% 245 33.9% 0 - possibly_damaging(0.605) deleterious(0) deleterious(0.654) NULL KIAA0232 9778 genome.wustl.edu 37 4 6862906 6862906 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100590.1 +1 validated p.E266A 0.997 75 0% 45 20% 9 88.8% benign(0.097) deleterious(0.02) neutral(0.391) NULL KIAA0232 9778 genome.wustl.edu 37 4 6864782 6864782 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100590.1 +1 validated p.E891D 0.007 91 0% 69 37.7% 10 30% benign(0) tolerated(0.27) neutral(0.034) NULL SORCS2 57537 genome.wustl.edu 37 4 7668893 7668893 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020777.2 +1 reviewed p.R372* 0.972 148 0% 198 36.9% 0 - - - - HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase SH3TC1 54436 genome.wustl.edu 37 4 8235127 8235127 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018986.3 +1 validated p.L1057M 1.000 79 0% 125 30.4% 17 11.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HTRA3 94031 genome.wustl.edu 37 4 8288439 8288439 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053044.2 +1 provisional p.D213N 0.754 64 0% 77 27.3% 19 10.5% benign(0.381) tolerated(0.33) neutral(0.145) HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases HTRA3 94031 genome.wustl.edu 37 4 8305930 8305930 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053044.2 +1 provisional p.A374T 0.588 91 0% 101 26.7% 24 0% benign(0) tolerated(0.57) neutral(0.006) HMMSmart_SM00228,superfamily_PDZ domain-like METTL19 152992 genome.wustl.edu 37 4 8470038 8470038 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152544.1 +1 provisional p.S239Y 0.000 31 0% 73 30.1% 6 50% possibly_damaging(0.91) deleterious(0.05) deleterious(0.708) NULL LOC650293 650293 genome.wustl.edu 37 4 8951693 8951693 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040071.1 +1 provisional p.L73I 0.002 105 0% 134 27.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 LOC100133128 100133128 genome.wustl.edu 37 4 9400981 9400981 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001720802.1 +1 model p.L18I 0.164 125 0% 120 18.3% 0 - - - - NULL LOC100288554 100288554 genome.wustl.edu 37 4 9423984 9423984 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342446.1 +1 model p.S31 0.223 240 0% 190 38.9% 0 - - - - NULL DRD5 1816 genome.wustl.edu 37 4 9784901 9784901 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000798.4 +1 reviewed p.N416 0.445 89 0% 147 34% 0 - - - - NULL ZNF518B 85460 genome.wustl.edu 37 4 10446713 10446713 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053042.2 -1 validated p.K414E 0.000 179 0% 169 27.2% 7 28.5% benign(0.001) tolerated(0.41) neutral(0.015) NULL CLNK 116449 genome.wustl.edu 37 4 10515153 10515153 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052964.2 -1 validated p.E281K 0.000 172 0% 77 36.4% 0 - benign(0.343) tolerated(0.14) neutral(0.357) superfamily_SH2 domain CPEB2 132864 genome.wustl.edu 37 4 15009149 15009149 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182485.2 +1 reviewed p.S191Y 1.000 95 0% 166 65.7% 6 100% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL CC2D2A 57545 genome.wustl.edu 37 4 15480424 15480424 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080522.2 +1 reviewed p.K39N 0.122 119 0% 85 27.1% 1 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL CC2D2A 57545 genome.wustl.edu 37 4 15558962 15558962 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080522.2 +1 reviewed p.F887L 1.000 77 0% 37 29.7% 0 - possibly_damaging(0.706) tolerated(0.08) deleterious(0.554) NULL CC2D2A 57545 genome.wustl.edu 37 4 15575941 15575941 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080522.2 +1 reviewed p.R1255* 0.981 177 0% 84 22.6% 1 0% - - - NULL FAM200B 285550 genome.wustl.edu 37 4 15690230 15690230 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145191.1 +1 validated p.R544* 0.367 77 0% 62 16.1% 5 0% - - - NULL CD38 952 genome.wustl.edu 37 4 15841676 15841676 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001775.2 +1 validated p.N229K 0.239 458 0% 420 24.8% 22 0% possibly_damaging(0.534) tolerated(0.06) deleterious(0.503) HMMPfam_Rib_hydrolayse,superfamily_ADP ribosyl cyclase-like CD38 952 genome.wustl.edu 37 4 15842114 15842114 + Silent SNP G G A rs140237964 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001775.2 +1 validated p.S264 0.000 96 0% 148 36.5% 8 0% - - - HMMPfam_Rib_hydrolayse,superfamily_ADP ribosyl cyclase-like FGFBP2 83888 genome.wustl.edu 37 4 15964110 15964110 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031950.3 -1 reviewed p.A215T 0.984 85 0% 75 38.7% 1 0% benign(0.425) tolerated(0.91) neutral(0.138) HMMPfam_FGF-BP1 PROM1 8842 genome.wustl.edu 37 4 16026840 16026840 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006017.2 -1 reviewed p.R202Q 0.012 157 0% 89 30.3% 14 42.8% possibly_damaging(0.464) tolerated(0.2) neutral(0.202) HMMPfam_Prominin LDB2 9079 genome.wustl.edu 37 4 16507539 16507539 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130834.1 -1 validated p.A320T 1.000 65 0% 32 31.2% 3 0% benign(0) deleterious(0) neutral(0.445) HMMPfam_LIM_bind NCAPG 64151 genome.wustl.edu 37 4 17819063 17819063 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022346.3 +1 validated p.N319H 0.231 114 0% 126 29.4% 13 46.1% benign(0.296) tolerated(0.58) neutral(0.097) superfamily_ARM-type_fold LCORL 254251 genome.wustl.edu 37 4 17886213 17886213 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000382226 -1 known p.E313D 1.000 149 0% 76 25% 0 - benign(0.246) tolerated(0.06) neutral(0.348) NULL SLIT2 9353 genome.wustl.edu 37 4 20619080 20619080 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004787.1 +1 provisional p.C1385 0.635 104 0% 59 33.9% 110 40% - - - HMMSmart_SM00181,superfamily_EGF/Laminin GBA3 57733 genome.wustl.edu 37 4 22749269 22749269 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020973.3 +1 validated p.R213* 0.808 136 0% 58 31% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases DHX15 1665 genome.wustl.edu 37 4 24577996 24577996 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001358.2 -1 reviewed p.R126Q 1.000 245 0% 229 31.9% 125 41.6% possibly_damaging(0.85) tolerated(0.13) deleterious(0.580) NULL CCDC149 91050 genome.wustl.edu 37 4 24824158 24824158 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130726.1 -1 validated p.L335V 1.000 182 0% 85 21.2% 2 0% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_DUF2353 SEL1L3 23231 genome.wustl.edu 37 4 25806296 25806296 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015187.3 -1 validated p.I548S 0.000 196 0% 122 31.1% 53 0% benign(0.004) deleterious(0) neutral(0.445) superfamily_HCP-like SEL1L3 23231 genome.wustl.edu 37 4 25821487 25821487 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015187.3 -1 validated p.E456* 0.852 122 0% 71 29.6% 41 0% - - - superfamily_HCP-like SEL1L3 23231 genome.wustl.edu 37 4 25849049 25849049 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015187.3 -1 validated p.K200N 0.998 97 0% 55 32.7% 55 47.2% possibly_damaging(0.487) deleterious(0) deleterious(0.607) NULL CCKAR 886 genome.wustl.edu 37 4 26490892 26490892 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000730.2 -1 reviewed p.F109 0.987 114 0% 93 35.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TBC1D19 55296 genome.wustl.edu 37 4 26622234 26622234 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018317.2 +1 validated e4-1 1.000 170 0.6% 77 29.9% 0 - - - - - ARAP2 116984 genome.wustl.edu 37 4 36152575 36152575 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015230.2 -1 reviewed p.I948 1.000 235 0% 111 27% 2 50% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARAP2 116984 genome.wustl.edu 37 4 36189076 36189076 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015230.2 -1 reviewed p.E559* 1.000 113 0% 46 39.1% 4 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARAP2 116984 genome.wustl.edu 37 4 36214942 36214942 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015230.2 -1 reviewed e3-1 1.000 62 0% 44 36.4% 1 100% - - - - ARAP2 116984 genome.wustl.edu 37 4 36230520 36230520 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015230.2 -1 reviewed p.E197* 0.000 77 0% 35 42.9% 1 0% - - - NULL DTHD1 401124 genome.wustl.edu 37 4 36285675 36285675 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000456874 +1 known p.E112* 1.000 15 0% 19 31.6% 0 - - - - NULL KIAA1239 57495 genome.wustl.edu 37 4 37445492 37445492 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144990.1 +1 validated p.D628Y 1.000 72 0% 56 35.7% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL KIAA1239 57495 genome.wustl.edu 37 4 37447351 37447351 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144990.1 +1 validated p.I1247 0.046 66 0% 61 39.3% 0 - - - - superfamily_WD40_like KIAA1239 57495 genome.wustl.edu 37 4 37447868 37447868 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144990.1 +1 validated p.A1420S 1.000 42 0% 21 38.1% 0 - probably_damaging(0.992) tolerated(0.06) deleterious(0.770) HMMSmart_WD40,superfamily_WD40_like PGM2 55276 genome.wustl.edu 37 4 37850231 37850231 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018290.3 +1 validated p.K457N 1.000 137 0% 81 24.7% 27 25.9% benign(0.001) tolerated(0.13) neutral(0.253) superfamily_A-D-PHexomutase_a/b/a-I/II/III TLR10 81793 genome.wustl.edu 37 4 38774898 38774898 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017388.1 -1 reviewed p.R772* 0.732 136 0% 54 37% 2 0% - - - HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR TLR10 81793 genome.wustl.edu 37 4 38775004 38775004 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017388.1 -1 reviewed p.Y736* 0.964 141 0% 71 25.4% 1 0% - - - HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR TLR1 7096 genome.wustl.edu 37 4 38799897 38799897 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003263.3 -1 reviewed p.D186Y 0.000 85 0% 54 31.5% 5 0% benign(0.313) tolerated(0.27) neutral(0.131) superfamily_L domain-like TLR1 7096 genome.wustl.edu 37 4 38800023 38800023 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003263.3 -1 reviewed p.L144M 0.857 100 0% 65 26.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like TLR6 10333 genome.wustl.edu 37 4 38829730 38829730 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006068.3 -1 validated p.L455 0.999 191 0% 263 29.3% 2 0% - - - HMMPfam_LRR_1,superfamily_SSF52058 FAM114A1 92689 genome.wustl.edu 37 4 38933984 38933984 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138389.2 +1 validated p.K484N 1.000 74 0% 91 30.8% 10 20% benign(0.058) tolerated(0.15) neutral(0.244) NULL WDR19 57728 genome.wustl.edu 37 4 39247054 39247054 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025132.3 +1 reviewed p.A904V 1.000 102 0% 70 28.6% 13 46.1% possibly_damaging(0.853) tolerated(0.13) deleterious(0.581) HMMPfam_Clathrin,superfamily_TPR-like RFC1 5981 genome.wustl.edu 37 4 39308295 39308295 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002913.3 -1 reviewed p.D638Y 1.000 102 1% 74 24.3% 20 45% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF52540 KLB 152831 genome.wustl.edu 37 4 39448458 39448458 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175737.3 +1 validated p.S704 0.000 16 0% 25 40% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat KLB 152831 genome.wustl.edu 37 4 39448806 39448806 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175737.3 +1 validated p.F820L 1.000 15 0% 22 40.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat KLB 152831 genome.wustl.edu 37 4 39450003 39450003 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175737.3 +1 validated p.F944L 1.000 64 0% 125 28.8% 0 - benign(0.08) tolerated(1) neutral(0.005) superfamily_Glyco_hydro_cat KLB 152831 genome.wustl.edu 37 4 39450082 39450082 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175737.3 +1 validated p.N971H 0.000 113 0% 235 37.9% 0 - benign(0.313) tolerated(0.14) neutral(0.347) superfamily_Glyco_hydro_cat PDS5A 23244 genome.wustl.edu 37 4 39911951 39911951 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100399.1 -1 reviewed p.D334Y 1.000 102 0% 109 23.9% 22 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat PDS5A 23244 genome.wustl.edu 37 4 39928440 39928440 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100399.1 -1 reviewed p.E128D 1.000 119 0% 39 15.4% 4 25% possibly_damaging(0.756) deleterious(0.04) deleterious(0.628) superfamily_ARM repeat N4BP2 55728 genome.wustl.edu 37 4 40099126 40099126 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018177.3 +1 reviewed p.E56* 1.000 200 0% 188 11.2% 1 100% - - - superfamily_UBA-like N4BP2 55728 genome.wustl.edu 37 4 40122717 40122717 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018177.3 +1 reviewed p.A996S 0.000 49 0% 28 25% 1 0% benign(0.024) tolerated(0.11) neutral(0.273) NULL APBB2 323 genome.wustl.edu 37 4 41016385 41016385 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173075.4 -1 reviewed p.F17C 1.000 239 0% 183 24% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UCHL1 7345 genome.wustl.edu 37 4 41270025 41270025 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004181.4 +1 reviewed p.E203* 0.999 88 0% 71 28.2% 46 13% - - - HMMPfam_Peptidase_C12,superfamily_SSF54001 LIMCH1 22998 genome.wustl.edu 37 4 41663448 41663448 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014988.2 +1 validated p.E631D 0.965 164 0% 101 37.6% 10 30% possibly_damaging(0.706) deleterious(0.01) deleterious(0.659) NULL DCAF4L1 285429 genome.wustl.edu 37 4 41983828 41983828 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029955.3 +1 validated p.R7* 0.897 62 1.6% 51 13.7% 0 - - - - NULL BEND4 389206 genome.wustl.edu 37 4 42122026 42122026 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000425883 -1 known p.H400N 1.000 86 0% 69 29% 0 - - - - NULL BEND4 389206 genome.wustl.edu 37 4 42145872 42145872 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207406.3 -1 validated p.N209 0.000 135 0% 119 35.3% 0 - - - - NULL ATP8A1 10396 genome.wustl.edu 37 4 42526835 42526835 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006095.2 -1 reviewed p.E584D 1.000 182 0% 76 14.5% 3 0% benign(0.002) tolerated(0.42) neutral(0.014) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP8A1 10396 genome.wustl.edu 37 4 42583714 42583714 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006095.2 -1 reviewed p.R253Q 1.000 111 0% 80 30% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A ATP8A1 10396 genome.wustl.edu 37 4 42592881 42592881 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006095.2 -1 reviewed p.V157 1.000 113 0% 95 27.4% 0 - - - - HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A KCTD8 386617 genome.wustl.edu 37 4 44176823 44176823 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198353.2 -1 validated p.Q469L 1.000 175 0% 204 34.8% 0 - benign(0.176) deleterious(0) neutral(0.461) NULL COMMD8 54951 genome.wustl.edu 37 4 47455162 47455162 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017845.3 -1 provisional p.E149* 0.999 155 0% 153 32% 13 7.6% - - - HMMPfam_HCaRG ATP10D 57205 genome.wustl.edu 37 4 47514773 47514773 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020453.3 +1 validated p.V72 1.000 121 0% 55 21.8% 1 100% - - - NULL CORIN 10699 genome.wustl.edu 37 4 47625750 47625750 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006587.2 -1 reviewed p.R793H 1.000 108 0% 57 22.8% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Trypsin-like serine proteases,superfamily_SRCR-like CNGA1 1259 genome.wustl.edu 37 4 47938583 47938583 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142564.1 -1 reviewed p.R712Q 1.000 77 0% 44 29.5% 1 0% possibly_damaging(0.916) deleterious(0.02) deleterious(0.750) NULL CNGA1 1259 genome.wustl.edu 37 4 47939119 47939119 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142564.1 -1 reviewed p.E533 0.998 143 0% 99 25.3% 2 50% - - - superfamily_cAMP-binding domain-like CNGA1 1259 genome.wustl.edu 37 4 47945243 47945243 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142564.1 -1 reviewed p.K204T 0.885 180 0% 74 31.1% 0 - benign(0.122) tolerated(0.53) neutral(0.018) NULL TXK 7294 genome.wustl.edu 37 4 48114373 48114373 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003328.2 -1 validated p.I111L 0.767 281 0% 153 29.4% 17 64.7% benign(0.019) tolerated(0.2) neutral(0.050) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 TEC 7006 genome.wustl.edu 37 4 48147595 48147595 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003215.2 -1 reviewed p.E361D 0.983 116 0% 72 27.8% 16 18.7% benign(0) tolerated(1) - superfamily_Protein kinase-like (PK-like) TEC 7006 genome.wustl.edu 37 4 48169838 48169838 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003215.2 -1 reviewed p.E210* 1.000 230 0% 152 30.3% 7 14.2% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,superfamily_SH2 domain FRYL 285527 genome.wustl.edu 37 4 48512919 48512919 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015030.1 -1 validated p.F2743C 1.000 86 0% 33 18.2% 29 58.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48622714 48622714 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015030.1 -1 validated p.N86H 1.000 132 0% 90 18.9% 5 60% probably_damaging(0.997) tolerated(0.07) deleterious(0.785) NULL CWH43 80157 genome.wustl.edu 37 4 48990671 48990671 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025087.2 +1 validated p.R74M 0.992 172 0% 273 32.6% 21 71.4% possibly_damaging(0.716) tolerated(0.1) deleterious(0.545) NULL CWH43 80157 genome.wustl.edu 37 4 49000536 49000536 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025087.2 +1 validated p.R258H 0.016 443 0% 255 33.7% 36 33.3% benign(0) tolerated(0.56) neutral(0.006) NULL USP46 64854 genome.wustl.edu 37 4 53463883 53463883 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022832.3 -1 validated p.E342* 1.000 131 0% 85 30.6% 8 37.5% - - - HMMPfam_UCH,superfamily_Cysteine proteinases SCFD2 152579 genome.wustl.edu 37 4 53773639 53773639 + Frame_Shift_Del DEL A A - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152540.3 -1 validated p.F609fs 0.921 - - - - - - - - - superfamily_Sec1/munc18-like (SM) proteins SCFD2 152579 genome.wustl.edu 37 4 54231937 54231937 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152540.3 -1 validated p.E58* 1.000 45 0% 41 36.6% 9 0% - - - NULL FIP1L1 81608 genome.wustl.edu 37 4 54310240 54310240 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030917.3 +1 reviewed p.R419C 1.000 239 0% 154 35.7% 76 44.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC441016 441016 genome.wustl.edu 37 4 54442449 54442449 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_496693.4 +1 model p.F239 0.104 36 0% 24 41.7% 0 - - - - HMMPfam_HCaRG LOC441016 441016 genome.wustl.edu 37 4 54442450 54442450 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_496693.4 +1 model p.E240K 0.111 38 0% 24 33.3% 0 - - - - HMMPfam_HCaRG GSX2 170825 genome.wustl.edu 37 4 54968021 54968021 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133267.2 +1 validated p.R283C 0.997 47 0% 63 34.9% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL PDGFRA 5156 genome.wustl.edu 37 4 55131211 55131211 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006206.4 +1 reviewed p.E252* 0.779 140 0% 90 34.4% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PDGFRA 5156 genome.wustl.edu 37 4 55143644 55143644 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006206.4 +1 reviewed p.V626M 1.000 258 0% 184 32.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP PDGFRA 5156 genome.wustl.edu 37 4 55144567 55144567 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006206.4 +1 reviewed p.D681N 1.000 161 0% 128 38.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PDGFRA 5156 genome.wustl.edu 37 4 55146636 55146636 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006206.4 +1 reviewed p.K770N 1.000 91 0% 50 34% 1 0% possibly_damaging(0.804) tolerated(0.49) neutral(0.313) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) KIT 3815 genome.wustl.edu 37 4 55561691 55561691 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000222.2 +1 reviewed p.P27 0.998 110 0% 47 38.3% 1 0% - - - NULL KIT 3815 genome.wustl.edu 37 4 55595547 55595547 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000222.2 +1 reviewed p.L679F 1.000 256 0% 104 26% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KIT 3815 genome.wustl.edu 37 4 55595593 55595593 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000222.2 +1 reviewed p.E695* 1.000 219 0% 77 23.4% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KIT 3815 genome.wustl.edu 37 4 55597561 55597561 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000222.2 +1 reviewed p.D737N 0.997 99 0% 41 26.8% 1 0% benign(0.281) deleterious(0.02) deleterious(0.469) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KDR 3791 genome.wustl.edu 37 4 55955605 55955605 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002253.2 -1 reviewed p.E1114* 1.000 229 0% 118 28% 1 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KDR 3791 genome.wustl.edu 37 4 55964319 55964319 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002253.2 -1 reviewed p.D832Y 1.000 88 0% 37 24.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Kinase_like KDR 3791 genome.wustl.edu 37 4 55970882 55970882 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002253.2 -1 reviewed p.D639Y 0.983 70 0% 42 38.1% 6 0% possibly_damaging(0.682) tolerated(0.23) neutral(0.284) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 KDR 3791 genome.wustl.edu 37 4 55976883 55976883 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002253.2 -1 reviewed p.T343 0.002 77 0% 26 23.1% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TMEM165 55858 genome.wustl.edu 37 4 56277897 56277897 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018475.3 +1 validated p.E108D 0.747 138 0% 70 32.9% 93 48.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0016,PatternScan_UPF0016 CLOCK 9575 genome.wustl.edu 37 4 56308641 56308641 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004898.2 -1 reviewed p.Q688R 1.000 178 0% 103 30.1% 7 42.8% possibly_damaging(0.677) tolerated(0.07) deleterious(0.560) NULL NMU 10874 genome.wustl.edu 37 4 56471455 56471455 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006681.2 -1 validated p.R141I 0.999 77 0% 104 31.7% 11 63.6% possibly_damaging(0.815) deleterious(0.01) deleterious(0.713) NULL EXOC1 55763 genome.wustl.edu 37 4 56759755 56759755 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024924.1 +1 reviewed p.R588C 1.000 93 0% 43 37.2% 23 52.1% possibly_damaging(0.847) tolerated(0.06) deleterious(0.647) HMMPfam_Sec3 EXOC1 55763 genome.wustl.edu 37 4 56762984 56762984 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024924.1 +1 reviewed p.A685 0.996 112 0% 46 10.9% 7 28.5% - - - HMMPfam_Sec3 CEP135 9662 genome.wustl.edu 37 4 56819341 56819341 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025009.3 +1 validated p.L68F 1.000 121 0% 195 25.6% 1 0% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL KIAA1211 57482 genome.wustl.edu 37 4 57179420 57179420 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020722.1 +1 validated p.E138K 1.000 103 0% 206 30.6% 0 - unknown(0) deleterious(0) - NULL KIAA1211 57482 genome.wustl.edu 37 4 57189595 57189595 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020722.1 +1 validated p.E1080D 0.996 83 0% 82 39% 2 0% probably_damaging(0.973) tolerated(0.21) neutral(0.459) NULL KIAA1211 57482 genome.wustl.edu 37 4 57193915 57193915 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020722.1 +1 validated p.A1216D 1.000 34 0% 33 39.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AASDH 132949 genome.wustl.edu 37 4 57211385 57211385 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181806.2 -1 validated p.D854Y 0.969 229 0% 168 36.9% 7 14.2% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_PQQ,superfamily_Quinoprotein alcohol dehydrogenase-like SRP72 6731 genome.wustl.edu 37 4 57342840 57342840 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006947.3 +1 validated p.L205R 1.000 171 0% 188 13.3% 44 13.6% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_TPR_1,superfamily_SSF48452 SRP72 6731 genome.wustl.edu 37 4 57352496 57352496 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006947.3 +1 validated p.F364L 1.000 68 0% 53 45.3% 56 46.4% benign(0.026) tolerated(0.41) neutral(0.016) superfamily_SSF48452 REST 5978 genome.wustl.edu 37 4 57797177 57797177 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005612.3 +1 reviewed p.S718Y 0.002 39 0% 25 32% 21 28.5% benign(0.214) tolerated(0.06) neutral(0.344) NULL REST 5978 genome.wustl.edu 37 4 57797926 57797926 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005612.3 +1 reviewed p.E968* 0.004 67 0% 35 20% 16 56.2% - - - NULL POLR2B 5431 genome.wustl.edu 37 4 57871515 57871515 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000938.1 +1 reviewed p.R335I 1.000 168 0% 132 28% 18 27.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR2B 5431 genome.wustl.edu 37 4 57876937 57876937 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000938.1 +1 reviewed p.K524N 1.000 133 0% 88 28.4% 36 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb2_3,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase LPHN3 23284 genome.wustl.edu 37 4 62801758 62801758 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015236.4 +1 reviewed p.R737Q 1.000 44 0% 34 35.3% 0 - possibly_damaging(0.929) tolerated(0.07) deleterious(0.695) superfamily_Family A G protein-coupled receptor-like LPHN3 23284 genome.wustl.edu 37 4 62813970 62813970 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000502815 +1 known p.T317A 0.725 126 0% 176 31.8% 1 0% - - - HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like LPHN3 23284 genome.wustl.edu 37 4 62903522 62903522 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015236.4 +1 reviewed p.S1154* 1.000 109 0% 59 25.4% 1 0% - - - HMMPfam_Latrophilin,superfamily_Family A G protein-coupled receptor-like TECRL 253017 genome.wustl.edu 37 4 65147267 65147267 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010874.4 -1 validated p.A281 0.995 93 0% 39 20.5% 0 - - - - NULL EPHA5 2044 genome.wustl.edu 37 4 66230813 66230813 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004439.5 -1 reviewed p.D720Y 1.000 221 0% 130 26.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) EPHA5 2044 genome.wustl.edu 37 4 66242774 66242774 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004439.5 -1 reviewed p.E600K 1.000 66 0% 40 37.5% 0 - benign(0.051) tolerated(0.3) neutral(0.032) NULL EPHA5 2044 genome.wustl.edu 37 4 66467408 66467408 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004439.5 -1 reviewed p.G287 1.000 79 0% 48 25% 0 - - - - PatternScan_RECEPTOR_TYR_KIN_V_2 UBA6 55236 genome.wustl.edu 37 4 68497439 68497439 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018227.5 -1 validated p.L749V 0.935 104 0% 156 30.1% 5 40% benign(0) tolerated(0.95) - HMMPfam_UBACT,superfamily_Activating enzymes of the ubiquitin-like proteins UBA6 55236 genome.wustl.edu 37 4 68534317 68534317 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018227.5 -1 validated p.E249* 1.000 269 0% 126 28.6% 5 0% - - - superfamily_Activating enzymes of the ubiquitin-like proteins TMPRSS11D 9407 genome.wustl.edu 37 4 68693170 68693170 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004262.2 -1 reviewed p.R254I 0.000 85 0% 38 21.1% 0 - possibly_damaging(0.819) tolerated(0.18) neutral(0.365) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys TMPRSS11D 9407 genome.wustl.edu 37 4 68703917 68703917 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004262.2 -1 reviewed p.E150* 0.926 168 0% 81 28.4% 0 - - - - HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 TMPRSS11D 9407 genome.wustl.edu 37 4 68708295 68708295 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004262.2 -1 reviewed p.A100T 0.995 196 0% 78 30.8% 0 - benign(0.023) tolerated(0.26) neutral(0.035) HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 TMPRSS11B 132724 genome.wustl.edu 37 4 69094475 69094475 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182502.3 -1 validated p.E358 0.000 114 0% 93 24.7% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases UGT2B11 10720 genome.wustl.edu 37 4 69870616 69870616 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000381096 -1 known p.F516L 0.000 358 0.6% 126 22.2% 0 - - - - HMMPfam_UDPGT UGT2B11 10720 genome.wustl.edu 37 4 70070318 70070318 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001073.1 -1 provisional p.I380 1.000 187 0% 42 11.9% 0 - - - - HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_SSF53756 UGT2B11 10720 genome.wustl.edu 37 4 70074148 70074148 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001073.1 -1 provisional p.S308Y 0.993 411 0% 139 16.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_UDPGT,superfamily_SSF53756 UGT2B28 54490 genome.wustl.edu 37 4 70146441 70146441 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053039.1 +1 provisional p.E75K 0.021 183 0% 45 24.4% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B28 54490 genome.wustl.edu 37 4 70152522 70152522 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053039.1 +1 provisional p.S308Y 1.000 412 0% 112 35.7% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B4 7363 genome.wustl.edu 37 4 70346359 70346359 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021139.2 -1 validated p.R527I 0.000 276 0% 122 32.8% 0 - benign(0.003) deleterious(0.02) neutral(0.383) NULL UGT2A1 10941 genome.wustl.edu 37 4 70512938 70512938 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006798.2 -1 validated p.S142I 0.395 129 0% 64 26.6% 0 - possibly_damaging(0.708) deleterious(0) deleterious(0.700) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A1 10941 genome.wustl.edu 37 4 70513107 70513107 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006798.2 -1 validated p.V86L 0.000 101 0% 52 25% 0 - benign(0) tolerated(0.55) neutral(0.007) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SULT1E1 6783 genome.wustl.edu 37 4 70707725 70707725 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005420.2 -1 reviewed p.R291Q 0.016 181 0% 110 31.8% 0 - benign(0.039) deleterious(0.04) neutral(0.351) superfamily_P-loop containing nucleoside triphosphate hydrolases CSN2 1447 genome.wustl.edu 37 4 70823066 70823066 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001891.2 -1 validated p.E201* 0.011 177 0% 96 27.1% 0 - - - - HMMPfam_Casein STATH 6779 genome.wustl.edu 37 4 70865501 70865501 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003154.2 +1 validated p.F26C 0.000 401 0% 139 30.9% 0 - unknown(0) - - HMMPfam_Statherin HTN3 3347 genome.wustl.edu 37 4 70896492 70896492 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000200.2 +1 reviewed p.L12R 0.048 244 0% 226 28.3% 0 - possibly_damaging(0.822) deleterious(0) deleterious(0.756) NULL FDCSP 260436 genome.wustl.edu 37 4 71096944 71096944 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152997.2 +1 validated p.I11 0.880 86 0% 35 45.7% 1 0% - - - NULL CSN3 1448 genome.wustl.edu 37 4 71115001 71115001 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005212.2 +1 validated p.I125S 0.000 107 0% 120 27.5% 0 - unknown(0) tolerated(0.74) - HMMPfam_Casein_kappa CABS1 85438 genome.wustl.edu 37 4 71201188 71201188 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033122.3 +1 validated p.I144 0.539 51 0% 22 31.8% 0 - - - - NULL AMBN 258 genome.wustl.edu 37 4 71469002 71469002 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016519.4 +1 reviewed p.S225Y 0.980 282 0% 99 22.2% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Amelin,HMMSmart_SM00817 AMBN 258 genome.wustl.edu 37 4 71469610 71469610 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016519.4 +1 reviewed p.L257R 1.000 92 0% 51 25.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Amelin,HMMSmart_SM00817 UTP3 57050 genome.wustl.edu 37 4 71555124 71555124 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020368.2 +1 validated p.L244 1.000 35 0% 35 28.6% 56 51.7% - - - HMMPfam_Sas10_Utp3 RUFY3 22902 genome.wustl.edu 37 4 71665917 71665917 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037442.2 +1 validated p.S539 0.178 143 0% 82 35.4% 8 37.5% - - - superfamily_FYVE/PHD zinc finger SLC4A4 8671 genome.wustl.edu 37 4 72121099 72121099 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134742.1 +1 reviewed p.S79I 1.000 90 0% 44 27.3% 0 - probably_damaging(0.967) deleterious(0.02) deleterious(0.792) NULL SLC4A4 8671 genome.wustl.edu 37 4 72222859 72222859 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134742.1 +1 reviewed p.K229E 1.000 78 0% 61 18% 0 - possibly_damaging(0.614) tolerated(0.07) deleterious(0.532) HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr GC 2638 genome.wustl.edu 37 4 72620768 72620768 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000583.2 -1 reviewed p.V364G 0.003 155 0% 103 30.1% 0 - possibly_damaging(0.873) deleterious(0.01) deleterious(0.745) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ADAMTS3 9508 genome.wustl.edu 37 4 73175219 73175219 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014243.1 -1 reviewed p.E692* 1.000 159 0% 61 24.6% 0 - - - - NULL ADAMTS3 9508 genome.wustl.edu 37 4 73176854 73176854 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014243.1 -1 reviewed p.D656N 0.974 137 0% 35 34.3% 0 - benign(0.081) tolerated(0.1) neutral(0.292) NULL ADAMTS3 9508 genome.wustl.edu 37 4 73185111 73185111 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014243.1 -1 reviewed p.Q430 0.991 75 0% 54 20.4% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS3 9508 genome.wustl.edu 37 4 73186480 73186480 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014243.1 -1 reviewed p.D351 1.000 269 0.4% 125 31.2% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS3 9508 genome.wustl.edu 37 4 73205297 73205297 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014243.1 -1 reviewed p.E259K 1.000 109 0% 49 30.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS3 9508 genome.wustl.edu 37 4 73414286 73414286 + Missense_Mutation SNP C C A rs788908 byCluster;byFrequency;bySubmitter;by2Hit2Allele;byHapMap;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014243.1 -1 reviewed p.R138I 1.000 190 0% 97 30.9% 0 - benign(0.003) tolerated(0.32) neutral(0.024) HMMPfam_Pep_M12B_propep ANKRD17 26057 genome.wustl.edu 37 4 73943112 73943112 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032217.3 -1 reviewed p.Q2516R 1.000 93 0% 100 26% 139 46% possibly_damaging(0.539) deleterious(0) deleterious(0.627) NULL ANKRD17 26057 genome.wustl.edu 37 4 73956775 73956775 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032217.3 -1 reviewed p.K2190N 1.000 167 0% 157 30.6% 61 54% probably_damaging(0.976) tolerated(0.21) neutral(0.462) NULL ANKRD17 26057 genome.wustl.edu 37 4 73968139 73968139 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032217.3 -1 reviewed p.N1509K 0.989 503 0% 458 28.4% 14 42.8% possibly_damaging(0.727) deleterious(0.01) deleterious(0.670) NULL ANKRD17 26057 genome.wustl.edu 37 4 74005759 74005759 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032217.3 -1 reviewed p.Q858H 1.000 312 0% 226 35% 8 50% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_Ankyrin repeat ALB 213 genome.wustl.edu 37 4 74274452 74274452 + Nonsense_Mutation SNP C C T rs77238412 byCluster;byFrequency TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000477.5 +1 reviewed p.R138* 0.000 84 0% 96 10.4% 0 - - - - superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 AFM 173 genome.wustl.edu 37 4 74367576 74367576 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001133.2 +1 reviewed p.F573 0.001 187 0% 57 66.7% 1 100% - - - PatternScan_ALBUMIN,superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 RASSF6 166824 genome.wustl.edu 37 4 74442009 74442009 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201431.1 -1 validated p.A351 0.079 264 0% 106 34.9% 1 100% - - - NULL CXCL5 6374 genome.wustl.edu 37 4 74863977 74863977 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002994.3 -1 reviewed p.I63S 0.827 124 0% 181 31.5% 0 - possibly_damaging(0.883) deleterious(0) deleterious(0.789) HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines,PatternScan_SMALL_CYTOKINES_CXC EPGN 255324 genome.wustl.edu 37 4 75178810 75178810 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000446430 +1 known p.I86V 1.000 410 0% 189 37.6% 0 - - - - NULL EREG 2069 genome.wustl.edu 37 4 75248494 75248494 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001432.2 +1 validated p.T137 0.011 225 0% 137 33.6% 0 - - - - NULL BTC 685 genome.wustl.edu 37 4 75681142 75681142 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001729.2 -1 reviewed p.P70S 1.000 281 0% 164 30.5% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 BTC 685 genome.wustl.edu 37 4 75695353 75695353 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000512743 -1 known p.F5S 1.000 85 0% 39 25.6% 0 - - - - NULL PARM1 25849 genome.wustl.edu 37 4 75937876 75937876 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015393.2 +1 validated p.S95 0.000 146 0% 149 36.9% 4 0% - - - NULL G3BP2 9908 genome.wustl.edu 37 4 76571617 76571617 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012297.4 -1 validated p.R361C 1.000 138 0% 56 41.1% 26 26.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PPEF2 5470 genome.wustl.edu 37 4 76813023 76813023 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006239.2 -1 reviewed p.G55V 1.000 39 0% 29 27.6% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL NUP54 53371 genome.wustl.edu 37 4 77045813 77045813 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017426.2 -1 reviewed p.R385 1.000 281 0% 283 33.6% 34 50% - - - NULL NUP54 53371 genome.wustl.edu 37 4 77057458 77057458 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017426.2 -1 reviewed p.D135N 1.000 123 0% 148 30.4% 21 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC158 339965 genome.wustl.edu 37 4 77324342 77324342 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042784.1 -1 validated p.E7K 0.982 309 0% 136 29.4% 0 - benign(0.146) deleterious(0) neutral(0.457) NULL FRAS1 80144 genome.wustl.edu 37 4 79254556 79254556 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000508900 +1 known p.*599Q 0.001 119 0% 52 34.6% 13 76.9% - - - HMMSmart_SM00261,superfamily_Growth factor receptor domain FRAS1 80144 genome.wustl.edu 37 4 79394602 79394602 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025074.6 +1 reviewed p.N2510K 1.000 219 0% 100 14% 14 21.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FRAS1 80144 genome.wustl.edu 37 4 79399013 79399013 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000512123 +1 known p.H861N 1.000 107 0% 39 33.3% 18 44.4% - - - HMMPfam_Calx-beta,HMMSmart_SM00237 FRAS1 80144 genome.wustl.edu 37 4 79458157 79458157 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025074.6 +1 reviewed p.L3700I 1.000 121 0% 88 11.4% 11 18.1% possibly_damaging(0.511) tolerated(1) neutral(0.172) NULL ANXA3 306 genome.wustl.edu 37 4 79525503 79525503 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005139.2 +1 reviewed p.R288* 1.000 94 0% 40 27.5% 62 37% - - - superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 GK2 2712 genome.wustl.edu 37 4 80328315 80328315 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033214.2 -1 validated p.R347I 0.268 166 0% 225 30.7% 0 - benign(0.013) tolerated(0.15) neutral(0.241) HMMPfam_FGGY_C,superfamily_SSF53067 GK2 2712 genome.wustl.edu 37 4 80329126 80329126 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033214.2 -1 validated p.E77K 0.027 209 0% 253 36.8% 0 - benign(0) tolerated(0.92) - HMMPfam_FGGY_N,superfamily_SSF53067 FGF5 2250 genome.wustl.edu 37 4 81196127 81196127 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004464.3 +1 reviewed p.K140N 1.000 250 0% 162 34% 0 - benign(0.039) tolerated(0.09) neutral(0.298) HMMPfam_FGF,HMMSmart_SM00442,superfamily_Cytokine PRKG2 5593 genome.wustl.edu 37 4 82056314 82056314 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006259.1 -1 provisional p.K591E 1.000 190 0% 90 23.3% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HNRNPD 3184 genome.wustl.edu 37 4 83278508 83278508 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000514671 -1 known p.E141* 1.000 308 0% 170 20.6% 299 29% possibly_damaging(0.921) deleterious(0.02) deleterious(0.754) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ENOPH1 58478 genome.wustl.edu 37 4 83375977 83375977 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021204.3 +1 validated p.F164 0.999 316 0% 282 34.4% 132 43.1% - - - HMMPfam_Hydrolase,superfamily_HAD-like TMEM150C 441027 genome.wustl.edu 37 4 83411219 83411219 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080506.1 -1 provisional p.V179A 1.000 139 0% 83 28.9% 6 66.6% benign(0.028) deleterious(0) neutral(0.446) HMMPfam_Frag1 SEC31A 22872 genome.wustl.edu 37 4 83793140 83793140 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077207.1 -1 reviewed p.R247* 1.000 56 0% 39 28.2% 40 10% - - - superfamily_WD40 repeat-like SEC31A 22872 genome.wustl.edu 37 4 83796937 83796937 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077207.1 -1 reviewed p.I147 1.000 153 0% 97 28.9% 18 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 THAP9 79725 genome.wustl.edu 37 4 83838159 83838159 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024672.4 +1 validated p.R265Q 0.443 151 0% 96 37.5% 1 100% benign(0) tolerated(0.55) neutral(0.007) NULL THAP9 79725 genome.wustl.edu 37 4 83840028 83840028 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024672.4 +1 validated p.S888I 0.492 44 0% 26 50% 3 33.3% unknown(0) - - NULL HPSE 10855 genome.wustl.edu 37 4 84222214 84222214 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098540.1 -1 validated p.L457 0.782 158 0% 86 36% 2 0% - - - NULL HELQ 113510 genome.wustl.edu 37 4 84374658 84374658 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133636.2 -1 validated p.N246K 0.000 227 0% 171 14.6% 9 22.2% benign(0) tolerated(1) - NULL AGPAT9 84803 genome.wustl.edu 37 4 84518018 84518018 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032717.3 +1 validated p.E288* 1.000 152 0% 59 33.9% 0 - - - - HMMPfam_Acyltransferase,HMMSmart_PlsC CDS1 1040 genome.wustl.edu 37 4 85562129 85562129 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001263.3 +1 reviewed p.A340S 0.732 119 0% 121 9.1% 14 14.2% benign(0) tolerated(0.61) neutral(0.004) HMMPfam_CTP_transf_1 WDFY3 23001 genome.wustl.edu 37 4 85609264 85609264 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014991.4 -1 reviewed p.S3173Y 1.000 98 0% 63 30.2% 21 42.8% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMSmart_SM00320,superfamily_WD40 repeat-like WDFY3 23001 genome.wustl.edu 37 4 85614055 85614055 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014991.4 -1 reviewed p.S3011Y 1.000 165 0% 80 28.7% 6 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_WD40 repeat-like WDFY3 23001 genome.wustl.edu 37 4 85623569 85623569 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014991.4 -1 reviewed p.E2845* 1.000 81 0% 129 41.1% 9 33.3% - - - HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like PTPN13 5783 genome.wustl.edu 37 4 87622523 87622523 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080685.2 +1 reviewed p.F255C 1.000 86 0% 75 13.3% 1 0% benign(0.001) tolerated(0.33) neutral(0.024) NULL SLC10A6 345274 genome.wustl.edu 37 4 87745009 87745009 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_197965.2 -1 validated p.K322N 0.000 246 0% 115 33% 0 - benign(0.019) tolerated(0.51) neutral(0.010) NULL SLC10A6 345274 genome.wustl.edu 37 4 87769918 87769918 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_197965.2 -1 validated p.F117L 1.000 30 0% 25 44% 0 - benign(0.001) tolerated(0.45) neutral(0.012) HMMPfam_SBF AFF1 4299 genome.wustl.edu 37 4 88053513 88053513 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005935.2 +1 validated p.F1081 0.753 99 0% 65 38.5% 7 57.1% - - - HMMPfam_AF-4 SPARCL1 8404 genome.wustl.edu 37 4 88411497 88411497 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128310.1 -1 validated p.A487T 1.000 186 0% 98 36.7% 92 29.3% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Kazal_1,HMMSmart_SM00280,superfamily_Kazal-type serine protease inhibitors DSPP 1834 genome.wustl.edu 37 4 88534971 88534971 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014208.3 +1 reviewed p.R386I 0.921 89 0% 65 21.5% 0 - probably_damaging(0.991) - - NULL SPP1 6696 genome.wustl.edu 37 4 88903850 88903850 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040058.1 +1 validated p.K249N 0.000 105 0% 73 24.7% 407 0% possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) HMMPfam_Osteopontin,HMMSmart_SM00017 HERC6 55008 genome.wustl.edu 37 4 89345090 89345090 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017912.3 +1 validated p.D598Y 0.012 79 0% 41 29.3% 4 0% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL HERC6 55008 genome.wustl.edu 37 4 89361107 89361107 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017912.3 +1 validated p.F879L 1.000 124 0% 75 37.3% 9 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC5 51191 genome.wustl.edu 37 4 89415335 89415335 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016323.2 +1 reviewed p.R766I 0.334 172 0.6% 80 28.7% 8 0% benign(0.01) tolerated(0.12) neutral(0.261) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC5 51191 genome.wustl.edu 37 4 89426885 89426885 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016323.2 +1 reviewed p.F977L 0.116 63 0% 38 34.2% 3 33.3% benign(0.085) tolerated(0.08) neutral(0.306) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC5 51191 genome.wustl.edu 37 4 89426939 89426939 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016323.2 +1 reviewed p.F995L 0.065 72 0% 50 30% 4 25% probably_damaging(0.978) deleterious(0.03) deleterious(0.785) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain NAP1L5 266812 genome.wustl.edu 37 4 89618726 89618726 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153757.2 -1 validated p.E60D 0.079 84 0% 159 11.3% 4 25% benign(0.044) tolerated(0.8) neutral(0.003) NULL FAM13A 10144 genome.wustl.edu 37 4 89652542 89652542 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014883.2 -1 validated p.E961* 1.000 49 0% 38 31.6% 2 50% - - - NULL FAM13A 10144 genome.wustl.edu 37 4 89950704 89950704 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014883.2 -1 validated p.G42* 1.000 177 0% 146 28.1% 1 0% - - - superfamily_Rho_GAP TIGD2 166815 genome.wustl.edu 37 4 90034163 90034163 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145715.2 +1 reviewed p.K13T 1.000 116 0% 234 38% 6 33.3% probably_damaging(0.995) tolerated(0.05) deleterious(0.803) HMMPfam_CENP-B_N,superfamily_Homeodomain_like TIGD2 166815 genome.wustl.edu 37 4 90034798 90034798 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145715.2 +1 reviewed p.L225I 1.000 51 0% 80 37.5% 13 38.4% probably_damaging(0.999) tolerated(0.3) deleterious(0.519) HMMPfam_DDE FAM190A 401145 genome.wustl.edu 37 4 91229821 91229821 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145065.1 +1 validated p.R129I 1.000 98 0% 39 23.1% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM190A 401145 genome.wustl.edu 37 4 91234136 91234136 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145065.1 +1 validated p.E483* 0.929 70 0% 58 29.3% 3 33.3% - - - NULL FAM190A 401145 genome.wustl.edu 37 4 91321219 91321219 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145065.1 +1 validated p.L514 0.998 468 0.2% 381 33.1% 3 100% - - - NULL GRID2 2895 genome.wustl.edu 37 4 94436497 94436497 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001510.2 +1 validated p.R710W 1.000 71 0% 53 30.2% 0 - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 GRID2 2895 genome.wustl.edu 37 4 94547443 94547443 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001510.2 +1 validated p.F739 1.000 243 0% 289 27.7% 2 0% - - - HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 GRID2 2895 genome.wustl.edu 37 4 94690530 94690530 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001510.2 +1 validated p.L844I 0.996 164 0% 78 35.9% 0 - benign(0.035) tolerated(0.1) neutral(0.288) HMMPfam_Lig_chan GRID2 2895 genome.wustl.edu 37 4 94693587 94693587 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001510.2 +1 validated p.Q988K 1.000 77 0% 48 14.6% 0 - possibly_damaging(0.706) deleterious(0) deleterious(0.699) NULL ATOH1 474 genome.wustl.edu 37 4 94750656 94750656 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005172.1 +1 reviewed p.K193N 1.000 31 0% 50 34% 0 - possibly_damaging(0.793) deleterious(0) deleterious(0.742) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic SMARCAD1 56916 genome.wustl.edu 37 4 95199797 95199797 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128429.1 +1 validated p.R737* 0.073 152 0% 148 30.4% 23 13% - - - HMMPfam_SNF2_N ADH1C 126 genome.wustl.edu 37 4 100260858 100260858 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000669.3 -1 reviewed p.E327K 1.000 157 0% 81 28.4% 0 - benign(0.028) deleterious(0.05) neutral(0.347) superfamily_GroES-like,HMMPfam_ADH_zinc_N ADH7 131 genome.wustl.edu 37 4 100349293 100349293 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000673.4 -1 reviewed p.E112* 0.988 151 0% 83 36.1% 0 - - - - superfamily_GroES_like,HMMPfam_ADH_N RG9MTD2 93587 genome.wustl.edu 37 4 100472065 100472065 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134665.1 -1 validated p.R243Q 1.000 239 0% 85 32.9% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA_m1G_MT SLC39A8 64116 genome.wustl.edu 37 4 103225594 103225594 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135146.1 -1 reviewed p.E240 0.999 178 0% 70 17.1% 35 20% - - - HMMPfam_Zip UBE2D3 7323 genome.wustl.edu 37 4 103722616 103722616 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181893.1 -1 reviewed p.S102Y 1.000 195 0% 59 28.8% 203 37.9% possibly_damaging(0.932) deleterious(0) deleterious(0.823) HMMPfam_UQ_con,HMMSmart_UBCc,superfamily_UBQ-conjugat/RWD-like SLC9B2 133308 genome.wustl.edu 37 4 103968266 103968266 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178833.4 -1 validated p.F277 0.797 66 0% 29 37.9% 3 0% - - - HMMPfam_Na_H_Exchanger BDH2 56898 genome.wustl.edu 37 4 104000908 104000908 + Missense_Mutation SNP G G T rs56124221 byCluster TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020139.3 -1 validated p.A230D 1.000 118 0% 150 22% 107 33.6% possibly_damaging(0.66) deleterious(0.01) deleterious(0.639) superfamily_NAD(P)-binding Rossmann-fold domains CENPE 1062 genome.wustl.edu 37 4 104065621 104065621 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001813.2 -1 validated p.T1671I 0.929 279 0% 276 36.2% 8 37.5% probably_damaging(0.982) tolerated(0.61) neutral(0.430) NULL CENPE 1062 genome.wustl.edu 37 4 104068637 104068637 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001813.2 -1 validated p.F1337C 1.000 394 0% 281 31% 4 25% benign(0.34) deleterious(0.03) deleterious(0.472) NULL CENPE 1062 genome.wustl.edu 37 4 104070113 104070113 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001813.2 -1 validated p.L1244R 0.796 261 0% 170 35.3% 5 40% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL TET2 54790 genome.wustl.edu 37 4 106193807 106193807 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127208.1 +1 validated p.V1423 0.998 133 0% 57 36.8% 3 66.6% - - - NULL TET2 54790 genome.wustl.edu 37 4 106196499 106196499 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127208.1 +1 validated p.S1611Y 1.000 115 0% 60 41.7% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENSG00000245205 0 genome.wustl.edu 37 4 106406787 106406787 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000501580 -1 novel NULL 1.000 14 0.000 9 0.556 1525 0% - - - - INTS12 57117 genome.wustl.edu 37 4 106613190 106613190 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142471.1 -1 validated p.A200 1.000 99 0% 81 28.4% 27 40.7% - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD GSTCD 79807 genome.wustl.edu 37 4 106746946 106746946 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031720.2 +1 validated p.F507L 0.997 169 0% 90 31.1% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_S-adenosyl-L-methionine-dependent methyltransferases TBCK 93627 genome.wustl.edu 37 4 107157562 107157562 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033115.3 -1 validated p.F382 1.000 132 0% 61 42.6% 16 62.5% - - - superfamily_RabGAP_TBC AIMP1 9255 genome.wustl.edu 37 4 107249372 107249372 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142416.1 +1 reviewed p.K145N 1.000 81 0% 97 25.8% 119 63% benign(0.002) tolerated(0.37) neutral(0.019) NULL CYP2U1 113612 genome.wustl.edu 37 4 108866286 108866286 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183075.2 +1 reviewed p.P217 1.000 175 0% 97 30.9% 5 60% - - - HMMPfam_p450,superfamily_Cytochrome P450 SEC24B 10427 genome.wustl.edu 37 4 110441582 110441582 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006323.2 +1 reviewed p.F729L 1.000 151 0% 119 35.3% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec23_trunk,superfamily_vWA-like,superfamily_beta-sandwich domain of Sec23/24 LOC389217 389217 genome.wustl.edu 37 4 110474711 110474711 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001717714.1 -1 model p.T193 0.966 16 0% 23 30.4% 1 0% - - - HMMPfam_NAP CASP6 839 genome.wustl.edu 37 4 110618908 110618908 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001226.3 -1 reviewed p.A34T 0.017 268 0% 308 27.9% 28 46.4% benign(0) tolerated(0.51) neutral(0.009) NULL CFI 3426 genome.wustl.edu 37 4 110662139 110662139 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000204.3 -1 reviewed p.E554 0.539 133 0% 80 28.7% 147 46.9% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases EGF 1950 genome.wustl.edu 37 4 110901288 110901288 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001963.4 +1 reviewed p.A738 1.000 164 0% 70 38.6% 1 100% - - - superfamily_SSF63825 EGF 1950 genome.wustl.edu 37 4 110929323 110929323 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001963.4 +1 reviewed p.E1103* 0.995 132 0% 88 36.4% 0 - - - - NULL ELOVL6 79071 genome.wustl.edu 37 4 110980799 110980799 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130721.1 -1 validated p.F111L 1.000 78 0% 68 14.7% 3 0% benign(0.045) tolerated(0.17) neutral(0.061) HMMPfam_ELO ENPEP 2028 genome.wustl.edu 37 4 111434689 111434689 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001977.3 +1 validated p.G476V 0.998 164 0% 116 38.8% 1 0% probably_damaging(0.978) tolerated(0.05) deleterious(0.766) "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" ENPEP 2028 genome.wustl.edu 37 4 111464031 111464031 + Silent SNP C C A rs150450748 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001977.3 +1 validated p.S644 0.000 208 0% 101 32.7% 2 0% - - - NULL C4orf21 55345 genome.wustl.edu 37 4 113468518 113468518 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000505019 -1 known p.P1841S 0.995 96 0% 100 13% 15 13.3% benign(0.049) deleterious(0.02) neutral(0.386) superfamily_P-loop containing nucleoside triphosphate hydrolases C4orf21 55345 genome.wustl.edu 37 4 113508700 113508700 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000505019 -1 known p.F1171L 0.004 108 0% 52 32.7% 2 0% benign(0) tolerated(1) - NULL ANK2 287 genome.wustl.edu 37 4 114275038 114275038 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001148.4 +1 reviewed p.S1755Y 1.000 60 0% 39 38.5% 0 - probably_damaging(1) - - NULL ANK2 287 genome.wustl.edu 37 4 114277351 114277351 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001148.4 +1 reviewed p.S2526L 0.997 72 0% 25 36% 0 - probably_damaging(0.991) - - NULL ANK2 287 genome.wustl.edu 37 4 114278701 114278701 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001148.4 +1 reviewed p.S2976F 0.179 113 0% 50 24% 0 - probably_damaging(0.991) - - NULL UGT8 7368 genome.wustl.edu 37 4 115544340 115544340 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128174.1 +1 validated p.E102K 1.000 177 0% 135 26.7% 5 60% possibly_damaging(0.791) tolerated(0.26) neutral(0.331) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase NDST4 64579 genome.wustl.edu 37 4 115997223 115997223 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022569.1 -1 provisional p.D324Y 1.000 92 0% 51 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NDST4 64579 genome.wustl.edu 37 4 115997734 115997734 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022569.1 -1 provisional p.Y153* 1.000 86 0% 34 35.3% 0 - - - - NULL NDST4 64579 genome.wustl.edu 37 4 115997920 115997920 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022569.1 -1 provisional p.L91 0.028 149 0% 57 36.8% 0 - - - - NULL TRAM1L1 133022 genome.wustl.edu 37 4 118005452 118005452 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152402.2 -1 validated p.E366D 1.000 146 0% 196 12.8% 1 0% benign(0.032) tolerated(0.24) neutral(0.039) NULL TRAM1L1 133022 genome.wustl.edu 37 4 118006380 118006380 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152402.2 -1 validated p.V57A 0.005 57 0% 103 30.1% 11 36.3% possibly_damaging(0.888) deleterious(0.03) deleterious(0.712) HMMPfam_TRAM1 NDST3 9348 genome.wustl.edu 37 4 118975799 118975799 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004784.2 +1 reviewed p.S245Y 0.916 244 0% 152 11.8% 0 - possibly_damaging(0.449) tolerated(0.98) neutral(0.147) NULL NDST3 9348 genome.wustl.edu 37 4 119026194 119026194 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004784.2 +1 reviewed p.L335I 1.000 153 0% 110 24.5% 0 - benign(0.011) tolerated(0.35) neutral(0.021) NULL PRSS12 8492 genome.wustl.edu 37 4 119204001 119204001 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003619.2 -1 reviewed p.G769* 1.000 157 0% 178 37.1% 12 25% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SYNPO2 171024 genome.wustl.edu 37 4 119948252 119948252 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133477.2 +1 validated p.S243L 0.013 56 0% 36 27.8% 1 0% benign(0) deleterious(0) neutral(0.445) NULL SYNPO2 171024 genome.wustl.edu 37 4 119951838 119951838 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000504178 +1 known p.F588L 0.000 117 0% 84 13.1% 6 0% - - - NULL SYNPO2 171024 genome.wustl.edu 37 4 119953038 119953038 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133477.2 +1 validated p.F1036L 0.987 82 0% 65 55.4% 7 0% benign(0.274) tolerated(0.09) neutral(0.326) NULL SYNPO2 171024 genome.wustl.edu 37 4 119953152 119953152 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133477.2 +1 validated p.F1074L 1.000 115 0% 98 32.7% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL USP53 54532 genome.wustl.edu 37 4 120213657 120213657 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019050.2 +1 validated p.R838I 0.036 95 0% 72 27.8% 25 48% possibly_damaging(0.462) tolerated(0.08) neutral(0.452) NULL C4orf3 401152 genome.wustl.edu 37 4 120221635 120221635 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000399075 -1 known p.G152D 0.005 110 0% 218 38.1% 425 40.4% unknown(0) tolerated(0.29) - NULL C4orf3 401152 genome.wustl.edu 37 4 120225572 120225572 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000399075 -1 known p.N10S 0.005 245 0% 291 30.9% 0 - possibly_damaging(0.615) - - NULL LOC645513 645513 genome.wustl.edu 37 4 120381922 120381922 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_078309.1 +1 model NULL 1.000 105 0% 91 30.8% 12 66.6% - - - - NDNF 79625 genome.wustl.edu 37 4 121958403 121958403 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024574.3 -1 validated p.P241 0.256 245 0% 90 28.9% 0 - - - - HMMSmart_FN3,superfamily_FN_III-like QRFPR 84109 genome.wustl.edu 37 4 122250496 122250496 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198179.2 -1 validated p.E423D 0.017 145 0% 71 70.4% 0 - benign(0.002) tolerated(0.32) neutral(0.024) NULL QRFPR 84109 genome.wustl.edu 37 4 122254085 122254085 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198179.2 -1 validated p.M230V 1.000 130 0% 81 14.8% 0 - possibly_damaging(0.653) tolerated(0.06) deleterious(0.552) HMMPfam_7tm_1,superfamily_SSF81321 TMEM155 132332 genome.wustl.edu 37 4 122683029 122683029 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152399.2 -1 validated p.D4Y 0.000 132 0% 194 30.4% 0 - possibly_damaging(0.882) - - NULL TRPC3 7222 genome.wustl.edu 37 4 122833232 122833232 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130698.1 -1 validated p.R453Q 1.000 108 0% 48 27.1% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL KIAA1109 84162 genome.wustl.edu 37 4 123159347 123159347 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000424425 +1 known p.I1057V 0.997 92 0% 100 30% 6 66.6% - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123159487 123159487 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015312.3 +1 reviewed p.R1272I 1.000 133 0% 107 30.8% 2 50% possibly_damaging(0.677) deleterious(0) deleterious(0.685) NULL KIAA1109 84162 genome.wustl.edu 37 4 123160787 123160787 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015312.3 +1 reviewed p.R1317H 1.000 96 0% 80 31.2% 3 0% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL KIAA1109 84162 genome.wustl.edu 37 4 123160916 123160916 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015312.3 +1 reviewed p.R1360I 1.000 74 0% 52 30.8% 5 40% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL KIAA1109 84162 genome.wustl.edu 37 4 123193320 123193320 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015312.3 +1 reviewed p.R2736W 1.000 71 0% 38 23.7% 6 50% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) NULL KIAA1109 84162 genome.wustl.edu 37 4 123283248 123283248 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015312.3 +1 reviewed p.L4955W 1.000 111 0% 45 20% 27 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FSA_C ADAD1 132612 genome.wustl.edu 37 4 123301256 123301256 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139243.3 +1 validated p.S11L 0.998 61 0% 133 31.6% 0 - benign(0.167) deleterious(0) neutral(0.460) NULL ADAD1 132612 genome.wustl.edu 37 4 123332460 123332460 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139243.3 +1 validated p.S311Y 1.000 137 0% 65 23.1% 0 - probably_damaging(0.98) deleterious(0.05) deleterious(0.769) HMMPfam_A_deamin,HMMSmart_SM00552 IL2 3558 genome.wustl.edu 37 4 123377510 123377510 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000586.3 -1 reviewed p.K29T 0.001 240 0% 94 42.6% 0 - benign(0.034) deleterious(0.03) neutral(0.366) HMMPfam_IL2,HMMSmart_SM00189,superfamily_4-helical cytokines IL21 59067 genome.wustl.edu 37 4 123542067 123542067 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021803.2 -1 validated p.R34C 0.983 184 0% 80 33.8% 2 0% possibly_damaging(0.803) deleterious(0) deleterious(0.747) NULL SPATA5 166378 genome.wustl.edu 37 4 123949475 123949475 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145207.2 +1 validated p.G668 0.982 140 0% 92 31.5% 1 100% - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD50 57182 genome.wustl.edu 37 4 125590747 125590747 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020337.2 -1 validated p.R1229* 0.978 94 0% 71 32.4% 6 50% - - - NULL FAT4 79633 genome.wustl.edu 37 4 126242262 126242262 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024582.4 +1 validated p.E1566K 1.000 74 0% 96 38.5% 30 76.6% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126336140 126336140 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024582.4 +1 validated p.R2008W 1.000 75 0% 34 38.2% 8 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126336372 126336372 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024582.4 +1 validated p.I2085T 1.000 110 0% 67 31.3% 6 50% possibly_damaging(0.671) deleterious(0.04) deleterious(0.587) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126370701 126370701 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024582.4 +1 validated p.R2844* 1.000 72 0% 24 29.2% 2 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126389878 126389878 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024582.4 +1 validated p.F4037L 1.000 91 0% 65 32.3% 19 68.4% benign(0.02) tolerated(0.09) neutral(0.297) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 FAT4 79633 genome.wustl.edu 37 4 126412182 126412182 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024582.4 +1 validated p.G4735 0.001 67 0% 58 32.8% 33 75.7% - - - NULL INTU 27152 genome.wustl.edu 37 4 128595314 128595314 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015693.3 +1 validated p.V376A 1.000 224 0% 117 34.2% 1 100% possibly_damaging(0.787) deleterious(0.01) deleterious(0.700) NULL INTU 27152 genome.wustl.edu 37 4 128627874 128627874 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015693.3 +1 validated p.S674L 0.999 175 0% 80 23.7% 6 33.3% possibly_damaging(0.571) deleterious(0.01) deleterious(0.601) NULL INTU 27152 genome.wustl.edu 37 4 128632225 128632225 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015693.3 +1 validated p.R843C 0.996 172 0% 98 32.7% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HSPA4L 22824 genome.wustl.edu 37 4 128722972 128722972 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014278.2 +1 provisional p.L188I 1.000 194 0% 101 36.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70 HSPA4L 22824 genome.wustl.edu 37 4 128724899 128724899 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014278.2 +1 provisional p.S260Y 1.000 131 0% 65 12.3% 1 100% benign(0.119) tolerated(0.05) neutral(0.355) HMMPfam_HSP70,superfamily_SSF53067 HSPA4L 22824 genome.wustl.edu 37 4 128732660 128732660 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014278.2 +1 provisional p.R483C 1.000 183 0.5% 89 28.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,superfamily_SSF100920 PLK4 10733 genome.wustl.edu 37 4 128807525 128807525 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014264.3 +1 reviewed p.F334V 0.289 82 0% 53 17% 8 37.5% benign(0.001) tolerated(0.51) neutral(0.009) superfamily_Kinase_like LARP1B 55132 genome.wustl.edu 37 4 129043089 129043089 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018078.2 +1 reviewed p.R424* 0.048 63 0% 32 34.4% 2 0% - - - NULL LARP1B 55132 genome.wustl.edu 37 4 129099766 129099766 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018078.2 +1 reviewed p.V622A 1.000 91 0% 37 21.6% 1 0% possibly_damaging(0.917) deleterious(0) deleterious(0.812) NULL PABPC4L 132430 genome.wustl.edu 37 4 135121213 135121213 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114734.1 -1 validated p.R321I 1.000 163 0% 270 28.9% 2 100% - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD PABPC4L 132430 genome.wustl.edu 37 4 135122103 135122103 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114734.1 -1 validated p.D24 0.997 63 0% 86 25.6% 8 62.5% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PCDH18 54510 genome.wustl.edu 37 4 138453159 138453159 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019035.3 -1 reviewed p.K28N 1.000 186 0% 56 26.8% 3 33.3% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_Cadherin_2 ELF2 1998 genome.wustl.edu 37 4 139983209 139983209 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201999.1 -1 validated p.N194H 1.000 116 0% 63 11.1% 5 0% benign(0.378) deleterious(0.01) deleterious(0.526) superfamily_SSF46785 ELF2 1998 genome.wustl.edu 37 4 140058792 140058792 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201999.1 -1 validated p.N22H 1.000 181 0% 132 35.6% 9 33.3% benign(0.053) deleterious(0.01) neutral(0.409) NULL C4orf49 84709 genome.wustl.edu 37 4 140196544 140196544 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032623.3 -1 validated p.S29A 0.998 91 0% 154 32.5% 1 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL NAA15 80155 genome.wustl.edu 37 4 140272760 140272760 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_057175.3 +1 validated p.E337* 1.000 71 0% 78 34.6% 2 0% - - - superfamily_TPR-like SETD7 80854 genome.wustl.edu 37 4 140468074 140468074 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030648.2 -1 validated p.S57I 1.000 96 0% 117 27.4% 5 0% unknown(0) - - HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain INPP4B 8821 genome.wustl.edu 37 4 143029297 143029297 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101669.1 -1 reviewed p.E775K 1.000 187 0% 96 30.2% 0 - possibly_damaging(0.884) tolerated(0.71) neutral(0.346) NULL USP38 84640 genome.wustl.edu 37 4 144124582 144124582 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032557.5 +1 validated p.L358V 0.503 254 0% 132 34.1% 13 46.1% benign(0.227) deleterious(0.01) neutral(0.428) NULL SMARCA5 8467 genome.wustl.edu 37 4 144464780 144464780 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003601.2 +1 reviewed p.I674 0.917 93 0% 41 9.8% 59 27.1% - - - superfamily_SSF52540 SMARCA5 8467 genome.wustl.edu 37 4 144467183 144467183 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003601.2 +1 reviewed p.E835* 1.000 64 0% 26 23.1% 28 3.5% - - - HMMPfam_HAND,superfamily_Nucl_remodel_ATPase_ISWI_HAND,superfamily_SSF52540 FREM3 166752 genome.wustl.edu 37 4 144618286 144618286 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000329798 -1 known p.F1181L 1.000 166 0% 248 28.2% 0 - benign(0.009) tolerated(1) neutral(0.001) NULL FREM3 166752 genome.wustl.edu 37 4 144618415 144618415 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000329798 -1 known p.A1138 0.943 137 0% 153 25.5% 0 - - - - NULL FREM3 166752 genome.wustl.edu 37 4 144618712 144618712 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000329798 -1 known p.L1039 0.634 91 0% 136 32.4% 0 - - - - NULL FREM3 166752 genome.wustl.edu 37 4 144618852 144618852 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000329798 -1 known p.K993E 0.971 106 0% 172 9.9% 0 - benign(0.245) tolerated(0.62) neutral(0.029) NULL GYPA 2993 genome.wustl.edu 37 4 145061771 145061771 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002099.5 -1 reviewed p.I6 0.000 229 0% 91 8.8% 0 - - - - NULL HHIP 64399 genome.wustl.edu 37 4 145580934 145580934 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022475.1 +1 reviewed p.E259* 1.000 99 0% 56 37.5% 2 50% - - - superfamily_Soluble quinoprotein glucose dehydrogenase ABCE1 6059 genome.wustl.edu 37 4 146032180 146032180 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040876.1 +1 reviewed p.F225C 1.000 245 0% 127 47.2% 42 47.6% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases OTUD4 54726 genome.wustl.edu 37 4 146067458 146067458 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102653.1 -1 reviewed p.E396D 1.000 141 0% 100 34% 7 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL OTUD4 54726 genome.wustl.edu 37 4 146077089 146077089 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102653.1 -1 reviewed p.E165A 1.000 95 0% 59 22% 6 0% benign(0.001) tolerated(0.08) neutral(0.300) NULL OTUD4 54726 genome.wustl.edu 37 4 146095839 146095839 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102653.1 -1 reviewed p.R8* 1.000 163 0% 214 22.9% 4 25% - - - HMMPfam_OTU,superfamily_SSF54001 MMAA 166785 genome.wustl.edu 37 4 146575266 146575266 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172250.2 +1 reviewed p.R314C 0.999 127 0% 130 24.6% 10 30% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_ArgK,superfamily_P-loop containing nucleoside triphosphate hydrolases C4orf51 646603 genome.wustl.edu 37 4 146601423 146601423 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080531.1 +1 inferred p.F23C 0.964 126 0% 111 18.9% 0 - probably_damaging(0.989) - - NULL ZNF827 152485 genome.wustl.edu 37 4 146770713 146770713 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178835.3 -1 validated p.A661V 1.000 116 0% 79 34.2% 6 66.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SLC10A7 84068 genome.wustl.edu 37 4 147431081 147431081 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029998.3 -1 validated p.E102K 1.000 100 0% 75 13.3% 4 0% benign(0.007) tolerated(0.41) neutral(0.015) HMMPfam_SBF PRMT10 90826 genome.wustl.edu 37 4 148601559 148601559 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138364.2 -1 provisional p.D85Y 1.000 46 0% 83 31.3% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like ARHGAP10 79658 genome.wustl.edu 37 4 148786088 148786088 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024605.3 +1 validated p.K193T 1.000 196 0% 264 30.7% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARHGAP10 79658 genome.wustl.edu 37 4 148787911 148787911 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024605.3 +1 validated p.E216* 1.000 290 0% 299 32.4% 5 0% - - - NULL LRBA 987 genome.wustl.edu 37 4 151356750 151356750 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000509835 -1 known p.L997R 1.000 81 0% 55 16.4% 15 40% - - - HMMPfam_Beach,superfamily_BEACH domain LRBA 987 genome.wustl.edu 37 4 151509256 151509256 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006726.2 -1 validated p.E2103K 1.000 65 0% 85 29.4% 14 64.2% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_PH domain-like TIGD4 201798 genome.wustl.edu 37 4 153690689 153690689 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145720.2 -1 reviewed p.D490Y 0.998 67 0% 79 30.4% 1 0% possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL TRIM2 23321 genome.wustl.edu 37 4 154217164 154217164 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015271.3 +1 validated p.E496K 1.000 43 0% 49 40.8% 20 45% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) superfamily_NHL repeat TLR2 7097 genome.wustl.edu 37 4 154625132 154625132 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003264.3 +1 reviewed p.H358P 0.001 49 0% 21 42.9% 2 50% possibly_damaging(0.858) tolerated(0.12) deleterious(0.592) superfamily_SSF52058 DCHS2 54798 genome.wustl.edu 37 4 155155886 155155886 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017639.3 -1 validated p.P2851 0.000 86 0% 60 21.7% 5 40% - - - NULL DCHS2 54798 genome.wustl.edu 37 4 155156578 155156578 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017639.3 -1 validated p.S2621R 0.006 124 0% 62 16.1% 6 16.6% benign(0.002) tolerated(0.19) neutral(0.050) NULL DCHS2 54798 genome.wustl.edu 37 4 155180891 155180891 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017639.3 -1 validated p.E1744* 1.000 101 0% 55 36.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155237002 155237002 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017639.3 -1 validated p.E1265* 0.262 169 0% 59 30.5% 3 33.3% - - - HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155278400 155278400 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017639.3 -1 validated p.E257 0.002 136 0% 73 35.6% 0 - - - - superfamily_Cadherin-like PLRG1 5356 genome.wustl.edu 37 4 155457862 155457862 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002669.2 -1 provisional p.E507A 1.000 133 0% 41 34.1% 22 45.4% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) superfamily_WD40 repeat-like FGB 2244 genome.wustl.edu 37 4 155488963 155488963 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005141.4 +1 reviewed p.S237P 1.000 74 0% 39 33.3% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGA 2243 genome.wustl.edu 37 4 155505313 155505313 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000508.3 -1 reviewed p.A855D 0.002 72 0% 40 22.5% 0 - probably_damaging(0.986) tolerated(0.26) deleterious(0.469) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGA 2243 genome.wustl.edu 37 4 155507993 155507993 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000508.3 -1 reviewed p.D196 1.000 146 0% 63 30.2% 0 - - - - HMMPfam_Fib_alpha FGA 2243 genome.wustl.edu 37 4 155510071 155510071 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000508.3 -1 reviewed p.D80Y 1.000 189 0% 73 24.7% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_Fib_alpha LRAT 9227 genome.wustl.edu 37 4 155670267 155670267 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004744.3 +1 reviewed p.F224L 0.932 275 0% 331 27.8% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RBM46 166863 genome.wustl.edu 37 4 155719167 155719167 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144979.3 +1 validated p.R119K 0.999 238 0% 200 31.5% 0 - benign(0) tolerated(1) - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 MAP9 79884 genome.wustl.edu 37 4 156278604 156278604 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039580.1 -1 validated p.A373V 0.702 279 0% 85 20% 5 100% benign(0.071) deleterious(0.02) neutral(0.388) NULL MAP9 79884 genome.wustl.edu 37 4 156294554 156294554 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039580.1 -1 validated p.K72R 0.915 119 0% 156 31.4% 1 100% probably_damaging(0.995) tolerated(0.14) deleterious(0.707) NULL TDO2 6999 genome.wustl.edu 37 4 156830159 156830159 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005651.2 +1 validated p.D142Y 1.000 80 0% 104 31.7% 3 0% possibly_damaging(0.908) deleterious(0.01) deleterious(0.767) HMMPfam_Trp_dioxygenase CTSO 1519 genome.wustl.edu 37 4 156849517 156849517 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001334.2 -1 reviewed p.A301V 1.000 141 0% 79 39.2% 13 30.7% benign(0) tolerated(1) - HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 TMEM144 55314 genome.wustl.edu 37 4 159136399 159136399 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018342.4 +1 validated p.N56D 1.000 337 0% 231 29.9% 8 62.5% benign(0.087) tolerated(0.25) neutral(0.043) HMMPfam_DUF1632 RXFP1 59350 genome.wustl.edu 37 4 159568002 159568002 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021634.2 +1 provisional p.R469C 1.000 177 0% 100 34% 0 - probably_damaging(0.96) deleterious(0.03) deleterious(0.768) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RAPGEF2 9693 genome.wustl.edu 37 4 160263070 160263070 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014247.2 +1 validated p.K802N 1.000 68 0% 59 25.4% 6 50% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160274695 160274695 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014247.2 +1 validated p.S1222Y 1.000 64 0% 90 32.2% 10 30% possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL FSTL5 56884 genome.wustl.edu 37 4 162841563 162841563 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020116.3 -1 validated p.F134L 1.000 173 0% 69 23.2% 18 44.4% probably_damaging(0.987) tolerated(0.33) neutral(0.461) NULL NAF1 92345 genome.wustl.edu 37 4 164061412 164061412 + Missense_Mutation SNP C C A rs191160551 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138386.2 -1 validated p.D281Y 1.000 177 0% 104 13.5% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAF1 NPY5R 4889 genome.wustl.edu 37 4 164272066 164272066 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006174.2 +1 provisional p.S214F 0.756 89 0% 87 26.4% 0 - possibly_damaging(0.852) tolerated(0.2) neutral(0.377) HMMPfam_7tm_1,superfamily_SSF81321 ANP32C 23520 genome.wustl.edu 37 4 165118613 165118613 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012403.1 -1 reviewed p.P84Q 1.000 254 0% 187 20.3% 0 - - - - superfamily_L domain-like TRIM61 391712 genome.wustl.edu 37 4 165890660 165890660 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012414.2 -1 validated p.Q165 0.000 530 0% 370 18.4% 0 - - - - NULL TRIM75 391714 genome.wustl.edu 37 4 165981353 165981353 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000322402 +1 known p.E352K 1.000 127 0% 74 32.4% 0 - - - - HMMPfam_SPRY,HMMSmart_SPRY TRIM75 391714 genome.wustl.edu 37 4 165981568 165981568 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000322402 +1 known p.E423D 0.018 157 0% 74 28.4% 0 - - - - HMMPfam_SPRY,HMMSmart_SPRY MSMO1 6307 genome.wustl.edu 37 4 166263098 166263098 + Nonstop_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006745.3 +1 reviewed p.*294Y 0.853 81 0% 48 25% 18 61.1% - - - NULL CPE 1363 genome.wustl.edu 37 4 166408598 166408598 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001873.2 +1 reviewed p.D328Y 1.000 160 0% 94 40.4% 69 55% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases TLL1 7092 genome.wustl.edu 37 4 166914030 166914030 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012464.3 +1 reviewed p.G119C 1.000 195 0% 103 33% 0 - probably_damaging(0.967) deleterious(0.02) deleterious(0.792) NULL TLL1 7092 genome.wustl.edu 37 4 166999135 166999135 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012464.3 +1 reviewed p.E799* 1.000 90 0% 21 33.3% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SPOCK3 50859 genome.wustl.edu 37 4 167656164 167656164 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016950.2 -1 validated p.D407N 0.997 453 0% 280 26.1% 0 - unknown(0) tolerated(0.16) - NULL DDX60 55601 genome.wustl.edu 37 4 169142976 169142976 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017631.5 -1 validated p.Q1627H 0.001 99 0% 39 46.2% 35 28.5% benign(0.002) tolerated(0.55) neutral(0.007) NULL DDX60L 91351 genome.wustl.edu 37 4 169343062 169343062 + Splice_Site SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012967.1 -1 validated e16-2 0.985 140 0% 53 32.1% 1 0% - - - - DDX60L 91351 genome.wustl.edu 37 4 169369826 169369826 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012967.1 -1 validated p.K367N 0.268 113 0% 118 30.5% 0 - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) NULL ENSG00000206613 0 genome.wustl.edu 37 4 169607834 169607834 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000383886 -1 novel NULL 0.000 65 0% 116 33.6% 0 - - - - - CBR4 84869 genome.wustl.edu 37 4 169923337 169923337 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032783.3 -1 validated p.K140 1.000 51 0% 51 27.5% 41 46.3% - - - HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains SH3RF1 57630 genome.wustl.edu 37 4 170017783 170017783 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020870.3 -1 reviewed p.E852* 1.000 208 0% 117 26.5% 30 16.6% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain SH3RF1 57630 genome.wustl.edu 37 4 170028269 170028269 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020870.3 -1 reviewed p.E743* 1.000 32 0% 29 27.6% 30 20% - - - NULL GALNT7 51809 genome.wustl.edu 37 4 174216610 174216610 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017423.2 +1 reviewed p.R273Q 1.000 140 0% 79 32.9% 17 47% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT7 51809 genome.wustl.edu 37 4 174219413 174219413 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017423.2 +1 reviewed p.E371D 1.000 87 0% 51 25.5% 8 25% probably_damaging(0.999) tolerated(0.31) deleterious(0.517) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases SAP30 8819 genome.wustl.edu 37 4 174294593 174294593 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003864.3 +1 reviewed p.R123Q 1.000 175 0% 329 32.2% 30 33.3% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL MORF4 10934 genome.wustl.edu 37 4 174537669 174537669 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006792.2 -1 validated p.P42 0.971 205 0% 127 33.1% 0 - - - - HMMPfam_MRG FBXO8 26269 genome.wustl.edu 37 4 175180934 175180934 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012180.2 -1 reviewed p.K124N 1.000 85 0% 66 22.7% 17 29.4% benign(0.025) deleterious(0.01) neutral(0.407) NULL CEP44 80817 genome.wustl.edu 37 4 175231080 175231080 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145314.1 +1 validated p.S253L 0.000 113 0% 55 25.5% 8 12.5% benign(0) tolerated(1) - NULL CEP44 80817 genome.wustl.edu 37 4 175231944 175231944 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145314.1 +1 validated p.F299C 0.000 119 0% 95 34.7% 5 60% benign(0.057) tolerated(0.06) neutral(0.326) NULL HPGD 3248 genome.wustl.edu 37 4 175413190 175413190 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000860.4 -1 reviewed p.G240C 1.000 158 0% 139 13.7% 1011 23% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAM29 11086 genome.wustl.edu 37 4 175898121 175898121 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130703.1 +1 reviewed p.E482A 0.999 90 0% 52 38.5% 0 - benign(0.176) tolerated(0.3) neutral(0.044) superfamily_Blood coagulation inhibitor (disintegrin),HMMSmart_SM00608 GPM6A 2823 genome.wustl.edu 37 4 176594881 176594881 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005277.3 -1 validated p.L113F 1.000 86 0% 38 34.2% 8 12.5% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Myelin_PLP WDR17 116966 genome.wustl.edu 37 4 177056416 177056416 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170710.4 +1 reviewed p.S443Y 1.000 141 0% 66 28.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_WD40,superfamily_Amine_DH_B_like,superfamily_WD40_like WDR17 116966 genome.wustl.edu 37 4 177071284 177071284 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170710.4 +1 reviewed p.S737Y 0.046 151 0% 76 30.3% 0 - benign(0.026) deleterious(0.05) neutral(0.346) NULL WDR17 116966 genome.wustl.edu 37 4 177082079 177082079 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170710.4 +1 reviewed p.N916K 1.000 100 0% 91 31.9% 0 - probably_damaging(0.964) tolerated(0.32) neutral(0.430) NULL WDR17 116966 genome.wustl.edu 37 4 177093534 177093534 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000443118 +1 known p.T311A 0.494 101 0% 81 39.5% 0 - - - - NULL WDR17 116966 genome.wustl.edu 37 4 177095772 177095772 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170710.4 +1 reviewed p.R1157* 1.000 180 0% 151 28.5% 0 - - - - NULL ASB5 140458 genome.wustl.edu 37 4 177136836 177136836 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080874.2 -1 reviewed p.R302Q 1.000 222 0% 110 39.1% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_SOCS_box VEGFC 7424 genome.wustl.edu 37 4 177650803 177650803 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000280193 -1 known p.K82T 1.000 202 0% 78 33.3% 7 14.2% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ODZ3 55714 genome.wustl.edu 37 4 183650309 183650309 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080477.1 +1 provisional p.P854S 0.998 114 0% 85 23.5% 0 - benign(0.022) tolerated(0.17) neutral(0.060) superfamily_ConA_like_lec_gl ODZ3 55714 genome.wustl.edu 37 4 183652277 183652277 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080477.1 +1 provisional p.I984 0.974 186 0% 119 28.6% 1 0% - - - superfamily_ConA_like_lec_gl ODZ3 55714 genome.wustl.edu 37 4 183658045 183658045 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080477.1 +1 provisional p.L1018I 0.997 144 0% 84 33.3% 0 - probably_damaging(0.995) tolerated(0.75) neutral(0.459) superfamily_ConA_like_lec_gl ODZ3 55714 genome.wustl.edu 37 4 183676005 183676005 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080477.1 +1 provisional p.I1495 1.000 65 0% 55 32.7% 1 0% - - - HMMPfam_NHL,superfamily_ConA_like_lec_gl,superfamily_SSF101898,superfamily_SSF63829 ODZ3 55714 genome.wustl.edu 37 4 183710487 183710487 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080477.1 +1 provisional p.I1849S 0.998 132 0% 164 11% 3 0% possibly_damaging(0.875) deleterious(0) deleterious(0.784) HMMPfam_RHS_repeat CDKN2AIP 55602 genome.wustl.edu 37 4 184367501 184367501 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000502924 +1 known NULL 1.000 77 0% 130 36.2% 15 40% - - - - CDKN2AIP 55602 genome.wustl.edu 37 4 184368109 184368109 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017632.2 +1 provisional p.F424L 0.003 117 0% 179 38.5% 12 58.3% unknown(0) tolerated(0.23) - NULL CDKN2AIP 55602 genome.wustl.edu 37 4 184368363 184368363 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017632.2 +1 provisional p.S509F 1.000 195 0% 349 33.2% 19 10.5% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_dsRNA-binding domain-like TRAPPC11 60684 genome.wustl.edu 37 4 184605359 184605359 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021942.4 +1 validated p.R450Q 1.000 178 0% 159 31.4% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL STOX2 56977 genome.wustl.edu 37 4 184932428 184932428 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020225.1 +1 provisional p.D813Y 1.000 57 0% 79 39.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CASP3 836 genome.wustl.edu 37 4 185552221 185552221 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004346.3 -1 reviewed p.D192N 1.000 85 0% 60 25% 41 29.2% possibly_damaging(0.854) deleterious(0.04) deleterious(0.678) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CASP3 836 genome.wustl.edu 37 4 185553050 185553050 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004346.3 -1 reviewed p.L118I 0.033 206 0% 102 25.5% 29 20.6% benign(0.026) tolerated(1) neutral(0.001) HMMPfam_Peptidase_C14,HMMSmart_SM00115,PatternScan_CASPASE_HIS,superfamily_Caspase-like CCDC111 201973 genome.wustl.edu 37 4 185599476 185599476 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152683.2 +1 validated p.F312C 1.000 86 0% 51 27.5% 5 60% possibly_damaging(0.767) - - NULL ACSL1 2180 genome.wustl.edu 37 4 185678788 185678788 + Splice_Site SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001995.2 -1 reviewed e19+1 1.000 180 0% 98 32.7% 2 100% - - - - SNX25 83891 genome.wustl.edu 37 4 186260581 186260581 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031953.2 +1 validated p.T491A 0.963 59 0% 44 29.5% 5 40% benign(0.002) tolerated(0.12) neutral(0.261) superfamily_PX UFSP2 55325 genome.wustl.edu 37 4 186329436 186329436 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018359.3 -1 validated p.E329* 1.000 144 0% 90 33.3% 21 9.5% - - - HMMPfam_Peptidase_C78 CCDC110 256309 genome.wustl.edu 37 4 186379328 186379328 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152775.3 -1 validated p.E805K 0.170 123 0% 72 34.7% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL CCDC110 256309 genome.wustl.edu 37 4 186379411 186379411 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152775.3 -1 validated p.K777T 0.930 170 0% 91 33% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL CCDC110 256309 genome.wustl.edu 37 4 186380143 186380143 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152775.3 -1 validated p.S533Y 0.642 331 0% 313 25.9% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL SORBS2 8470 genome.wustl.edu 37 4 186559260 186559260 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003603.5 -1 reviewed p.F293L 1.000 176 0% 352 38.4% 0 - benign(0) tolerated(0.2) neutral(0.049) NULL SORBS2 8470 genome.wustl.edu 37 4 186567890 186567890 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021069.4 -1 reviewed p.R206W 1.000 214 0% 221 34.4% 17 52.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM149A 25854 genome.wustl.edu 37 4 187084671 187084671 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006655.2 +1 validated p.L309 0.000 94 0% 106 25.5% 10 20% - - - NULL KLKB1 3818 genome.wustl.edu 37 4 187172468 187172468 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000892.3 +1 reviewed p.K285R 0.757 135 0% 190 25.8% 0 - benign(0.002) tolerated(0.89) - NULL MTNR1A 4543 genome.wustl.edu 37 4 187455253 187455253 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005958.3 -1 reviewed p.L215I 0.799 103 0% 103 30.1% 0 - benign(0.001) tolerated(0.83) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAT1 2195 genome.wustl.edu 37 4 187532732 187532732 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005245.3 -1 reviewed p.L3221I 1.000 70 0% 43 39.5% 53 18.8% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187554955 187554955 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005245.3 -1 reviewed p.F1402 1.000 147 0% 110 28.2% 20 15% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187629400 187629400 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005245.3 -1 reviewed p.E528* 1.000 78 0% 54 40.7% 6 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187629459 187629459 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005245.3 -1 reviewed p.V508A 1.000 82 0% 61 23% 4 25% benign(0.042) tolerated(0.05) neutral(0.348) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ZFP42 132625 genome.wustl.edu 37 4 188924281 188924281 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174900.3 +1 validated p.S107Y 0.998 98 0% 116 28.4% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL TRIML2 205860 genome.wustl.edu 37 4 189012746 189012746 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173553.1 -1 provisional p.K315N 0.000 97 0% 75 32% 0 - benign(0.021) tolerated(0.27) neutral(0.035) HMMPfam_SPRY PLEKHG4B 153478 genome.wustl.edu 37 5 156218 156218 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052909.3 +1 validated p.T391 0.000 49 0% 105 25.7% 34 41.1% - - - NULL SDHA 6389 genome.wustl.edu 37 5 233604 233604 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004168.2 +1 reviewed p.A303V 1.000 146 0% 224 14.3% 210 14.2% benign(0.077) tolerated(0.05) neutral(0.351) HMMPfam_FAD_binding_2,superfamily_FAD/NAD(P)-binding domain,superfamily_Succinate dehydrogenase/fumarate reductase flavoprotein catalytic domain EXOC3 11336 genome.wustl.edu 37 5 462138 462138 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007277.4 +1 reviewed p.C485* 1.000 87 0% 138 30.4% 50 20% - - - HMMPfam_Sec6 SLC9A3 6550 genome.wustl.edu 37 5 482708 482708 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004174.2 -1 validated p.F437 0.888 35 0% 67 28.4% 3 100% - - - HMMPfam_Na_H_Exchanger TRIP13 9319 genome.wustl.edu 37 5 896786 896786 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004237.3 +1 reviewed p.D89N 0.933 179 0% 323 30.7% 17 17.6% benign(0.001) tolerated(0.58) neutral(0.005) NULL SLC6A19 340024 genome.wustl.edu 37 5 1216961 1216961 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001003841.2 +1 reviewed p.E358D 1.000 41 0% 73 27.4% 0 - benign(0) tolerated(0.55) neutral(0.007) HMMPfam_SNF SLC6A19 340024 genome.wustl.edu 37 5 1221824 1221824 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001003841.2 +1 reviewed p.F570L 0.997 118 0% 182 10.4% 0 - probably_damaging(0.999) tolerated(0.62) deleterious(0.494) HMMPfam_SNF SLC6A3 6531 genome.wustl.edu 37 5 1409232 1409232 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001044.4 -1 reviewed p.I469 1.000 42 0% 109 29.4% 0 - - - - HMMPfam_SNF SLC6A3 6531 genome.wustl.edu 37 5 1416266 1416266 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001044.4 -1 reviewed p.F326 0.992 80 0% 172 29.1% 0 - - - - HMMPfam_SNF IRX2 153572 genome.wustl.edu 37 5 2749569 2749569 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134222.1 -1 validated p.G194 0.953 203 0% 294 35% 3 0% - - - NULL IRX1 79192 genome.wustl.edu 37 5 3600335 3600335 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024337.3 +1 validated p.G425* 0.006 21 0% 29 17.2% 0 - - - - NULL ADAMTS16 170690 genome.wustl.edu 37 5 5209294 5209294 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139056.2 +1 reviewed p.A514S 1.000 100 0% 80 38.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ADAMTS16 170690 genome.wustl.edu 37 5 5242232 5242232 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139056.2 +1 reviewed p.K864Q 0.110 69 0% 69 30.4% 0 - benign(0.049) tolerated(0.64) neutral(0.006) NULL ADAMTS16 170690 genome.wustl.edu 37 5 5262781 5262781 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139056.2 +1 reviewed p.V892M 0.037 63 0% 75 44% 0 - benign(0.116) tolerated(0.15) neutral(0.250) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat KIAA0947 23379 genome.wustl.edu 37 5 5461042 5461042 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015325.1 +1 validated p.S532F 0.000 105 0% 105 32.4% 9 22.2% benign(0.002) tolerated(1) - NULL KIAA0947 23379 genome.wustl.edu 37 5 5463596 5463596 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015325.1 +1 validated p.E1383 0.246 38 0% 32 31.2% 22 27.2% - - - NULL NSUN2 54888 genome.wustl.edu 37 5 6620247 6620247 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017755.4 -1 validated p.D263Y 1.000 102 0% 78 28.2% 48 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53335 MTRR 4552 genome.wustl.edu 37 5 7878243 7878243 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000510525 +1 known p.R205* 0.003 112 0.9% 83 33.7% 8 37.5% - - - NULL SEMA5A 9037 genome.wustl.edu 37 5 9108301 9108301 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003966.2 -1 reviewed p.A675V 1.000 62 0% 58 32.8% 6 16.6% possibly_damaging(0.653) tolerated(1) neutral(0.230) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 SEMA5A 9037 genome.wustl.edu 37 5 9122940 9122940 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003966.2 -1 reviewed p.L537F 1.000 20 0% 27 22.2% 11 27.2% benign(0.25) tolerated(0.05) neutral(0.371) superfamily_Plexin-like_fold CMBL 134147 genome.wustl.edu 37 5 10282363 10282363 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138809.3 -1 validated p.K168N 1.000 112 0% 103 35% 35 45.7% benign(0.006) tolerated(0.22) neutral(0.042) HMMPfam_DLH,superfamily_SSF53474 ROPN1L 83853 genome.wustl.edu 37 5 10450172 10450172 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031916.3 +1 reviewed p.N122H 0.000 112 0% 191 33% 0 - possibly_damaging(0.44) deleterious(0.02) deleterious(0.526) NULL CTNND2 1501 genome.wustl.edu 37 5 11111152 11111152 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001332.2 -1 validated p.V761I 1.000 44 0% 23 34.8% 1 100% benign(0.001) tolerated(0.11) neutral(0.272) HMMSmart_SM00185,superfamily_ARM repeat CTNND2 1501 genome.wustl.edu 37 5 11117571 11117571 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001332.2 -1 validated p.I756 1.000 116 0% 72 38.9% 0 - - - - HMMSmart_SM00185,superfamily_ARM repeat CTNND2 1501 genome.wustl.edu 37 5 11411748 11411748 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001332.2 -1 validated p.I113 0.999 125 0.8% 35 28.6% 1 0% - - - NULL CTNND2 1501 genome.wustl.edu 37 5 11411753 11411753 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001332.2 -1 validated p.D112Y 1.000 126 1.6% 33 27.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL DNAH5 1767 genome.wustl.edu 37 5 13700881 13700881 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.E4531* 1.000 139 0% 65 36.9% 0 - - - - HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13716596 13716596 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.Q4303 1.000 117 0% 66 37.9% 0 - - - - HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13735262 13735262 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.E3913D 0.998 127 0% 54 31.5% 0 - benign(0.002) tolerated(0.54) neutral(0.007) NULL DNAH5 1767 genome.wustl.edu 37 5 13735295 13735295 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.K3902N 1.000 136 0.7% 55 10.9% 0 - possibly_damaging(0.948) tolerated(0.12) deleterious(0.651) NULL DNAH5 1767 genome.wustl.edu 37 5 13754448 13754448 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed e62-1 1.000 105 0% 54 35.2% 0 - - - - - DNAH5 1767 genome.wustl.edu 37 5 13788895 13788895 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.K2859N 0.187 145 0% 76 18.4% 0 - benign(0.045) tolerated(0.3) neutral(0.031) superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13794156 13794156 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.E2633D 1.000 147 0% 97 23.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13814769 13814769 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.R2392I 1.000 79 0% 81 30.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13839571 13839571 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.E1926K 1.000 98 0% 71 43.7% 0 - benign(0.111) tolerated(0.1) neutral(0.295) NULL DNAH5 1767 genome.wustl.edu 37 5 13841982 13841982 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.Q1768R 1.000 111 0% 57 31.6% 0 - benign(0) tolerated(0.64) neutral(0.003) HMMPfam_DHC_N2 DNAH5 1767 genome.wustl.edu 37 5 13867887 13867887 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.D1350V 1.000 98 0% 42 31% 0 - benign(0.009) tolerated(0.15) neutral(0.241) NULL DNAH5 1767 genome.wustl.edu 37 5 13900476 13900476 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.A700T 1.000 104 0% 65 24.6% 0 - benign(0.007) tolerated(0.3) neutral(0.029) HMMPfam_DHC_N1 DNAH5 1767 genome.wustl.edu 37 5 13902196 13902196 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001369.2 -1 reviewed p.N566D 1.000 104 0% 48 31.2% 0 - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_DHC_N1 TRIO 7204 genome.wustl.edu 37 5 14363897 14363897 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007118.2 +1 validated p.F816 1.000 94 0% 106 26.4% 12 66.6% - - - NULL TRIO 7204 genome.wustl.edu 37 5 14482807 14482807 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007118.2 +1 validated p.I2194 0.446 115 0% 148 29.7% 27 55.5% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ANKH 56172 genome.wustl.edu 37 5 14749348 14749348 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_054027.4 -1 reviewed p.R252I 1.000 112 0% 118 28.8% 53 28.3% probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_ANKH LOC402198 402198 genome.wustl.edu 37 5 14961187 14961187 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001716525.1 +1 model p.H346Q 1.000 17 0% 30 36.7% 0 - - - - HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like FBXL7 23194 genome.wustl.edu 37 5 15616178 15616178 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012304.3 +1 reviewed p.E42K 1.000 88 1.1% 53 39.6% 5 20% benign(0.077) tolerated(0.19) neutral(0.055) NULL ZNF622 90441 genome.wustl.edu 37 5 16465444 16465444 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033414.2 -1 provisional p.E111* 0.998 131 0% 225 30.7% 26 0% - - - NULL MYO10 4651 genome.wustl.edu 37 5 16680187 16680187 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012334.2 -1 validated p.R1471C 1.000 120 0% 65 24.6% 35 34.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 CDH12 1010 genome.wustl.edu 37 5 21755724 21755724 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004061.3 -1 reviewed p.L621I 1.000 108 0% 76 34.2% 2 100% benign(0.019) deleterious(0.03) neutral(0.365) NULL CDH12 1010 genome.wustl.edu 37 5 21783593 21783593 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004061.3 -1 reviewed p.D423Y 1.000 222 0% 66 22.7% 2 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PRDM9 56979 genome.wustl.edu 37 5 23509604 23509604 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020227.2 +1 provisional p.S32Y 0.986 320 0% 283 33.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box PRDM9 56979 genome.wustl.edu 37 5 23510107 23510107 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020227.2 +1 provisional p.S91Y 0.999 181 0% 183 35.5% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL PRDM9 56979 genome.wustl.edu 37 5 23521195 23521195 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020227.2 +1 provisional p.L139V 0.000 181 0% 100 32% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CDH10 1008 genome.wustl.edu 37 5 24487810 24487810 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006727.2 -1 reviewed p.E777* 0.999 122 0% 43 30.2% 0 - - - - HMMPfam_Cadherin_C CDH10 1008 genome.wustl.edu 37 5 24509783 24509783 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006727.2 -1 reviewed p.V383A 0.994 152 0% 125 34.4% 0 - benign(0.146) tolerated(0.08) neutral(0.312) HMMSmart_CA,superfamily_Cadherin CDH10 1008 genome.wustl.edu 37 5 24537726 24537726 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006727.2 -1 reviewed p.G97R 1.000 157 0% 32 43.8% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH9 1007 genome.wustl.edu 37 5 26902613 26902613 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016279.3 -1 reviewed p.D409N 1.000 143 0% 79 44.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DROSHA 29102 genome.wustl.edu 37 5 31515591 31515591 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013235.4 -1 validated p.S343Y 1.000 57 0% 24 16.7% 8 25% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL C5orf22 55322 genome.wustl.edu 37 5 31538513 31538513 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018356.2 +1 validated p.S175Y 0.922 70 0% 60 10% 8 25% possibly_damaging(0.716) deleterious(0.01) deleterious(0.665) NULL C5orf22 55322 genome.wustl.edu 37 5 31538782 31538782 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018356.2 +1 validated p.E265* 1.000 125 0% 69 34.8% 3 0% - - - NULL PDZD2 23037 genome.wustl.edu 37 5 31799712 31799712 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178140.2 +1 reviewed p.I119 1.000 75 0% 83 26.5% 0 - - - - HMMSmart_SM00228,superfamily_PDZ domain-like PDZD2 23037 genome.wustl.edu 37 5 31799770 31799770 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178140.2 +1 reviewed p.R139W 1.000 88 0% 90 31.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00228,superfamily_PDZ domain-like PDZD2 23037 genome.wustl.edu 37 5 32088637 32088637 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178140.2 +1 reviewed p.E1695* 0.001 58 0% 97 33% 2 0% - - - NULL PDZD2 23037 genome.wustl.edu 37 5 32088901 32088901 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178140.2 +1 reviewed p.L1783M 0.001 97 0% 142 22.5% 0 - possibly_damaging(0.924) deleterious(0) deleterious(0.818) NULL MTMR12 54545 genome.wustl.edu 37 5 32248893 32248893 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040446.1 -1 reviewed p.K294T 1.000 131 0% 96 34.4% 14 28.5% probably_damaging(0.991) tolerated(0.39) neutral(0.460) HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II MTMR12 54545 genome.wustl.edu 37 5 32274182 32274182 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040446.1 -1 reviewed p.Q63H 1.000 117 0% 76 27.6% 22 45.4% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_PH domain-like ZFR 51663 genome.wustl.edu 37 5 32397417 32397417 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016107.3 -1 validated p.R581W 1.000 149 0% 87 33.3% 47 51% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TARS 6897 genome.wustl.edu 37 5 33458708 33458708 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152295.3 +1 reviewed p.G341V 1.000 332 0% 139 31.7% 79 48.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Class II aaRS and biotin synthetases ADAMTS12 81792 genome.wustl.edu 37 5 33535030 33535030 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030955.2 -1 reviewed p.K1505T 0.191 186 0% 119 31.9% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat TTC23L 153657 genome.wustl.edu 37 5 34850317 34850317 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144725.3 +1 validated p.R95* 1.000 133 0.8% 62 22.6% 0 - - - - NULL RAD1 5810 genome.wustl.edu 37 5 34908820 34908820 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026591.1 -1 reviewed NULL 0.000 48 0% 47 36.2% 14 35.7% - - - - RAD1 5810 genome.wustl.edu 37 5 34908989 34908989 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002853.3 -1 reviewed p.R244W 1.000 72 0% 74 37.8% 27 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rad1,superfamily_DNA clamp BRIX1 55299 genome.wustl.edu 37 5 34925334 34925334 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018321.3 +1 validated p.R266W 1.000 29 0% 38 52.6% 63 39.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRLR 5618 genome.wustl.edu 37 5 35072709 35072709 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000949.4 -1 validated p.R171* 1.000 184 0% 126 9.5% 30 0% - - - PatternScan_HEMATOPO_REC_L_F1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SPEF2 79925 genome.wustl.edu 37 5 35694416 35694416 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024867.3 +1 validated p.G642 0.000 184 0% 74 27% 3 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SPEF2 79925 genome.wustl.edu 37 5 35740278 35740278 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024867.3 +1 validated p.F1080C 1.000 206 0% 103 28.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL UGT3A1 133688 genome.wustl.edu 37 5 35965650 35965650 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152404.3 -1 validated p.E227D 0.966 148 0% 90 37.8% 0 - possibly_damaging(0.767) deleterious(0.04) deleterious(0.633) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT3A2 167127 genome.wustl.edu 37 5 36037940 36037940 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174914.3 -1 validated p.E418D 0.630 136 0% 191 28.8% 1 0% benign(0.008) tolerated(0.32) neutral(0.024) HMMPfam_UDPGT,superfamily_SSF53756 LMBRD2 92255 genome.wustl.edu 37 5 36111272 36111272 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007527.1 -1 validated p.E577* 1.000 111 0% 58 27.6% 1 0% - - - NULL LMBRD2 92255 genome.wustl.edu 37 5 36122537 36122537 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007527.1 -1 validated p.R322Q 1.000 76 0% 39 33.3% 1 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_LMBR1 SKP2 6502 genome.wustl.edu 37 5 36168422 36168422 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005983.2 +1 reviewed p.R182C 0.987 231 0% 107 28% 40 55% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_RNI-like SLC1A3 6507 genome.wustl.edu 37 5 36629649 36629649 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004172.4 +1 reviewed p.Q93H 1.000 324 0% 164 34.8% 6 16.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1 NIPBL 25836 genome.wustl.edu 37 5 36976132 36976132 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133433.3 +1 reviewed p.D375N 1.000 120 0.8% 91 45.1% 10 40% probably_damaging(0.97) tolerated(0.06) deleterious(0.735) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37022485 37022485 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133433.3 +1 reviewed p.R1856I 1.000 184 0% 173 25.4% 17 52.9% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM repeat C5orf42 65250 genome.wustl.edu 37 5 37157783 37157783 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023073.3 -1 predicted p.F1547C 0.000 92 0% 112 30.4% 2 0% possibly_damaging(0.903) deleterious(0) deleterious(0.802) NULL C5orf42 65250 genome.wustl.edu 37 5 37245882 37245882 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000508244 -1 known p.K49 0.888 150 0% 213 33.3% 1 0% - - - NULL EGFLAM 133584 genome.wustl.edu 37 5 38407018 38407018 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152403.2 +1 validated p.S306Y 0.110 213 0% 115 32.2% 1 0% benign(0) tolerated(0.26) neutral(0.034) NULL EGFLAM 133584 genome.wustl.edu 37 5 38412682 38412682 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152403.2 +1 validated p.L476I 0.142 71 0% 37 43.2% 0 - benign(0) tolerated(0.7) neutral(0.002) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 LIFR 3977 genome.wustl.edu 37 5 38493714 38493714 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127671.1 -1 reviewed p.E687* 0.897 72 0% 65 23.1% 0 - - - - superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38510734 38510734 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127671.1 -1 reviewed p.E275* 0.258 91 0% 40 42.5% 0 - - - - NULL LIFR 3977 genome.wustl.edu 37 5 38530697 38530697 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127671.1 -1 reviewed p.K18R 0.000 136 0% 47 25.5% 0 - benign(0.006) tolerated(0.08) neutral(0.300) NULL OSMR 9180 genome.wustl.edu 37 5 38924617 38924617 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003999.2 +1 reviewed p.G655D 0.117 131 0% 69 27.5% 7 14.2% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMSmart_SM00060,superfamily_Fibronectin type III OSMR 9180 genome.wustl.edu 37 5 38933143 38933143 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003999.2 +1 reviewed p.N846T 0.006 105 0% 85 27.1% 8 0% benign(0.03) tolerated(0.1) neutral(0.288) NULL FYB 2533 genome.wustl.edu 37 5 39118978 39118978 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001465.3 -1 validated p.K800T 1.000 290 0% 113 10.6% 7 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_SH3-domain,HMMPfam_SH3_2 FYB 2533 genome.wustl.edu 37 5 39134388 39134388 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001465.3 -1 validated p.S580Y 0.030 220 0% 98 37.8% 9 0% possibly_damaging(0.8) deleterious(0.01) deleterious(0.707) NULL C9 735 genome.wustl.edu 37 5 39316045 39316045 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001737.3 -1 reviewed p.N234K 0.168 176 0% 55 34.5% 0 - benign(0.022) tolerated(0.42) neutral(0.015) NULL DAB2 1601 genome.wustl.edu 37 5 39383176 39383176 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001343.2 -1 validated p.F295L 1.000 187 0% 72 29.2% 15 0% probably_damaging(0.967) tolerated(0.1) deleterious(0.696) NULL DAB2 1601 genome.wustl.edu 37 5 39383331 39383331 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001343.2 -1 validated p.D244N 1.000 144 0% 80 35% 19 5.2% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL DAB2 1601 genome.wustl.edu 37 5 39393354 39393354 + Splice_Site SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001343.2 -1 validated e2+2 1.000 354 0% 145 26.2% 0 - - - - - TTC33 23548 genome.wustl.edu 37 5 40716594 40716594 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012382.2 -1 validated p.R148* 1.000 100 0% 73 32.9% 10 10% - - - HMMSmart_SM00028,superfamily_TPR-like CARD6 84674 genome.wustl.edu 37 5 40843253 40843253 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032587.3 +1 reviewed e2-1 0.965 46 0% 39 17.9% 0 - - - - - CARD6 84674 genome.wustl.edu 37 5 40843492 40843492 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032587.3 +1 reviewed p.V174 0.009 62 0% 42 26.2% 0 - - - - NULL CARD6 84674 genome.wustl.edu 37 5 40854253 40854253 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032587.3 +1 reviewed p.S940Y 0.992 206 0% 182 27.5% 2 50% possibly_damaging(0.681) deleterious(0.01) deleterious(0.649) NULL C7 730 genome.wustl.edu 37 5 40959673 40959673 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000587.2 +1 reviewed p.E538* 0.997 106 0% 43 37.2% 0 - - - - HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 HEATR7B2 133558 genome.wustl.edu 37 5 41000845 41000845 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173489.4 -1 validated p.E1429* 1.000 158 0% 57 29.8% 0 - - - - superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41019092 41019092 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173489.4 -1 validated p.D824Y 0.324 156 0% 80 30% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41039627 41039627 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173489.4 -1 validated p.E662K 0.825 81 0% 34 26.5% 0 - probably_damaging(0.994) tolerated(0.43) neutral(0.466) superfamily_ARM repeat GHR 2690 genome.wustl.edu 37 5 42700072 42700072 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000163.2 +1 reviewed p.Y196D 1.000 77 0% 30 40% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) PatternScan_HEMATOPO_REC_L_F1,HMMPfam_fn3,superfamily_Fibronectin type III GHR 2690 genome.wustl.edu 37 5 42713533 42713533 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000163.2 +1 reviewed p.F263L 0.997 405 0% 221 40.7% 0 - possibly_damaging(0.574) tolerated(0.08) deleterious(0.497) NULL CCDC152 100129792 genome.wustl.edu 37 5 42759295 42759295 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134848.1 +1 validated p.F24L 1.000 73 0% 78 29.5% 0 - benign(0.368) deleterious(0) deleterious(0.561) NULL ANXA2R 389289 genome.wustl.edu 37 5 43040035 43040035 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001014279.2 -1 validated p.L38 0.000 38 0% 48 31.2% 5 20% - - - NULL C5orf34 375444 genome.wustl.edu 37 5 43490760 43490760 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000306862 -1 known p.S551L 0.006 96 0% 72 43.1% 2 50% benign(0.046) tolerated(0.44) neutral(0.015) NULL C5orf34 375444 genome.wustl.edu 37 5 43492341 43492341 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000306862 -1 known p.I519S 0.979 126 0% 99 39.4% 5 20% benign(0.009) deleterious(0.02) neutral(0.384) NULL PAIP1 10605 genome.wustl.edu 37 5 43529902 43529902 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006451.4 -1 reviewed p.S444 0.995 192 0% 193 31.1% 31 61.2% - - - NULL HCN1 348980 genome.wustl.edu 37 5 45267197 45267197 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021072.2 -1 validated p.R593* 1.000 106 0% 126 30.2% 0 - - - - superfamily_cNMP_binding EMB 133418 genome.wustl.edu 37 5 49699234 49699234 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198449.2 -1 reviewed p.E219K 1.000 137 0% 43 30.2% 4 0% possibly_damaging(0.676) tolerated(0.51) neutral(0.249) HMMSmart_SM00409,superfamily_Immunoglobulin PARP8 79668 genome.wustl.edu 37 5 50118223 50118223 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024615.3 +1 validated p.E617* 1.000 113 0% 41 36.6% 19 5.2% - - - NULL ARL15 54622 genome.wustl.edu 37 5 53467635 53467635 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019087.2 -1 validated p.D58N 0.998 56 0% 49 34.7% 9 33.3% possibly_damaging(0.879) tolerated(0.12) deleterious(0.603) HMMPfam_Arf,superfamily_SSF52540 SNX18 112574 genome.wustl.edu 37 5 53814982 53814982 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052870.2 +1 reviewed p.D400 0.992 49 0% 70 22.9% 15 33.3% - - - HMMPfam_BAR_3_WASP_bdg GPX8 493869 genome.wustl.edu 37 5 54457005 54457005 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008397.2 +1 validated p.Y130D 1.000 79 0% 59 28.8% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GSHPx,superfamily_Thioredoxin-like DHX29 54505 genome.wustl.edu 37 5 54566428 54566428 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019030.2 -1 validated p.F991L 1.000 95 0% 48 39.6% 17 41.1% possibly_damaging(0.661) deleterious(0.01) deleterious(0.639) superfamily_SSF52540 SKIV2L2 23517 genome.wustl.edu 37 5 54624638 54624638 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015360.4 +1 validated p.E172K 1.000 176 0% 104 22.1% 9 66.6% benign(0.065) deleterious(0.02) neutral(0.388) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 PPAP2A 8611 genome.wustl.edu 37 5 54771275 54771275 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003711.2 -1 reviewed p.G21E 1.000 131 0% 73 21.9% 38 7.8% benign(0.138) deleterious(0.04) neutral(0.360) superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase DDX4 54514 genome.wustl.edu 37 5 55086459 55086459 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024415.2 +1 validated p.R410* 1.000 171 0% 125 30.4% 0 - - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX4 54514 genome.wustl.edu 37 5 55094372 55094372 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024415.2 +1 validated p.K530Q 0.993 234 0% 167 37.7% 0 - possibly_damaging(0.736) tolerated(0.23) neutral(0.310) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX4 54514 genome.wustl.edu 37 5 55110860 55110860 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024415.2 +1 validated p.D616V 1.000 214 0% 194 27.3% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX4 54514 genome.wustl.edu 37 5 55112314 55112314 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024415.2 +1 validated p.A707 0.946 144 0% 135 28.9% 0 - - - - NULL IL31RA 133396 genome.wustl.edu 37 5 55168172 55168172 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139017.4 +1 validated p.F116S 0.000 139 0% 103 29.1% 0 - benign(0.071) tolerated(0.41) neutral(0.020) HMMSmart_FN3,superfamily_FN_III-like IL31RA 133396 genome.wustl.edu 37 5 55212584 55212584 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139017.4 +1 validated p.F644S 0.998 112 0% 78 28.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANKRD55 79722 genome.wustl.edu 37 5 55472102 55472102 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024669.2 -1 validated p.T63 0.579 50 0% 30 26.7% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PDE4D 5144 genome.wustl.edu 37 5 58273031 58273031 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001104631.1 -1 validated p.M565R 1.000 196 0% 88 31.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like PDE4D 5144 genome.wustl.edu 37 5 58481072 58481072 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001104631.1 -1 validated p.R234Q 1.000 119 0% 56 33.9% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL PDE4D 5144 genome.wustl.edu 37 5 59284542 59284542 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000502484 -1 known p.A15 0.995 105 0% 35 31.4% 0 - - - - NULL DEPDC1B 55789 genome.wustl.edu 37 5 59893587 59893587 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018369.2 -1 validated p.R528Q 1.000 237 0% 101 25.7% 14 35.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF2A 3796 genome.wustl.edu 37 5 61669650 61669650 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098511.1 +1 validated p.L633I 1.000 246 0% 144 15.3% 16 37.5% possibly_damaging(0.912) tolerated(0.17) neutral(0.422) NULL IPO11 51194 genome.wustl.edu 37 5 61766097 61766097 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134779.1 +1 validated p.N264H 1.000 243 0% 118 25.4% 2 50% benign(0) tolerated(0.66) neutral(0.003) superfamily_ARM repeat IPO11 51194 genome.wustl.edu 37 5 61822043 61822043 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134779.1 +1 validated p.Q697 1.000 172 0% 126 34.1% 2 50% - - - superfamily_ARM repeat HTR1A 3350 genome.wustl.edu 37 5 63256400 63256400 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000524.2 -1 validated p.A383T 1.000 63 0% 112 37.5% 0 - probably_damaging(0.975) tolerated(0.1) deleterious(0.704) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SREK1IP1 285672 genome.wustl.edu 37 5 64020233 64020233 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173829.3 -1 validated p.S149I 0.339 55 0% 35 22.9% 12 58.3% unknown(0) tolerated(0.13) - NULL ADAMTS6 11174 genome.wustl.edu 37 5 64510483 64510483 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000261306 -1 known p.E855* 1.000 24 0.000 9 0.444 4 75% - - - NULL PPWD1 23398 genome.wustl.edu 37 5 64878886 64878886 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015342.2 +1 validated p.D458Y 1.000 80 0% 46 28.3% 14 71.4% possibly_damaging(0.938) deleterious(0) deleterious(0.828) NULL TRIM23 373 genome.wustl.edu 37 5 64907521 64907521 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001656.3 -1 reviewed p.A185V 1.000 141 0% 62 32.3% 10 60% probably_damaging(0.979) tolerated(0.67) neutral(0.424) HMMSmart_SM00336 C5orf44 80006 genome.wustl.edu 37 5 64920769 64920769 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_003545.1 +1 validated NULL 0.000 69 0% 68 33.8% 8 25% - - - - C5orf44 80006 genome.wustl.edu 37 5 64931187 64931187 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001093755.1 +1 validated p.D36Y 1.000 127 0% 99 24.2% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAST4 375449 genome.wustl.edu 37 5 66460509 66460509 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000443808 +1 known p.R891C 0.000 69 0% 109 30.3% 8 25% - - - NULL CD180 4064 genome.wustl.edu 37 5 66479395 66479395 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005582.2 -1 validated p.D426N 1.000 186 0% 121 9.9% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like CD180 4064 genome.wustl.edu 37 5 66481705 66481705 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005582.2 -1 validated p.M77I 0.000 177 0% 77 29.9% 3 33.3% benign(0) tolerated(0.69) neutral(0.002) HMMSmart_SM00369,superfamily_L domain-like SLC30A5 64924 genome.wustl.edu 37 5 68425300 68425300 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000511158 +1 known p.E37G 1.000 89 0% 112 31.2% 67 44.7% - - - NULL CDK7 1022 genome.wustl.edu 37 5 68531245 68531245 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001799.3 +1 validated p.D31Y 1.000 291 0.3% 325 14.8% 35 8.5% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase RAD17 5884 genome.wustl.edu 37 5 68677857 68677857 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133339.1 +1 reviewed p.D172Y 1.000 75 1.3% 71 22.5% 9 44.4% possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) HMMPfam_Rad17,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD17 5884 genome.wustl.edu 37 5 68684956 68684956 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133339.1 +1 reviewed p.Q341H 1.000 233 0% 142 19% 7 42.8% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Rad17,superfamily_P-loop containing nucleoside triphosphate hydrolases BDP1 55814 genome.wustl.edu 37 5 70800527 70800527 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018429.2 +1 reviewed p.S774Y 0.001 174 0% 76 28.9% 1 0% benign(0.318) deleterious(0.04) neutral(0.449) NULL BDP1 55814 genome.wustl.edu 37 5 70806104 70806104 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018429.2 +1 reviewed p.T1062M 0.000 95 0% 64 29.7% 1 100% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL BDP1 55814 genome.wustl.edu 37 5 70807009 70807009 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000437938 +1 known p.L1364V 0.001 108 0% 61 32.8% 0 - - - - NULL MCCC2 64087 genome.wustl.edu 37 5 70944926 70944926 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022132.4 +1 reviewed p.F407V 1.000 138 0% 81 28.4% 40 72.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase CARTPT 9607 genome.wustl.edu 37 5 71015270 71015270 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004291.3 +1 reviewed p.E50D 1.000 40 0% 68 27.9% 0 - possibly_damaging(0.892) tolerated(0.09) deleterious(0.648) HMMPfam_CART MAP1B 4131 genome.wustl.edu 37 5 71491717 71491717 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005909.3 +1 validated p.A845 0.018 20 0% 16 25% 8 50% - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71494018 71494018 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005909.3 +1 validated p.E1612D 0.996 102 0% 64 28.1% 8 25% unknown(0) deleterious(0.03) - NULL MAP1B 4131 genome.wustl.edu 37 5 71494127 71494127 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005909.3 +1 validated p.F1649V 1.000 94 0% 61 24.6% 7 14.2% unknown(0) tolerated(0.11) - NULL ZNF366 167465 genome.wustl.edu 37 5 71739648 71739648 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152625.1 -1 provisional p.D724Y 1.000 99 0% 67 29.9% 0 - possibly_damaging(0.821) deleterious(0) deleterious(0.755) NULL TNPO1 3842 genome.wustl.edu 37 5 72201211 72201211 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002270.3 +1 reviewed p.R891C 1.000 300 0% 105 30.5% 25 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat BTF3 689 genome.wustl.edu 37 5 72798390 72798390 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037637.1 +1 reviewed p.K93N 1.000 125 0% 209 15.3% 724 17.5% possibly_damaging(0.949) deleterious(0.04) deleterious(0.742) HMMPfam_NAC ANKRA2 57763 genome.wustl.edu 37 5 72858633 72858633 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023039.3 -1 provisional p.T25I 0.455 105 0% 121 36.4% 10 30% benign(0.032) tolerated(0.06) neutral(0.324) NULL HEXB 3074 genome.wustl.edu 37 5 74001048 74001048 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000521.3 +1 reviewed p.A225V 1.000 227 0% 257 35.4% 76 34.2% possibly_damaging(0.458) tolerated(0.22) neutral(0.192) HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases ANKRD31 256006 genome.wustl.edu 37 5 74442421 74442421 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000274361 -1 known p.E939* 0.097 62 0% 23 34.8% 0 - - - - superfamily_ANK ANKRD31 256006 genome.wustl.edu 37 5 74518093 74518093 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000274361 -1 known p.S90N 0.001 178 0% 109 35.8% 0 - benign(0.001) - - NULL POC5 134359 genome.wustl.edu 37 5 74990490 74990490 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099271.1 -1 validated p.R227I 1.000 165 0% 172 32.6% 6 50% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL SV2C 22987 genome.wustl.edu 37 5 75597229 75597229 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014979.1 +1 provisional p.S620L 1.000 262 0% 138 39.9% 1 100% probably_damaging(0.984) tolerated(0.05) deleterious(0.776) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter IQGAP2 10788 genome.wustl.edu 37 5 75886364 75886364 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006633.2 +1 validated p.E258* 1.000 80 0% 52 44.2% 5 0% - - - NULL IQGAP2 10788 genome.wustl.edu 37 5 75902078 75902078 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006633.2 +1 validated p.I436T 1.000 131 0% 59 44.1% 9 0% possibly_damaging(0.943) deleterious(0) deleterious(0.832) NULL IQGAP2 10788 genome.wustl.edu 37 5 75993845 75993845 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006633.2 +1 validated p.R1414* 1.000 82 0% 43 20.9% 32 0% - - - HMMPfam_RasGAP_C F2R 2149 genome.wustl.edu 37 5 76028286 76028286 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001992.3 +1 reviewed p.P79H 0.000 167 0% 101 33.7% 10 0% benign(0.123) tolerated(0.08) neutral(0.310) superfamily_SSF81321 AGGF1 55109 genome.wustl.edu 37 5 76355440 76355440 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018046.3 +1 validated e12-1 1.000 85 0% 57 14% 0 - - - - - PDE8B 8622 genome.wustl.edu 37 5 76717775 76717775 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003719.2 +1 validated p.E794* 1.000 176 0% 68 29.4% 5 20% - - - HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE8B 8622 genome.wustl.edu 37 5 76721677 76721677 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003719.2 +1 validated p.S835Y 1.000 164 0% 52 26.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like AP3B1 8546 genome.wustl.edu 37 5 77396843 77396843 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003664.3 -1 reviewed p.E802* 1.000 147 0% 199 29.6% 24 12.5% - - - NULL AP3B1 8546 genome.wustl.edu 37 5 77512007 77512007 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003664.3 -1 reviewed p.D220Y 1.000 196 0% 178 33.1% 7 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat DMGDH 29958 genome.wustl.edu 37 5 78326805 78326805 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013391.2 -1 reviewed p.T512A 1.000 84 0% 68 30.9% 0 - possibly_damaging(0.941) tolerated(0.44) neutral(0.399) superfamily_Aminomethyltransferase folate-binding domain BHMT2 23743 genome.wustl.edu 37 5 78376631 78376631 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017614.4 +1 reviewed p.R127I 0.982 157 0% 114 61.4% 0 - possibly_damaging(0.806) deleterious(0.02) deleterious(0.686) HMMPfam_S-methyl_trans,superfamily_S_methyl_trans BHMT 635 genome.wustl.edu 37 5 78415199 78415199 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001713.2 +1 reviewed p.S95Y 1.000 72 0% 114 22.8% 0 - benign(0.196) deleterious(0.02) neutral(0.402) HMMPfam_S-methyl_trans,superfamily_S_methyl_trans JMY 133746 genome.wustl.edu 37 5 78608235 78608235 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152405.4 +1 validated p.K660E 0.321 98 0% 38 47.4% 6 66.6% possibly_damaging(0.601) tolerated(0.18) neutral(0.264) NULL HOMER1 9456 genome.wustl.edu 37 5 78697756 78697756 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004272.3 -1 validated p.A217V 1.000 145 0% 73 17.8% 6 16.6% probably_damaging(0.954) tolerated(0.31) neutral(0.425) NULL CMYA5 202333 genome.wustl.edu 37 5 79030238 79030238 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153610.3 +1 validated p.E1884* 0.137 83 0% 32 25% 1 100% - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79031882 79031882 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153610.3 +1 validated p.E2432* 0.974 61 0% 20 20% 1 0% - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79032884 79032884 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153610.3 +1 validated p.E2766* 0.000 108 0% 69 31.9% 1 0% - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79033766 79033766 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153610.3 +1 validated p.D3060Y 1.000 108 0% 55 23.6% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CMYA5 202333 genome.wustl.edu 37 5 79039696 79039696 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153610.3 +1 validated p.R3562M 1.000 199 0% 60 21.7% 1 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL CMYA5 202333 genome.wustl.edu 37 5 79084910 79084910 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153610.3 +1 validated p.A3891V 1.000 88 0% 131 32.1% 2 50% probably_damaging(0.974) deleterious(0.04) deleterious(0.765) superfamily_FN_III-like CMYA5 202333 genome.wustl.edu 37 5 79095425 79095425 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153610.3 +1 validated p.V4066I 0.945 87 0% 32 43.8% 1 0% possibly_damaging(0.602) deleterious(0.03) deleterious(0.573) NULL THBS4 7060 genome.wustl.edu 37 5 79335971 79335971 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003248.4 +1 reviewed p.A54T 0.703 105 0% 131 32.1% 0 - benign(0) tolerated(0.9) - HMMSmart_TSPN THBS4 7060 genome.wustl.edu 37 5 79351711 79351711 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003248.4 +1 reviewed p.S132R 1.000 100 0% 110 36.4% 4 0% benign(0.059) tolerated(0.81) neutral(0.005) HMMSmart_TSPN SPZ1 84654 genome.wustl.edu 37 5 79616365 79616365 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032567.3 +1 validated p.E111* 0.025 64 0% 63 25.4% 0 - - - - NULL FAM151B 167555 genome.wustl.edu 37 5 79817846 79817846 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_205548.1 +1 predicted p.E187A 0.905 105 0% 76 38.2% 1 100% benign(0.265) tolerated(0.61) neutral(0.032) HMMPfam_DUF2181 ANKRD34B 340120 genome.wustl.edu 37 5 79854784 79854784 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004441.2 -1 validated p.A352D 0.252 76 0% 41 39% 0 - possibly_damaging(0.517) tolerated(0.08) deleterious(0.474) NULL DHFR 1719 genome.wustl.edu 37 5 79945224 79945224 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000791.3 -1 reviewed p.L76I 1.000 99 0% 144 33.3% 11 81.8% possibly_damaging(0.436) tolerated(0.08) neutral(0.442) HMMPfam_DHFR_1,superfamily_Dihydrofolate reductases MSH3 4437 genome.wustl.edu 37 5 79952270 79952270 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002439.3 +1 reviewed p.N93T 0.065 186 0% 371 27% 1 0% benign(0.013) deleterious(0.02) neutral(0.384) NULL MSH3 4437 genome.wustl.edu 37 5 79961018 79961018 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002439.3 +1 reviewed p.E139* 1.000 77 0% 111 27.9% 0 - - - - NULL MSH3 4437 genome.wustl.edu 37 5 80063902 80063902 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002439.3 +1 reviewed p.E683* 0.998 161 0% 60 21.7% 6 50% - - - HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III MSH3 4437 genome.wustl.edu 37 5 80150030 80150030 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002439.3 +1 reviewed p.K965N 0.518 114 0% 64 29.7% 12 16.6% benign(0.001) tolerated(0.54) neutral(0.007) HMMPfam_MutS_V,HMMSmart_SM00534,superfamily_P-loop containing nucleoside triphosphate hydrolases RASGRF2 5924 genome.wustl.edu 37 5 80388664 80388664 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006909.1 +1 validated p.K479Q 1.000 115 0% 106 31.1% 1 0% possibly_damaging(0.61) tolerated(0.07) deleterious(0.530) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like RASGRF2 5924 genome.wustl.edu 37 5 80388707 80388707 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006909.1 +1 validated p.R493I 1.000 112 0% 107 29.9% 0 - possibly_damaging(0.941) deleterious(0) deleterious(0.831) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like RASGRF2 5924 genome.wustl.edu 37 5 80408453 80408453 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006909.1 +1 validated p.D621 0.334 101 0% 44 31.8% 0 - - - - superfamily_Ras GEF LOC100129411 100129411 genome.wustl.edu 37 5 80422930 80422930 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001715988.1 -1 model p.P110L 0.976 111 0% 45 13.3% 1 0% - - - NULL RASGRF2 5924 genome.wustl.edu 37 5 80497155 80497155 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006909.1 +1 validated p.E934K 1.000 81 0% 83 36.1% 1 100% possibly_damaging(0.858) deleterious(0.02) deleterious(0.714) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF CKMT2 1160 genome.wustl.edu 37 5 80555016 80555016 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099735.1 +1 reviewed p.S319 0.953 126 0% 130 25.4% 13 46.1% - - - HMMPfam_ATP-gua_Ptrans,PatternScan_GUANIDO_KINASE,superfamily_SSF55931 ACOT12 134526 genome.wustl.edu 37 5 80639994 80639994 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130767.2 -1 validated p.R322Q 1.000 78 0% 93 26.9% 0 - possibly_damaging(0.687) tolerated(0.36) neutral(0.266) NULL ACOT12 134526 genome.wustl.edu 37 5 80655819 80655819 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130767.2 -1 validated p.D133 0.549 280 0% 119 33.6% 1 100% - - - superfamily_Thioesterase/thiol ester dehydrase-isomerase VCAN 1462 genome.wustl.edu 37 5 82815255 82815255 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004385.4 +1 reviewed p.R377I 0.948 85 0% 75 28% 1 0% possibly_damaging(0.736) deleterious(0.02) deleterious(0.652) NULL VCAN 1462 genome.wustl.edu 37 5 82816418 82816418 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004385.4 +1 reviewed p.D765Y 0.008 114 0% 66 30.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL VCAN 1462 genome.wustl.edu 37 5 82833871 82833871 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004385.4 +1 reviewed p.E1683D 0.000 65 0% 35 22.9% 2 0% benign(0) - - NULL VCAN 1462 genome.wustl.edu 37 5 82835131 82835131 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004385.4 +1 reviewed p.V2103 0.003 88 0% 47 8.5% 7 0% - - - NULL VCAN 1462 genome.wustl.edu 37 5 82835990 82835990 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004385.4 +1 reviewed p.E2390* 0.889 91 0% 30 40% 5 0% - - - NULL VCAN 1462 genome.wustl.edu 37 5 82836059 82836059 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004385.4 +1 reviewed p.E2413K 0.000 105 0% 33 24.2% 3 0% benign(0.179) - - NULL VCAN 1462 genome.wustl.edu 37 5 82836576 82836576 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004385.4 +1 reviewed p.P2585H 0.230 48 0% 30 26.7% 12 8.3% probably_damaging(1) - - NULL VCAN 1462 genome.wustl.edu 37 5 82837291 82837291 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004385.4 +1 reviewed p.Q2823H 0.000 110 0% 42 16.7% 13 0% benign(0) - - NULL EDIL3 10085 genome.wustl.edu 37 5 83356293 83356293 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005711.3 -1 reviewed p.E321 1.000 123 0% 42 28.6% 2 0% - - - HMMSmart_SM00231,superfamily_Galactose-binding domain-like EDIL3 10085 genome.wustl.edu 37 5 83360563 83360563 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005711.3 -1 reviewed p.R303I 1.000 158 0% 87 37.9% 1 0% possibly_damaging(0.671) tolerated(0.25) neutral(0.275) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_2,superfamily_Galactose-binding domain-like RASA1 5921 genome.wustl.edu 37 5 86649005 86649005 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002890.1 +1 reviewed p.E429* 1.000 120 0% 40 20% 6 0% - - - HMMSmart_SM00252,superfamily_SH2 domain GPR98 84059 genome.wustl.edu 37 5 89977154 89977154 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032119.3 +1 reviewed p.Q1849H 0.987 105 0% 64 34.4% 0 - benign(0.003) tolerated(0.19) neutral(0.050) NULL GPR98 84059 genome.wustl.edu 37 5 90072290 90072290 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032119.3 +1 reviewed p.R4142W 0.052 157 0% 59 28.8% 0 - probably_damaging(0.992) deleterious(0.05) deleterious(0.793) NULL ARRDC3 57561 genome.wustl.edu 37 5 90678644 90678644 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020801.2 -1 validated p.I89S 1.000 119 0% 217 24.9% 27 48.1% possibly_damaging(0.61) deleterious(0.03) deleterious(0.576) HMMPfam_Arrestin_N,superfamily_Ig_E-set FAM172A 83989 genome.wustl.edu 37 5 93217271 93217271 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032042.5 -1 validated p.D231Y 1.000 363 0% 143 27.3% 4 50% probably_damaging(0.966) deleterious(0.02) deleterious(0.791) HMMPfam_Arb2 KIAA0825 285600 genome.wustl.edu 37 5 93809122 93809122 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145678.1 -1 validated p.L444I 1.000 199 0% 163 31.9% 0 - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL KIAA0825 285600 genome.wustl.edu 37 5 93872811 93872811 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145678.1 -1 validated p.Y7 1.000 74 0% 83 36.1% 0 - - - - NULL ANKRD32 84250 genome.wustl.edu 37 5 94001657 94001657 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032290.3 +1 validated p.R487I 0.788 265 0% 146 13% 4 25% benign(0.042) deleterious(0.01) neutral(0.408) NULL ANKRD32 84250 genome.wustl.edu 37 5 94024308 94024308 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032290.3 +1 validated p.S740F 1.000 172 0% 158 42.4% 4 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ANKRD32 84250 genome.wustl.edu 37 5 94025259 94025259 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032290.3 +1 validated p.E789D 1.000 88 0% 68 33.8% 2 0% benign(0.296) deleterious(0) deleterious(0.536) superfamily_ANK TTC37 9652 genome.wustl.edu 37 5 94865914 94865914 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014639.2 -1 provisional p.G257 0.610 183 0% 145 37.9% 13 53.8% - - - superfamily_SSF48452 TTC37 9652 genome.wustl.edu 37 5 94879014 94879014 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014639.2 -1 provisional p.E36D 1.000 194 0% 139 30.2% 10 30% benign(0.005) tolerated(0.54) neutral(0.007) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 ARSK 153642 genome.wustl.edu 37 5 94918806 94918806 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198150.2 +1 validated p.Y201* 0.983 111 0% 64 18.8% 2 50% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ELL2 22936 genome.wustl.edu 37 5 95226947 95226947 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012081.5 -1 validated p.R541C 1.000 212 0% 134 11.9% 13 0% unknown(0) deleterious(0) - HMMPfam_Occludin_ELL PCSK1 5122 genome.wustl.edu 37 5 95728874 95728874 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000439.4 -1 reviewed p.E698G 0.188 210 0% 115 34.8% 0 - benign(0.059) deleterious(0.03) neutral(0.368) NULL ERAP1 51752 genome.wustl.edu 37 5 96112228 96112228 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016442.3 -1 validated p.E900* 1.000 241 0% 67 32.8% 31 41.9% - - - NULL ERAP1 51752 genome.wustl.edu 37 5 96132899 96132899 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016442.3 -1 validated p.K259N 1.000 95 0% 86 34.9% 22 31.8% possibly_damaging(0.757) tolerated(0.12) deleterious(0.540) HMMPfam_Peptidase_M1 ERAP2 64167 genome.wustl.edu 37 5 96251473 96251473 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000512869 +1 known p.G68S 1.000 245 0% 199 30.2% 21 0% - - - NULL ERAP2 64167 genome.wustl.edu 37 5 96253185 96253185 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130140.1 +1 validated p.S920Y 0.998 143 0.7% 139 35.3% 23 73.9% possibly_damaging(0.455) deleterious(0.01) deleterious(0.554) NULL LNPEP 4012 genome.wustl.edu 37 5 96315631 96315631 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005575.2 +1 reviewed p.S270Y 0.150 56 0% 26 34.6% 5 40% possibly_damaging(0.801) deleterious(0.02) deleterious(0.684) HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain LNPEP 4012 genome.wustl.edu 37 5 96360311 96360311 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005575.2 +1 reviewed p.S883Y 0.001 55 0% 35 40% 6 66.6% benign(0.005) tolerated(0.48) neutral(0.011) NULL CHD1 1105 genome.wustl.edu 37 5 98209302 98209302 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001270.2 -1 reviewed p.R1189Q 1.000 203 0% 204 32.8% 20 35% benign(0.137) tolerated(0.18) neutral(0.068) NULL CHD1 1105 genome.wustl.edu 37 5 98238607 98238607 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001270.2 -1 reviewed p.K145T 1.000 135 0% 66 24.2% 2 50% possibly_damaging(0.774) tolerated(0.28) neutral(0.320) NULL ST8SIA4 7903 genome.wustl.edu 37 5 100147762 100147762 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005668.4 -1 reviewed p.R290K 1.000 108 0% 58 22.4% 2 0% probably_damaging(0.983) tolerated(0.06) deleterious(0.752) HMMPfam_Glyco_transf_29 ST8SIA4 7903 genome.wustl.edu 37 5 100191996 100191996 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005668.4 -1 reviewed p.R203Q 1.000 145 0% 130 23.8% 0 - benign(0.022) tolerated(0.59) neutral(0.005) HMMPfam_Glyco_transf_29 ST8SIA4 7903 genome.wustl.edu 37 5 100231433 100231433 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005668.4 -1 reviewed p.R57Q 1.000 147 0% 149 29.5% 5 0% benign(0.022) tolerated(0.2) neutral(0.050) NULL SLCO4C1 353189 genome.wustl.edu 37 5 101592977 101592977 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_180991.4 -1 validated p.I437M 0.990 111 0% 62 24.2% 0 - possibly_damaging(0.822) deleterious(0.04) deleterious(0.660) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO6A1 133482 genome.wustl.edu 37 5 101724427 101724427 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173488.3 -1 validated p.N661T 0.040 154 0% 66 24.2% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_OATP,superfamily_MFS general substrate transporter PAM 5066 genome.wustl.edu 37 5 102355517 102355517 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000919.3 +1 reviewed p.K819E 1.000 236 0% 95 40% 539 46.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GIN1 54826 genome.wustl.edu 37 5 102423724 102423724 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017676.2 -1 validated p.R483C 0.106 106 0% 48 20.8% 8 12.5% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) NULL GIN1 54826 genome.wustl.edu 37 5 102432489 102432489 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017676.2 -1 validated p.I350 0.040 195 0% 76 25% 3 0% - - - NULL PPIP5K2 23262 genome.wustl.edu 37 5 102519017 102519017 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015216.2 +1 provisional p.R1002Q 1.000 92 0% 63 31.7% 17 0% benign(0.057) tolerated(0.53) neutral(0.011) NULL FER 2241 genome.wustl.edu 37 5 108207167 108207167 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005246.2 +1 reviewed p.P256H 1.000 124 0% 34 11.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PJA2 9867 genome.wustl.edu 37 5 108714469 108714469 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014819.4 -1 validated p.K240T 0.999 175 0% 133 36.8% 29 58.6% benign(0.079) deleterious(0) neutral(0.450) NULL MAN2A1 4124 genome.wustl.edu 37 5 109120458 109120458 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002372.2 +1 reviewed p.L531I 1.000 109 0% 37 40.5% 5 20% possibly_damaging(0.851) tolerated(0.07) deleterious(0.646) HMMPfam_Alpha-mann_mid,superfamily_SSF88688 MAN2A1 4124 genome.wustl.edu 37 5 109120509 109120509 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002372.2 +1 reviewed p.L548I 1.000 146 0% 52 26.9% 9 88.8% benign(0.045) tolerated(0.41) neutral(0.017) HMMPfam_Alpha-mann_mid,superfamily_SSF88688 MAN2A1 4124 genome.wustl.edu 37 5 109190985 109190985 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002372.2 +1 reviewed p.S1041A 0.854 185 0% 66 28.8% 12 33.3% benign(0.023) tolerated(0.15) neutral(0.242) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C SLC25A46 91137 genome.wustl.edu 37 5 110096916 110096916 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138773.1 +1 provisional p.R231* 1.000 148 0% 59 23.7% 15 66.6% - - - superfamily_Mitochondrial carrier LOC100286926 100286926 genome.wustl.edu 37 5 110427985 110427985 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342562.1 -1 model p.K84Q 0.004 19 0% 36 38.9% 0 - - - - NULL EPB41L4A-AS1 114915 genome.wustl.edu 37 5 111496599 111496599 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_015370.2 +1 validated NULL 0.000 127 0% 181 27.1% 23 34.7% - - - - EPB41L4A-AS1 114915 genome.wustl.edu 37 5 111496799 111496799 + RNA SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_015370.2 +1 validated NULL 0.003 54 0% 72 19.4% 61 40.9% - - - - APC 324 genome.wustl.edu 37 5 112151261 112151261 + Nonsense_Mutation SNP C C T rs137854568 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000038.4 +1 reviewed p.R302* 1.000 81 0% 31 25.8% 0 - - - - superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112173476 112173476 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000038.4 +1 reviewed p.L729F 1.000 83 0% 73 17.8% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112176192 112176192 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000038.4 +1 reviewed p.P1634L 1.000 64 0% 40 45% 6 66.6% possibly_damaging(0.444) deleterious(0.04) deleterious(0.494) NULL MCC 4163 genome.wustl.edu 37 5 112379265 112379265 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001085377.1 -1 reviewed p.E906D 0.964 40 0% 52 25% 4 50% benign(0) tolerated(0.48) neutral(0.011) NULL YTHDC2 64848 genome.wustl.edu 37 5 112868689 112868689 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022828.3 +1 validated p.E263D 1.000 121 0% 76 22.4% 2 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_DEXDc,superfamily_SSF52540 YTHDC2 64848 genome.wustl.edu 37 5 112889717 112889717 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022828.3 +1 validated p.E711* 1.000 223 0% 164 29.9% 4 25% - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 YTHDC2 64848 genome.wustl.edu 37 5 112927877 112927877 + Splice_Site SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022828.3 +1 validated e28+2 1.000 153 0% 55 34.5% 4 25% - - - - FEM1C 56929 genome.wustl.edu 37 5 114860958 114860958 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020177.2 -1 validated p.E301* 1.000 135 0% 75 29.3% 24 58.3% - - - superfamily_ANK TICAM2 353376 genome.wustl.edu 37 5 114916300 114916300 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021649.5 -1 validated p.Q218 0.179 111 0% 108 29.6% 2 0% - - - NULL TICAM2 353376 genome.wustl.edu 37 5 114916621 114916621 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021649.5 -1 validated p.I111 1.000 171 0% 138 34.8% 5 0% - - - superfamily_TIR AQPEP 206338 genome.wustl.edu 37 5 115320309 115320309 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173800.4 +1 validated p.V294A 0.611 109 0% 61 27.9% 1 100% benign(0.018) tolerated(0.29) neutral(0.030) HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain AQPEP 206338 genome.wustl.edu 37 5 115335464 115335464 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173800.4 +1 validated p.E460 0.022 74 0% 44 38.6% 0 - - - - "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" COMMD10 51397 genome.wustl.edu 37 5 115423219 115423219 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016144.2 +1 provisional p.N23H 0.997 210 0% 281 34.5% 20 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HCaRG DMXL1 1657 genome.wustl.edu 37 5 118437692 118437692 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005509.4 +1 validated p.K92N 1.000 113 0% 78 32.1% 2 50% benign(0) tolerated(0.3) neutral(0.029) superfamily_WD40 repeat-like DMXL1 1657 genome.wustl.edu 37 5 118484613 118484613 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005509.4 +1 validated p.E1031* 1.000 101 0% 50 30% 12 41.6% - - - NULL DMXL1 1657 genome.wustl.edu 37 5 118533515 118533515 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005509.4 +1 validated p.L2537I 1.000 182 0% 97 30.9% 11 18.1% probably_damaging(1) tolerated(0.11) deleterious(0.772) superfamily_WD40 repeat-like PRR16 51334 genome.wustl.edu 37 5 120021866 120021866 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016644.1 +1 provisional p.P103H 0.999 135 0% 72 30.6% 19 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FTMT 94033 genome.wustl.edu 37 5 121188162 121188162 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177478.1 +1 validated p.K168N 0.991 45 0% 53 41.5% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Ferritin,superfamily_Ferritin/RR_like SRFBP1 153443 genome.wustl.edu 37 5 121309919 121309919 + Missense_Mutation SNP G G T rs182811437 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152546.2 +1 validated p.R22I 0.988 110 0% 56 33.9% 11 36.3% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL SRFBP1 153443 genome.wustl.edu 37 5 121356127 121356127 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152546.2 +1 validated p.T233A 0.000 74 0% 48 27.1% 6 50% benign(0.009) deleterious(0.04) neutral(0.349) NULL SNCAIP 9627 genome.wustl.edu 37 5 121759422 121759422 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005460.2 +1 reviewed p.Q330 0.977 97 0% 27 33.3% 4 25% - - - superfamily_ANK SNCAIP 9627 genome.wustl.edu 37 5 121776384 121776384 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005460.2 +1 reviewed p.V453I 1.000 172 0% 105 29.5% 4 0% benign(0.068) tolerated(0.32) neutral(0.029) HMMPfam_Ank,superfamily_ANK SNCAIP 9627 genome.wustl.edu 37 5 121786733 121786733 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005460.2 +1 reviewed p.R731C 1.000 99 0% 39 48.7% 12 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP120 153241 genome.wustl.edu 37 5 122727031 122727031 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153223.3 -1 reviewed p.I271V 1.000 91 0% 39 17.9% 6 66.6% benign(0.016) tolerated(0.24) neutral(0.038) NULL ZNF608 57507 genome.wustl.edu 37 5 123984584 123984584 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020747.2 -1 validated p.N498S 1.000 182 0% 214 31.8% 7 57.1% benign(0.053) tolerated(0.25) neutral(0.041) NULL GRAMD3 65983 genome.wustl.edu 37 5 125816389 125816389 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023927.2 +1 validated p.S242Y 0.991 166 0% 68 30.9% 17 29.4% probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL MEGF10 84466 genome.wustl.edu 37 5 126732327 126732327 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032446.2 +1 validated p.G172 0.982 21 0% 35 31.4% 0 - - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin MEGF10 84466 genome.wustl.edu 37 5 126781265 126781265 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032446.2 +1 validated p.L870F 0.970 238 0% 95 18.9% 0 - possibly_damaging(0.439) deleterious(0.03) deleterious(0.507) NULL MEGF10 84466 genome.wustl.edu 37 5 126791225 126791225 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032446.2 +1 validated p.S1053L 1.000 98 0% 46 10.9% 0 - possibly_damaging(0.786) deleterious(0) deleterious(0.739) NULL SLC12A2 6558 genome.wustl.edu 37 5 127474291 127474291 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001046.2 +1 validated p.E471* 1.000 356 0% 183 30.1% 0 - - - - HMMPfam_AA_permease SLC12A2 6558 genome.wustl.edu 37 5 127474324 127474324 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001046.2 +1 validated p.R482* 1.000 386 0% 202 31.2% 0 - - - - HMMPfam_AA_permease SLC12A2 6558 genome.wustl.edu 37 5 127486939 127486939 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001046.2 +1 validated p.R705H 1.000 252 0% 105 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease SLC12A2 6558 genome.wustl.edu 37 5 127510302 127510302 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001046.2 +1 validated p.K958I 1.000 108 0% 26 23.1% 3 66.6% benign(0.02) tolerated(0.09) neutral(0.297) NULL SLC12A2 6558 genome.wustl.edu 37 5 127520113 127520113 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001046.2 +1 validated p.E1119* 1.000 125 0.8% 65 26.2% 1 100% - - - NULL FBN2 2201 genome.wustl.edu 37 5 127597539 127597539 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001999.3 -1 reviewed p.V2751 0.000 171 0% 75 28% 94 39.3% - - - NULL FBN2 2201 genome.wustl.edu 37 5 127668615 127668615 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001999.3 -1 reviewed p.I1404S 1.000 205 0% 121 32.2% 18 61.1% possibly_damaging(0.437) deleterious(0.02) deleterious(0.525) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN2 2201 genome.wustl.edu 37 5 127854988 127854988 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001999.3 -1 reviewed p.F202L 1.000 84 0% 46 32.6% 19 52.6% benign(0.231) tolerated(0.08) neutral(0.323) HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2 ADAMTS19 171019 genome.wustl.edu 37 5 128864279 128864279 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133638.3 +1 reviewed p.E407* 1.000 110 0% 60 25% 6 0% - - - "superfamily_Metalloproteases (""zincins"") catalytic domain" CHSY3 337876 genome.wustl.edu 37 5 129520187 129520187 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175856.4 +1 validated p.S451Y 1.000 51 0% 28 53.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_CHGN CHSY3 337876 genome.wustl.edu 37 5 129520795 129520795 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175856.4 +1 validated p.L654V 1.000 71 0% 63 39.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CHGN,superfamily_SSF53448 RAPGEF6 51735 genome.wustl.edu 37 5 130766971 130766971 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016340.5 -1 validated p.S1349Y 1.000 127 0% 66 22.7% 4 25% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL RAPGEF6 51735 genome.wustl.edu 37 5 130778223 130778223 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016340.5 -1 validated p.K1143N 1.000 205 0% 93 24.7% 2 0% probably_damaging(1) tolerated(0.05) deleterious(0.845) superfamily_Ras GEF RAPGEF6 51735 genome.wustl.edu 37 5 130883819 130883819 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016340.5 -1 validated p.R139Q 0.999 296 0% 143 36.4% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL FNIP1 96459 genome.wustl.edu 37 5 131008125 131008125 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000513722 -1 known p.E465* 1.000 113 0% 48 22.9% 8 62.5% benign(0.071) deleterious(0.04) neutral(0.354) NULL ACSL6 23305 genome.wustl.edu 37 5 131329904 131329904 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009185.1 -1 validated p.E30D 1.000 34 0% 32 34.4% 0 - benign(0.17) tolerated(0.11) neutral(0.287) NULL P4HA2 8974 genome.wustl.edu 37 5 131534583 131534583 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142599.1 -1 reviewed p.D432N 1.000 111 0% 83 31.3% 61 8.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 P4HA2 8974 genome.wustl.edu 37 5 131553488 131553488 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142599.1 -1 reviewed p.E46* 1.000 116 0% 124 38.7% 23 4.3% - - - HMMPfam_P4Ha_N SLC22A5 6584 genome.wustl.edu 37 5 131728297 131728297 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003060.3 +1 reviewed p.F480 0.017 90 0% 72 22.2% 67 50.7% - - - superfamily_MFS general substrate transporter RAD50 10111 genome.wustl.edu 37 5 131939092 131939092 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005732.3 +1 reviewed p.E770* 1.000 116 0% 83 28.9% 13 7.6% - - - HMMPfam_SMC_N,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF3A 11127 genome.wustl.edu 37 5 132037863 132037863 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007054.5 -1 validated p.G573 0.981 146 0% 83 21.7% 12 33.3% - - - NULL KIF3A 11127 genome.wustl.edu 37 5 132039171 132039171 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007054.5 -1 validated p.D457Y 1.000 315 0% 185 28.1% 6 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CCNI2 645121 genome.wustl.edu 37 5 132084119 132084119 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039780.2 +1 provisional p.T170 0.001 73 0% 159 29.6% 1 0% - - - HMMSmart_CYCLIN,HMMPfam_Cyclin_N,superfamily_Cyclin_like SEPT8 23176 genome.wustl.edu 37 5 132100080 132100080 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098811.1 -1 validated p.M61I 1.000 139 0% 176 29% 52 44.2% benign(0.006) tolerated(1) - HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases GDF9 2661 genome.wustl.edu 37 5 132199972 132199972 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005260.3 -1 reviewed p.A85D 0.980 160 0.6% 182 34.6% 0 - benign(0.052) tolerated(0.23) neutral(0.045) NULL AFF4 27125 genome.wustl.edu 37 5 132238134 132238134 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014423.3 -1 validated p.S378F 1.000 125 0% 93 24.7% 6 33.3% benign(0.15) deleterious(0.01) neutral(0.419) HMMPfam_AF-4 HSPA4 3308 genome.wustl.edu 37 5 132409744 132409744 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002154.3 +1 validated p.N197Y 1.000 109 0% 77 39% 84 57.1% benign(0.098) tolerated(0.17) neutral(0.067) HMMPfam_HSP70,superfamily_SSF53067 HSPA4 3308 genome.wustl.edu 37 5 132412504 132412504 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002154.3 +1 validated p.K274N 1.000 187 0% 126 24.6% 96 40.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,superfamily_SSF53067 FSTL4 23105 genome.wustl.edu 37 5 132560972 132560972 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000360575 -1 known p.M1T 0.988 115 0% 71 32.4% 8 25% - - - NULL PPP2CA 5515 genome.wustl.edu 37 5 133537696 133537696 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002715.2 -1 reviewed p.R110H 1.000 178 0.6% 103 27.2% 188 40.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases SEC24A 10802 genome.wustl.edu 37 5 134015381 134015381 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021982.1 +1 validated p.R448 1.000 188 0% 119 33.6% 9 33.3% - - - HMMPfam_zf-Sec23_Sec24,superfamily_beta-sandwich domain of Sec23/24 DDX46 9879 genome.wustl.edu 37 5 134113361 134113361 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014829.2 +1 reviewed p.E237D 0.998 152 0% 140 24.3% 16 18.7% benign(0.012) tolerated(0.42) neutral(0.015) NULL CATSPER3 347732 genome.wustl.edu 37 5 134346174 134346174 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178019.2 +1 validated p.D350N 0.100 144 0% 162 29% 2 50% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL H2AFY 9555 genome.wustl.edu 37 5 134681683 134681683 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138610.2 -1 reviewed p.K251N 1.000 178 0% 126 28.6% 412 39.8% possibly_damaging(0.634) deleterious(0.02) deleterious(0.605) HMMPfam_Macro,HMMSmart_SM00506,superfamily_Macro domain-like FBXL21 26223 genome.wustl.edu 37 5 135277261 135277261 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012159.4 +1 validated p.V402 0.995 111 0% 84 35.7% 0 - - - - NULL LECT2 3950 genome.wustl.edu 37 5 135283138 135283138 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002302.2 -1 reviewed p.P113H 0.601 209 0% 144 23.6% 0 - benign(0.358) tolerated(0.05) neutral(0.459) HMMPfam_Peptidase_M23 TRPC7 57113 genome.wustl.edu 37 5 135549254 135549254 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000513104 -1 known p.R820C 1.000 137 0% 99 38.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPC7 57113 genome.wustl.edu 37 5 135561823 135561823 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000513104 -1 known p.L721F 1.000 147 0% 89 32.6% 0 - benign(0.004) tolerated(0.42) neutral(0.014) NULL TRPC7 57113 genome.wustl.edu 37 5 135567199 135567199 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000513104 -1 known p.F628S 1.000 152 0% 65 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans TRPC7 57113 genome.wustl.edu 37 5 135692303 135692303 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000513104 -1 known p.E258A 1.000 38 0% 65 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRP_2 TRPC7 57113 genome.wustl.edu 37 5 135692649 135692649 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000513104 -1 known p.E143* 1.000 60 0% 89 24.7% 0 - - - - superfamily_ANK MYOT 9499 genome.wustl.edu 37 5 137206353 137206353 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006790.2 +1 reviewed p.E5K 1.000 54 0% 38 36.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PKD2L2 27039 genome.wustl.edu 37 5 137261577 137261577 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014386.2 +1 validated p.D544N 0.890 274 0% 155 31% 0 - possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) NULL FAM13B 51306 genome.wustl.edu 37 5 137323294 137323294 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016603.2 -1 validated p.R301I 1.000 156 0% 94 22.3% 10 20% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL KDM3B 51780 genome.wustl.edu 37 5 137761113 137761113 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016604.3 +1 validated p.S1418L 1.000 122 0% 59 45.8% 41 36.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Clavaminate synthase-like HSPA9 3313 genome.wustl.edu 37 5 137903356 137903356 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004134.6 -1 reviewed p.F197L 1.000 157 0% 160 34.4% 141 35.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HSP70,superfamily_SSF53067 CTNNA1 1495 genome.wustl.edu 37 5 138240092 138240092 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001903.2 +1 validated p.R451* 1.000 178 0% 149 31.5% 171 3.5% - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin MATR3 9782 genome.wustl.edu 37 5 138665038 138665038 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018834.4 +1 reviewed p.F833C 1.000 157 0% 146 30.8% 166 51.8% benign(0.156) deleterious(0.01) neutral(0.420) HMMSmart_ZnF_U1 ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139815746 139815746 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020690.4 +1 reviewed p.S122T 1.000 104 0% 119 28.6% 21 14.2% benign(0.036) deleterious(0.01) neutral(0.408) NULL ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139908938 139908938 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020690.4 +1 reviewed p.R2136Q 1.000 158 0% 118 33.1% 35 37.1% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139918515 139918515 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020690.4 +1 reviewed p.I2472M 1.000 129 0% 94 36.2% 74 29.7% benign(0.307) tolerated(0.28) neutral(0.127) NULL ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139928508 139928508 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020690.4 +1 reviewed p.R2566Q 1.000 66 0% 81 40.7% 60 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMCO6 55374 genome.wustl.edu 37 5 140024605 140024605 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018502.3 +1 provisional p.Q468H 1.000 93 0% 156 23.1% 8 0% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) superfamily_ARM repeat NDUFA2 4695 genome.wustl.edu 37 5 140025184 140025184 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002488.4 -1 reviewed p.S96R 0.764 140 1.4% 232 31.5% 281 41.6% possibly_damaging(0.574) tolerated(0.14) neutral(0.447) NULL HARS2 23438 genome.wustl.edu 37 5 140073220 140073220 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000510104 +1 known p.E85* 0.732 150 0% 187 28.3% 14 42.8% - - - NULL ENSG00000249821 0 genome.wustl.edu 37 5 140165806 140165806 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000508944 -1 known NULL 0.000 31 0% 39 43.6% 1 0% - - - - PCDHA1 56147 genome.wustl.edu 37 5 140166704 140166704 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018900.2 +1 reviewed p.V277F 0.163 128 0% 259 32.4% 0 - benign(0.003) deleterious(0.03) neutral(0.364) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA1 56147 genome.wustl.edu 37 5 140167390 140167390 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018900.2 +1 reviewed p.S505 1.000 47 0% 66 12.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA1 56147 genome.wustl.edu 37 5 140167991 140167991 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018900.2 +1 reviewed p.A706T 0.892 40 0% 57 33.3% 0 - benign(0.081) tolerated(0.16) neutral(0.066) NULL PCDHA2 56146 genome.wustl.edu 37 5 140175500 140175500 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018905.2 +1 reviewed p.E317D 0.509 61 0% 169 29% 1 100% benign(0.019) tolerated(0.12) neutral(0.262) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA2 56146 genome.wustl.edu 37 5 140176987 140176987 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031495.1 +1 reviewed p.K813T 0.000 34 0% 54 24.1% 0 - benign(0.032) - - NULL PCDHA7 56141 genome.wustl.edu 37 5 140214350 140214350 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018910.2 +1 reviewed p.D128N 1.000 108 0% 180 26.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA7 56141 genome.wustl.edu 37 5 140215100 140215100 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018910.2 +1 reviewed p.D378Y 1.000 82 0% 175 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140222421 140222421 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018911.2 +1 reviewed p.S505 0.996 27 0% 65 21.5% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140229535 140229535 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031857.1 +1 reviewed p.Q485H 0.001 45 0% 102 34.3% 0 - benign(0.028) tolerated(0.1) neutral(0.288) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140248954 140248954 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018902.3 +1 reviewed p.R89Q 1.000 74 1.4% 128 33.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140251082 140251082 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031861.1 +1 reviewed p.V798 0.998 49 0% 64 37.5% 0 - - - - NULL PCDHA12 56137 genome.wustl.edu 37 5 140256572 140256572 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018903.2 +1 reviewed p.S505 1.000 29 0% 56 41.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140256672 140256672 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018903.2 +1 reviewed p.D539N 1.000 54 0% 74 36.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140257088 140257088 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018903.2 +1 reviewed p.K677N 0.003 44 0% 71 39.4% 3 100% benign(0.002) tolerated(0.06) neutral(0.323) NULL PCDHAC1 56135 genome.wustl.edu 37 5 140308329 140308329 + Missense_Mutation SNP C C T rs143875858 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018898.3 +1 reviewed p.L618F 1.000 99 0% 157 29.9% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140308723 140308723 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018898.3 +1 reviewed p.R749I 0.973 172 0% 234 33.3% 1 0% possibly_damaging(0.537) tolerated(0.1) neutral(0.468) NULL PCDHAC2 56134 genome.wustl.edu 37 5 140346698 140346698 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018899.5 +1 reviewed p.R116H 1.000 22 0% 26 38.5% 0 - possibly_damaging(0.909) tolerated(0.08) deleterious(0.662) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140347140 140347140 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018899.5 +1 reviewed p.R263 0.274 33 0% 47 38.3% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140348138 140348138 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018899.5 +1 reviewed p.R596Q 1.000 121 0% 215 34.9% 1 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_Cadherin-like PCDHB1 29930 genome.wustl.edu 37 5 140431319 140431319 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013340.2 +1 reviewed p.E88D 0.998 68 0% 50 26% 0 - benign(0.031) tolerated(0.12) neutral(0.262) HMMSmart_CA,HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB2 56133 genome.wustl.edu 37 5 140476753 140476753 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018936.2 +1 reviewed p.K793N 0.000 185 0% 343 25.9% 10 0% benign(0) tolerated(1) - NULL PCDHB5 26167 genome.wustl.edu 37 5 140515089 140515089 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015669.2 +1 reviewed p.E25K 0.832 96 0% 208 33.7% 13 0% benign(0) tolerated(0.89) - NULL PCDHB5 26167 genome.wustl.edu 37 5 140515421 140515421 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015669.2 +1 reviewed p.E135D 0.000 94 0% 206 31.1% 9 0% benign(0) tolerated(0.9) - superfamily_Cadherin PCDHB6 56130 genome.wustl.edu 37 5 140530881 140530881 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018939.2 +1 reviewed p.S348L 0.001 104 0% 184 27.7% 0 - probably_damaging(0.973) tolerated(0.08) deleterious(0.715) superfamily_Cadherin PCDHB6 56130 genome.wustl.edu 37 5 140531486 140531486 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018939.2 +1 reviewed p.L550 0.000 40 0% 78 25.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHB7 56129 genome.wustl.edu 37 5 140554472 140554472 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018940.2 +1 reviewed p.V686I 0.001 69 0% 114 11.4% 12 50% benign(0.012) tolerated(0.1) neutral(0.287) NULL PCDHB8 56128 genome.wustl.edu 37 5 140557710 140557710 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019120.2 +1 reviewed p.R32I 0.000 554 0% 978 12% 2 0% benign(0) tolerated(0.52) neutral(0.009) HMMPfam_Cadherin_2 PCDHB16 57717 genome.wustl.edu 37 5 140563208 140563208 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020957.1 +1 reviewed p.E358D 1.000 59 0% 124 35.5% 3 33.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Cadherin,superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140564388 140564388 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020957.1 +1 reviewed p.E752K 0.994 115 0% 205 25.4% 5 40% benign(0.037) tolerated(0.28) neutral(0.034) NULL PCDHB10 56126 genome.wustl.edu 37 5 140573018 140573018 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018930.3 +1 reviewed p.S298Y 0.908 89 0% 211 39.3% 1 100% possibly_damaging(0.828) deleterious(0) deleterious(0.758) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB13 56123 genome.wustl.edu 37 5 140594202 140594202 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018933.2 +1 reviewed p.E169D 0.000 59 0% 125 22.4% 7 28.5% benign(0) deleterious(0.02) neutral(0.383) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB13 56123 genome.wustl.edu 37 5 140596051 140596051 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018933.2 +1 reviewed p.N786H 0.000 146 0% 277 33.6% 11 81.8% benign(0.003) deleterious(0.01) neutral(0.406) NULL PCDHB14 56122 genome.wustl.edu 37 5 140604601 140604601 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018934.2 +1 reviewed p.A508 0.000 50 0% 93 24.7% 8 37.5% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB18 54660 genome.wustl.edu 37 5 140615320 140615320 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000274705 +1 known p.K345N 0.159 30 0% 50 38% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB15 56121 genome.wustl.edu 37 5 140626087 140626087 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018935.2 +1 reviewed p.S314L 0.000 107 0% 197 31.5% 1 0% benign(0.258) tolerated(0.39) neutral(0.043) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB15 56121 genome.wustl.edu 37 5 140626811 140626811 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018935.2 +1 reviewed p.N555 0.998 48 0% 76 30.3% 5 0% - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHB15 56121 genome.wustl.edu 37 5 140627280 140627280 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018935.2 +1 reviewed p.R712W 0.005 56 0% 80 35% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC25A2 83884 genome.wustl.edu 37 5 140682849 140682849 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031947.2 -1 reviewed p.R195Q 0.993 117 0% 170 34.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Mitoch_carrier,HMMPfam_Mito_carr PCDHGA2 56113 genome.wustl.edu 37 5 140719540 140719540 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018915.2 +1 reviewed p.I334 0.000 67 0% 113 39.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140724790 140724790 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018916.3 +1 reviewed p.S397L 0.836 97 0% 202 31.7% 0 - benign(0.019) deleterious(0.03) neutral(0.365) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140730217 140730217 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018922.2 +1 reviewed p.F130 0.154 91 1.1% 127 33.9% 1 0% - - - superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140730393 140730393 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018922.2 +1 reviewed p.P189L 0.889 90 0% 150 31.3% 1 100% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140730862 140730862 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018922.2 +1 reviewed p.F345L 0.000 76 0% 136 30.1% 0 - benign(0) tolerated(1) - superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140732209 140732209 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018922.2 +1 reviewed p.I794 0.001 120 0% 278 29.5% 0 - - - - NULL PCDHGB2 56103 genome.wustl.edu 37 5 140740776 140740776 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018923.2 +1 reviewed p.E358D 0.996 63 0% 133 36.8% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGB2 56103 genome.wustl.edu 37 5 140741786 140741786 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018923.2 +1 reviewed p.A695D 1.000 84 0% 158 24.1% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCDHGA5 56110 genome.wustl.edu 37 5 140744632 140744632 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018918.2 +1 reviewed p.S245 0.000 48 0% 48 43.8% 0 - - - - superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140750720 140750720 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018924.2 +1 reviewed p.E253D 1.000 35 0% 90 33.3% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140752364 140752364 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018924.2 +1 reviewed p.G801 0.005 113 0% 191 33% 0 - - - - NULL PCDHGA6 56109 genome.wustl.edu 37 5 140754642 140754642 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018919.2 +1 reviewed p.A331V 0.069 87 0% 173 29.5% 0 - benign(0.007) deleterious(0.02) neutral(0.383) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140754966 140754966 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018919.2 +1 reviewed p.S439Y 0.000 51 0% 132 25% 1 0% benign(0.001) tolerated(1) - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140763193 140763193 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018920.2 +1 reviewed p.S243A 0.019 26 0% 46 28.3% 0 - benign(0.003) tolerated(0.14) neutral(0.249) superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140763408 140763408 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018920.2 +1 reviewed p.F314L 0.086 71 0% 165 38.8% 0 - benign(0.002) tolerated(0.71) neutral(0.002) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140769554 140769554 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003736.2 +1 reviewed p.F701L 0.999 190 0% 316 30.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PCDHGA8 9708 genome.wustl.edu 37 5 140774651 140774651 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032088.1 +1 reviewed p.V757 0.598 111 0% 149 32.2% 0 - - - - NULL PCDHGA8 9708 genome.wustl.edu 37 5 140774760 140774760 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032088.1 +1 reviewed p.S794P 0.003 127 0% 148 25% 0 - benign(0) tolerated(0.33) neutral(0.024) NULL PCDHGA9 56107 genome.wustl.edu 37 5 140784961 140784961 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032089.1 +1 reviewed p.F814L 0.005 71 0% 78 32.1% 0 - - - - NULL PCDHGA10 56106 genome.wustl.edu 37 5 140793778 140793778 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018913.2 +1 reviewed p.D346Y 1.000 71 0% 160 25.6% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140798403 140798403 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018927.2 +1 reviewed p.S326F 0.906 112 0% 224 36.2% 0 - benign(0.223) deleterious(0) neutral(0.467) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140799151 140799151 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018927.2 +1 reviewed p.F575 1.000 22 0% 23 21.7% 3 0% - - - superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140801739 140801739 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018914.2 +1 reviewed p.F315L 0.003 47 0% 107 27.1% 0 - benign(0.002) tolerated(0.72) neutral(0.002) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140802329 140802329 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018914.2 +1 reviewed p.T512N 0.836 129 0% 191 28.8% 0 - possibly_damaging(0.865) tolerated(0.34) neutral(0.358) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140811795 140811795 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003735.2 +1 reviewed p.S490Y 0.990 74 0% 163 31.9% 2 50% benign(0.262) tolerated(0.06) neutral(0.350) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC3 5098 genome.wustl.edu 37 5 140856643 140856643 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002588.2 +1 reviewed p.I320M 1.000 39 0% 50 30% 8 0% probably_damaging(0.996) tolerated(0.92) neutral(0.462) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC4 56098 genome.wustl.edu 37 5 140865237 140865237 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018928.2 +1 reviewed p.S166L 1.000 33 0% 42 28.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HDAC3 8841 genome.wustl.edu 37 5 141005332 141005332 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003883.3 -1 reviewed e13-1 1.000 260 0% 286 25.5% 2 100% - - - - RELL2 285613 genome.wustl.edu 37 5 141018406 141018406 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130029.1 +1 validated p.R77C 1.000 222 0% 416 30.3% 3 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ARAP3 64411 genome.wustl.edu 37 5 141038146 141038146 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022481.5 -1 reviewed p.K1137N 1.000 148 0% 201 27.9% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RA ARAP3 64411 genome.wustl.edu 37 5 141039040 141039040 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022481.5 -1 reviewed p.D1091N 1.000 66 0% 65 21.5% 4 0% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_RhoGAP,superfamily_Rho_GAP ARAP3 64411 genome.wustl.edu 37 5 141059382 141059382 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022481.5 -1 reviewed p.D178Y 0.968 69 0% 150 31.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RNF14 9604 genome.wustl.edu 37 5 141353306 141353306 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004290.3 +1 reviewed p.S51 0.999 158 0% 152 30.9% 25 4% - - - HMMPfam_RWD,HMMSmart_SM00591,superfamily_UBC-like GNPDA1 10007 genome.wustl.edu 37 5 141391505 141391505 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005471.4 -1 validated p.E32 0.860 127 0% 255 33.7% 45 44.4% - - - HMMPfam_Glucosamine_iso,superfamily_SSF100950 NR3C1 2908 genome.wustl.edu 37 5 142779446 142779446 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024094.1 -1 reviewed p.S320Y 1.000 73 0% 106 31.1% 5 20% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_GCR KCTD16 57528 genome.wustl.edu 37 5 143586884 143586884 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020768.3 +1 validated p.E203* 1.000 124 0.8% 175 34.3% 0 - - - - NULL KCTD16 57528 genome.wustl.edu 37 5 143586896 143586896 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020768.3 +1 validated p.E207* 1.000 120 0% 168 28.6% 0 - - - - NULL KCTD16 57528 genome.wustl.edu 37 5 143587043 143587043 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020768.3 +1 validated p.A256S 1.000 74 0% 101 31.7% 1 100% benign(0.19) tolerated(0.24) neutral(0.055) NULL PLAC8L1 153770 genome.wustl.edu 37 5 145464036 145464036 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029869.1 -1 provisional p.E165* 0.990 128 0% 89 20.2% 4 100% - - - NULL LARS 51520 genome.wustl.edu 37 5 145523844 145523844 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020117.9 -1 reviewed p.R575I 1.000 216 0% 71 28.2% 68 42.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Nucleotidylyl transferase LARS 51520 genome.wustl.edu 37 5 145539988 145539988 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020117.9 -1 reviewed p.R219K 1.000 108 0% 72 37.5% 13 15.3% benign(0.047) tolerated(0.1) neutral(0.289) superfamily_Nucleotidylyl transferase LARS 51520 genome.wustl.edu 37 5 145557139 145557139 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020117.9 -1 reviewed p.V32 0.568 135 0% 166 26.5% 31 38.7% - - - superfamily_Nucleotidylyl transferase RBM27 54439 genome.wustl.edu 37 5 145608584 145608584 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018989.1 +1 validated p.E127* 1.000 99 0% 108 14.8% 9 0% - - - NULL RBM27 54439 genome.wustl.edu 37 5 145610433 145610433 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018989.1 +1 validated p.S268Y 1.000 96 1% 72 29.2% 11 9% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL RBM27 54439 genome.wustl.edu 37 5 145643188 145643188 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018989.1 +1 validated p.D775E 1.000 147 0% 129 33.3% 8 50% benign(0.011) tolerated(1) neutral(0.001) NULL TCERG1 10915 genome.wustl.edu 37 5 145838889 145838889 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006706.3 +1 reviewed p.Q294P 1.000 81 0% 114 16.7% 31 0% unknown(0) tolerated(0.37) - NULL TCERG1 10915 genome.wustl.edu 37 5 145838893 145838911 + Frame_Shift_Del DEL AGTATCAAGTGAGTACCAC AGTATCAAGTGAGTACCAC - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 AGTATCAAGTGAGTACCAC AGTATCAAGTGAGTACCAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006706.3 +1 reviewed p.V296fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL TCERG1 10915 genome.wustl.edu 37 5 145878230 145878230 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006706.3 +1 reviewed p.S788L 1.000 200 0% 138 36.2% 21 52.3% unknown(0) deleterious(0.03) - superfamily_FF domain PPP2R2B 5521 genome.wustl.edu 37 5 146017938 146017938 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181676.2 -1 reviewed p.T225 0.372 123 0% 55 27.3% 1 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like STK32A 202374 genome.wustl.edu 37 5 146752738 146752738 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001112724.1 +1 validated p.E262K 1.000 135 0% 66 28.8% 0 - benign(0.124) tolerated(0.68) neutral(0.012) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DPYSL3 1809 genome.wustl.edu 37 5 146795377 146795377 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001387.2 -1 validated p.E125* 0.997 155 0% 83 18.1% 31 0% - - - HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 JAKMIP2 9832 genome.wustl.edu 37 5 146997676 146997676 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014790.3 -1 provisional p.R715K 1.000 177 0% 98 32.7% 2 0% benign(0.059) tolerated(1) neutral(0.004) NULL JAKMIP2 9832 genome.wustl.edu 37 5 147028030 147028030 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014790.3 -1 provisional p.R282Q 1.000 341 0% 178 32.6% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL JAKMIP2 9832 genome.wustl.edu 37 5 147040649 147040649 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014790.3 -1 provisional p.K163N 1.000 125 0% 99 41.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SPINK5 11005 genome.wustl.edu 37 5 147449995 147449995 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127698.1 +1 reviewed p.A64V 0.006 74 0% 41 31.7% 0 - possibly_damaging(0.748) deleterious(0) deleterious(0.719) HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors SPINK5 11005 genome.wustl.edu 37 5 147478852 147478852 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127698.1 +1 reviewed p.E356* 0.756 108 0% 73 27.4% 0 - - - - NULL SPINK5 11005 genome.wustl.edu 37 5 147486665 147486665 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127698.1 +1 reviewed p.N515 0.973 101 0% 35 34.3% 0 - - - - HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors SPINK5 11005 genome.wustl.edu 37 5 147498123 147498123 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127698.1 +1 reviewed p.K746E 0.001 76 0% 42 31% 0 - benign(0.394) tolerated(0.8) neutral(0.127) HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors SPINK13 153218 genome.wustl.edu 37 5 147661671 147661671 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040129.2 +1 provisional p.R38Q 0.000 145 0% 80 32.5% 0 - benign(0.004) tolerated(0.39) neutral(0.016) superfamily_Kazal-type serine protease inhibitors FBXO38 81545 genome.wustl.edu 37 5 147795508 147795508 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_205836.1 +1 validated p.R428* 1.000 179 0% 95 29.5% 11 9% - - - superfamily_RNI-like SH3TC2 79628 genome.wustl.edu 37 5 148420228 148420228 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024577.3 -1 reviewed p.K248N 1.000 114 0% 56 41.1% 0 - possibly_damaging(0.496) deleterious(0.03) deleterious(0.530) superfamily_SH3-domain ABLIM3 22885 genome.wustl.edu 37 5 148563139 148563139 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014945.2 +1 validated p.C46* 1.000 71 0% 44 47.7% 1 0% - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) AFAP1L1 134265 genome.wustl.edu 37 5 148709233 148709233 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152406.2 +1 validated p.A605 1.000 73 0% 53 28.3% 0 - - - - NULL AFAP1L1 134265 genome.wustl.edu 37 5 148709381 148709381 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152406.2 +1 validated p.R655W 1.000 113 0% 88 39.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ARHGEF37 389337 genome.wustl.edu 37 5 149006760 149006760 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001669.2 +1 validated p.R529Q 0.950 74 0% 46 30.4% 5 20% probably_damaging(0.994) tolerated(0.09) deleterious(0.748) HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2 PDE6A 5145 genome.wustl.edu 37 5 149278054 149278054 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000440.2 -1 reviewed p.L427M 1.000 145 0% 105 25.7% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 PDE6A 5145 genome.wustl.edu 37 5 149310679 149310679 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000440.2 -1 reviewed p.R257Q 1.000 123 0% 177 36.7% 0 - probably_damaging(1) tolerated(0.27) deleterious(0.533) HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 SLC26A2 1836 genome.wustl.edu 37 5 149359973 149359973 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000112.3 +1 reviewed p.L273I 1.000 180 0% 131 36.6% 16 31.2% possibly_damaging(0.812) deleterious(0.02) deleterious(0.689) HMMPfam_Sulfate_transp TIGD6 81789 genome.wustl.edu 37 5 149375387 149375387 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030953.2 -1 validated p.I175 1.000 149 0% 174 28.7% 1 0% - - - HMMPfam_DDE HMGXB3 22993 genome.wustl.edu 37 5 149389835 149389835 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014983.2 +1 validated p.P158 0.000 57 1.8% 62 22.6% 21 57.1% - - - NULL CSF1R 1436 genome.wustl.edu 37 5 149456996 149456996 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005211.3 -1 reviewed p.L244 0.109 328 0% 348 29.3% 25 0% - - - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 CAMK2A 815 genome.wustl.edu 37 5 149652713 149652713 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015981.3 -1 reviewed p.F24L 1.000 78 0% 80 32.5% 0 - possibly_damaging(0.919) deleterious(0) deleterious(0.814) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase NDST1 3340 genome.wustl.edu 37 5 149907758 149907758 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001543.4 +1 validated p.T302 0.000 42 0% 70 15.7% 83 38.5% - - - NULL SYNPO 11346 genome.wustl.edu 37 5 150029289 150029289 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007286.5 +1 validated p.Y484 0.809 30 0% 46 26.1% 9 0% - - - NULL ZNF300 91975 genome.wustl.edu 37 5 150276275 150276275 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052860.2 -1 reviewed p.E176* 0.001 108 0% 69 37.7% 0 - - - - NULL ZNF300 91975 genome.wustl.edu 37 5 150276461 150276461 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052860.2 -1 reviewed p.G114* 0.982 94 0% 55 9.1% 1 0% - - - NULL GPX3 2878 genome.wustl.edu 37 5 150407084 150407084 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002084.3 +1 reviewed p.F151V 0.996 58 0% 72 30.6% 18 27.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GSHPx,superfamily_Thioredoxin-like FAT2 2196 genome.wustl.edu 37 5 150947647 150947647 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001447.2 -1 reviewed p.S282 0.842 48 0% 34 26.5% 0 - - - - superfamily_Cadherin-like G3BP1 10146 genome.wustl.edu 37 5 151179493 151179493 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005754.2 +1 reviewed p.R296I 1.000 96 0% 49 24.5% 146 35.6% unknown(0) deleterious(0.05) - NULL GLRA1 2741 genome.wustl.edu 37 5 151234713 151234713 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000171.3 -1 reviewed p.I195 1.000 229 0.4% 192 35.4% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GLRA1 2741 genome.wustl.edu 37 5 151239414 151239414 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000171.3 -1 reviewed p.F136L 1.000 203 0% 126 29.4% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GRIA1 2890 genome.wustl.edu 37 5 153026701 153026701 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000827.3 +1 reviewed p.F145C 1.000 99 0% 37 45.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I FAM114A2 10827 genome.wustl.edu 37 5 153414288 153414288 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000442256 -1 known p.E76* 0.042 150 0% 152 13.2% 0 - - - - NULL MFAP3 4238 genome.wustl.edu 37 5 153429140 153429140 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_024152.1 +1 validated NULL 0.041 34 0% 24 33.3% 2 0% - - - - LARP1 23367 genome.wustl.edu 37 5 154179522 154179522 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015315.3 +1 validated p.S469P 1.000 83 1.2% 84 36.9% 86 48.8% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL GEMIN5 25929 genome.wustl.edu 37 5 154280932 154280932 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015465.3 -1 validated p.A994V 1.000 71 0% 45 24.4% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GEMIN5 25929 genome.wustl.edu 37 5 154282160 154282160 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015465.3 -1 validated p.V935 0.992 221 0% 106 33% 12 41.6% - - - NULL GEMIN5 25929 genome.wustl.edu 37 5 154305458 154305458 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015465.3 -1 validated p.K419N 0.989 43 0% 60 31.7% 11 36.3% probably_damaging(0.993) tolerated(0.15) deleterious(0.691) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KIF4B 285643 genome.wustl.edu 37 5 154395819 154395819 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099293.1 +1 provisional p.F800L 0.935 107 0% 134 29.9% 1 0% benign(0.002) tolerated(0.48) neutral(0.011) NULL HAVCR1 26762 genome.wustl.edu 37 5 156479479 156479479 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099414.1 -1 reviewed p.S189I 0.001 303 0% 204 28.9% 0 - unknown(0) tolerated(0.05) - NULL HAVCR1 26762 genome.wustl.edu 37 5 156482295 156482295 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099414.1 -1 reviewed p.D99G 0.998 59 0% 84 23.8% 0 - unknown(0) deleterious(0) - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HAVCR2 84868 genome.wustl.edu 37 5 156533969 156533969 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032782.3 -1 validated p.S21 0.012 23 0% 16 31.2% 17 0% - - - NULL CYFIP2 26999 genome.wustl.edu 37 5 156750999 156750999 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037332.2 +1 validated p.S581I 1.000 102 0% 107 31.8% 27 37% possibly_damaging(0.662) deleterious(0.01) deleterious(0.640) HMMPfam_FragX_IP CYFIP2 26999 genome.wustl.edu 37 5 156757800 156757800 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037332.2 +1 validated p.I736S 1.000 194 0% 128 28.9% 50 36% benign(0.001) tolerated(0.4) neutral(0.016) HMMPfam_FragX_IP CYFIP2 26999 genome.wustl.edu 37 5 156766115 156766115 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037332.2 +1 validated p.C812 1.000 72 0% 46 32.6% 48 31.2% - - - HMMPfam_FragX_IP ADAM19 8728 genome.wustl.edu 37 5 156916128 156916128 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033274.2 -1 reviewed p.T769 0.000 82 0% 99 28.3% 11 9% - - - NULL C5orf52 100190949 genome.wustl.edu 37 5 157106880 157106880 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145132.1 +1 validated p.I118S 0.531 64 0% 91 24.2% 0 - benign(0.075) deleterious(0.02) neutral(0.388) NULL RNF145 153830 genome.wustl.edu 37 5 158589972 158589972 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144726.1 -1 provisional p.I441V 1.000 80 0% 129 11.6% 30 16.6% benign(0.227) tolerated(0.24) neutral(0.060) NULL PWWP2A 114825 genome.wustl.edu 37 5 159520275 159520275 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130864.1 -1 validated p.R461Q 0.999 133 0% 95 34.7% 12 50% probably_damaging(1) tolerated(0.22) deleterious(0.542) NULL C5orf54 63920 genome.wustl.edu 37 5 159820717 159820717 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022090.3 -1 validated p.L594R 0.998 59 0% 35 22.9% 1 0% possibly_damaging(0.547) deleterious(0) deleterious(0.630) NULL C5orf54 63920 genome.wustl.edu 37 5 159821820 159821820 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022090.3 -1 validated p.F226L 1.000 103 0% 67 22.4% 5 60% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL C5orf54 63920 genome.wustl.edu 37 5 159821921 159821921 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022090.3 -1 validated p.R193C 0.995 96 0% 62 29% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP10B 23120 genome.wustl.edu 37 5 160114941 160114941 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025153.2 -1 validated p.V47 0.709 146 0% 84 40.5% 0 - - - - NULL GABRA1 2554 genome.wustl.edu 37 5 161300226 161300226 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000806.5 +1 reviewed p.K120T 1.000 63 0% 17 23.5% 0 - probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA1 2554 genome.wustl.edu 37 5 161317943 161317943 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000806.5 +1 reviewed p.R248I 1.000 191 0% 66 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD HMMR 3161 genome.wustl.edu 37 5 162910091 162910091 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142556.1 +1 reviewed p.S533Y 0.920 26 0% 17 52.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HMMR 3161 genome.wustl.edu 37 5 162910314 162910314 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142556.1 +1 reviewed p.E576* 1.000 58 0% 31 25.8% 8 0% - - - NULL MAT2B 27430 genome.wustl.edu 37 5 162943752 162943752 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000421814 +1 known p.G252D 0.000 63 0% 54 33.3% 3 100% unknown(0) - - HMMPfam_RmlD_sub_bind MAT2B 27430 genome.wustl.edu 37 5 162945287 162945287 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013283.3 +1 reviewed p.R308Q 0.982 176 0% 148 42.6% 61 39.3% benign(0.012) tolerated(0.39) neutral(0.017) HMMPfam_RmlD_sub_bind,superfamily_NAD(P)-binding Rossmann-fold domains ODZ2 57451 genome.wustl.edu 37 5 167379737 167379737 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122679.1 +1 inferred p.A286V 0.992 133 0% 83 27.7% 0 - benign(0.051) deleterious(0.05) neutral(0.348) HMMPfam_Ten_N ODZ2 57451 genome.wustl.edu 37 5 167631511 167631511 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122679.1 +1 inferred p.L1228M 1.000 160 0% 52 23.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Concanavalin A-like lectins/glucanases,superfamily_NHL repeat ODZ2 57451 genome.wustl.edu 37 5 167653195 167653195 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122679.1 +1 inferred p.N1728 1.000 36 0% 30 30% 1 0% - - - superfamily_Concanavalin A-like lectins/glucanases ODZ2 57451 genome.wustl.edu 37 5 167671440 167671440 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122679.1 +1 inferred p.L1837I 1.000 87 0% 77 36.4% 0 - possibly_damaging(0.724) tolerated(0.06) deleterious(0.586) superfamily_Concanavalin A-like lectins/glucanases WWC1 23286 genome.wustl.edu 37 5 167881049 167881049 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015238.2 +1 reviewed p.E868* 0.947 68 0% 67 23.9% 21 23.8% - - - NULL SLIT3 6586 genome.wustl.edu 37 5 168151443 168151443 + Missense_Mutation SNP C C T rs138524475 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003062.2 -1 validated p.A773T 0.212 113 0% 129 24% 11 9% benign(0) tolerated(0.81) neutral(0.001) HMMPfam_LRR_1,superfamily_L domain-like SLIT3 6586 genome.wustl.edu 37 5 168310283 168310283 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003062.2 -1 validated p.D158N 0.996 58 0% 62 38.7% 4 75% benign(0.028) tolerated(0.36) neutral(0.022) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like CCDC99 54908 genome.wustl.edu 37 5 169028727 169028727 + Frame_Shift_Del DEL A A - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000507232 +1 known p.T519fs 0.714 - - - - - - - - - NULL DOCK2 1794 genome.wustl.edu 37 5 169138990 169138990 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004946.2 +1 validated p.R512* 0.998 267 0% 108 39.8% 9 0% - - - NULL DOCK2 1794 genome.wustl.edu 37 5 169145682 169145682 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004946.2 +1 validated p.K718N 1.000 105 0% 39 28.2% 12 0% benign(0.19) tolerated(0.31) neutral(0.045) NULL FAM196B 100131897 genome.wustl.edu 37 5 169308432 169308432 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001129891.1 -1 predicted p.R454Q 1.000 123 0% 54 24.1% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL DOCK2 1794 genome.wustl.edu 37 5 169423165 169423165 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004946.2 +1 validated p.F1023L 1.000 90 0% 24 37.5% 5 0% benign(0) tolerated(0.65) neutral(0.003) NULL DOCK2 1794 genome.wustl.edu 37 5 169461444 169461444 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004946.2 +1 validated p.S1170L 0.989 80 0% 50 24% 13 0% benign(0) tolerated(0.34) neutral(0.023) NULL DOCK2 1794 genome.wustl.edu 37 5 169502959 169502959 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004946.2 +1 validated p.F1579L 1.000 121 0% 73 24.7% 19 0% benign(0) tolerated(1) - superfamily_Cytochrome c KCNIP1 30820 genome.wustl.edu 37 5 170145841 170145841 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001034837.1 +1 reviewed p.N58K 1.000 35 0% 23 30.4% 0 - benign(0.004) tolerated(1) - superfamily_EF-hand GABRP 2568 genome.wustl.edu 37 5 170235639 170235639 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014211.2 +1 reviewed p.R239W 0.570 381 0.3% 148 37.8% 4 0% possibly_damaging(0.913) deleterious(0) deleterious(0.809) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like RANBP17 64901 genome.wustl.edu 37 5 170648817 170648817 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022897.2 +1 provisional p.E799* 1.000 249 0% 81 30.9% 6 83.3% - - - NULL RANBP17 64901 genome.wustl.edu 37 5 170669708 170669708 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022897.2 +1 provisional p.S887Y 1.000 130 0% 117 30.8% 11 45.4% probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL STK10 6793 genome.wustl.edu 37 5 171480016 171480016 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005990.3 -1 reviewed p.E895K 1.000 211 0% 189 31.7% 13 7.6% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL STK10 6793 genome.wustl.edu 37 5 171484367 171484367 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005990.3 -1 reviewed p.R775C 1.000 15 0% 24 33.3% 13 15.3% probably_damaging(0.994) tolerated(0.06) deleterious(0.774) NULL CREBRF 153222 genome.wustl.edu 37 5 172513604 172513604 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153607.2 +1 validated p.S37L 1.000 114 0% 73 12.3% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CREBRF 153222 genome.wustl.edu 37 5 172517522 172517522 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153607.2 +1 validated p.E114* 1.000 121 0% 50 30% 4 0% - - - NULL C5orf47 133491 genome.wustl.edu 37 5 173426701 173426701 + Splice_Site SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144954.1 +1 validated e3-2 0.993 174 0% 144 20.1% 0 - - - - - DRD1 1812 genome.wustl.edu 37 5 174869350 174869350 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000794.3 -1 reviewed p.V251 0.039 117 0% 186 36.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARL10 285598 genome.wustl.edu 37 5 175793412 175793412 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173664.4 +1 validated p.A71 0.980 32 0% 65 33.8% 2 0% - - - HMMPfam_Arf,superfamily_SSF52540 CLTB 1212 genome.wustl.edu 37 5 175824973 175824973 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000310418 -1 known p.R104C 1.000 42 0% 77 33.8% 169 46.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Clathrin_lg_ch CDHR2 54825 genome.wustl.edu 37 5 176002578 176002578 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017675.4 +1 reviewed p.I280 1.000 103 0% 128 31.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDHR2 54825 genome.wustl.edu 37 5 176004670 176004670 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017675.4 +1 reviewed p.F461 0.183 84 0% 129 21.7% 1 100% - - - HMMSmart_CA,superfamily_Cadherin CDHR2 54825 genome.wustl.edu 37 5 176011722 176011722 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017675.4 +1 reviewed p.R814W 0.000 52 0% 73 27.4% 0 - probably_damaging(0.992) tolerated(0.17) deleterious(0.506) HMMPfam_Cadherin,superfamily_Cadherin UNC5A 90249 genome.wustl.edu 37 5 176295878 176295878 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133369.2 +1 validated p.R212C 1.000 18 0% 29 17.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 FGFR4 2264 genome.wustl.edu 37 5 176523708 176523708 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002011.3 +1 reviewed p.R707W 1.000 45 0% 67 29.9% 11 90.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) NSD1 64324 genome.wustl.edu 37 5 176637407 176637407 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022455.4 +1 reviewed p.F669 0.997 59 0% 58 24.1% 7 42.8% - - - NULL NSD1 64324 genome.wustl.edu 37 5 176638766 176638766 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022455.4 +1 reviewed p.I1122M 0.001 176 0% 143 37.8% 7 42.8% possibly_damaging(0.708) deleterious(0.01) deleterious(0.661) NULL PDLIM7 9260 genome.wustl.edu 37 5 176910869 176910869 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005451.3 -1 reviewed p.A429V 1.000 52 0% 74 33.8% 80 23.7% possibly_damaging(0.795) deleterious(0.01) deleterious(0.704) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PDLIM7 9260 genome.wustl.edu 37 5 176910931 176910931 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005451.3 -1 reviewed p.D408 0.915 45 0% 96 34.4% 132 27.2% - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LOC202181 202181 genome.wustl.edu 37 5 177054520 177054520 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026921.1 -1 predicted NULL 1.000 93 0% 71 21.1% 6 33.3% - - - - HNRNPAB 3182 genome.wustl.edu 37 5 177637233 177637233 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031266.2 +1 reviewed p.S296 1.000 33 0% 61 24.6% 499 45.4% - - - NULL ZNF354A 6940 genome.wustl.edu 37 5 178139290 178139290 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005649.2 -1 validated p.S530Y 0.716 213 0% 189 38.1% 23 69.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354A 6940 genome.wustl.edu 37 5 178139674 178139674 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005649.2 -1 validated p.R402I 1.000 170 0% 124 21.8% 9 33.3% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354A 6940 genome.wustl.edu 37 5 178139890 178139890 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005649.2 -1 validated p.P330L 0.955 112 0% 84 19% 5 80% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL ZNF354B 117608 genome.wustl.edu 37 5 178310910 178310910 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058230.2 +1 validated p.R486I 0.996 183 0% 156 26.3% 14 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354B 117608 genome.wustl.edu 37 5 178311278 178311278 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058230.2 +1 validated p.D609N 0.000 50 0% 33 39.4% 6 66.6% benign(0) tolerated(0.75) neutral(0.002) NULL ENSG00000249299 0 genome.wustl.edu 37 5 178358274 178358274 + RNA SNP C C A rs111355847 byCluster;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000503510 -1 novel NULL 0.000 50 0% 46 32.6% 6 66.6% - - - - ZFP2 80108 genome.wustl.edu 37 5 178358586 178358586 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030613.2 +1 provisional p.K91T 0.259 87 0% 81 33.3% 2 100% benign(0.021) tolerated(0.63) neutral(0.005) superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178391932 178391932 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182594.2 +1 validated p.N176T 0.005 111 0% 74 39.2% 1 0% benign(0) tolerated(0.07) neutral(0.319) superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178391990 178391990 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182594.2 +1 validated p.K195 0.185 103 0% 60 15% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178392301 178392301 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182594.2 +1 validated p.P299H 1.000 72 0% 49 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers GRM6 2916 genome.wustl.edu 37 5 178408725 178408725 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000843.3 -1 reviewed p.R856Q 1.000 81 0% 111 36% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL GRM6 2916 genome.wustl.edu 37 5 178408806 178408806 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000843.3 -1 reviewed p.S829L 1.000 67 0% 86 40.7% 0 - benign(0.252) deleterious(0) deleterious(0.471) HMMPfam_7tm_3 ZNF354C 30832 genome.wustl.edu 37 5 178506429 178506429 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014594.1 +1 provisional p.E332D 0.006 95 0% 58 41.4% 1 0% possibly_damaging(0.678) tolerated(0.09) deleterious(0.538) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354C 30832 genome.wustl.edu 37 5 178506724 178506724 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014594.1 +1 provisional p.R431W 0.984 96 0% 52 42.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ADAMTS2 9509 genome.wustl.edu 37 5 178540982 178540982 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014244.2 -1 reviewed p.V1174 0.885 406 0% 606 31.2% 32 18.7% - - - NULL ADAMTS2 9509 genome.wustl.edu 37 5 178548672 178548672 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014244.2 -1 reviewed p.K1056N 1.000 119 0% 186 37.6% 25 56% benign(0.009) tolerated(0.12) neutral(0.261) NULL LOC100289470 100289470 genome.wustl.edu 37 5 178951602 178951602 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342585.1 +1 model p.T215A 0.000 187 0% 255 22.4% 0 - - - - NULL LOC100289470 100289470 genome.wustl.edu 37 5 179079416 179079416 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342585.1 +1 model p.D269N 0.000 250 0% 461 29.1% 0 - unknown(0) - - NULL CANX 821 genome.wustl.edu 37 5 179132791 179132791 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024649.1 +1 reviewed p.D37N 1.000 263 0% 323 32.5% 448 44.4% possibly_damaging(0.507) deleterious(0) deleterious(0.614) NULL RNF130 55819 genome.wustl.edu 37 5 179393884 179393884 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018434.4 -1 reviewed p.R358* 1.000 100 0% 151 37.7% 89 2.2% - - - NULL RNF130 55819 genome.wustl.edu 37 5 179440128 179440128 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018434.4 -1 reviewed p.S209Y 1.000 86 0% 41 58.5% 38 10.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RNF130 55819 genome.wustl.edu 37 5 179440253 179440253 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018434.4 -1 reviewed p.S167R 0.996 78 0% 39 35.9% 19 15.7% benign(0.053) tolerated(0.56) neutral(0.010) HMMPfam_PA,superfamily_SSF52025 RASGEF1C 255426 genome.wustl.edu 37 5 179538515 179538515 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175062.3 -1 validated p.F415 0.997 107 0% 171 28.1% 1 0% - - - HMMSmart_SM00147,superfamily_Ras GEF GFPT2 9945 genome.wustl.edu 37 5 179755293 179755293 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005110.2 -1 provisional p.E194* 1.000 170 0% 214 36.4% 1 0% - - - HMMPfam_GATase_2,superfamily_SSF56235 GFPT2 9945 genome.wustl.edu 37 5 179763551 179763551 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005110.2 -1 provisional p.E48K 0.893 160 0% 245 35.1% 1 0% benign(0.11) tolerated(0.45) neutral(0.021) HMMPfam_GATase_2,superfamily_SSF56235 IRF4 3662 genome.wustl.edu 37 6 398927 398927 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002460.2 +1 validated p.A246V 1.000 63 0% 86 33.7% 16 0% benign(0) tolerated(0.58) neutral(0.005) NULL C6orf195 154386 genome.wustl.edu 37 6 2623694 2623694 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152554.2 -1 validated p.E121D 0.000 90 0% 68 26.5% 1 100% unknown(0) - - NULL MYLK4 340156 genome.wustl.edu 37 6 2671574 2671574 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012418.3 -1 validated p.K376N 0.969 81 1.2% 93 37.6% 0 - benign(0.086) tolerated(0.31) neutral(0.034) NULL WRNIP1 56897 genome.wustl.edu 37 6 2769106 2769106 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020135.2 +1 reviewed p.K335T 1.000 109 0% 177 28.2% 76 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SERPINB1 1992 genome.wustl.edu 37 6 2834189 2834189 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030666.2 -1 provisional p.D265N 0.000 18 0% 18 44.4% 64 17.1% benign(0.005) tolerated(0.42) neutral(0.014) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB6 5269 genome.wustl.edu 37 6 2948900 2948900 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004568.4 -1 validated p.E255* 0.566 112 0% 147 27.2% 126 12.6% - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin PXDC1 221749 genome.wustl.edu 37 6 3737393 3737393 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183373.3 -1 validated p.R129I 1.000 195 0% 241 30.3% 16 37.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_PX PRPF4B 8899 genome.wustl.edu 37 6 4032426 4032426 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003913.4 +1 reviewed p.S225 0.997 65 0% 68 36.8% 17 17.6% - - - NULL PRPF4B 8899 genome.wustl.edu 37 6 4032607 4032607 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003913.4 +1 reviewed p.R286C 0.997 40 0% 49 28.6% 11 63.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PRPF4B 8899 genome.wustl.edu 37 6 4056649 4056649 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003913.4 +1 reviewed p.F854C 1.000 224 0% 131 27.5% 26 57.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FAM217A 222826 genome.wustl.edu 37 6 4069401 4069401 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173563.1 -1 predicted p.K352N 0.858 152 0% 117 27.4% 0 - benign(0.261) deleterious(0) deleterious(0.472) NULL C6orf201 404220 genome.wustl.edu 37 6 4122245 4122245 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001085401.1 +1 validated p.R116I 0.000 121 0% 80 36.2% 0 - benign(0.024) tolerated(0.08) neutral(0.301) NULL RPP40 10799 genome.wustl.edu 37 6 4995373 4995373 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006638.2 -1 validated p.F344C 1.000 100 0% 116 31.9% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribonuc_P_40 RPP40 10799 genome.wustl.edu 37 6 4999053 4999053 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006638.2 -1 validated p.E152D 0.501 81 0% 137 29.9% 2 0% benign(0) tolerated(1) - HMMPfam_Ribonuc_P_40 F13A1 2162 genome.wustl.edu 37 6 6305753 6305753 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000451619 -1 known p.A75V 0.000 155 0% 85 23.5% 2 0% - - - HMMPfam_Transglut_N,superfamily_E set domains CAGE1 285782 genome.wustl.edu 37 6 7373724 7373724 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_205864.2 -1 validated p.K307T 0.000 340 0% 267 26.2% 0 - possibly_damaging(0.478) deleterious(0.01) deleterious(0.564) NULL CAGE1 285782 genome.wustl.edu 37 6 7374171 7374171 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_205864.2 -1 validated p.E158A 0.063 189 0% 121 32.2% 0 - benign(0.313) tolerated(0.08) neutral(0.397) NULL DSP 1832 genome.wustl.edu 37 6 7580074 7580074 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004415.2 +1 reviewed p.T1217 1.000 49 0% 43 25.6% 5 20% - - - NULL BMP6 654 genome.wustl.edu 37 6 7880479 7880479 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001718.4 +1 reviewed p.K482T 1.000 226 0% 183 27.3% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 MUTED 63915 genome.wustl.edu 37 6 8015955 8015955 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201280.1 -1 reviewed p.R164I 0.981 264 0% 203 31.5% 10 30% probably_damaging(0.982) deleterious(0.04) deleterious(0.775) NULL OFCC1 266553 genome.wustl.edu 37 6 9897124 9897124 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000316020 -1 known p.R275I 0.000 79 0% 37 29.7% 0 - possibly_damaging(0.903) - - NULL OFCC1 266553 genome.wustl.edu 37 6 9897195 9897195 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000316020 -1 known p.M251I 0.000 84 0% 34 32.4% 0 - benign(0.007) - - NULL TFAP2A 7020 genome.wustl.edu 37 6 10400775 10400775 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003220.2 -1 reviewed p.E311K 1.000 103 0% 228 22.8% 4 75% possibly_damaging(0.909) deleterious(0) deleterious(0.806) HMMPfam_TF_AP-2 GCNT2 2651 genome.wustl.edu 37 6 10621675 10621675 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145649.4 +1 reviewed p.H339 0.668 94 0% 112 34.8% 7 14.2% - - - NULL PAK1IP1 55003 genome.wustl.edu 37 6 10704880 10704880 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017906.2 +1 validated p.L213I 1.000 197 0% 123 27.6% 17 23.5% benign(0.082) tolerated(0.27) neutral(0.040) HMMSmart_WD40,superfamily_WD40_like PAK1IP1 55003 genome.wustl.edu 37 6 10707719 10707719 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017906.2 +1 validated p.I271T 1.000 257 0% 179 27.9% 43 44.1% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 MAK 4117 genome.wustl.edu 37 6 10804098 10804098 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005906.3 -1 reviewed p.R173I 1.000 92 0% 90 31.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GCM2 9247 genome.wustl.edu 37 6 10874513 10874513 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004752.3 -1 reviewed p.S412 0.000 153 0% 171 33.9% 0 - - - - NULL SYCP2L 221711 genome.wustl.edu 37 6 10907891 10907891 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040274.2 +1 validated p.E265* 0.998 133 0% 76 30.3% 1 0% - - - NULL SYCP2L 221711 genome.wustl.edu 37 6 10924791 10924791 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040274.2 +1 validated p.E379K 0.997 126 0% 79 32.9% 0 - probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL ELOVL2 54898 genome.wustl.edu 37 6 11011016 11011016 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017770.3 -1 validated p.E10 0.995 138 0% 68 32.4% 0 - - - - NULL SIRT5 23408 genome.wustl.edu 37 6 13599362 13599362 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012241.3 +1 reviewed p.L239R 0.996 101 0% 107 29% 12 41.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SIR2,superfamily_DHS-like NAD/FAD-binding domain RANBP9 10048 genome.wustl.edu 37 6 13634669 13634669 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005493.2 -1 reviewed p.E597K 1.000 96 0% 54 29.6% 63 44.4% benign(0.124) deleterious(0.04) neutral(0.359) NULL RNF182 221687 genome.wustl.edu 37 6 13978019 13978019 + Silent SNP C C T rs146298832 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152737.3 +1 validated p.L223 0.986 226 0% 154 30.5% 1 0% - - - NULL CD83 9308 genome.wustl.edu 37 6 14133900 14133900 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004233.3 +1 validated p.E135* 0.048 185 0% 127 37.8% 10 20% - - - superfamily_Immunoglobulin JARID2 3720 genome.wustl.edu 37 6 15501454 15501454 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004973.2 +1 reviewed p.F754 0.995 29 0% 65 43.1% 13 46.1% - - - NULL JARID2 3720 genome.wustl.edu 37 6 15507482 15507482 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004973.2 +1 reviewed p.S886L 1.000 112 0% 155 31.6% 22 45.4% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMSmart_SM00558 DTNBP1 84062 genome.wustl.edu 37 6 15524782 15524782 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032122.3 -1 reviewed p.E262 0.003 119 0% 167 39.5% 57 45.6% - - - HMMPfam_Dysbindin CAP2 10486 genome.wustl.edu 37 6 17556593 17556593 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006366.2 +1 reviewed p.E452* 1.000 193 0% 166 27.1% 8 75% - - - HMMPfam_CAP_C,superfamily_C-terminal domain of adenylylcyclase associated protein,PatternScan_CAP_2 KIF13A 63971 genome.wustl.edu 37 6 17772258 17772258 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022113.4 -1 validated p.V1453I 0.045 119 0% 94 40.4% 22 40.9% benign(0) tolerated(0.34) neutral(0.023) NULL E2F3 1871 genome.wustl.edu 37 6 20483134 20483134 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001949.3 +1 reviewed p.E289 1.000 76 0% 50 22% 10 20% - - - NULL CDKAL1 54901 genome.wustl.edu 37 6 21201492 21201492 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017774.3 +1 reviewed p.S512L 1.000 54 0% 40 40% 18 44.4% possibly_damaging(0.905) deleterious(0.01) deleterious(0.765) NULL HDGFL1 154150 genome.wustl.edu 37 6 22569930 22569930 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138574.2 +1 provisional p.F42L 1.000 79 0% 133 39.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PWWP,HMMSmart_PWWP,superfamily_SSF63748 DCDC2 51473 genome.wustl.edu 37 6 24278332 24278332 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016356.3 -1 reviewed p.T289 0.000 355 0% 203 32% 10 40% - - - NULL GPLD1 2822 genome.wustl.edu 37 6 24447160 24447160 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001503.2 -1 reviewed p.D576Y 0.997 107 0% 102 22.5% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ALDH5A1 7915 genome.wustl.edu 37 6 24528375 24528375 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170740.1 +1 reviewed p.P455S 1.000 58 0% 35 22.9% 14 57.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Aldedh,superfamily_ALDH-like KIAA0319 9856 genome.wustl.edu 37 6 24570254 24570254 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014809.3 -1 reviewed p.R623I 0.998 120 0% 54 37% 1 100% possibly_damaging(0.667) deleterious(0.01) deleterious(0.641) HMMSmart_SM00089,superfamily_PKD domain,HMMSmart_SM00060 TDP2 51567 genome.wustl.edu 37 6 24651150 24651150 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016614.2 -1 reviewed p.F319V 0.999 132 1.5% 167 11.4% 22 9% possibly_damaging(0.61) deleterious(0.01) deleterious(0.617) HMMPfam_Exo_endo_phos TDP2 51567 genome.wustl.edu 37 6 24651202 24651202 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016614.2 -1 reviewed p.M301I 0.312 151 0% 211 32.7% 30 43.3% benign(0.004) tolerated(0.55) neutral(0.007) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos FAM65B 9750 genome.wustl.edu 37 6 24809984 24809984 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014722.2 -1 validated p.E1023* 1.000 125 0% 85 37.6% 0 - - - - superfamily_ARM repeat LRRC16A 55604 genome.wustl.edu 37 6 25285041 25285041 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017640.5 +1 validated p.E14D 1.000 179 0% 209 31.6% 3 0% probably_damaging(0.987) tolerated(0.3) neutral(0.465) NULL LRRC16A 55604 genome.wustl.edu 37 6 25556971 25556971 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017640.5 +1 validated p.E879* 1.000 69 0% 24 29.2% 8 25% - - - NULL LRRC16A 55604 genome.wustl.edu 37 6 25556997 25556997 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017640.5 +1 validated p.E887D 1.000 76 0% 17 23.5% 10 40% possibly_damaging(0.651) tolerated(0.55) neutral(0.236) NULL HIST1H2BA 255626 genome.wustl.edu 37 6 25727247 25727247 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170610.2 +1 reviewed p.E37D 1.000 455 0% 361 34.1% 0 - unknown(0) deleterious(0) - HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold SLC17A4 10050 genome.wustl.edu 37 6 25769286 25769286 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005495.2 +1 validated p.M55I 0.957 134 0% 56 26.8% 0 - benign(0.024) deleterious(0) neutral(0.446) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC17A3 10786 genome.wustl.edu 37 6 25861875 25861875 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098486.1 -1 validated p.R201I 0.851 157 0% 75 28% 0 - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC17A3 10786 genome.wustl.edu 37 6 25862047 25862047 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098486.1 -1 validated p.R172* 0.276 133 0% 65 35.4% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC17A2 10246 genome.wustl.edu 37 6 25914874 25914874 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005835.2 -1 validated p.S363F 0.995 104 0% 61 9.8% 0 - possibly_damaging(0.449) deleterious(0) deleterious(0.592) NULL HIST1H1T 3010 genome.wustl.edu 37 6 26108200 26108200 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005323.3 -1 reviewed p.N41S 0.000 103 0% 43 23.3% 0 - benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Linker_histone,HMMSmart_H15,superfamily_SSF46785 HIST1H4F 8361 genome.wustl.edu 37 6 26240930 26240930 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003540.3 +1 reviewed p.R93C 1.000 70 0% 82 15.9% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMSmart_SM00803,HMMPfam_Histone,superfamily_Histone-fold BTN3A1 11119 genome.wustl.edu 37 6 26409879 26409879 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007048.5 +1 validated p.K278N 0.013 99 0% 67 25.4% 25 24% benign(0.004) tolerated(0.56) neutral(0.006) NULL BTN3A1 11119 genome.wustl.edu 37 6 26413480 26413480 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007048.5 +1 validated p.P368S 0.000 246 0% 174 34.5% 43 16.2% probably_damaging(0.989) tolerated(0.44) neutral(0.452) HMMSmart_SM00589 BTN3A3 10384 genome.wustl.edu 37 6 26444392 26444392 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006994.4 +1 validated p.S98L 0.000 252 0.4% 140 21.4% 54 3.7% benign(0.016) tolerated(0.1) neutral(0.287) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 ENSG00000250311 0 genome.wustl.edu 37 6 26476599 26476599 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000511597 -1 known NULL 0.000 47 0% 17 41.2% 4 25% - - - - PRSS16 10279 genome.wustl.edu 37 6 27220721 27220721 + Silent SNP C C T rs191407230 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000475106 +1 known p.R160W 0.983 90 0% 166 30.7% 9 33.3% - - - HMMPfam_Peptidase_S28 POM121L2 94026 genome.wustl.edu 37 6 27276890 27276890 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000444565 -1 known p.K1020N 0.003 150 0% 219 34.7% 0 - probably_damaging(0.978) tolerated(0.29) neutral(0.450) NULL POM121L2 94026 genome.wustl.edu 37 6 27278859 27278859 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000444565 -1 known p.G364V 0.001 153 0% 203 35% 0 - benign(0.096) tolerated(0.19) neutral(0.057) NULL HIST1H1B 3009 genome.wustl.edu 37 6 27835002 27835002 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005322.2 -1 reviewed p.T102 0.991 85 0% 136 31.6% 1 0% - - - HMMPfam_Linker_histone,HMMSmart_H15,superfamily_SSF46785 HIST1H3I 8354 genome.wustl.edu 37 6 27839694 27839694 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003533.2 -1 reviewed p.E134K 1.000 116 0% 194 28.9% 0 - probably_damaging(0.969) - - HMMSmart_SM00428,superfamily_Histone-fold OR2B2 81697 genome.wustl.edu 37 6 27879274 27879274 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033057.2 -1 validated p.S275Y 0.185 78 0% 63 34.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF192P1 651302 genome.wustl.edu 37 6 28134777 28134777 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145129.1 +1 provisional p.Q147 0.156 160 0% 178 34.3% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PGBD1 84547 genome.wustl.edu 37 6 28269252 28269252 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032507.3 +1 reviewed p.E541* 1.000 94 0% 50 32% 2 50% - - - NULL PGBD1 84547 genome.wustl.edu 37 6 28269621 28269621 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032507.3 +1 reviewed p.E664* 0.981 109 0% 64 28.1% 4 75% - - - NULL ZSCAN12 9753 genome.wustl.edu 37 6 28359367 28359367 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000361028 -1 known p.E234* 0.095 157 0% 136 36.8% 0 - - - - NULL ZSCAN12 9753 genome.wustl.edu 37 6 28360757 28360757 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000361028 -1 known p.E157* 0.053 198 0% 196 32.1% 0 - - - - NULL OR2B3 442184 genome.wustl.edu 37 6 29054407 29054407 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005226.2 -1 validated p.L207I 0.000 51 0% 28 35.7% 0 - possibly_damaging(0.888) tolerated(0.09) deleterious(0.644) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2B3 442184 genome.wustl.edu 37 6 29054843 29054843 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005226.2 -1 validated p.F61L 0.996 180 0% 118 63.6% 0 - possibly_damaging(0.531) deleterious(0.03) deleterious(0.543) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2J2 26707 genome.wustl.edu 37 6 29141742 29141742 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030905.2 +1 validated p.I110 0.000 159 0% 157 34.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5V1 81696 genome.wustl.edu 37 6 29323108 29323108 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030876.5 -1 validated p.I289L 0.989 80 0% 50 40% 0 - probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5V1 81696 genome.wustl.edu 37 6 29323709 29323709 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030876.5 -1 validated p.K88N 0.000 64 0% 32 46.9% 0 - benign(0.069) tolerated(0.14) neutral(0.254) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MAS1L 116511 genome.wustl.edu 37 6 29455512 29455512 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052967.1 -1 provisional p.T56 0.000 63 1.6% 29 41.4% 0 - - - - NULL HLA-G 3135 genome.wustl.edu 37 6 29797319 29797319 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002127.5 +1 reviewed p.Q248H 0.850 58 0% 90 17.8% 7 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin DHX16 8449 genome.wustl.edu 37 6 30623000 30623000 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003587.4 -1 reviewed p.V925 0.995 74 0% 104 29.8% 86 32.5% - - - HMMPfam_DUF1605 MDC1 9656 genome.wustl.edu 37 6 30671903 30671903 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014641.2 -1 reviewed p.S1686Y 0.365 107 0% 127 23.6% 36 41.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MDC1 9656 genome.wustl.edu 37 6 30673009 30673009 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014641.2 -1 reviewed p.S1317 0.020 184 0% 198 23.2% 24 45.8% - - - NULL DDR1 780 genome.wustl.edu 37 6 30865856 30865856 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000484556 +1 known p.Q98R 0.771 56 0% 83 32.5% 199 42.2% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) DPCR1 135656 genome.wustl.edu 37 6 30918057 30918057 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000462446 +1 known p.E606* 0.000 237 0% 249 30.1% 0 - - - - NULL DPCR1 135656 genome.wustl.edu 37 6 30918698 30918698 + Silent SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000462446 +1 known p.P819 0.000 258 0% 270 27% 0 - - - - NULL DPCR1 135656 genome.wustl.edu 37 6 30919857 30919857 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080870.3 +1 validated p.E48* 0.000 147 0% 224 26.8% 0 - - - - NULL DPCR1 135656 genome.wustl.edu 37 6 30920080 30920080 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080870.3 +1 validated p.S122Y 0.000 96 0% 111 36.9% 0 - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL CCHCR1 54535 genome.wustl.edu 37 6 31113494 31113494 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105564.1 -1 validated p.R558C 0.968 30 0% 23 39.1% 24 41.6% possibly_damaging(0.904) deleterious(0) deleterious(0.803) HMMPfam_HCR BAG6 7917 genome.wustl.edu 37 6 31608030 31608030 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000441793 -1 known p.R177H 0.122 74 0% 130 32.3% 255 35.2% - - - NULL BAG6 7917 genome.wustl.edu 37 6 31617402 31617402 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004639.3 -1 reviewed p.M37I 1.000 124 0% 209 37.8% 84 45.2% benign(0.001) tolerated(0.8) neutral(0.001) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like LY6G6F 259215 genome.wustl.edu 37 6 31675500 31675500 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001003693.1 +1 provisional p.C106 0.004 95 0% 96 37.5% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin C6orf25 80739 genome.wustl.edu 37 6 31692658 31692658 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000480039 +1 known p.L220I 0.007 37 0% 50 26% 0 - unknown(0) - - NULL VWA7 80737 genome.wustl.edu 37 6 31743922 31743922 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025258.2 -1 validated p.N111T 1.000 57 0% 88 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC44A4 80736 genome.wustl.edu 37 6 31832433 31832433 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025257.2 -1 reviewed p.C669* 0.995 49 0% 49 24.5% 10 10% - - - HMMPfam_DUF580 TNXB 7148 genome.wustl.edu 37 6 32037502 32037502 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019105.6 -1 reviewed p.S1805 1.000 30 0% 38 34.2% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32038079 32038079 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019105.6 -1 reviewed p.F1701 0.481 20 0% 32 34.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RPS18 6222 genome.wustl.edu 37 6 33243786 33243786 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022551.2 +1 reviewed p.K78N 1.000 77 0% 139 10.1% 8027 9% benign(0.019) tolerated(0.21) neutral(0.045) HMMPfam_Ribosomal_S13,superfamily_S13-like H2TH domain B3GALT4 8705 genome.wustl.edu 37 6 33246001 33246001 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003782.3 +1 reviewed p.L269M 0.793 49 0% 39 30.8% 6 33.3% probably_damaging(1) tolerated(0.3) deleterious(0.528) HMMPfam_Galactosyl_T WDR46 9277 genome.wustl.edu 37 6 33256883 33256883 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005452.5 -1 validated p.R22I 0.985 189 0% 220 30% 24 37.5% possibly_damaging(0.59) deleterious(0.04) deleterious(0.553) NULL DAXX 1616 genome.wustl.edu 37 6 33288597 33288597 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001141970.1 -1 reviewed p.D331N 1.000 31 0% 58 36.2% 102 40.1% unknown(0) tolerated(0.06) - HMMPfam_Daxx DAXX 1616 genome.wustl.edu 37 6 33289535 33289535 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001141970.1 -1 reviewed p.K68N 1.000 78 0% 102 29.4% 29 34.4% probably_damaging(0.976) tolerated(0.05) deleterious(0.763) HMMPfam_Daxx GRM4 2914 genome.wustl.edu 37 6 34024461 34024461 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000841.1 -1 reviewed p.G343D 1.000 19 0% 45 26.7% 1 0% benign(0.049) tolerated(0.28) neutral(0.035) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM4 2914 genome.wustl.edu 37 6 34101069 34101069 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000841.1 -1 reviewed p.E69* 1.000 27 0% 31 22.6% 1 100% - - - superfamily_Periplasmic binding protein-like I PACSIN1 29993 genome.wustl.edu 37 6 34500203 34500203 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020804.2 +1 validated p.E411K 1.000 32 0% 63 14.3% 5 80% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain C6orf106 64771 genome.wustl.edu 37 6 34574488 34574488 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024294.2 -1 validated p.F235 1.000 204 0% 119 30.3% 36 41.6% - - - NULL UHRF1BP1 54887 genome.wustl.edu 37 6 34840117 34840117 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017754.3 +1 validated p.E1409* 1.000 130 0% 75 70.7% 4 50% - - - NULL SCUBE3 222663 genome.wustl.edu 37 6 35207596 35207596 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152753.2 +1 provisional p.F299 1.000 65 0% 64 35.9% 3 33.3% - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin SCUBE3 222663 genome.wustl.edu 37 6 35213186 35213186 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152753.2 +1 provisional p.L861 1.000 63 0% 80 33.8% 1 0% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain FANCE 2178 genome.wustl.edu 37 6 35423697 35423697 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021922.2 +1 reviewed p.R141Q 0.481 44 0% 60 35% 2 100% benign(0.004) deleterious(0.03) neutral(0.364) NULL TULP1 7287 genome.wustl.edu 37 6 35480625 35480625 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003322.3 -1 reviewed p.R4Q 0.997 42 0% 67 28.4% 0 - benign(0) tolerated(1) - NULL SRPK1 6732 genome.wustl.edu 37 6 35803115 35803115 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003137.3 -1 reviewed p.A645V 0.944 96 0% 56 30.4% 44 45.4% possibly_damaging(0.829) deleterious(0.04) deleterious(0.663) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SRPK1 6732 genome.wustl.edu 37 6 35803161 35803161 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003137.3 -1 reviewed p.L630V 1.000 98 0% 52 48.1% 43 46.5% benign(0.133) deleterious(0.02) neutral(0.394) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SRPK1 6732 genome.wustl.edu 37 6 35838242 35838242 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003137.3 -1 reviewed p.K269N 1.000 390 0% 257 10.5% 14 28.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLC26A8 116369 genome.wustl.edu 37 6 35911688 35911688 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052961.2 -1 reviewed p.E968* 0.000 163 0% 134 27.6% 0 - - - - NULL FGD2 221472 genome.wustl.edu 37 6 36979618 36979618 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173558.3 +1 validated p.R172H 1.000 131 0% 123 30.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) DNAH8 1769 genome.wustl.edu 37 6 38754599 38754599 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.F601 1.000 135 0% 86 31.4% 1 0% - - - HMMPfam_DHC_N1 DNAH8 1769 genome.wustl.edu 37 6 38810451 38810451 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.L1322 0.847 65 0% 29 34.5% 0 - - - - HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38810580 38810580 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.I1365 0.997 92 0% 30 33.3% 0 - - - - HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38820538 38820538 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.I1628 0.036 111 0% 42 28.6% 0 - - - - HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38840320 38840320 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.E2116D 1.000 99 0% 51 37.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38840349 38840349 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.T2126I 1.000 119 0.8% 56 21.4% 0 - benign(0.406) tolerated(0.44) neutral(0.143) PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38858447 38858447 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.Y2614* 1.000 308 0% 173 24.9% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38867624 38867624 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.L2829I 1.000 317 0% 149 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38877323 38877323 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.L2964F 1.000 171 0% 97 29.9% 0 - possibly_damaging(0.755) tolerated(0.15) deleterious(0.520) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38897407 38897407 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.E3530* 1.000 65 0% 41 46.3% 0 - - - - NULL DNAH8 1769 genome.wustl.edu 37 6 38941566 38941566 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001371.2 +1 validated p.R4002* 0.537 142 0% 112 24.1% 0 - - - - HMMPfam_Dynein_heavy KIF6 221458 genome.wustl.edu 37 6 39513448 39513448 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145027.4 -1 validated p.T400P 0.927 153 0% 137 32.1% 0 - benign(0.127) tolerated(0.26) neutral(0.045) NULL TSPO2 222642 genome.wustl.edu 37 6 41010852 41010852 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010873.2 +1 validated p.Y43C 0.357 166 0% 135 27.4% 1 0% possibly_damaging(0.927) deleterious(0.01) deleterious(0.780) HMMPfam_TspO_MBR TREM2 54209 genome.wustl.edu 37 6 41129248 41129248 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018965.2 -1 reviewed p.K48N 1.000 48 0% 49 40.8% 26 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-set,superfamily_Immunoglobulin TREML4 285852 genome.wustl.edu 37 6 41204301 41204301 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198153.2 +1 validated p.A195V 0.115 128 0% 190 34.7% 0 - unknown(0) tolerated(0.22) - NULL TREM1 54210 genome.wustl.edu 37 6 41248863 41248863 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018643.2 -1 provisional p.E145D 0.000 126 0% 91 24.2% 1 0% benign(0.092) tolerated(0.49) neutral(0.018) NULL TREM1 54210 genome.wustl.edu 37 6 41250134 41250134 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018643.2 -1 provisional p.K135N 0.037 64 0% 34 17.6% 4 0% benign(0.095) deleterious(0.02) neutral(0.390) NULL TFEB 7942 genome.wustl.edu 37 6 41658638 41658638 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007162.2 -1 validated p.E77D 1.000 40 0% 61 34.4% 12 0% possibly_damaging(0.791) deleterious(0.01) deleterious(0.702) NULL BYSL 705 genome.wustl.edu 37 6 41900101 41900101 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004053.3 +1 reviewed p.A324V 1.000 52 0% 39 33.3% 53 50.9% possibly_damaging(0.705) tolerated(0.18) neutral(0.310) HMMPfam_Bystin MRPS10 55173 genome.wustl.edu 37 6 42179541 42179541 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018141.3 -1 reviewed p.E101* 1.000 120 0% 117 29.1% 22 18.1% - - - HMMPfam_Ribosomal_S10,superfamily_Ribosomal protein S10 TRERF1 55809 genome.wustl.edu 37 6 42232560 42232560 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033502.2 -1 reviewed p.F506C 0.998 100 0% 218 27.5% 0 - probably_damaging(0.953) tolerated(0.05) deleterious(0.742) NULL UBR2 23304 genome.wustl.edu 37 6 42584982 42584982 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015255.2 +1 reviewed p.Y396C 1.000 184 0% 124 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBR2 23304 genome.wustl.edu 37 6 42585058 42585058 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015255.2 +1 reviewed p.F421L 1.000 122 0% 98 29.6% 1 0% benign(0) tolerated(1) - NULL CUL7 9820 genome.wustl.edu 37 6 43017747 43017747 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014780.4 -1 reviewed p.D508A 0.995 53 0% 74 24.3% 14 28.5% benign(0.244) deleterious(0.01) neutral(0.430) NULL CUL9 23113 genome.wustl.edu 37 6 43163924 43163924 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015089.2 +1 validated p.D836N 1.000 59 0% 72 27.8% 7 28.5% possibly_damaging(0.833) tolerated(0.12) deleterious(0.578) superfamily_ARM repeat CRIP3 401262 genome.wustl.edu 37 6 43274218 43274218 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206922.2 -1 validated p.S122 0.001 91 0% 141 31.2% 0 - - - - superfamily_SSF57716 ZNF318 24149 genome.wustl.edu 37 6 43306272 43306272 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014345.2 -1 validated p.E1822* 0.031 207 0% 160 31.9% 17 47% - - - NULL ZNF318 24149 genome.wustl.edu 37 6 43307083 43307083 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014345.2 -1 validated p.K1551N 1.000 57 0% 34 35.3% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF318 24149 genome.wustl.edu 37 6 43310499 43310499 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014345.2 -1 validated p.G1064D 1.000 180 0% 112 30.4% 5 80% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00451,superfamily_C2H2 and C2HC zinc fingers ZNF318 24149 genome.wustl.edu 37 6 43324955 43324955 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014345.2 -1 validated p.S366Y 1.000 183 0% 120 30.8% 14 14.2% probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL DLK2 65989 genome.wustl.edu 37 6 43418727 43418727 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000430324 -1 known p.S140L 0.876 36 0% 61 24.6% 2 50% - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin DLK2 65989 genome.wustl.edu 37 6 43420753 43420753 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023932.2 -1 validated p.F87L 1.000 28 0% 70 22.9% 0 - benign(0.088) tolerated(0.78) neutral(0.007) HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin TJAP1 93643 genome.wustl.edu 37 6 43473312 43473312 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080604.2 +1 reviewed p.E455K 0.008 40 0% 43 34.9% 30 50% benign(0.01) tolerated(0.74) neutral(0.002) NULL TMEM63B 55362 genome.wustl.edu 37 6 44114612 44114612 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018426.1 +1 validated p.E271K 1.000 56 0% 93 30.1% 55 36.3% benign(0.119) tolerated(0.08) neutral(0.309) NULL HSP90AB1 3326 genome.wustl.edu 37 6 44218174 44218174 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007355.2 +1 provisional p.K265N 1.000 107 0% 221 29.9% 821 35.9% benign(0.299) deleterious(0.02) deleterious(0.476) HMMPfam_HSP90 TCTE1 202500 genome.wustl.edu 37 6 44250280 44250280 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182539.3 -1 validated p.R288Q 0.644 114 0% 139 36% 1 100% possibly_damaging(0.723) tolerated(0.14) deleterious(0.512) superfamily_SSF52047 CDC5L 988 genome.wustl.edu 37 6 44371595 44371595 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001253.2 +1 reviewed p.E197* 1.000 69 0% 53 26.4% 4 0% - - - NULL CDC5L 988 genome.wustl.edu 37 6 44413445 44413445 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001253.2 +1 reviewed p.K715N 1.000 114 0% 35 42.9% 29 75.8% benign(0.036) deleterious(0.01) neutral(0.408) NULL CDC5L 988 genome.wustl.edu 37 6 44414387 44414387 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001253.2 +1 reviewed p.E783G 1.000 167 0% 63 38.1% 23 78.2% benign(0.082) tolerated(0.13) neutral(0.259) NULL SUPT3H 8464 genome.wustl.edu 37 6 44921050 44921050 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181356.1 -1 provisional p.A277 1.000 121 0% 143 23.8% 20 45% - - - NULL TDRD6 221400 genome.wustl.edu 37 6 46658613 46658613 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010870.2 +1 validated p.K916N 0.000 50 0% 76 31.6% 0 - benign(0) tolerated(0.67) neutral(0.003) NULL PLA2G7 7941 genome.wustl.edu 37 6 46690530 46690530 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005084.3 -1 reviewed p.M33I 0.000 89 1.1% 73 24.7% 5 0% benign(0) tolerated(1) - NULL GPR116 221395 genome.wustl.edu 37 6 46827148 46827148 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098518.1 -1 validated p.R831I 0.084 59 0% 56 23.2% 6 0% probably_damaging(0.986) tolerated(0.08) deleterious(0.734) NULL GPR116 221395 genome.wustl.edu 37 6 46874461 46874461 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098518.1 -1 validated p.F13L 0.000 200 0% 101 28.7% 2 0% benign(0) tolerated(1) - NULL GPR110 266977 genome.wustl.edu 37 6 46977607 46977607 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153840.2 -1 validated p.F522V 0.975 95 0% 27 22.2% 0 - benign(0.235) deleterious(0) neutral(0.468) NULL GPR110 266977 genome.wustl.edu 37 6 46993631 46993631 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153840.2 -1 validated p.S79* 0.000 145 0% 78 26.9% 0 - - - - NULL CD2AP 23607 genome.wustl.edu 37 6 47567068 47567068 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012120.2 +1 reviewed p.K436Q 1.000 69 0% 49 24.5% 24 45.8% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL GPR111 222611 genome.wustl.edu 37 6 47649422 47649422 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153839.6 +1 validated p.R308I 0.001 103 0% 45 35.6% 0 - possibly_damaging(0.749) deleterious(0.03) deleterious(0.639) NULL GPR115 221393 genome.wustl.edu 37 6 47678474 47678474 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153838.3 +1 validated p.K51I 0.998 93 0% 42 28.6% 0 - benign(0.001) tolerated(0.53) neutral(0.007) NULL PTCHD4 442213 genome.wustl.edu 37 6 47846815 47846815 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013732.3 -1 validated p.R572* 0.998 93 0% 55 25.5% 0 - - - - HMMPfam_Patched PTCHD4 442213 genome.wustl.edu 37 6 47846936 47846936 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013732.3 -1 validated p.V531 1.000 90 0% 45 17.8% 0 - - - - HMMPfam_Patched PTCHD4 442213 genome.wustl.edu 37 6 47847482 47847482 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013732.3 -1 validated p.V349 1.000 92 0% 45 15.6% 0 - - - - HMMPfam_Patched,superfamily_SSF82866 PTCHD4 442213 genome.wustl.edu 37 6 47976620 47976620 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000398738 -1 known p.L219I 1.000 95 0% 38 34.2% 0 - - - - NULL CENPQ 55166 genome.wustl.edu 37 6 49459913 49459913 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018132.3 +1 validated p.I244 0.954 159 0% 123 34.1% 4 25% - - - NULL GLYATL3 389396 genome.wustl.edu 37 6 49494561 49494561 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010904.1 +1 validated p.F267L 0.999 65 0% 32 34.4% 3 66.6% benign(0.002) tolerated(0.69) neutral(0.002) HMMPfam_Gly_acyl_tr_C CRISP2 7180 genome.wustl.edu 37 6 49666126 49666126 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142407.1 -1 validated p.V122 0.005 98 0% 67 35.8% 0 - - - - HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like CRISP1 167 genome.wustl.edu 37 6 49803147 49803147 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001131.2 -1 reviewed p.C211Y 0.312 184 0% 151 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Crisp TFAP2B 7021 genome.wustl.edu 37 6 50786658 50786658 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003221.3 +1 reviewed p.E18D 1.000 76 0% 179 25.1% 0 - benign(0.029) tolerated(1) neutral(0.002) NULL TFAP2B 7021 genome.wustl.edu 37 6 50807910 50807910 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003221.3 +1 reviewed p.E328K 1.000 80 0% 154 26% 11 81.8% possibly_damaging(0.945) deleterious(0.03) deleterious(0.754) HMMPfam_TF_AP-2 PKHD1 5314 genome.wustl.edu 37 6 51491798 51491798 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138694.3 -1 reviewed p.E3928K 0.996 411 0% 153 34.6% 5 80% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL PKHD1 5314 genome.wustl.edu 37 6 51491906 51491906 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138694.3 -1 reviewed p.P3892S 0.967 452 0% 164 29.3% 1 100% benign(0) tolerated(0.52) neutral(0.009) NULL PKHD1 5314 genome.wustl.edu 37 6 51524180 51524180 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138694.3 -1 reviewed p.E3582K 0.833 99 0% 37 27% 0 - possibly_damaging(0.442) tolerated(0.45) neutral(0.157) NULL PKHD1 5314 genome.wustl.edu 37 6 51619636 51619636 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138694.3 -1 reviewed p.E2915* 1.000 162 0% 78 33.3% 1 0% - - - NULL MCM3 4172 genome.wustl.edu 37 6 52129513 52129513 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002388.3 -1 reviewed p.R767H 0.444 72 0% 65 24.6% 242 39.2% benign(0.004) tolerated(0.15) neutral(0.241) NULL MCM3 4172 genome.wustl.edu 37 6 52131451 52131451 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002388.3 -1 reviewed p.D706N 1.000 120 0% 74 27% 240 39.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TRAM2 9697 genome.wustl.edu 37 6 52368064 52368064 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012288.3 -1 reviewed p.Y348 1.000 180 0% 169 26.6% 9 11.1% - - - NULL GCLC 2729 genome.wustl.edu 37 6 53373430 53373430 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001498.2 -1 reviewed p.S303Y 1.000 101 0% 102 36.3% 50 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCS,superfamily_Glutamine synthetase/guanido kinase GCLC 2729 genome.wustl.edu 37 6 53409386 53409386 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001498.2 -1 reviewed p.D20N 1.000 40 0% 52 36.5% 40 27.5% benign(0.01) tolerated(0.13) neutral(0.253) NULL FAM83B 222584 genome.wustl.edu 37 6 54792313 54792313 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010872.1 +1 validated p.R206Q 1.000 116 0% 39 25.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1669,superfamily_SSF56024 FAM83B 222584 genome.wustl.edu 37 6 54806653 54806653 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010872.1 +1 validated p.E962* 1.000 85 0% 44 31.8% 0 - - - - NULL HCRTR2 3062 genome.wustl.edu 37 6 55145214 55145214 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001526.3 +1 reviewed p.A359 0.989 302 0% 165 20% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 BMP5 653 genome.wustl.edu 37 6 55739539 55739539 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021073.2 -1 reviewed p.R42I 1.000 139 0% 54 31.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGFb_propeptide DST 667 genome.wustl.edu 37 6 56371291 56371291 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015548.4 -1 reviewed p.K3849E 0.948 167 0% 52 28.8% 180 45% benign(0.023) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56417403 56417403 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015548.4 -1 reviewed p.S2773Y 1.000 105 0% 53 28.3% 0 - probably_damaging(0.998) - - HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56438544 56438544 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015548.4 -1 reviewed p.S1767Y 0.997 129 0% 111 26.1% 1 100% probably_damaging(0.991) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56468781 56468781 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000370769 -1 known p.E3338* 0.012 163 0% 62 27.4% 0 - - - - NULL DST 667 genome.wustl.edu 37 6 56473288 56473288 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000370769 -1 known p.D1835 1.000 97 0% 49 12.2% 0 - - - - HMMSmart_SM00250,superfamily_Plakin repeat DST 667 genome.wustl.edu 37 6 56479176 56479176 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015548.4 -1 reviewed p.K1142T 0.997 334 0% 201 27.9% 0 - benign(0.389) deleterious(0) deleterious(0.569) superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56484068 56484068 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001723.5 -1 reviewed p.L1588 0.000 189 0% 154 26% 0 - - - - NULL DST 667 genome.wustl.edu 37 6 56504319 56504319 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015548.4 -1 reviewed p.E393* 1.000 127 0% 101 26.7% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56564534 56564534 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000370769 -1 known p.V111M 1.000 154 0% 90 16.7% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain DST 667 genome.wustl.edu 37 6 56819310 56819310 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000281662 -1 known p.A32V 1.000 31 0% 70 31.4% 1 0% - - - NULL KIAA1586 57691 genome.wustl.edu 37 6 56918608 56918608 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020931.2 +1 validated p.I437M 1.000 50 0% 43 41.9% 0 - benign(0.008) deleterious(0.01) neutral(0.406) NULL KIAA1586 57691 genome.wustl.edu 37 6 56919661 56919661 + Nonstop_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020931.2 +1 validated p.*788Y 0.000 57 0% 65 38.5% 4 25% - - - NULL RAB23 51715 genome.wustl.edu 37 6 57072498 57072498 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016277.3 -1 reviewed p.D57N 1.000 202 0% 110 31.8% 14 28.5% benign(0.31) deleterious(0.03) neutral(0.461) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RAB23 51715 genome.wustl.edu 37 6 57075154 57075154 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016277.3 -1 reviewed p.A9T 1.000 266 0% 176 23.3% 30 30% benign(0.117) tolerated(0.09) neutral(0.306) superfamily_P-loop containing nucleoside triphosphate hydrolases LGSN 51557 genome.wustl.edu 37 6 63995556 63995556 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016571.2 -1 reviewed p.R89Q 1.000 163 0% 124 25.8% 1 0% possibly_damaging(0.918) tolerated(0.23) neutral(0.410) superfamily_Glutamine synthetase N-terminal domain LGSN 51557 genome.wustl.edu 37 6 64004910 64004910 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016571.2 -1 reviewed p.S24I 0.060 302 0% 157 34.4% 0 - benign(0.202) tolerated(0.06) neutral(0.342) NULL PHF3 23469 genome.wustl.edu 37 6 64394511 64394511 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015153.2 +1 provisional p.Q296H 0.003 107 0% 162 34.6% 5 80% benign(0) deleterious(0.04) neutral(0.349) NULL PHF3 23469 genome.wustl.edu 37 6 64395141 64395141 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015153.2 +1 provisional p.P506 0.000 37 0% 45 26.7% 10 60% - - - NULL PHF3 23469 genome.wustl.edu 37 6 64423420 64423420 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015153.2 +1 provisional p.R1979Q 0.982 117 0% 133 30.1% 81 34.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EYS 346007 genome.wustl.edu 37 6 65300795 65300796 + Frame_Shift_Ins INS - - A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142800.1 -1 reviewed p.L1655fs 1.000:1.000 - - - - - - - - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 65301248 65301248 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142800.1 -1 reviewed p.Q1504 1.000 63 0% 40 10% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 65622593 65622593 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142800.1 -1 reviewed p.E809* 1.000 124 0% 78 23.1% 0 - - - - HMMSmart_SM00179,superfamily_EGF/Laminin EYS 346007 genome.wustl.edu 37 6 65767606 65767606 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142800.1 -1 reviewed p.I680V 0.925 160 0% 55 34.5% 0 - unknown(0) - - superfamily_EGF/Laminin EYS 346007 genome.wustl.edu 37 6 66044988 66044988 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142800.1 -1 reviewed p.R551W 0.000 200 0.5% 70 32.9% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL EYS 346007 genome.wustl.edu 37 6 66112384 66112384 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142800.1 -1 reviewed p.D391Y 0.000 71 0% 21 19% 0 - possibly_damaging(0.922) deleterious(0.04) deleterious(0.720) HMMSmart_SM00181,superfamily_EGF/Laminin BAI3 577 genome.wustl.edu 37 6 69348887 69348887 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001704.2 +1 reviewed p.S107Y 1.000 66 0% 106 31.1% 0 - probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL BAI3 577 genome.wustl.edu 37 6 69653764 69653764 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001704.2 +1 reviewed p.S358* 1.000 159 0% 114 36.8% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat BAI3 577 genome.wustl.edu 37 6 69703748 69703748 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001704.2 +1 reviewed p.R608I 1.000 153 0% 80 26.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL LMBRD1 55788 genome.wustl.edu 37 6 70410688 70410688 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018368.3 -1 reviewed p.R386Q 1.000 73 1.4% 40 45% 26 42.3% unknown(0) deleterious(0.05) - HMMPfam_LMBR1 COL19A1 1310 genome.wustl.edu 37 6 70637859 70637859 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001858.4 +1 reviewed p.R109* 0.539 166 0.6% 60 35% 0 - - - - HMMSmart_TSPN,superfamily_ConA_like_lec_gl COL19A1 1310 genome.wustl.edu 37 6 70646744 70646744 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001858.4 +1 reviewed p.S272Y 0.006 127 0% 50 12% 0 - unknown(0) tolerated(0.2) - NULL COL9A1 1297 genome.wustl.edu 37 6 70993472 70993472 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001851.4 -1 reviewed p.E250* 1.000 113 0% 227 26.9% 1 0% - - - superfamily_ConA_like_lec_gl COL9A1 1297 genome.wustl.edu 37 6 71004213 71004213 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001851.4 -1 reviewed p.R118Q 1.000 117 0% 67 32.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_TSPN,superfamily_ConA_like_lec_gl COL9A1 1297 genome.wustl.edu 37 6 71009839 71009839 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001851.4 -1 reviewed p.A69V 1.000 87 0% 71 32.4% 0 - possibly_damaging(0.623) tolerated(0.91) neutral(0.217) HMMSmart_TSPN FAM135A 57579 genome.wustl.edu 37 6 71234488 71234488 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000418814 +1 known p.Q567H 1.000 50 0% 22 22.7% 0 - benign(0.092) deleterious(0.01) neutral(0.413) NULL FAM135A 57579 genome.wustl.edu 37 6 71236057 71236057 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105531.2 +1 validated p.Q894H 1.000 99 0% 91 29.7% 5 0% possibly_damaging(0.942) tolerated(0.11) deleterious(0.659) NULL FAM135A 57579 genome.wustl.edu 37 6 71269595 71269595 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105531.2 +1 validated p.L1311M 1.000 157 0% 131 29.8% 7 14.2% possibly_damaging(0.898) deleterious(0.03) deleterious(0.719) NULL OGFRL1 79627 genome.wustl.edu 37 6 72006441 72006441 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024576.3 +1 validated p.F205I 1.000 125 0% 97 14.4% 12 16.6% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_OGFr_N RIMS1 22999 genome.wustl.edu 37 6 72889303 72889303 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014989.4 +1 reviewed p.R166Q 1.000 43 0% 66 16.7% 0 - possibly_damaging(0.855) tolerated(0.09) deleterious(0.627) superfamily_FYVE/PHD zinc finger RIMS1 22999 genome.wustl.edu 37 6 72889314 72889314 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014989.4 +1 reviewed p.E170K 1.000 46 0% 66 28.8% 0 - possibly_damaging(0.615) deleterious(0) deleterious(0.658) superfamily_FYVE/PHD zinc finger RIMS1 22999 genome.wustl.edu 37 6 72892167 72892167 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014989.4 +1 reviewed p.P331 0.012 36 0% 58 31% 0 - - - - NULL RIMS1 22999 genome.wustl.edu 37 6 72960160 72960160 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014989.4 +1 reviewed p.R790I 1.000 77 0% 29 27.6% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RIMS1 22999 genome.wustl.edu 37 6 72960715 72960715 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014989.4 +1 reviewed p.D822Y 1.000 203 0% 74 20.3% 0 - possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RIMS1 22999 genome.wustl.edu 37 6 72967974 72967974 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014989.4 +1 reviewed p.P973S 1.000 54 0% 19 26.3% 0 - possibly_damaging(0.854) deleterious(0.02) deleterious(0.712) NULL DPPA5 340168 genome.wustl.edu 37 6 74063740 74063740 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001025290.1 -1 provisional p.R43Q 0.508 38 0% 68 33.8% 0 - benign(0.122) tolerated(0.11) neutral(0.282) superfamily_SSF54791 DDX43 55510 genome.wustl.edu 37 6 74107414 74107414 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018665.2 +1 reviewed p.R85C 1.000 104 0% 176 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 DDX43 55510 genome.wustl.edu 37 6 74115412 74115412 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018665.2 +1 reviewed p.F221V 1.000 139 0% 216 32.4% 0 - benign(0.34) - - superfamily_SSF52540 CD109 135228 genome.wustl.edu 37 6 74440163 74440163 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133493.3 +1 reviewed p.E125* 1.000 121 0% 87 28.7% 4 25% - - - HMMPfam_A2M_N CD109 135228 genome.wustl.edu 37 6 74472508 74472508 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133493.3 +1 reviewed p.K300N 0.985 202 0% 163 34.4% 0 - benign(0.221) tolerated(0.06) neutral(0.345) NULL CD109 135228 genome.wustl.edu 37 6 74502473 74502473 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133493.3 +1 reviewed p.K942N 0.116 110 0% 57 24.6% 2 100% benign(0.124) tolerated(0.15) neutral(0.251) superfamily_Terpenoid cyclases/Protein prenyltransferases FILIP1 27145 genome.wustl.edu 37 6 76024467 76024467 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015687.2 -1 validated p.E361* 1.000 264 0% 212 32.5% 6 83.3% - - - HMMPfam_CortBP2 SENP6 26054 genome.wustl.edu 37 6 76419278 76419278 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015571.2 +1 validated p.E918* 0.988 122 0% 81 27.2% 39 38.4% - - - HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases SENP6 26054 genome.wustl.edu 37 6 76423432 76423432 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015571.2 +1 validated p.R1007I 1.000 161 0% 92 34.8% 15 26.6% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases MYO6 4646 genome.wustl.edu 37 6 76538280 76538280 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004999.3 +1 reviewed p.A71S 1.000 153 0% 110 35.5% 11 36.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TTK 7272 genome.wustl.edu 37 6 80744725 80744725 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003318.4 +1 reviewed p.K546N 1.000 91 0% 19 42.1% 8 50% benign(0) tolerated(0.16) neutral(0.059) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase IBTK 25998 genome.wustl.edu 37 6 82924423 82924423 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015525.2 -1 reviewed p.F575 0.998 67 0% 51 39.2% 5 60% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB IBTK 25998 genome.wustl.edu 37 6 82943942 82943942 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015525.2 -1 reviewed p.E118* 1.000 106 0% 103 24.3% 2 0% - - - superfamily_Ankyrin repeat TPBG 7162 genome.wustl.edu 37 6 83075528 83075528 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006670.4 +1 reviewed p.L284I 0.986 47 0% 111 14.4% 20 0% possibly_damaging(0.696) tolerated(0.15) deleterious(0.490) superfamily_L domain-like UBE3D 90025 genome.wustl.edu 37 6 83728755 83728755 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198920.1 -1 provisional p.S316Y 0.067 197 0% 58 34.5% 5 20% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_DUF2351 RWDD2A 112611 genome.wustl.edu 37 6 83905938 83905938 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033411.3 +1 validated p.E276* 1.000 50 0% 76 30.3% 5 80% - - - HMMPfam_DUF1115 SNAP91 9892 genome.wustl.edu 37 6 84303223 84303223 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014841.2 -1 validated p.A557D 1.000 102 0% 145 33.1% 1 100% possibly_damaging(0.768) deleterious(0.02) deleterious(0.668) NULL SNAP91 9892 genome.wustl.edu 37 6 84311154 84311154 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014841.2 -1 validated p.S387Y 0.997 187 0% 141 34.8% 0 - benign(0.053) deleterious(0.02) neutral(0.387) NULL SNAP91 9892 genome.wustl.edu 37 6 84372116 84372116 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014841.2 -1 validated p.R100I 1.000 86 0% 46 41.3% 0 - possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273 SNAP91 9892 genome.wustl.edu 37 6 84375170 84375170 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014841.2 -1 validated p.V87 0.991 138 0% 84 33.3% 0 - - - - superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273 KIAA1009 22832 genome.wustl.edu 37 6 84859377 84859377 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014895.2 -1 validated p.S1225 0.996 210 0% 53 35.8% 9 77.7% - - - NULL KIAA1009 22832 genome.wustl.edu 37 6 84862665 84862665 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014895.2 -1 validated p.F1076 0.765 263 0% 201 34.3% 10 70% - - - NULL KIAA1009 22832 genome.wustl.edu 37 6 84925056 84925056 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014895.2 -1 validated p.S149 0.927 227 0.4% 111 26.1% 4 25% - - - NULL KIAA1009 22832 genome.wustl.edu 37 6 84930790 84930790 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014895.2 -1 validated p.D53Y 1.000 364 0% 166 28.3% 3 33.3% probably_damaging(0.984) deleterious(0.02) deleterious(0.814) NULL NT5E 4907 genome.wustl.edu 37 6 86176976 86176976 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002526.2 +1 validated p.E180* 1.000 243 0% 94 30.9% 11 27.2% - - - HMMPfam_Metallophos,superfamily_SSF56300 SNX14 57231 genome.wustl.edu 37 6 86227560 86227560 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153816.3 -1 reviewed p.F728V 1.000 313 0% 205 30.2% 34 38.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SNX14 57231 genome.wustl.edu 37 6 86227751 86227751 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153816.3 -1 reviewed p.S708Y 1.000 154 0% 105 27.6% 13 46.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZNF292 23036 genome.wustl.edu 37 6 87943133 87943133 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015021.1 +1 validated p.A210V 1.000 134 0% 149 40.3% 1 0% benign(0) tolerated(0.07) neutral(0.319) NULL ZNF292 23036 genome.wustl.edu 37 6 87966270 87966270 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015021.1 +1 validated p.E975* 0.016 59 0% 34 26.5% 15 46.6% - - - NULL RARS2 57038 genome.wustl.edu 37 6 88234361 88234361 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020320.3 -1 reviewed p.T296 0.875 79 0% 63 28.6% 44 34% - - - HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase ORC3 23595 genome.wustl.edu 37 6 88331150 88331150 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181837.1 +1 reviewed p.N356H 0.984 157 0% 110 36.4% 10 50% benign(0) tolerated(0.06) neutral(0.323) NULL SPACA1 81833 genome.wustl.edu 37 6 88763687 88763687 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030960.2 +1 reviewed p.E78* 1.000 115 0% 199 27.1% 0 - - - - NULL CNR1 1268 genome.wustl.edu 37 6 88854721 88854721 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016083.4 -1 reviewed p.E91D 0.819 81 0% 75 37.3% 0 - - - - NULL SRSF12 135295 genome.wustl.edu 37 6 89815233 89815233 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080743.4 -1 validated p.D63Y 1.000 152 0% 102 29.4% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 SRSF12 135295 genome.wustl.edu 37 6 89816949 89816949 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080743.4 -1 validated p.R32* 1.000 174 0% 142 35.2% 1 0% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 GABRR1 2569 genome.wustl.edu 37 6 89890095 89890095 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002042.3 -1 reviewed p.F354 0.998 117 0% 51 27.5% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore RRAGD 58528 genome.wustl.edu 37 6 90077848 90077848 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021244.4 -1 validated p.S377Y 0.410 252 0% 148 41.2% 7 28.5% benign(0.257) deleterious(0.01) neutral(0.432) NULL RRAGD 58528 genome.wustl.edu 37 6 90089928 90089928 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021244.4 -1 validated p.N201 0.629 239 0.4% 142 33.8% 7 14.2% - - - HMMPfam_Gtr1_RagA,superfamily_P-loop containing nucleoside triphosphate hydrolases MDN1 23195 genome.wustl.edu 37 6 90393038 90393038 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014611.1 -1 provisional p.K3972T 1.000 76 0% 35 51.4% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MDN1 23195 genome.wustl.edu 37 6 90466102 90466102 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014611.1 -1 provisional p.E904* 1.000 223 0% 100 27% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases MDN1 23195 genome.wustl.edu 37 6 90468641 90468641 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014611.1 -1 provisional p.I833 1.000 159 0% 106 26.4% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases GJA10 84694 genome.wustl.edu 37 6 90604304 90604304 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032602.1 +1 validated p.V39 0.979 125 0% 117 28.2% 0 - - - - HMMPfam_Connexin MAP3K7 6885 genome.wustl.edu 37 6 91261841 91261841 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145331.1 -1 reviewed p.R265H 1.000 242 0% 179 31.8% 18 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FUT9 10690 genome.wustl.edu 37 6 96651434 96651434 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006581.3 +1 validated p.N135H 1.000 100 0% 27 18.5% 0 - possibly_damaging(0.937) tolerated(0.39) neutral(0.399) HMMPfam_Glyco_transf_10 FHL5 9457 genome.wustl.edu 37 6 97063606 97063606 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020482.4 +1 reviewed p.I271 1.000 116 0% 80 41.2% 1 0% - - - HMMPfam_LIM,HMMSmart_LIM FBXL4 26235 genome.wustl.edu 37 6 99323521 99323521 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012160.3 -1 reviewed p.N491T 1.000 41 0% 14 28.6% 15 40% benign(0.013) tolerated(0.98) neutral(0.001) HMMSmart_LRR_CC,superfamily_SSF52047 PNISR 25957 genome.wustl.edu 37 6 99849021 99849021 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015491.1 -1 validated p.E605* 1.000 172 0% 163 29.4% 57 47.3% - - - NULL PNISR 25957 genome.wustl.edu 37 6 99852519 99852519 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015491.1 -1 validated p.I354M 1.000 234 0% 164 31.1% 78 61.5% benign(0.278) tolerated(0.19) neutral(0.080) NULL USP45 85015 genome.wustl.edu 37 6 99883615 99883615 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080481.1 -1 provisional p.L808I 1.000 120 0% 75 16% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases USP45 85015 genome.wustl.edu 37 6 99936593 99936593 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080481.1 -1 provisional p.N194K 1.000 134 0% 160 12.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_Cysteine proteinases MCHR2 84539 genome.wustl.edu 37 6 100368969 100368969 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040179.1 -1 validated p.L290 1.000 187 0% 97 41.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MCHR2 84539 genome.wustl.edu 37 6 100390853 100390853 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040179.1 -1 validated p.D187N 1.000 90 0% 45 17.8% 0 - benign(0.014) tolerated(0.49) neutral(0.011) HMMPfam_7tm_1,superfamily_SSF81321 ASCC3 10973 genome.wustl.edu 37 6 101053536 101053536 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006828.2 -1 validated p.F1695 1.000 40 0% 15 46.7% 18 50% - - - superfamily_SSF52540 ASCC3 10973 genome.wustl.edu 37 6 101075555 101075555 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006828.2 -1 validated p.R1518H 1.000 88 0% 45 8.9% 23 13% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_DEXDc,superfamily_SSF52540 ASCC3 10973 genome.wustl.edu 37 6 101095148 101095148 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006828.2 -1 validated p.K1144N 1.000 233 0% 153 29.4% 10 50% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Sec63,HMMSmart_SEC63 ASCC3 10973 genome.wustl.edu 37 6 101296418 101296418 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006828.2 -1 validated p.R136Q 0.997 93 0% 18 22.2% 7 14.2% benign(0.07) tolerated(0.65) neutral(0.008) NULL ASCC3 10973 genome.wustl.edu 37 6 101296563 101296563 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006828.2 -1 validated p.E88* 1.000 82 0% 47 12.8% 2 0% - - - NULL GRIK2 2898 genome.wustl.edu 37 6 102516355 102516355 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021956.4 +1 reviewed p.R899I 1.000 111 0% 40 32.5% 6 66.6% probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL HACE1 57531 genome.wustl.edu 37 6 105232346 105232346 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020771.3 -1 validated p.R475H 1.000 56 0% 29 24.1% 8 50% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ATG5 9474 genome.wustl.edu 37 6 106740903 106740903 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004849.2 -1 validated p.K105N 1.000 104 0% 62 30.6% 23 0% benign(0.007) tolerated(0.41) neutral(0.015) HMMPfam_APG5 ATG5 9474 genome.wustl.edu 37 6 106756278 106756278 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004849.2 -1 validated p.S66N 1.000 279 0% 136 26.5% 31 19.3% benign(0) tolerated(0.5) neutral(0.010) NULL AIM1 202 genome.wustl.edu 37 6 107006385 107006385 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001624.2 +1 validated p.L1506I 1.000 93 0% 48 18.8% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF AIM1 202 genome.wustl.edu 37 6 107008712 107008712 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001624.2 +1 validated p.R1556* 0.273 159 0% 99 27.3% 5 0% - - - HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF SOBP 55084 genome.wustl.edu 37 6 107908317 107908317 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018013.3 +1 validated p.P203S 1.000 89 0% 37 27% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SOBP 55084 genome.wustl.edu 37 6 107954828 107954828 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018013.3 +1 validated p.M260I 1.000 83 0% 150 33.3% 4 0% possibly_damaging(0.95) deleterious(0) deleterious(0.838) NULL NR2E1 7101 genome.wustl.edu 37 6 108496096 108496096 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003269.3 +1 validated p.K76N 1.000 81 0% 174 30.5% 0 - benign(0.287) deleterious(0) deleterious(0.533) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ARMC2 84071 genome.wustl.edu 37 6 109232151 109232151 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032131.4 +1 validated p.K358T 1.000 106 0% 74 10.8% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_ARM-type_fold ARMC2 84071 genome.wustl.edu 37 6 109233677 109233677 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032131.4 +1 validated p.I422M 0.813 137 0% 63 34.9% 0 - benign(0.055) tolerated(0.25) neutral(0.041) superfamily_ARM-type_fold ARMC2 84071 genome.wustl.edu 37 6 109286284 109286284 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032131.4 +1 validated p.S796L 0.064 154 0% 94 25.5% 2 50% benign(0.086) tolerated(0.72) neutral(0.008) superfamily_ARM-type_fold SESN1 27244 genome.wustl.edu 37 6 109309749 109309749 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014454.1 -1 provisional p.E522D 1.000 93 0% 36 27.8% 6 0% probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMPfam_PA26 SESN1 27244 genome.wustl.edu 37 6 109315802 109315802 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014454.1 -1 provisional p.S328F 1.000 138 0% 89 28.1% 9 33.3% benign(0.196) deleterious(0.01) neutral(0.424) HMMPfam_PA26 CEP57L1 285753 genome.wustl.edu 37 6 109471401 109471401 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083535.1 +1 validated p.L141I 0.999 96 0% 57 28.1% 6 50% possibly_damaging(0.736) tolerated(0.08) deleterious(0.569) HMMPfam_DUF1167 SMPD2 6610 genome.wustl.edu 37 6 109764897 109764897 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003080.2 +1 validated p.A354V 0.000 156 0% 231 28.6% 11 36.3% probably_damaging(0.998) tolerated(0.28) deleterious(0.506) NULL ZBTB24 9841 genome.wustl.edu 37 6 109796613 109796613 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014797.2 -1 validated p.R426Q 0.991 197 0% 214 32.7% 7 42.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers AKD1 221264 genome.wustl.edu 37 6 109835528 109835528 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000424296 -1 known p.F472C 1.000 303 0% 145 26.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKD1 221264 genome.wustl.edu 37 6 109894787 109894787 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145128.2 -1 provisional p.E734D 0.000 141 0% 76 26.3% 1 0% possibly_damaging(0.819) tolerated(0.09) deleterious(0.606) superfamily_P-loop containing nucleoside triphosphate hydrolases AKD1 221264 genome.wustl.edu 37 6 109931708 109931708 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145128.2 -1 provisional p.E568K 0.023 207 0% 79 29.1% 0 - benign(0.081) deleterious(0) neutral(0.451) superfamily_P-loop containing nucleoside triphosphate hydrolases AKD1 221264 genome.wustl.edu 37 6 109933288 109933288 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145128.2 -1 provisional p.E540* 0.567 138 0% 67 34.3% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases FIG4 9896 genome.wustl.edu 37 6 110113853 110113853 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014845.5 +1 reviewed p.F815L 0.997 93 0% 123 26% 31 35.4% benign(0) tolerated(1) - NULL SLC16A10 117247 genome.wustl.edu 37 6 111527807 111527807 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018593.4 +1 validated p.N319H 1.000 193 0% 95 31.6% 0 - benign(0) deleterious(0.04) neutral(0.349) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter REV3L 5980 genome.wustl.edu 37 6 111697097 111697097 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002912.3 -1 validated p.L821V 0.997 170 0% 87 33.3% 4 75% benign(0.003) tolerated(0.33) neutral(0.024) superfamily_Ribonuclease H-like FYN 2534 genome.wustl.edu 37 6 112021364 112021364 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002037.3 -1 reviewed p.E269* 1.000 149 0% 112 39.3% 8 25% - - - superfamily_Protein kinase-like (PK-like),superfamily_SH2 domain WISP3 8838 genome.wustl.edu 37 6 112386096 112386096 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198239.1 +1 reviewed p.G180D 0.000 160 0% 81 9.9% 0 - benign(0) tolerated(0.13) neutral(0.253) NULL TUBE1 51175 genome.wustl.edu 37 6 112400827 112400827 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000368657 -1 known p.F153V 0.000 116 0% 107 24.3% 0 - unknown(0) - - NULL TUBE1 51175 genome.wustl.edu 37 6 112400936 112400936 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016262.4 -1 reviewed p.F116 1.000 106 0.9% 101 26.7% 6 16.6% - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like LAMA4 3910 genome.wustl.edu 37 6 112493969 112493969 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105206.1 -1 reviewed p.N465 0.967 57 0% 31 25.8% 4 0% - - - HMMPfam_Laminin_I FRK 2444 genome.wustl.edu 37 6 116264183 116264183 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002031.2 -1 reviewed p.G436S 1.000 101 0% 35 40% 3 66.6% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like COL10A1 1300 genome.wustl.edu 37 6 116442821 116442821 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000493.3 -1 reviewed p.S153Y 0.967 98 0% 31 45.2% 0 - unknown(0) deleterious(0.04) - NULL DSE 29940 genome.wustl.edu 37 6 116752174 116752174 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080976.1 +1 reviewed p.S243Y 1.000 151 0% 148 30.4% 8 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL DSE 29940 genome.wustl.edu 37 6 116754709 116754709 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080976.1 +1 reviewed p.L372I 1.000 66 0% 58 36.2% 3 0% benign(0.001) tolerated(0.39) neutral(0.016) NULL DSE 29940 genome.wustl.edu 37 6 116757876 116757876 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080976.1 +1 reviewed p.F749V 1.000 61 0% 27 29.6% 15 6.6% benign(0) tolerated(0.42) neutral(0.014) NULL FAM26F 441168 genome.wustl.edu 37 6 116784863 116784863 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010919.1 +1 predicted p.L315 0.000 72 0% 115 36.5% 10 0% - - - NULL RSPH4A 345895 genome.wustl.edu 37 6 116943930 116943930 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010892.2 +1 reviewed e2-1 1.000 55 0% 30 33.3% 0 - - - - - ZUFSP 221302 genome.wustl.edu 37 6 116967088 116967088 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145062.2 -1 validated p.R493Q 1.000 258 0% 119 35.3% 11 54.5% probably_damaging(0.996) tolerated(0.16) deleterious(0.521) HMMPfam_Peptidase_C78 ZUFSP 221302 genome.wustl.edu 37 6 116988082 116988082 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145062.2 -1 validated p.L92I 0.192 268 0% 235 35.3% 6 66.6% benign(0.173) tolerated(0.41) neutral(0.031) NULL GPRC6A 222545 genome.wustl.edu 37 6 117113716 117113716 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_148963.2 -1 validated p.I790M 0.996 99 0% 28 25% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_3 GPRC6A 222545 genome.wustl.edu 37 6 117130776 117130776 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_148963.2 -1 validated p.E67* 1.000 91 0% 55 36.4% 0 - - - - superfamily_Periplasmic binding protein-like I GPRC6A 222545 genome.wustl.edu 37 6 117150119 117150119 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_148963.2 -1 validated p.P20S 0.768 151 0% 66 22.7% 0 - benign(0.001) tolerated(0.57) neutral(0.006) NULL RFX6 222546 genome.wustl.edu 37 6 117248341 117248341 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173560.2 +1 validated p.S679 0.137 158 0% 83 27.7% 0 - - - - NULL RFX6 222546 genome.wustl.edu 37 6 117248402 117248402 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173560.2 +1 validated p.S700R 0.041 119 0% 95 33.7% 0 - possibly_damaging(0.516) deleterious(0.02) deleterious(0.556) NULL ROS1 6098 genome.wustl.edu 37 6 117609784 117609784 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002944.2 -1 reviewed p.E2305 1.000 184 0% 79 26.6% 0 - - - - NULL ROS1 6098 genome.wustl.edu 37 6 117642533 117642533 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002944.2 -1 reviewed p.Q1889P 0.045 158 0% 54 24.1% 0 - benign(0.069) deleterious(0.05) neutral(0.350) NULL ROS1 6098 genome.wustl.edu 37 6 117647493 117647493 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002944.2 -1 reviewed p.W1817* 1.000 186 0% 134 14.2% 0 - - - - HMMSmart_FN3,superfamily_FN_III-like ROS1 6098 genome.wustl.edu 37 6 117700232 117700232 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002944.2 -1 reviewed p.R863W 1.000 80 0% 111 26.1% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_SSF63825 ROS1 6098 genome.wustl.edu 37 6 117725528 117725528 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002944.2 -1 reviewed p.R118Q 0.959 156 0% 177 33.3% 0 - probably_damaging(0.989) tolerated(0.41) neutral(0.455) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like FAM184A 79632 genome.wustl.edu 37 6 119399444 119399444 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024581.4 -1 validated p.S7R 1.000 25 0% 41 31.7% 0 - possibly_damaging(0.887) tolerated(0.06) deleterious(0.669) NULL MAN1A1 4121 genome.wustl.edu 37 6 119510929 119510929 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005907.2 -1 reviewed p.F482 1.000 66 0% 33 42.4% 21 28.5% - - - HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 C6orf170 221322 genome.wustl.edu 37 6 121427285 121427285 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152730.4 -1 validated p.E1117* 0.007 100 0% 32 31.2% 3 33.3% - - - NULL C6orf170 221322 genome.wustl.edu 37 6 121638731 121638731 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152730.4 -1 validated p.R135 0.003 454 0% 219 31.1% 4 25% - - - NULL C6orf170 221322 genome.wustl.edu 37 6 121655463 121655463 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152730.4 -1 validated p.E38D 1.000 59 0% 143 30.1% 4 25% probably_damaging(0.971) tolerated(0.8) neutral(0.413) NULL SMPDL3A 10924 genome.wustl.edu 37 6 123130409 123130409 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006714.3 +1 validated p.Y406* 1.000 90 0% 87 34.5% 4 0% - - - NULL TRDN 10345 genome.wustl.edu 37 6 123581763 123581763 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006073.2 -1 validated p.E609* 0.995 151 0% 57 42.1% 0 - - - - NULL TRDN 10345 genome.wustl.edu 37 6 123653061 123653061 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006073.2 -1 validated p.G478 0.005 154 0% 56 28.6% 0 - - - - NULL TRDN 10345 genome.wustl.edu 37 6 123759262 123759262 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006073.2 -1 validated p.E333* 1.000 248 0% 133 19.5% 0 - - - - NULL TRDN 10345 genome.wustl.edu 37 6 123837340 123837340 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006073.2 -1 validated p.E166* 0.998 117 0% 43 30.2% 0 - - - - HMMPfam_Triadin NKAIN2 154215 genome.wustl.edu 37 6 125112505 125112505 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040214.1 +1 reviewed p.A165 1.000 266 0% 111 11.7% 0 - - - - HMMPfam_NKAIN RNF217 154214 genome.wustl.edu 37 6 125379111 125379111 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152553.2 +1 provisional p.F88 0.817 147 0% 53 24.5% 2 50% - - - HMMPfam_IBR,HMMSmart_SM00647,superfamily_RING/U-box NCOA7 135112 genome.wustl.edu 37 6 126176216 126176216 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181782.3 +1 validated p.V34A 0.001 132 0% 94 29.8% 7 28.5% benign(0) tolerated(0.49) neutral(0.011) NULL NCOA7 135112 genome.wustl.edu 37 6 126210825 126210825 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181782.3 +1 validated p.K542T 0.912 39 0% 18 50% 3 33.3% possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL LOC728666 728666 genome.wustl.edu 37 6 126965402 126965402 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_015645.3 +1 model NULL 1.000 17 0% 40 27.5% 87 0% - - - - RSPO3 84870 genome.wustl.edu 37 6 127476456 127476456 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032784.3 +1 reviewed p.K169N 1.000 134 0% 87 34.5% 7 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ECHDC1 55862 genome.wustl.edu 37 6 127648140 127648140 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000368287 -1 known p.V124I 0.005 95 0% 81 33.3% 0 - - - - NULL KIAA0408 9729 genome.wustl.edu 37 6 127768721 127768721 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014702.4 -1 validated p.S248Y 0.002 125 0% 45 24.4% 0 - benign(0.001) tolerated(0.34) neutral(0.023) NULL SOGA3 387104 genome.wustl.edu 37 6 127834161 127834161 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012279.2 -1 validated p.E454* 1.000 342 0% 532 28.6% 0 - - - - NULL C6orf58 352999 genome.wustl.edu 37 6 127911363 127911363 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010905.1 +1 predicted p.R269L 0.281 183 0% 178 29.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_DUF781 PTPRK 5796 genome.wustl.edu 37 6 128302304 128302304 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135648.1 -1 validated p.I1229S 1.000 87 0% 63 34.9% 57 52.6% benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 LAMA2 3908 genome.wustl.edu 37 6 129724970 129724970 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000426.3 +1 reviewed p.L1911I 1.000 93 0% 46 28.3% 3 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_ConA_like_lec_gl,superfamily_SSF56399 ARHGAP18 93663 genome.wustl.edu 37 6 129921907 129921907 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033515.2 -1 validated p.P484 0.005 144 0.7% 44 40.9% 12 8.3% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SAMD3 154075 genome.wustl.edu 37 6 130497126 130497126 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017373.2 -1 validated p.R228C 1.000 215 0% 140 28.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM200A 114801 genome.wustl.edu 37 6 130762884 130762884 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052913.2 +1 provisional p.P439 0.003 82 0% 34 38.2% 27 40.7% - - - NULL EPB41L2 2037 genome.wustl.edu 37 6 131216189 131216189 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001431.3 -1 validated p.R436Q 1.000 102 0% 64 26.6% 48 31.2% probably_damaging(0.977) deleterious(0.04) deleterious(0.768) HMMPfam_FERM_C,superfamily_SSF50729 MED23 9439 genome.wustl.edu 37 6 131919435 131919435 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004830.2 -1 reviewed p.L867I 1.000 93 0% 51 25.5% 24 25% possibly_damaging(0.643) tolerated(0.1) deleterious(0.512) NULL OR2A4 79541 genome.wustl.edu 37 6 132022338 132022338 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030908.1 -1 provisional p.V68 0.167 211 0% 145 11% 3 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 CTAGE9 643854 genome.wustl.edu 37 6 132030212 132030212 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145659.1 -1 provisional p.S649Y 0.000 254 0% 298 9.7% 7 0% probably_damaging(0.993) tolerated(0.14) deleterious(0.700) NULL CTAGE9 643854 genome.wustl.edu 37 6 132031690 132031690 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145659.1 -1 provisional p.E156D 0.000 305 0% 303 9.2% 0 - probably_damaging(0.972) deleterious(0.03) deleterious(0.778) NULL ENPP1 5167 genome.wustl.edu 37 6 132168973 132168973 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006208.2 +1 reviewed p.S100C 1.000 104 0% 134 11.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAAR2 9287 genome.wustl.edu 37 6 132938920 132938920 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033080.1 -1 validated p.F142C 1.000 78 0% 25 32% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like VNN2 8875 genome.wustl.edu 37 6 133072643 133072643 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004665.2 -1 reviewed p.A281T 0.784 22 0.000 9 0.444 4 0% benign(0.344) tolerated(0.37) neutral(0.128) superfamily_Ntlse/CNhydtse VNN2 8875 genome.wustl.edu 37 6 133078911 133078911 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004665.2 -1 reviewed p.P38S 0.996 140 0% 76 32.9% 2 0% possibly_damaging(0.505) tolerated(0.23) neutral(0.211) superfamily_Ntlse/CNhydtse ALDH8A1 64577 genome.wustl.edu 37 6 135264963 135264963 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022568.2 -1 reviewed p.D94Y 1.000 33 0% 62 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldedh,superfamily_ALDH-like HBS1L 10767 genome.wustl.edu 37 6 135287538 135287538 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006620.3 -1 reviewed p.D658Y 1.000 159 0% 114 31.6% 27 48.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain PDE7B 27115 genome.wustl.edu 37 6 136268612 136268612 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018945.3 +1 reviewed p.E11G 1.000 190 0% 93 29% 0 - possibly_damaging(0.477) tolerated(0.45) neutral(0.170) NULL PDE7B 27115 genome.wustl.edu 37 6 136502367 136502367 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018945.3 +1 reviewed p.I317 0.986 164 0% 109 32.1% 2 0% - - - HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like FAM54A 113115 genome.wustl.edu 37 6 136564103 136564103 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099286.1 -1 validated p.P59 0.000 119 0% 154 33.1% 7 14.2% - - - HMMPfam_DUF729 MAP3K5 4217 genome.wustl.edu 37 6 136913321 136913321 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005923.3 -1 reviewed p.S1072F 0.999 80 0% 38 36.8% 6 16.6% benign(0.052) tolerated(0.13) neutral(0.256) NULL NHSL1 57224 genome.wustl.edu 37 6 138752115 138752115 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144060.1 -1 validated p.N1123H 0.858 35 0% 70 40% 16 31.2% benign(0.002) tolerated(0.11) neutral(0.272) NULL REPS1 85021 genome.wustl.edu 37 6 139232480 139232480 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031922.3 -1 validated p.S666Y 1.000 173 0% 136 32.4% 39 35.8% benign(0.313) deleterious(0.02) deleterious(0.481) NULL NMBR 4829 genome.wustl.edu 37 6 142399812 142399812 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002511.2 -1 validated p.F217L 1.000 195 0% 108 31.5% 0 - benign(0.333) deleterious(0) deleterious(0.549) HMMPfam_7tm_1,superfamily_SSF81321 GPR126 57211 genome.wustl.edu 37 6 142691825 142691825 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198569.2 +1 reviewed p.L322F 1.000 65 0% 43 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ConA_like_lec_gl GPR126 57211 genome.wustl.edu 37 6 142738465 142738465 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198569.2 +1 reviewed p.V998 0.982 279 0% 124 40.3% 0 - - - - HMMPfam_7tm_2,superfamily_SSF81321 HIVEP2 3097 genome.wustl.edu 37 6 143093196 143093196 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006734.3 -1 provisional p.T894A 1.000 198 0% 163 25.2% 9 44.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PEX3 8504 genome.wustl.edu 37 6 143772221 143772221 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003630.2 +1 reviewed p.K14N 1.000 94 0% 149 30.2% 11 27.2% possibly_damaging(0.909) deleterious(0.01) deleterious(0.768) HMMPfam_Peroxin-3 PEX3 8504 genome.wustl.edu 37 6 143800251 143800251 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003630.2 +1 reviewed p.R286Q 1.000 190 0% 108 25.9% 26 50% probably_damaging(0.998) tolerated(0.21) deleterious(0.518) HMMPfam_Peroxin-3 FUCA2 2519 genome.wustl.edu 37 6 143818590 143818590 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032020.3 -1 validated p.L400R 0.998 133 0% 90 31.1% 84 38% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Alpha_L_fucos,HMMSmart_Alpha_L_fucos PHACTR2 9749 genome.wustl.edu 37 6 144070121 144070121 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100164.1 +1 validated e3-1 1.000 164 0% 137 25.5% 0 - - - - - LTV1 84946 genome.wustl.edu 37 6 144184235 144184235 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032860.3 +1 provisional p.R377* 0.986 115 0% 76 18.4% 31 12.9% - - - HMMPfam_LTV ZC2HC1B 153918 genome.wustl.edu 37 6 144207862 144207862 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013623.2 +1 validated p.D85Y 1.000 132 0% 67 10.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UTRN 7402 genome.wustl.edu 37 6 144613013 144613013 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007124.2 +1 reviewed p.E17K 0.864 101 0% 103 28.2% 2 50% benign(0.009) deleterious(0.02) neutral(0.384) superfamily_Calponin-homology UTRN 7402 genome.wustl.edu 37 6 144774943 144774943 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007124.2 +1 reviewed p.R741I 0.708 134 0% 68 30.9% 1 0% benign(0.001) deleterious(0.04) neutral(0.349) HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144780022 144780022 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007124.2 +1 reviewed p.N801H 0.261 49 0% 37 32.4% 4 0% benign(0.093) tolerated(0.17) neutral(0.066) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144795847 144795847 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007124.2 +1 reviewed p.Q1096 0.460 131 0% 195 32.3% 1 0% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144820548 144820548 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007124.2 +1 reviewed p.E1583D 0.986 55 0% 85 10.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144838031 144838031 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007124.2 +1 reviewed p.E1830* 1.000 113 0% 61 39.3% 4 0% - - - NULL FBXO30 84085 genome.wustl.edu 37 6 146121337 146121337 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032145.4 -1 reviewed p.R715W 0.948 85 0% 47 40.4% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FBXO30 84085 genome.wustl.edu 37 6 146125924 146125924 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032145.4 -1 reviewed p.H540N 1.000 54 0% 46 30.4% 9 66.6% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL SHPRH 257218 genome.wustl.edu 37 6 146244837 146244837 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042683.2 -1 validated p.R1172* 1.000 338 0.3% 107 29.9% 3 0% - - - NULL GRM1 2911 genome.wustl.edu 37 6 146720182 146720182 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000838.3 +1 reviewed p.A669 1.000 152 0% 130 36.9% 0 - - - - HMMPfam_7tm_3 ADGB 79747 genome.wustl.edu 37 6 147045379 147045379 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024694.3 +1 provisional p.S718Y 0.877 154 0% 94 29.8% 0 - probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL ADGB 79747 genome.wustl.edu 37 6 147073671 147073671 + Missense_Mutation SNP C C T rs186199600 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024694.3 +1 provisional p.S1124L 0.910 87 0% 46 26.1% 0 - benign(0.205) tolerated(0.35) neutral(0.041) NULL ADGB 79747 genome.wustl.edu 37 6 147128622 147128622 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000367489 +1 known p.L580 0.004 33 0% 52 28.8% 0 - - - - NULL STXBP5 134957 genome.wustl.edu 37 6 147636697 147636697 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127715.1 +1 reviewed p.E483D 0.999 90 0% 50 12% 0 - benign(0.155) tolerated(0.1) neutral(0.300) superfamily_WD40 repeat-like SAMD5 389432 genome.wustl.edu 37 6 147885571 147885571 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001030060.2 +1 validated p.P167 1.000 118 0% 76 26.3% 0 - - - - NULL TAB2 23118 genome.wustl.edu 37 6 149700405 149700405 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015093.4 +1 reviewed p.R452* 1.000 86 0% 92 33.7% 46 23.9% - - - NULL LATS1 9113 genome.wustl.edu 37 6 150004302 150004302 + Missense_Mutation SNP G G T rs35163691 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004690.2 -1 reviewed p.F641L 1.000 178 0% 146 32.2% 6 33.3% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL NUP43 348995 genome.wustl.edu 37 6 150048232 150048232 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198887.1 -1 validated p.R339Q 0.998 135 0% 147 36.7% 23 39.1% benign(0.377) tolerated(0.07) neutral(0.440) NULL RAET1L 154064 genome.wustl.edu 37 6 150342234 150342234 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130900.2 -1 validated p.Q146 0.000 360 0% 445 34.4% 0 - - - - HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog PLEKHG1 57480 genome.wustl.edu 37 6 151162001 151162001 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029884.1 +1 provisional p.F1376C 1.000 31 0% 26 34.6% 24 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKAP12 9590 genome.wustl.edu 37 6 151670019 151670019 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005100.3 +1 reviewed p.S165A 0.973 82 0% 75 29.3% 0 - benign(0.005) deleterious(0.02) neutral(0.383) NULL AKAP12 9590 genome.wustl.edu 37 6 151671831 151671831 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005100.3 +1 reviewed p.R769 0.928 46 0% 51 41.2% 0 - - - - HMMPfam_WSK C6orf211 79624 genome.wustl.edu 37 6 151779539 151779539 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024573.1 +1 predicted p.F75C 0.267 131 0% 148 33.1% 55 60% unknown(0) - - HMMPfam_DUF89,superfamily_DUF89 C6orf97 80129 genome.wustl.edu 37 6 151857537 151857537 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025059.3 +1 validated p.E48* 1.000 119 0% 78 35.9% 3 0% - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152542080 152542080 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.S7253L 0.004 130 0% 55 72.7% 6 0% benign(0.018) deleterious(0.02) neutral(0.384) HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152577882 152577882 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.R6331 0.932 60 0% 60 18.3% 1 0% - - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152637963 152637963 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000413186 -1 known p.I5579 0.677 177 0% 129 27.1% 0 - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152642522 152642522 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.L5363I 0.998 169 0% 140 12.9% 0 - possibly_damaging(0.442) - - NULL SYNE1 23345 genome.wustl.edu 37 6 152652609 152652609 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.L4404P 0.926 100 0% 63 17.5% 0 - possibly_damaging(0.951) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152660419 152660419 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.S4103L 0.043 251 0% 88 20.5% 0 - benign(0) - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152679555 152679555 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.L3521I 1.000 218 0% 137 36.5% 0 - probably_damaging(0.975) - - HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152683409 152683409 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.R3399* 0.890 145 0% 104 29.8% 0 - - - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152706905 152706905 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.F2852L 0.999 199 0% 78 37.2% 0 - benign(0.006) - - HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152716701 152716701 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.K2554 1.000 299 0% 152 23.7% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152720786 152720786 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.A2401V 1.000 195 0% 57 29.8% 0 - possibly_damaging(0.692) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152730208 152730208 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.L2179 1.000 266 0% 140 32.1% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152779939 152779939 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.L841I 1.000 100 0% 82 29.3% 1 0% possibly_damaging(0.878) tolerated(0.47) neutral(0.353) NULL SYNE1 23345 genome.wustl.edu 37 6 152786476 152786476 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.R617C 0.999 257 0% 173 28.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152823821 152823821 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182961.2 -1 reviewed p.L279M 1.000 190 0% 112 24.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_CH,superfamily_Calponin-homology domain CH-domain RGS17 26575 genome.wustl.edu 37 6 153345460 153345460 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012419.4 -1 reviewed p.K127N 1.000 285 0% 180 35% 1 0% benign(0.001) tolerated(0.36) neutral(0.020) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam IPCEF1 26034 genome.wustl.edu 37 6 154520992 154520992 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130699.1 -1 validated p.T240 0.000 130 0% 57 26.3% 3 66.6% - - - NULL SCAF8 22828 genome.wustl.edu 37 6 155139671 155139671 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014892.3 +1 validated p.R527Q 1.000 202 0% 122 27% 19 42.1% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 TIAM2 26230 genome.wustl.edu 37 6 155561738 155561738 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012454.3 +1 reviewed p.E1081D 0.021 55 0% 76 40.8% 2 50% benign(0) tolerated(0.74) neutral(0.002) NULL NOX3 50508 genome.wustl.edu 37 6 155717994 155717994 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015718.2 -1 reviewed p.F561L 0.996 88 0% 37 16.2% 1 100% possibly_damaging(0.728) deleterious(0.01) deleterious(0.671) NULL SYNJ2 8871 genome.wustl.edu 37 6 158454697 158454697 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003898.3 +1 reviewed p.F232 1.000 35 0% 39 43.6% 2 0% - - - HMMPfam_Syja_N SYNJ2 8871 genome.wustl.edu 37 6 158487585 158487585 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003898.3 +1 reviewed p.F545 0.977 17 0% 51 31.4% 5 80% - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like TMEM181 57583 genome.wustl.edu 37 6 159050828 159050828 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020823.1 +1 validated p.S557Y 0.040 236 0% 343 25.9% 21 28.5% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL TAGAP 117289 genome.wustl.edu 37 6 159457526 159457526 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_054114.3 -1 reviewed p.S510Y 1.000 101 0% 81 27.2% 3 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL FNDC1 84624 genome.wustl.edu 37 6 159644568 159644568 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032532.2 +1 validated p.E259K 0.708 223 0% 215 30.7% 3 0% unknown(0) tolerated(0.13) - superfamily_FN_III-like FNDC1 84624 genome.wustl.edu 37 6 159660582 159660582 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032532.2 +1 validated p.G1405D 0.990 49 0% 81 14.8% 8 0% unknown(0) deleterious(0) - NULL PNLDC1 154197 genome.wustl.edu 37 6 160225063 160225063 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173516.1 +1 provisional p.F94L 1.000 249 0% 399 33.1% 0 - benign(0.038) tolerated(0.16) neutral(0.061) HMMPfam_CAF1,superfamily_Ribonuclease H-like IGF2R 3482 genome.wustl.edu 37 6 160499382 160499382 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000876.2 +1 reviewed p.T1822 0.000 115 0% 130 12.3% 76 5.2% - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain IGF2R 3482 genome.wustl.edu 37 6 160504994 160504994 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000876.2 +1 reviewed p.R1949Q 0.620 55 0% 77 11.7% 65 10.7% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain SLC22A1 6580 genome.wustl.edu 37 6 160543171 160543171 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003057.2 +1 reviewed p.E68D 1.000 37 0% 41 39% 0 - benign(0.254) tolerated(0.26) neutral(0.060) NULL SLC22A2 6582 genome.wustl.edu 37 6 160664676 160664676 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003058.2 -1 reviewed p.R403C 0.468 71 0% 41 22% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_SUGAR_TRANSPORT_1,superfamily_MFS general substrate transporter LPA 4018 genome.wustl.edu 37 6 160978488 160978488 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005577.2 -1 reviewed p.E1583* 0.002 131 0% 103 33% 0 - - - - superfamily_Kringle-like PLG 5340 genome.wustl.edu 37 6 161162342 161162342 + Splice_Site SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000301.3 +1 reviewed e17-1 0.995 116 0% 45 33.3% 0 - - - - - PLG 5340 genome.wustl.edu 37 6 161174009 161174009 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000301.3 +1 reviewed p.G783 1.000 288 0% 178 32% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MAP3K4 4216 genome.wustl.edu 37 6 161533759 161533759 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005922.2 +1 reviewed p.D1527N 1.000 79 0% 48 33.3% 48 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PARK2 5071 genome.wustl.edu 37 6 161771140 161771140 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004562.2 -1 reviewed p.F463 1.000 18 0% 47 40.4% 5 40% - - - NULL PDE10A 10846 genome.wustl.edu 37 6 165827143 165827143 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130690.1 -1 validated p.R375L 0.981 76 1.3% 85 36.5% 1 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 T 6862 genome.wustl.edu 37 6 166578101 166578101 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003181.2 -1 reviewed p.Y241S 0.615 74 0% 119 26.9% 0 - benign(0.048) tolerated(0.13) neutral(0.256) NULL RPS6KA2 6196 genome.wustl.edu 37 6 166864702 166864702 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006932.1 -1 reviewed p.P373 1.000 99 0% 147 42.2% 13 38.4% - - - HMMSmart_S_TK_X,HMMPfam_Pkinase_C MLLT4 4301 genome.wustl.edu 37 6 168347398 168347398 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040001.1 +1 validated p.R1116C 1.000 131 0% 84 39.3% 63 65% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_PDZ THBS2 7058 genome.wustl.edu 37 6 169632223 169632223 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003247.2 -1 reviewed p.L668P 1.000 163 0% 329 21.3% 25 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_EGF,HMMSmart_EGF PHF10 55274 genome.wustl.edu 37 6 170112483 170112483 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018288.3 -1 reviewed p.S319L 1.000 193 0% 150 27.3% 93 39.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL TCTE3 6991 genome.wustl.edu 37 6 170143247 170143247 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174910.1 -1 provisional p.E139* 1.000 132 0% 136 33.8% 0 - - - - HMMPfam_Tctex-1 C6orf70 55780 genome.wustl.edu 37 6 170156857 170156857 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018341.1 +1 validated p.D154Y 1.000 267 0% 364 16.2% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C6orf70 55780 genome.wustl.edu 37 6 170173461 170173461 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018341.1 +1 validated p.S427N 0.000 193 0% 196 29.6% 13 30.7% benign(0.025) tolerated(0.33) neutral(0.025) NULL PDCD2 5134 genome.wustl.edu 37 6 170889100 170889100 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002598.2 -1 reviewed p.E251V 1.000 106 0% 182 30.8% 22 22.7% benign(0.249) tolerated(0.12) neutral(0.286) HMMPfam_PDCD2_C SUN1 23353 genome.wustl.edu 37 7 883201 883201 + Silent SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000403868 +1 known p.P234 0.000 30 0% 31 32.3% 0 - - - - HMMPfam_MRP ELFN1 392617 genome.wustl.edu 37 7 1784533 1784533 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128636.2 +1 validated p.D101N 1.000 45 0% 69 27.5% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like MAD1L1 8379 genome.wustl.edu 37 7 2020159 2020159 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013836.1 -1 reviewed p.K478N 1.000 38 0% 46 30.4% 27 40.7% benign(0.253) tolerated(0.25) neutral(0.063) HMMPfam_MAD SNX8 29886 genome.wustl.edu 37 7 2309254 2309254 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013321.1 -1 provisional p.K187N 0.999 52 0% 84 27.4% 32 46.8% possibly_damaging(0.773) deleterious(0.01) deleterious(0.693) NULL EIF3B 8662 genome.wustl.edu 37 7 2409115 2409115 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037283.1 +1 validated p.S471Y 1.000 163 0% 197 26.4% 78 48.7% possibly_damaging(0.952) deleterious(0.03) deleterious(0.760) superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain AMZ1 155185 genome.wustl.edu 37 7 2740170 2740170 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133463.1 +1 provisional p.Q29E 1.000 31 0% 58 32.8% 1 0% benign(0.138) tolerated(0.24) neutral(0.049) NULL SDK1 221935 genome.wustl.edu 37 7 3678657 3678657 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152744.3 +1 validated p.Q160H 0.926 82 0% 116 31% 5 60% benign(0.116) tolerated(0.08) neutral(0.309) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin RADIL 55698 genome.wustl.edu 37 7 4854968 4854968 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018059.4 -1 validated p.F694L 1.000 12 0% 22 31.8% 0 - probably_damaging(1) tolerated(0.36) deleterious(0.520) HMMPfam_DIL PAPOLB 56903 genome.wustl.edu 37 7 4899749 4899749 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020144.4 -1 validated p.A565T 0.001 120 0% 182 32.4% 0 - benign(0) tolerated(0.38) neutral(0.018) NULL PAPOLB 56903 genome.wustl.edu 37 7 4900342 4900342 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020144.4 -1 validated p.S367N 0.997 293 0% 482 37.8% 0 - benign(0) tolerated(1) - HMMPfam_PAP_RNA-bind,superfamily_PAP_C TNRC18 84629 genome.wustl.edu 37 7 5391703 5391703 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080495.2 -1 provisional p.E1739D 0.218 102 0% 135 41.5% 78 39.7% possibly_damaging(0.63) deleterious(0) deleterious(0.664) NULL TNRC18 84629 genome.wustl.edu 37 7 5434072 5434072 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080495.2 -1 provisional p.E114 1.000 17 0% 42 38.1% 41 41.4% - - - NULL RNF216 54476 genome.wustl.edu 37 7 5760734 5760734 + Missense_Mutation SNP C C T rs188558006 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207111.2 -1 reviewed p.R525Q 0.995 198 0% 225 33.8% 18 38.8% benign(0.003) tolerated(0.39) neutral(0.016) NULL PMS2 5395 genome.wustl.edu 37 7 6022616 6022616 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000535.5 -1 reviewed p.T671 0.038 145 0% 166 16.9% 11 36.3% - - - NULL PMS2 5395 genome.wustl.edu 37 7 6026525 6026525 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000535.5 -1 reviewed p.S624Y 0.905 170 0% 185 25.9% 7 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL PMS2 5395 genome.wustl.edu 37 7 6038760 6038760 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000535.5 -1 reviewed p.G228 0.996 164 0% 166 28.3% 12 41.6% - - - superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,superfamily_Ribosomal protein S5 domain 2-like PMS2 5395 genome.wustl.edu 37 7 6043624 6043624 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000535.5 -1 reviewed p.E77* 1.000 220 0% 285 31.9% 2 0% - - - HMMPfam_HATPase_c,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase RAC1 5879 genome.wustl.edu 37 7 6438343 6438343 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018890.3 +1 reviewed p.P92 0.994 54 0% 75 32% 9 33.3% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases GRID2IP 392862 genome.wustl.edu 37 7 6537829 6537829 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145118.1 -1 validated p.R1144W 1.000 23 0% 39 48.7% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd GRID2IP 392862 genome.wustl.edu 37 7 6542703 6542703 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145118.1 -1 validated p.L1000R 0.996 128 0% 246 21.5% 2 100% probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd ENSG00000198580 0 genome.wustl.edu 37 7 6715801 6715801 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000401847 +1 known p.K327T 0.000 19 0% 19 26.3% 0 - benign(0.036) tolerated(0.1) neutral(0.288) superfamily_C2H2 and C2HC zinc fingers ZNF12 7559 genome.wustl.edu 37 7 6730647 6730647 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016265.3 -1 reviewed p.F642L 0.989 186 0% 106 40.6% 13 53.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RSPH10B2 728194 genome.wustl.edu 37 7 6821074 6821074 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099697.1 +1 provisional p.T575 0.007 129 0% 137 25.5% 0 - - - - NULL CCZ1B 221960 genome.wustl.edu 37 7 6864133 6864133 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198097.2 -1 predicted p.N89D 1.000 406 0% 628 29.5% 26 15.3% benign(0.407) deleterious(0.03) deleterious(0.496) HMMPfam_DUF2049 LOC100131257 100131257 genome.wustl.edu 37 7 7118205 7118205 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001716696.1 -1 model p.Q333H 0.977 46 0% 20 25% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ICA1 3382 genome.wustl.edu 37 7 8260990 8260990 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004968.2 -1 reviewed p.R99* 1.000 162 0% 49 10.2% 2 0% - - - HMMPfam_Arfaptin ICA1 3382 genome.wustl.edu 37 7 8268265 8268265 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004968.2 -1 reviewed p.S74 1.000 201 0% 144 27.1% 3 0% - - - HMMPfam_Arfaptin NXPH1 30010 genome.wustl.edu 37 7 8790931 8790931 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152745.2 +1 reviewed p.K116N 1.000 96 0% 40 20% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neurexophilin LOC340268 340268 genome.wustl.edu 37 7 9767364 9767364 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_041608.1 +1 model NULL 0.998 95 0% 124 29.8% 2 0% - - - - LOC340268 340268 genome.wustl.edu 37 7 9767394 9767394 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_041608.1 +1 model NULL 0.997 89 0% 105 41% 4 0% - - - - THSD7A 221981 genome.wustl.edu 37 7 11445978 11445978 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015204.2 -1 validated p.D1396Y 1.000 98 0% 61 26.2% 0 - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) HMMSmart_SM00209 VWDE 221806 genome.wustl.edu 37 7 12397065 12397065 + Silent SNP G G A rs187389208 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135924.1 -1 provisional p.F1117 0.204 106 0% 88 33% 0 - - - - NULL VWDE 221806 genome.wustl.edu 37 7 12401120 12401120 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135924.1 -1 provisional p.E976* 0.969 70 0% 39 20.5% 0 - - - - NULL VWDE 221806 genome.wustl.edu 37 7 12410326 12410326 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135924.1 -1 provisional p.I584M 0.791 76 0% 49 26.5% 0 - possibly_damaging(0.701) tolerated(0.06) deleterious(0.575) NULL VWDE 221806 genome.wustl.edu 37 7 12417507 12417507 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135924.1 -1 provisional p.E307* 0.998 212 0% 151 24.5% 1 0% - - - NULL DGKB 1607 genome.wustl.edu 37 7 14797330 14797330 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004080.2 -1 reviewed p.L33I 1.000 126 0% 84 26.2% 0 - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) superfamily_EF-hand BZW2 28969 genome.wustl.edu 37 7 16714165 16714165 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014038.2 +1 validated p.R63C 1.000 85 0% 69 30.4% 72 51.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AGR2 10551 genome.wustl.edu 37 7 16840828 16840828 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006408.3 -1 validated e3-1 1.000 193 0% 111 27% 0 - - - - - AHR 196 genome.wustl.edu 37 7 17379554 17379554 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001621.4 +1 validated p.S702Y 0.723 119 0% 118 28.8% 35 42.8% benign(0.237) deleterious(0.01) neutral(0.429) NULL SNX13 23161 genome.wustl.edu 37 7 17885226 17885226 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015132.4 -1 reviewed p.F386C 1.000 73 0% 40 55% 21 42.8% benign(0.143) deleterious(0.01) neutral(0.418) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS HDAC9 9734 genome.wustl.edu 37 7 18706067 18706067 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178425.2 +1 reviewed p.E567* 1.000 109 0% 60 20% 17 35.2% - - - NULL FERD3L 222894 genome.wustl.edu 37 7 19184784 19184784 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152898.2 -1 validated p.E68K 0.002 43 0% 57 28.1% 0 - possibly_damaging(0.921) tolerated(0.57) neutral(0.377) NULL ITGB8 3696 genome.wustl.edu 37 7 20441521 20441521 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002214.2 +1 reviewed p.L487 0.000 196 0% 121 26.4% 1 0% - - - NULL ABCB5 340273 genome.wustl.edu 37 7 20766747 20766747 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178559.5 +1 validated p.L459F 0.866 126 0% 92 30.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB5 340273 genome.wustl.edu 37 7 20782533 20782533 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178559.5 +1 validated p.V575F 0.930 207 0% 110 13.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21646079 21646079 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003777.3 +1 reviewed p.I1228 0.979 123 0% 89 11.2% 0 - - - - NULL DNAH11 8701 genome.wustl.edu 37 7 21789321 21789321 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003777.3 +1 reviewed p.R2907Q 1.000 157 0% 72 23.6% 0 - possibly_damaging(0.691) deleterious(0) deleterious(0.692) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases RAPGEF5 9771 genome.wustl.edu 37 7 22259567 22259567 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012294.3 -1 validated p.R152Q 0.989 252 0% 144 27.1% 0 - probably_damaging(0.997) tolerated(0.36) deleterious(0.486) NULL RAPGEF5 9771 genome.wustl.edu 37 7 22270533 22270533 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012294.3 -1 validated p.E115* 0.999 199 0% 60 33.3% 0 - - - - NULL RAPGEF5 9771 genome.wustl.edu 37 7 22348029 22348029 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012294.3 -1 validated p.E50 0.915 143 0% 88 28.4% 1 0% - - - "superfamily_""Winged helix"" DNA-binding domain" ENSG00000105889 0 genome.wustl.edu 37 7 22534459 22534459 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000441815 -1 known p.D153Y 0.987 360 0% 394 29.9% 1 0% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL TOMM7 54543 genome.wustl.edu 37 7 22852783 22852783 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000372879 -1 known p.L104S 0.393 101 0% 143 18.2% 734 41% unknown(0) - - NULL FAM126A 84668 genome.wustl.edu 37 7 22999924 22999924 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000440481 -1 known p.E366G 1.000 204 0% 191 28.3% 3 66.6% - - - HMMPfam_Hyccin KLHL7 55975 genome.wustl.edu 37 7 23145721 23145721 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031710.2 +1 reviewed p.L26V 0.994 55 0% 90 33.3% 38 50% possibly_damaging(0.891) tolerated(0.2) neutral(0.399) superfamily_BTB/POZ_fold GPNMB 10457 genome.wustl.edu 37 7 23296733 23296733 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000409458 +1 known p.F197C 0.001 70 0% 32 34.4% 0 - benign(0.04) tolerated(0.12) neutral(0.263) NULL STK31 56164 genome.wustl.edu 37 7 23793941 23793941 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031414.3 +1 reviewed p.D381N 0.135 177 0% 141 31.9% 0 - benign(0) tolerated(1) - NULL STK31 56164 genome.wustl.edu 37 7 23810683 23810683 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031414.3 +1 reviewed p.K591N 0.997 150 0% 71 33.8% 0 - possibly_damaging(0.507) tolerated(0.06) deleterious(0.492) NULL NPY 4852 genome.wustl.edu 37 7 24324930 24324930 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000905.3 +1 reviewed p.A24V 0.494 17 0% 51 37.3% 0 - benign(0.011) tolerated(0.06) neutral(0.323) NULL MPP6 51678 genome.wustl.edu 37 7 24681473 24681473 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016447.2 +1 provisional p.E86* 1.000 127 0% 102 28.4% 6 33.3% - - - HMMSmart_SM00569,HMMPfam_L27 MPP6 51678 genome.wustl.edu 37 7 24703285 24703285 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016447.2 +1 provisional p.F243C 1.000 193 0% 88 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 CYCS 54205 genome.wustl.edu 37 7 25163710 25163710 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018947.4 -1 reviewed p.I10S 1.000 74 0% 120 28.3% 166 54.2% possibly_damaging(0.554) deleterious(0) deleterious(0.633) HMMPfam_Cytochrom_C,superfamily_Cytochrome c C7orf31 136895 genome.wustl.edu 37 7 25176354 25176354 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138811.3 -1 validated p.R337Q 0.621 109 0% 67 14.9% 3 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SKAP2 8935 genome.wustl.edu 37 7 26724363 26724363 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003930.3 -1 reviewed p.L327I 1.000 113 0% 86 26.7% 14 14.2% possibly_damaging(0.579) tolerated(0.27) neutral(0.233) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain SKAP2 8935 genome.wustl.edu 37 7 26729929 26729929 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003930.3 -1 reviewed p.S283 0.880 186 0% 79 27.8% 13 30.7% - - - superfamily_SH3-domain HOXA2 3199 genome.wustl.edu 37 7 27140743 27140743 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006735.3 -1 reviewed p.E245* 1.000 86 0% 176 32.4% 1 100% - - - NULL HOXA5 3202 genome.wustl.edu 37 7 27181510 27181510 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019102.2 -1 reviewed p.D253Y 1.000 150 0% 246 26.8% 5 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00389,superfamily_Homeodomain-like LOC100289444 100289444 genome.wustl.edu 37 7 27203043 27203043 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342713.1 +1 model p.R347* 0.000 39 0% 61 37.7% 45 40% - - - NULL HOXA13 3209 genome.wustl.edu 37 7 27237871 27237871 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000522.4 -1 reviewed p.Q371 1.000 337 0% 700 33.3% 1 100% - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 ENSG00000248357 0 genome.wustl.edu 37 7 27498201 27498201 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000506075 +1 novel NULL 1.000 131 0% 223 15.7% 106 0.9% - - - - CREB5 9586 genome.wustl.edu 37 7 28858886 28858886 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182898.2 +1 reviewed p.P506L 1.000 113 0% 88 29.5% 2 50% unknown(0) deleterious(0) - NULL CHN2 1124 genome.wustl.edu 37 7 29394237 29394237 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000409964 +1 known e1-2 0.996 66 0% 48 37.5% 0 - - - - - SCRN1 9805 genome.wustl.edu 37 7 29966137 29966137 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145514.1 -1 reviewed p.E359D 1.000 79 0% 77 24.7% 17 64.7% benign(0.422) tolerated(0.18) neutral(0.193) NULL GARS 2617 genome.wustl.edu 37 7 30639571 30639571 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002047.2 +1 reviewed p.A111 0.287 85 0% 131 35.9% 78 44.8% - - - HMMPfam_WHEP-TRS ADCYAP1R1 117 genome.wustl.edu 37 7 31120239 31120239 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001118.3 +1 reviewed p.E93K 0.828 111 0% 131 34.4% 0 - benign(0.004) tolerated(0.11) neutral(0.272) HMMPfam_HRM,HMMSmart_SM00008,superfamily_Hormone receptor domain (HRM Pfam 02793) LSM5 23658 genome.wustl.edu 37 7 32528929 32528929 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012322.2 -1 validated p.R25I 1.000 118 0% 160 33.1% 111 44.1% possibly_damaging(0.816) deleterious(0.01) deleterious(0.714) HMMPfam_LSM,HMMSmart_SM00651,superfamily_Sm-like ribonucleoproteins KBTBD2 25948 genome.wustl.edu 37 7 32909420 32909420 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015483.2 -1 validated p.K470T 1.000 96 0% 41 17.1% 28 10.7% benign(0.004) tolerated(0.6) neutral(0.004) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KBTBD2 25948 genome.wustl.edu 37 7 32909627 32909627 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015483.2 -1 validated p.R401I 1.000 240 0% 110 41.8% 47 40.4% probably_damaging(0.998) tolerated(0.45) deleterious(0.486) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain FKBP9 11328 genome.wustl.edu 37 7 33014331 33014331 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007270.3 +1 validated p.F108 0.252 128 0% 90 31.1% 65 41.5% - - - HMMPfam_FKBP_C,superfamily_SSF54534 NT5C3 51251 genome.wustl.edu 37 7 33057195 33057195 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002010.1 -1 reviewed p.F188L 1.000 121 0% 70 27.1% 33 36.3% benign(0.109) tolerated(0.38) neutral(0.026) HMMPfam_UMPH-1,superfamily_HAD-like BBS9 27241 genome.wustl.edu 37 7 33388774 33388774 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198428.2 +1 reviewed p.E475G 0.994 219 0% 161 32.9% 11 27.2% benign(0.039) tolerated(0.18) neutral(0.058) NULL NPSR1 387129 genome.wustl.edu 37 7 34851415 34851415 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207173.1 +1 reviewed p.V140L 1.000 189 0% 150 40% 0 - probably_damaging(0.998) tolerated(0.24) deleterious(0.512) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like HERPUD2 64224 genome.wustl.edu 37 7 35673409 35673409 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022373.4 -1 validated p.E371G 1.000 280 0% 128 29.7% 19 63.1% benign(0.152) tolerated(0.35) neutral(0.034) NULL EEPD1 80820 genome.wustl.edu 37 7 36336744 36336744 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030636.2 +1 validated p.S486 0.163 210 0% 190 30% 11 18.1% - - - HMMPfam_Exo_endo_phos,superfamily_DNase I-like EEPD1 80820 genome.wustl.edu 37 7 36336749 36336749 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030636.2 +1 validated p.S488Y 0.999 208 0% 189 37% 9 55.5% possibly_damaging(0.444) tolerated(0.09) neutral(0.442) HMMPfam_Exo_endo_phos,superfamily_DNase I-like ANLN 54443 genome.wustl.edu 37 7 36438750 36438750 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018685.2 +1 validated p.V79I 0.837 67 0% 75 24% 16 25% benign(0.001) tolerated(0.51) neutral(0.009) NULL ANLN 54443 genome.wustl.edu 37 7 36459857 36459857 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000446635 +1 known p.E9* 1.000 73 0% 29 27.6% 17 35.2% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL AOAH 313 genome.wustl.edu 37 7 36713604 36713604 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001637.3 -1 reviewed p.F78L 0.997 214 0% 271 28.8% 4 0% benign(0) tolerated(0.16) neutral(0.059) HMMSmart_SapB,superfamily_Saposin_like ELMO1 9844 genome.wustl.edu 37 7 37136254 37136254 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014800.9 -1 reviewed p.L424 1.000 112 0% 52 34.6% 14 0% - - - HMMPfam_ELMO_CED12 ELMO1 9844 genome.wustl.edu 37 7 37283994 37283994 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014800.9 -1 reviewed p.R139Q 1.000 158 0% 82 32.9% 5 0% benign(0.047) tolerated(0.59) neutral(0.007) superfamily_ARM repeat GPR141 353345 genome.wustl.edu 37 7 37780794 37780794 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181791.1 +1 provisional p.E267K 1.000 215 0% 82 32.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 AMPH 273 genome.wustl.edu 37 7 38502589 38502589 + Missense_Mutation SNP G G A rs151055033 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001635.2 -1 reviewed p.R292W 0.710 215 0% 153 41.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS41 27072 genome.wustl.edu 37 7 38796567 38796567 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014396.3 -1 reviewed p.K522 1.000 146 0% 110 33.6% 16 43.7% - - - superfamily_WD40 repeat-like,superfamily_ARM repeat POU6F2 11281 genome.wustl.edu 37 7 39504072 39504072 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007252.3 +1 reviewed p.I621 1.000 73 0% 71 33.8% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like INHBA 3624 genome.wustl.edu 37 7 41729875 41729875 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002192.2 -1 reviewed p.W218* 1.000 95 0% 56 23.2% 1 0% - - - HMMPfam_TGFb_propeptide INHBA 3624 genome.wustl.edu 37 7 41739731 41739731 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002192.2 -1 reviewed p.A81V 1.000 65 0% 69 36.2% 4 0% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_TGFb_propeptide GLI3 2737 genome.wustl.edu 37 7 42004786 42004786 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000168.5 -1 reviewed p.F1295 0.006 29 0% 39 23.1% 1 0% - - - NULL BLVRA 644 genome.wustl.edu 37 7 43840110 43840110 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000712.3 +1 validated p.F133 0.995 82 0% 59 45.8% 71 45% - - - HMMPfam_Biliv-reduc_cat,superfamily_NAD(P)-bd,superfamily_SSF55347 URGCP 55665 genome.wustl.edu 37 7 43916340 43916340 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077663.1 -1 validated p.E908K 0.913 118 0% 250 30% 35 48.5% probably_damaging(0.99) tolerated(0.36) neutral(0.462) NULL URGCP 55665 genome.wustl.edu 37 7 43917455 43917455 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077663.1 -1 validated p.R536Q 0.067 54 0% 66 40.9% 24 66.6% probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL URGCP 55665 genome.wustl.edu 37 7 43918272 43918272 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077663.1 -1 validated p.A264T 0.974 35 0% 44 34.1% 30 40% possibly_damaging(0.676) tolerated(0.25) neutral(0.277) NULL AEBP1 165 genome.wustl.edu 37 7 44149688 44149688 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001129.3 +1 reviewed p.G409S 0.993 30 0% 59 27.1% 49 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like DDX56 54606 genome.wustl.edu 37 7 44612538 44612538 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019082.2 -1 reviewed p.D112Y 0.997 58 0% 83 20.5% 46 26% possibly_damaging(0.795) deleterious(0.02) deleterious(0.681) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ZMIZ2 83637 genome.wustl.edu 37 7 44802587 44802587 + Splice_Site SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031449.3 +1 validated e11+2 1.000 50 0% 75 14.7% 1 100% - - - - MYO1G 64005 genome.wustl.edu 37 7 45016546 45016546 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033054.2 -1 validated p.R74W 1.000 33 0% 53 34% 12 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ADCY1 107 genome.wustl.edu 37 7 45725746 45725746 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021116.2 +1 reviewed p.M753I 1.000 95 1.1% 85 31.8% 0 - benign(0) tolerated(0.28) neutral(0.032) NULL PKD1L1 168507 genome.wustl.edu 37 7 47852826 47852826 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000433506 -1 known p.P4S 0.001 194 0% 176 25.6% 1 0% - - - NULL PKD1L1 168507 genome.wustl.edu 37 7 47955181 47955181 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138295.2 -1 reviewed p.L359R 0.001 179 0% 134 36.6% 0 - benign(0.008) deleterious(0.01) neutral(0.406) NULL SUN3 256979 genome.wustl.edu 37 7 48046884 48046884 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001030019.1 -1 validated p.L124I 0.988 185 0% 111 35.1% 0 - benign(0.409) tolerated(0.13) neutral(0.385) NULL ABCA13 154664 genome.wustl.edu 37 7 48312640 48312640 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152701.3 +1 reviewed p.Q1126R 0.000 85 0% 55 34.5% 0 - benign(0.124) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48312641 48312641 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152701.3 +1 reviewed p.Q1126H 0.000 87 0% 55 32.7% 0 - benign(0) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48313381 48313381 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152701.3 +1 reviewed p.R1373H 0.000 66 0% 37 27% 0 - benign(0.015) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48314362 48314362 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152701.3 +1 reviewed p.G1700E 0.000 85 0% 68 35.3% 0 - possibly_damaging(0.739) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48315782 48315782 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152701.3 +1 reviewed p.K2173N 0.000 91 0% 43 37.2% 0 - benign(0.097) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48318219 48318219 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152701.3 +1 reviewed p.K2476N 0.003 113 0% 56 28.6% 0 - benign(0.039) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48319256 48319256 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152701.3 +1 reviewed p.R2822I 0.000 59 0% 29 37.9% 0 - probably_damaging(0.979) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48353922 48353922 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152701.3 +1 reviewed p.D3259N 0.295 213 0% 127 27.6% 0 - benign(0) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48626783 48626783 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152701.3 +1 reviewed p.E4847K 0.961 49 0% 29 37.9% 0 - possibly_damaging(0.873) - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases C7orf72 100130988 genome.wustl.edu 37 7 50180931 50180931 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000297001 +1 known p.I344 0.001 176 0% 75 17.3% 0 - - - - NULL IKZF1 10320 genome.wustl.edu 37 7 50444433 50444433 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006060.3 +1 validated p.S68Y 1.000 99 0% 106 23.6% 4 0% - - - NULL FIGNL1 63979 genome.wustl.edu 37 7 50513201 50513201 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042762.1 -1 validated p.Q595H 0.002 96 0% 135 28.1% 15 20% benign(0.011) tolerated(0.12) neutral(0.261) HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases DDC 1644 genome.wustl.edu 37 7 50611609 50611609 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000790.3 -1 reviewed p.D59N 0.997 133 0% 89 36% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases GRB10 2887 genome.wustl.edu 37 7 50671773 50671773 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005311.4 -1 reviewed p.R489M 0.999 128 0% 110 31.8% 4 100% benign(0.375) tolerated(0.15) neutral(0.360) superfamily_SH2 domain GRB10 2887 genome.wustl.edu 37 7 50737450 50737450 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005311.4 -1 reviewed p.S158Y 1.000 22 0% 29 27.6% 8 25% probably_damaging(0.961) tolerated(0.33) neutral(0.428) NULL COBL 23242 genome.wustl.edu 37 7 51096895 51096895 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015198.3 -1 validated p.S633Y 0.005 170 0% 156 34.6% 6 83.3% possibly_damaging(0.806) deleterious(0) deleterious(0.748) NULL COBL 23242 genome.wustl.edu 37 7 51261126 51261126 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015198.3 -1 validated p.E136* 1.000 127 0% 91 40.7% 4 25% - - - HMMPfam_Cobl VSTM2A 222008 genome.wustl.edu 37 7 54610435 54610435 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182546.2 +1 validated p.I4 1.000 494 0% 699 32.8% 0 - - - - NULL LANCL2 55915 genome.wustl.edu 37 7 55479744 55479744 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018697.3 +1 validated p.A324T 0.991 50 0% 48 31.2% 37 72.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LANC_like,superfamily_Glyco_trans_6hp SEPT14 346288 genome.wustl.edu 37 7 55874926 55874926 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207366.2 -1 validated p.F281 1.000 191 0% 142 23.9% 0 - - - - HMMPfam_Septin PHKG1 5260 genome.wustl.edu 37 7 56151012 56151012 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006213.3 -1 reviewed p.F169C 1.000 87 0% 141 35.5% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNF479 90827 genome.wustl.edu 37 7 57187988 57187988 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033273.1 -1 provisional p.E378 0.999 126 0% 43 25.6% 0 - - - - superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57188627 57188627 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033273.1 -1 provisional p.V165 0.049 212 0% 95 27.4% 0 - - - - superfamily_SSF57667 ZNF716 441234 genome.wustl.edu 37 7 57522820 57522820 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342727.1 +1 model p.Q70K 0.272 347 0.3% 127 26% 0 - possibly_damaging(0.889) deleterious(0.04) deleterious(0.698) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF716 441234 genome.wustl.edu 37 7 57528797 57528797 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342727.1 +1 model p.E210D 0.992 134 0% 94 23.4% 0 - probably_damaging(0.978) tolerated(0.1) deleterious(0.707) superfamily_C2H2 and C2HC zinc fingers ZNF679 168417 genome.wustl.edu 37 7 63720634 63720634 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153363.2 +1 validated p.F25L 0.499 186 0% 114 29.8% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF679 168417 genome.wustl.edu 37 7 63726790 63726790 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153363.2 +1 validated p.R260K 0.999 64 0% 39 35.9% 0 - benign(0.4) tolerated(0.52) neutral(0.137) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF736 728927 genome.wustl.edu 37 7 63808727 63808727 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000423484 +1 known p.E162 0.000 162 0% 89 33.7% 4 25% - - - superfamily_C2H2 and C2HC zinc fingers ZNF680 340252 genome.wustl.edu 37 7 63981855 63981855 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178558.4 -1 validated p.R426I 0.956 45 0% 34 35.3% 18 66.6% benign(0) tolerated(0.27) neutral(0.034) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF680 340252 genome.wustl.edu 37 7 63982828 63982828 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178558.4 -1 validated p.D102Y 0.008 104 0% 52 32.7% 7 71.4% probably_damaging(0.983) deleterious(0.03) deleterious(0.793) NULL ZNF107 51427 genome.wustl.edu 37 7 64167646 64167646 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013746.1 +1 validated p.L322I 1.000 48 0% 32 37.5% 2 50% possibly_damaging(0.516) deleterious(0) deleterious(0.618) superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64168458 64168458 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013746.1 +1 validated p.F592L 0.000 54 0% 57 50.9% 3 66.6% unknown(0) tolerated(0.66) - superfamily_SSF57667 ZNF138 7697 genome.wustl.edu 37 7 64292059 64292059 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006524.2 +1 validated p.V90I 0.049 111 0% 76 15.8% 2 0% possibly_damaging(0.56) tolerated(0.18) neutral(0.247) NULL ZNF273 10793 genome.wustl.edu 37 7 64388284 64388284 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021148.2 +1 reviewed p.S193* 0.000 134 0% 96 41.7% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF117 51351 genome.wustl.edu 37 7 64439479 64439479 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015852.3 -1 validated p.R157I 0.857 126 0% 88 21.6% 2 50% benign(0.26) tolerated(0.07) neutral(0.346) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ERV3-1 2086 genome.wustl.edu 37 7 64452264 64452264 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007253.3 -1 reviewed p.S381R 0.715 131 0% 96 32.3% 27 25.9% benign(0.359) deleterious(0.01) deleterious(0.520) NULL ENSG00000245043 0 genome.wustl.edu 37 7 64539062 64539062 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000501153 -1 known NULL 0.998 40 0% 80 23.7% 1 0% - - - - RABGEF1 27342 genome.wustl.edu 37 7 66248761 66248761 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014504.2 +1 validated p.F149S 1.000 92 0% 34 14.7% 7 14.2% benign(0.069) deleterious(0.04) neutral(0.353) superfamily_SSF109993 WBSCR17 64409 genome.wustl.edu 37 7 70800692 70800692 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022479.1 +1 reviewed p.R132H 1.000 58 0% 25 36% 5 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Nucleotide-diphospho-sugar transferases POM121 9883 genome.wustl.edu 37 7 72413356 72413356 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172020.1 +1 reviewed p.N677D 0.000 136 0% 232 16.8% 34 0% possibly_damaging(0.609) tolerated(0.41) neutral(0.226) NULL FZD9 8326 genome.wustl.edu 37 7 72849726 72849726 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003508.2 +1 reviewed p.I463 0.909 73 0% 110 28.2% 0 - - - - HMMPfam_Frizzled MLXIPL 51085 genome.wustl.edu 37 7 73014021 73014021 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032951.2 -1 reviewed p.F302L 1.000 101 0% 155 26.5% 4 25% benign(0.029) tolerated(1) neutral(0.002) NULL EIF4H 7458 genome.wustl.edu 37 7 73604022 73604022 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022170.1 +1 reviewed p.F89 0.989 218 0% 239 38.9% 104 39.4% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD LAT2 7462 genome.wustl.edu 37 7 73638055 73638055 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014146.3 +1 reviewed p.D130 0.915 54 0% 63 31.7% 8 0% - - - NULL GTF2IRD2B 389524 genome.wustl.edu 37 7 74563564 74563564 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001003795.2 +1 reviewed p.F437L 1.000 329 0.3% 369 28.2% 6 33.3% benign(0.094) tolerated(0.25) neutral(0.044) NULL POR 5447 genome.wustl.edu 37 7 75615099 75615099 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000941.2 +1 reviewed p.V534A 1.000 20 0% 48 29.2% 196 50% possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain STYXL1 51657 genome.wustl.edu 37 7 75643072 75643072 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016086.2 -1 validated p.I147 1.000 70 0% 48 33.3% 16 43.7% - - - superfamily_Rhodanese/Cell cycle control phosphatase SRCRB4D 136853 genome.wustl.edu 37 7 76028047 76028047 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080744.1 -1 provisional p.P181 0.899 288 0% 484 30.2% 0 - - - - NULL DTX2 113878 genome.wustl.edu 37 7 76132882 76132882 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102594.1 +1 validated p.Y510F 1.000 36 0% 76 42.1% 44 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL POMZP3 22932 genome.wustl.edu 37 7 76247632 76247632 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000454397 -1 known p.F176L 0.000 216 0% 261 20.3% 0 - benign(0.131) tolerated(0.35) neutral(0.032) NULL CCDC146 57639 genome.wustl.edu 37 7 76885680 76885680 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020879.2 +1 validated p.E180* 1.000 50 0% 79 24.1% 0 - - - - NULL PION 54103 genome.wustl.edu 37 7 77026703 77026703 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017439.3 -1 validated p.Q91H 1.000 71 0% 21 23.8% 2 50% unknown(0) - - NULL PTPN12 5782 genome.wustl.edu 37 7 77236596 77236596 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002835.3 +1 reviewed p.T247M 1.000 290 0% 199 29.1% 32 31.2% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPN12 5782 genome.wustl.edu 37 7 77240104 77240104 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002835.3 +1 reviewed p.V262A 1.000 66 0% 50 40% 16 62.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPN12 5782 genome.wustl.edu 37 7 77256956 77256956 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002835.3 +1 reviewed p.N654D 0.996 62 0% 35 42.9% 60 35% benign(0) tolerated(0.88) - NULL RSBN1L 222194 genome.wustl.edu 37 7 77365774 77365774 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198467.2 +1 validated p.E212* 0.991 146 0% 95 37.9% 4 0% - - - NULL MAGI2 9863 genome.wustl.edu 37 7 77814974 77814974 + Frame_Shift_Del DEL G G - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012301.3 -1 reviewed p.R762fs 1.000 - - - - - - - - - superfamily_PDZ domain-like MAGI2 9863 genome.wustl.edu 37 7 77824254 77824255 + Frame_Shift_Ins INS - - A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012301.3 -1 reviewed p.D735fs 1.000:1.000 - - - - - - - - - NULL CD36 948 genome.wustl.edu 37 7 80292419 80292419 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000072.3 +1 reviewed p.G181 0.993 355 0% 150 30% 2 0% - - - HMMPfam_CD36 CD36 948 genome.wustl.edu 37 7 80302711 80302711 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000072.3 +1 reviewed p.L414I 0.987 104 0% 41 29.3% 3 0% benign(0.019) deleterious(0.03) neutral(0.365) HMMPfam_CD36 HGF 3082 genome.wustl.edu 37 7 81339547 81339547 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000601.4 -1 reviewed p.S486Y 1.000 162 0% 62 30.6% 2 0% possibly_damaging(0.834) deleterious(0.02) deleterious(0.701) NULL HGF 3082 genome.wustl.edu 37 7 81346675 81346675 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000601.4 -1 reviewed p.I426 0.998 137 0% 96 26% 1 0% - - - HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like HGF 3082 genome.wustl.edu 37 7 81372747 81372747 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000601.4 -1 reviewed p.P263S 1.000 68 0% 24 37.5% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like,PatternScan_KRINGLE_1 CACNA2D1 781 genome.wustl.edu 37 7 81591263 81591263 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000722.2 -1 reviewed p.F971 1.000 167 0% 70 41.4% 1 0% - - - NULL CACNA2D1 781 genome.wustl.edu 37 7 81636999 81636999 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000722.2 -1 reviewed p.L479S 0.990 119 0% 57 36.8% 0 - benign(0.004) tolerated(0.74) neutral(0.002) HMMPfam_Cache_1 PCLO 27445 genome.wustl.edu 37 7 82508666 82508666 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000426442 -1 known p.G825E 1.000 254 0% 92 30.4% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PCLO 27445 genome.wustl.edu 37 7 82545312 82545312 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033026.5 -1 validated p.F3997C 0.998 217 0% 141 28.4% 0 - possibly_damaging(0.846) deleterious(0) deleterious(0.770) NULL PCLO 27445 genome.wustl.edu 37 7 82545906 82545906 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033026.5 -1 validated p.R3799Q 0.994 299 0% 241 33.2% 2 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PCLO 27445 genome.wustl.edu 37 7 82579553 82579553 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033026.5 -1 validated p.D3451Y 1.000 239 0% 160 30% 1 100% possibly_damaging(0.924) - - NULL PCLO 27445 genome.wustl.edu 37 7 82580472 82580472 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033026.5 -1 validated p.F3144L 1.000 91 0% 53 34% 0 - possibly_damaging(0.94) - - NULL PCLO 27445 genome.wustl.edu 37 7 82583642 82583642 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033026.5 -1 validated p.V2209 0.996 143 0% 79 35.4% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82584511 82584511 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033026.5 -1 validated p.E1920* 1.000 131 0% 79 35.4% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82585306 82585306 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033026.5 -1 validated p.E1655K 1.000 194 0% 122 34.4% 1 0% probably_damaging(0.971) - - NULL PCLO 27445 genome.wustl.edu 37 7 82785548 82785548 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033026.5 -1 validated p.E137* 1.000 155 0% 181 28.7% 0 - - - - NULL SEMA3E 9723 genome.wustl.edu 37 7 82997293 82997293 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012431.2 -1 reviewed p.K646T 0.000 117 0% 149 34.2% 198 94.9% benign(0.062) tolerated(0.36) neutral(0.024) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 SEMA3E 9723 genome.wustl.edu 37 7 83026004 83026004 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012431.2 -1 reviewed p.E470* 1.000 238 0% 88 29.5% 63 3.1% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SEMA3D 223117 genome.wustl.edu 37 7 84628806 84628806 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152754.2 -1 validated p.R762* 0.745 262 0% 183 35.5% 3 66.6% - - - NULL SEMA3D 223117 genome.wustl.edu 37 7 84629133 84629133 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152754.2 -1 validated p.R653* 1.000 108 0% 69 31.9% 0 - - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 GRM3 2913 genome.wustl.edu 37 7 86469030 86469030 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000840.2 +1 reviewed p.D734Y 1.000 111 0% 59 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_3 KIAA1324L 222223 genome.wustl.edu 37 7 86537771 86537771 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142749.2 -1 validated p.F816L 1.000 259 0% 90 32.2% 0 - possibly_damaging(0.792) deleterious(0.01) deleterious(0.703) superfamily_Mannose 6-phosphate receptor domain ABCB4 5244 genome.wustl.edu 37 7 87031541 87031541 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000440025 -1 known p.E49* 1.000 158 0% 74 25.7% 13 0% benign(0.412) deleterious(0.04) deleterious(0.482) superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB4 5244 genome.wustl.edu 37 7 87082336 87082336 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018849.2 -1 reviewed p.F154V 1.000 89 0% 45 33.3% 1 0% benign(0.183) deleterious(0.05) neutral(0.362) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87168607 87168607 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000927.3 -1 reviewed p.V792I 1.000 78 0% 43 34.9% 12 50% benign(0.004) deleterious(0.01) neutral(0.406) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87174212 87174212 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000927.3 -1 reviewed p.R664I 0.998 178 0% 121 29.8% 11 36.3% benign(0.003) deleterious(0.01) neutral(0.406) NULL ABCB1 5243 genome.wustl.edu 37 7 87180088 87180088 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000927.3 -1 reviewed p.A356S 1.000 176 0% 121 32.2% 7 57.1% benign(0.002) tolerated(0.24) neutral(0.037) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87183085 87183085 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000927.3 -1 reviewed p.V331L 0.998 173 0% 84 22.6% 4 25% benign(0.06) tolerated(0.89) neutral(0.004) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87229459 87229459 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000927.3 -1 reviewed p.K14N 0.046 208 0% 313 33.5% 7 42.8% unknown(0) - - NULL ADAM22 53616 genome.wustl.edu 37 7 87757920 87757920 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021723.2 +1 reviewed p.R228C 0.998 194 0% 70 32.9% 0 - possibly_damaging(0.905) deleterious(0.04) deleterious(0.708) NULL ADAM22 53616 genome.wustl.edu 37 7 87757921 87757921 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021723.2 +1 reviewed p.R228H 0.833 198 0% 72 26.4% 0 - benign(0.006) tolerated(0.06) neutral(0.323) NULL STEAP4 79689 genome.wustl.edu 37 7 87911932 87911932 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000414498 -1 known p.F336L 0.000 44 0% 25 28% 0 - unknown(0) - - NULL STEAP4 79689 genome.wustl.edu 37 7 87912206 87912206 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024636.2 -1 validated p.R245L 0.959 103 0% 50 34% 0 - possibly_damaging(0.848) deleterious(0.02) deleterious(0.709) NULL STEAP2 261729 genome.wustl.edu 37 7 89854884 89854884 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040665.1 +1 reviewed p.R163Q 1.000 45 0% 21 28.6% 6 16.6% benign(0.4) deleterious(0.02) deleterious(0.512) HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains GTPBP10 85865 genome.wustl.edu 37 7 89982285 89982285 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033107.2 +1 validated p.P63 0.995 207 0% 175 30.3% 10 20% - - - HMMPfam_GTP1_OBG,superfamily_Obg GTP-binding protein N-terminal domain CLDN12 9069 genome.wustl.edu 37 7 90042576 90042576 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012129.3 +1 validated p.Y196H 1.000 100 0% 65 43.1% 21 47.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MTERF 7978 genome.wustl.edu 37 7 91509378 91509378 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006980.3 -1 validated p.G7E 0.143 86 0% 128 39.1% 6 0% benign(0) tolerated(0.48) neutral(0.011) NULL AKAP9 10142 genome.wustl.edu 37 7 91631434 91631434 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005751.4 +1 reviewed p.E735* 1.000 26 0% 16 25% 0 - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91667978 91667978 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005751.4 +1 reviewed p.I1528M 0.020 62 0% 38 31.6% 2 50% benign(0.002) tolerated(0.41) neutral(0.015) NULL ENSG00000240720 0 genome.wustl.edu 37 7 91775510 91775510 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000430130 -1 known p.K761N 1.000 255 0.4% 369 29.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ENSG00000240720 0 genome.wustl.edu 37 7 91779857 91779857 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000430130 -1 known p.E757* 1.000 212 0% 243 28.4% 0 - - - - NULL ENSG00000240720 0 genome.wustl.edu 37 7 91779988 91779988 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000430130 -1 known p.P713H 0.998 137 0% 132 29.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like ENSG00000240720 0 genome.wustl.edu 37 7 91788385 91788385 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000430130 -1 known p.N684H 1.000 279 0% 160 25.6% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like ENSG00000240720 0 genome.wustl.edu 37 7 91793289 91793289 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000430130 -1 known p.L410I 0.976 96 0% 55 30.9% 0 - possibly_damaging(0.553) tolerated(0.06) deleterious(0.511) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like KRIT1 889 genome.wustl.edu 37 7 91864219 91864219 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004912.3 -1 reviewed p.N250H 1.000 248 0% 173 31.8% 5 40% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PEX1 5189 genome.wustl.edu 37 7 92147349 92147349 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000466.2 -1 reviewed p.L160 0.003 81 0% 41 34.1% 6 50% - - - superfamily_ADC-like,HMMPfam_PEX-1N SAMD9 54809 genome.wustl.edu 37 7 92733472 92733472 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017654.2 -1 validated p.D647Y 0.998 130 0% 86 25.6% 0 - possibly_damaging(0.677) deleterious(0.02) deleterious(0.624) NULL SAMD9 54809 genome.wustl.edu 37 7 92734978 92734978 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017654.2 -1 validated p.D145Y 0.002 272 0% 269 27.1% 0 - possibly_damaging(0.896) deleterious(0.01) deleterious(0.759) NULL SAMD9 54809 genome.wustl.edu 37 7 92735165 92735165 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017654.2 -1 validated p.S82 0.000 296 0% 303 26.1% 2 0% - - - superfamily_SAM_homology SAMD9L 219285 genome.wustl.edu 37 7 92761792 92761792 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152703.2 -1 validated p.E1165K 0.658 80 0% 13 38.5% 13 38.4% benign(0.001) tolerated(0.19) neutral(0.050) NULL SAMD9L 219285 genome.wustl.edu 37 7 92762824 92762824 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152703.2 -1 validated p.V821I 0.000 103 0% 34 23.5% 9 22.2% benign(0) tolerated(0.69) neutral(0.002) NULL SAMD9L 219285 genome.wustl.edu 37 7 92763219 92763219 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152703.2 -1 validated p.R689Q 1.000 60 0% 18 27.8% 8 12.5% probably_damaging(0.988) tolerated(0.06) deleterious(0.760) NULL SAMD9L 219285 genome.wustl.edu 37 7 92764177 92764177 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152703.2 -1 validated p.L370V 0.004 106 0% 49 40.8% 5 40% benign(0.052) tolerated(0.08) neutral(0.303) NULL SAMD9L 219285 genome.wustl.edu 37 7 92764442 92764442 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152703.2 -1 validated p.K281N 0.806 65 0% 24 41.7% 6 0% possibly_damaging(0.839) deleterious(0.01) deleterious(0.726) NULL SAMD9L 219285 genome.wustl.edu 37 7 92764617 92764617 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152703.2 -1 validated p.R223Q 1.000 116 0% 47 40.4% 16 37.5% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL HEPACAM2 253012 genome.wustl.edu 37 7 92826831 92826831 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039372.1 -1 provisional p.L369I 0.471 149 0% 43 34.9% 1 100% possibly_damaging(0.873) deleterious(0.04) deleterious(0.688) NULL CCDC132 55610 genome.wustl.edu 37 7 92861797 92861797 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017667.2 +1 validated p.S6Y 1.000 73 0% 32 18.8% 1 100% benign(0.303) deleterious(0) deleterious(0.538) NULL CCDC132 55610 genome.wustl.edu 37 7 92935205 92935205 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000458707 +1 known p.L293R 0.008 140 0% 72 29.2% 18 61.1% - - - NULL CCDC132 55610 genome.wustl.edu 37 7 92983000 92983000 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017667.2 +1 validated p.R838C 1.000 194 0.5% 106 31.1% 40 40% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_DUF2451 COL1A2 1278 genome.wustl.edu 37 7 94029532 94029532 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000089.3 +1 reviewed p.D53Y 1.000 77 0% 108 18.5% 138 0% unknown(0) deleterious(0) - HMMPfam_Collagen COL1A2 1278 genome.wustl.edu 37 7 94041910 94041910 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000089.3 +1 reviewed p.I473 0.004 57 0% 57 35.1% 156 0% - - - HMMPfam_Collagen COL1A2 1278 genome.wustl.edu 37 7 94044541 94044541 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000089.3 +1 reviewed p.L575I 1.000 362 0% 264 31.1% 154 0% unknown(0) tolerated(0.55) - HMMPfam_Collagen COL1A2 1278 genome.wustl.edu 37 7 94052354 94052354 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000089.3 +1 reviewed p.R830Q 1.000 111 0% 82 29.3% 282 0% unknown(0) tolerated(0.12) - HMMPfam_Collagen CASD1 64921 genome.wustl.edu 37 7 94164638 94164638 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022900.4 +1 validated p.L216I 0.598 106 0% 42 38.1% 5 40% benign(0.006) tolerated(0.18) neutral(0.056) NULL PEG10 23089 genome.wustl.edu 37 7 94293414 94293414 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040152.1 +1 reviewed p.I182 0.009 33 0% 66 28.8% 1 0% - - - HMMPfam_Retrotrans_gag PPP1R9A 55607 genome.wustl.edu 37 7 94919498 94919498 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017650.2 +1 validated p.E1060D 1.000 139 0% 74 25.7% 7 71.4% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL PON3 5446 genome.wustl.edu 37 7 95023989 95023989 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000940.2 -1 reviewed p.E38K 0.688 121 0% 216 28.7% 0 - benign(0.002) tolerated(0.21) neutral(0.044) superfamily_Calcium-dependent phosphotriesterase DYNC1I1 1780 genome.wustl.edu 37 7 95662061 95662061 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004411.4 +1 validated p.S417F 1.000 218 0% 60 40% 0 - possibly_damaging(0.9) deleterious(0) deleterious(0.801) HMMSmart_SM00320,superfamily_WD40 repeat-like ACN9 57001 genome.wustl.edu 37 7 96810337 96810337 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020186.2 +1 validated p.A63V 0.228 124 0% 125 27.2% 99 31.3% benign(0) tolerated(0.57) neutral(0.006) HMMPfam_ACN9 TAC1 6863 genome.wustl.edu 37 7 97364151 97364151 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003182.2 +1 reviewed p.I93 0.929 80 0% 151 31.1% 2 0% - - - NULL ASNS 440 genome.wustl.edu 37 7 97482428 97482428 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001673.4 -1 reviewed p.I474L 0.388 89 0% 58 15.5% 115 30.4% benign(0) tolerated(0.2) neutral(0.049) superfamily_SSF52402 LMTK2 22853 genome.wustl.edu 37 7 97766742 97766742 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014916.3 +1 reviewed p.E73D 1.000 120 0% 74 33.8% 2 50% probably_damaging(0.999) tolerated(0.2) deleterious(0.539) NULL BAIAP2L1 55971 genome.wustl.edu 37 7 97939785 97939785 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018842.4 -1 reviewed p.P309 0.018 173 0% 194 37.6% 18 72.2% - - - NULL TRRAP 8295 genome.wustl.edu 37 7 98529082 98529082 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003496.2 +1 validated p.R1216W 1.000 45 0% 34 23.5% 10 40% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_ARM repeat TRRAP 8295 genome.wustl.edu 37 7 98533284 98533284 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003496.2 +1 validated p.R1366Q 1.000 144 0% 154 31.2% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat TRRAP 8295 genome.wustl.edu 37 7 98565207 98565207 + Nonsense_Mutation SNP C C A rs139721649 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000456197 +1 known p.S2181* 0.896 53 0% 55 29.1% 15 46.6% probably_damaging(0.989) tolerated(0.17) deleterious(0.498) superfamily_ARM repeat TRRAP 8295 genome.wustl.edu 37 7 98581920 98581920 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003496.2 +1 validated p.R3051Q 1.000 75 0% 79 30.4% 48 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FAT,superfamily_ARM repeat,superfamily_Protein prenylyltransferase,superfamily_TPR-like TRRAP 8295 genome.wustl.edu 37 7 98609882 98609882 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000456197 +1 known p.S3557L 0.502 48 0% 83 27.7% 105 48.5% - - - HMMSmart_SM00146 SMURF1 57154 genome.wustl.edu 37 7 98645414 98645414 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020429.1 -1 reviewed p.E375K 1.000 105 0% 101 25.7% 14 35.7% benign(0) tolerated(1) - NULL KPNA7 402569 genome.wustl.edu 37 7 98775622 98775622 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145715.1 -1 validated p.R462K 0.721 215 0% 146 37.7% 0 - benign(0) tolerated(1) - superfamily_ARM-type_fold KPNA7 402569 genome.wustl.edu 37 7 98775681 98775681 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145715.1 -1 validated p.E442D 0.995 139 0% 117 31.6% 0 - benign(0) tolerated(0.28) neutral(0.032) superfamily_ARM-type_fold ARPC1B 10095 genome.wustl.edu 37 7 98988709 98988709 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005720.2 +1 reviewed p.D232N 0.259 35 0% 73 11% 447 2.6% benign(0) tolerated(0.59) neutral(0.004) superfamily_WD40 repeat-like FAM200A 221786 genome.wustl.edu 37 7 99145599 99145599 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145111.2 -1 validated p.L144 0.798 108 0% 169 32% 12 58.3% - - - NULL FAM200A 221786 genome.wustl.edu 37 7 99145681 99145681 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145111.2 -1 validated p.R117H 0.998 138 0% 194 29.4% 6 0% benign(0.371) tolerated(0.25) neutral(0.155) NULL ZNF655 79027 genome.wustl.edu 37 7 99161622 99161622 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001085367.1 +1 reviewed p.K162N 0.999 146 0.7% 142 27.5% 18 5.5% unknown(0) deleterious(0.02) - NULL CYP3A5 1577 genome.wustl.edu 37 7 99250280 99250280 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000777.2 -1 reviewed p.I383 0.904 205 0% 98 29.6% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP3A7 1551 genome.wustl.edu 37 7 99306675 99306675 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000765.3 -1 reviewed p.E412D 0.955 189 0% 61 21.3% 1 0% benign(0.001) tolerated(0.09) neutral(0.296) HMMPfam_p450,superfamily_Cytochrome_P450 CYP3A7 1551 genome.wustl.edu 37 7 99332677 99332677 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000765.3 -1 reviewed p.L14I 0.005 182 0% 87 43.7% 0 - possibly_damaging(0.533) deleterious(0.01) deleterious(0.586) NULL CYP3A43 64816 genome.wustl.edu 37 7 99441836 99441836 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022820.3 +1 reviewed p.E97* 1.000 151 0% 70 28.6% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 ZKSCAN1 7586 genome.wustl.edu 37 7 99631261 99631261 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003439.1 +1 validated p.R378I 0.029 132 0% 96 35.4% 19 47.3% benign(0.039) deleterious(0.05) neutral(0.347) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TAF6 6878 genome.wustl.edu 37 7 99708886 99708886 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005641.2 -1 reviewed p.R320Q 1.000 151 0% 219 28.3% 76 40.7% possibly_damaging(0.927) deleterious(0.03) deleterious(0.740) HMMPfam_DUF1546 TAF6 6878 genome.wustl.edu 37 7 99711818 99711818 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005641.2 -1 reviewed p.K5N 1.000 83 0% 159 40.3% 36 36.1% benign(0.15) tolerated(0.36) neutral(0.033) NULL GPC2 221914 genome.wustl.edu 37 7 99768019 99768019 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152742.1 -1 provisional p.R525Q 0.995 40 0% 79 26.6% 0 - probably_damaging(0.994) tolerated(0.11) deleterious(0.724) HMMPfam_Glypican PILRB 29990 genome.wustl.edu 37 7 99956426 99956426 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013440.3 +1 reviewed p.E60* 0.000 130 0% 214 30.8% 61 52.4% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MEPCE 56257 genome.wustl.edu 37 7 100028961 100028961 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019606.4 +1 provisional p.E440 1.000 89 0% 164 32.9% 57 45.6% - - - superfamily_SSF53335 MEPCE 56257 genome.wustl.edu 37 7 100030735 100030735 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019606.4 +1 provisional p.S622L 0.843 41 0% 75 17.3% 68 36.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bin3,superfamily_SSF53335 TSC22D4 81628 genome.wustl.edu 37 7 100075294 100075294 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030935.3 -1 provisional p.S123Y 0.868 15 0% 25 36% 38 36.8% possibly_damaging(0.887) deleterious(0) deleterious(0.791) NULL AGFG2 3268 genome.wustl.edu 37 7 100148030 100148030 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006076.4 +1 reviewed p.K109N 1.000 264 0% 194 36.6% 21 42.8% possibly_damaging(0.598) tolerated(0.08) deleterious(0.507) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain FBXO24 26261 genome.wustl.edu 37 7 100187830 100187830 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033506.2 +1 reviewed p.D58N 1.000 49 0% 79 36.7% 0 - benign(0.366) deleterious(0) deleterious(0.561) HMMPfam_F-box,HMMSmart_SM00256,superfamily_F-box domain PCOLCE 5118 genome.wustl.edu 37 7 100205145 100205145 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002593.3 +1 reviewed p.L337 0.984 172 0% 275 32.4% 375 40% - - - superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643 ACTL6B 51412 genome.wustl.edu 37 7 100253132 100253132 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016188.4 -1 reviewed p.K60N 1.000 132 0% 235 34% 0 - benign(0) tolerated(0.32) neutral(0.024) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 GNB2 2783 genome.wustl.edu 37 7 100275169 100275169 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005273.3 +1 reviewed p.A106T 1.000 27 0% 49 34.7% 483 40.1% benign(0.276) deleterious(0) deleterious(0.474) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GIGYF1 64599 genome.wustl.edu 37 7 100280938 100280938 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022574.4 -1 validated p.R728W 1.000 55 1.8% 76 21.1% 63 26.9% unknown(0) deleterious(0.01) - NULL POP7 10248 genome.wustl.edu 37 7 100304659 100304659 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005837.2 +1 validated p.I69T 1.000 39 0% 60 33.3% 127 40.1% possibly_damaging(0.677) deleterious(0.01) deleterious(0.647) HMMPfam_Alba,superfamily_AlbA-like ZAN 7455 genome.wustl.edu 37 7 100364782 100364782 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003386.1 +1 reviewed p.E1588K 0.941 50 0% 57 31.6% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_VWD,HMMSmart_SM00216 ZAN 7455 genome.wustl.edu 37 7 100373124 100373124 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003386.1 +1 reviewed p.L1985F 0.014 49 0% 68 20.6% 0 - unknown(0) tolerated(0.81) - NULL ZAN 7455 genome.wustl.edu 37 7 100382413 100382413 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003386.1 +1 reviewed p.E2264* 0.014 84 0% 91 37.4% 0 - - - - NULL ZAN 7455 genome.wustl.edu 37 7 100385679 100385679 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003386.1 +1 reviewed p.G2383* 0.000 51 0% 95 10.5% 0 - - - - NULL EPHB4 2050 genome.wustl.edu 37 7 100401164 100401164 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004444.4 -1 reviewed p.I961 1.000 91 0% 72 29.2% 23 60.8% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain SLC12A9 56996 genome.wustl.edu 37 7 100463379 100463379 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020246.2 +1 validated p.D633N 1.000 37 0% 66 45.5% 37 35.1% probably_damaging(1) tolerated(0.25) deleterious(0.537) NULL SLC12A9 56996 genome.wustl.edu 37 7 100463561 100463561 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020246.2 +1 validated p.M693I 1.000 13 0% 29 31% 11 27.2% possibly_damaging(0.867) tolerated(0.07) deleterious(0.655) NULL TRIP6 7205 genome.wustl.edu 37 7 100468075 100468075 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000429658 +1 known p.G47V 1.000 105 0% 131 27.5% 68 4.4% - - - NULL MUC12 10071 genome.wustl.edu 37 7 100645678 100645678 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000379442 +1 known p.R4088I 0.000 702 0% 727 11.4% 0 - probably_damaging(0.979) - - NULL MUC12 10071 genome.wustl.edu 37 7 100655679 100655679 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000379442 +1 known p.K5261N 0.018 99 0% 142 26.8% 0 - benign(0.099) - - HMMPfam_SEA,HMMSmart_SEA MUC17 140453 genome.wustl.edu 37 7 100674936 100674936 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040105.1 +1 provisional p.R80K 0.000 102 0% 87 32.2% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100684662 100684662 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040105.1 +1 provisional p.P3322L 0.001 247 0% 162 21% 0 - probably_damaging(0.997) - - NULL MUC17 140453 genome.wustl.edu 37 7 100684724 100684724 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040105.1 +1 provisional p.T3343A 0.008 209 0% 160 34.4% 0 - possibly_damaging(0.857) - - NULL MUC17 140453 genome.wustl.edu 37 7 100684831 100684831 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040105.1 +1 provisional p.S3378 0.000 225 0% 167 30.5% 0 - - - - NULL TRIM56 81844 genome.wustl.edu 37 7 100732537 100732537 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030961.1 +1 provisional p.F648 0.018 124 0.8% 203 29.6% 5 20% - - - superfamily_NHL repeat MOGAT3 346606 genome.wustl.edu 37 7 100841522 100841522 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178176.2 -1 provisional p.C206 0.000 18 0% 32 18.8% 0 - - - - HMMPfam_DAGAT PLOD3 8985 genome.wustl.edu 37 7 100853821 100853821 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001084.4 -1 reviewed p.R498* 0.594 65 0% 111 29.7% 42 0% - - - NULL CUX1 1523 genome.wustl.edu 37 7 101840066 101840066 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181552.2 +1 reviewed p.D459Y 1.000 54 0% 99 23.2% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CUX1 1523 genome.wustl.edu 37 7 101845354 101845354 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181552.2 +1 reviewed p.S926L 0.995 102 0% 156 29.5% 10 40% probably_damaging(0.98) tolerated(0.12) deleterious(0.684) NULL ORAI2 80228 genome.wustl.edu 37 7 102087064 102087064 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001126340.1 +1 validated p.F110 0.987 46 0% 64 31.2% 39 30.7% - - - HMMPfam_DUF1650 LRWD1 222229 genome.wustl.edu 37 7 102110226 102110226 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152892.1 +1 provisional p.R447C 1.000 49 0% 74 32.4% 49 36.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_WD40_like PMPCB 9512 genome.wustl.edu 37 7 102950918 102950918 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004279.2 +1 reviewed p.E384* 1.000 84 0% 48 37.5% 104 15.3% - - - HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd DNAJC2 27000 genome.wustl.edu 37 7 102964096 102964096 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014377.1 -1 reviewed p.S223Y 1.000 131 0% 87 31% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC26A5 375611 genome.wustl.edu 37 7 103050942 103050942 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198999.2 -1 reviewed p.L209M 0.855 93 0% 37 45.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfate_transp RELN 5649 genome.wustl.edu 37 7 103131232 103131232 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005045.3 -1 reviewed p.S3163F 1.000 150 0% 100 25% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RELN 5649 genome.wustl.edu 37 7 103180737 103180737 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005045.3 -1 reviewed p.E2279D 0.999 36 0% 22 45.5% 0 - possibly_damaging(0.74) tolerated(0.55) neutral(0.278) NULL RELN 5649 genome.wustl.edu 37 7 103243781 103243781 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005045.3 -1 reviewed p.I1101 1.000 93 0% 42 26.2% 0 - - - - NULL RELN 5649 genome.wustl.edu 37 7 103276841 103276841 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005045.3 -1 reviewed p.F715C 1.000 72 0% 37 40.5% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL MLL5 55904 genome.wustl.edu 37 7 104715207 104715207 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018682.3 +1 reviewed p.D225A 1.000 122 0% 111 30.6% 13 53.8% benign(0.394) tolerated(0.21) neutral(0.170) NULL MLL5 55904 genome.wustl.edu 37 7 104748331 104748331 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018682.3 +1 reviewed p.D1143N 0.999 57 0% 22 36.4% 28 28.5% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL MLL5 55904 genome.wustl.edu 37 7 104752568 104752568 + Silent SNP G G A rs181236443 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018682.3 +1 reviewed p.T1455 0.987 129 0% 145 26.2% 79 24% - - - NULL MLL5 55904 genome.wustl.edu 37 7 104753135 104753135 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018682.3 +1 reviewed p.P1644 0.588 137 0% 99 41.4% 74 40.5% - - - NULL EFCAB10 100130771 genome.wustl.edu 37 7 105205682 105205682 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_027068.1 -1 predicted NULL 0.000 56 0% 34 29.4% 0 - - - - - SYPL1 6856 genome.wustl.edu 37 7 105733502 105733502 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006754.2 -1 validated p.I180L 0.002 83 0% 34 41.2% 82 36.5% benign(0.156) tolerated(0.64) neutral(0.017) HMMPfam_MARVEL NAMPT 10135 genome.wustl.edu 37 7 105915425 105915425 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005746.2 -1 reviewed p.V95 1.000 284 0% 262 34.7% 24 45.8% - - - NULL PIK3CG 5294 genome.wustl.edu 37 7 106509544 106509544 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002649.2 +1 reviewed p.S513* 1.000 118 0% 229 36.2% 4 0% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PIK3CG 5294 genome.wustl.edu 37 7 106509911 106509911 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002649.2 +1 reviewed p.F635L 1.000 39 0% 76 35.5% 2 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_ARM repeat DUS4L 11062 genome.wustl.edu 37 7 107215724 107215724 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181581.1 +1 validated p.T150A 0.999 118 0% 156 23.7% 6 50% benign(0.001) tolerated(0.85) neutral(0.001) HMMPfam_Dus,superfamily_FMN-linked oxidoreductases BCAP29 55973 genome.wustl.edu 37 7 107258918 107258918 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008405.2 +1 validated p.F305L 0.012 73 0% 26 30.8% 4 50% unknown(0) - - NULL SLC26A3 1811 genome.wustl.edu 37 7 107414595 107414595 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000111.2 -1 reviewed p.G593* 1.000 209 0% 106 44.3% 0 - - - - HMMPfam_STAS,superfamily_STAS SLC26A3 1811 genome.wustl.edu 37 7 107415298 107415298 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000111.2 -1 reviewed p.R566Q 1.000 170 0% 80 32.5% 0 - probably_damaging(0.995) tolerated(0.1) deleterious(0.744) HMMPfam_STAS,superfamily_STAS SLC26A3 1811 genome.wustl.edu 37 7 107430065 107430065 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000111.2 -1 reviewed p.F213L 1.000 66 1.5% 54 31.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sulfate_transp SLC26A3 1811 genome.wustl.edu 37 7 107434232 107434232 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000111.2 -1 reviewed p.D76Y 1.000 93 0% 58 39.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LAMB1 3912 genome.wustl.edu 37 7 107569535 107569535 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002291.2 -1 reviewed p.Q1621K 1.000 273 0% 189 30.2% 72 23.6% benign(0) tolerated(0.86) neutral(0.001) superfamily_Prefoldin LAMB1 3912 genome.wustl.edu 37 7 107593977 107593977 + Missense_Mutation SNP C C T rs193010498 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002291.2 -1 reviewed p.R1026Q 0.991 75 0% 73 68.5% 52 78.8% probably_damaging(1) tolerated(0.07) deleterious(0.819) PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin DNAJB9 4189 genome.wustl.edu 37 7 108213486 108213486 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012328.1 +1 provisional p.D121Y 1.000 212 0.5% 265 28.3% 16 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Chaperone J-domain IMMP2L 83943 genome.wustl.edu 37 7 110526659 110526659 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032549.2 -1 provisional p.S133Y 1.000 165 0% 70 31.4% 17 29.4% benign(0.055) tolerated(0.11) neutral(0.275) superfamily_LexA/Signal peptidase DOCK4 9732 genome.wustl.edu 37 7 111517199 111517199 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014705.3 -1 reviewed p.K544T 1.000 199 0% 119 26.1% 0 - possibly_damaging(0.616) tolerated(0.52) neutral(0.223) NULL DOCK4 9732 genome.wustl.edu 37 7 111580280 111580280 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014705.3 -1 reviewed p.E288* 1.000 203 0% 133 31.6% 0 - - - - NULL DOCK4 9732 genome.wustl.edu 37 7 111585848 111585848 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014705.3 -1 reviewed p.R236I 1.000 80 0% 29 44.8% 0 - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL ZNF277 11179 genome.wustl.edu 37 7 111982764 111982764 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021994.2 +1 validated p.L445V 0.997 47 0% 22 27.3% 24 41.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL IFRD1 3475 genome.wustl.edu 37 7 112096972 112096972 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007245.1 +1 validated p.A96 0.360 150 0% 153 32.7% 39 33.3% - - - HMMPfam_IFRD,superfamily_ARM repeat ENSG00000247285 0 genome.wustl.edu 37 7 112723647 112723647 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000501255 +1 novel NULL 1.000 34 0% 33 30.3% 1 0% - - - - PPP1R3A 5506 genome.wustl.edu 37 7 113517798 113517798 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002711.3 -1 reviewed p.E1117* 1.000 110 0% 56 19.6% 0 - - - - NULL PPP1R3A 5506 genome.wustl.edu 37 7 113518717 113518717 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002711.3 -1 reviewed p.C810 1.000 161 0% 81 24.7% 0 - - - - NULL PPP1R3A 5506 genome.wustl.edu 37 7 113519786 113519786 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002711.3 -1 reviewed p.P454H 0.000 71 0% 37 27% 0 - benign(0.267) deleterious(0) deleterious(0.473) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113558830 113558830 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002711.3 -1 reviewed p.L74 1.000 83 0% 27 33.3% 0 - - - - NULL FOXP2 93986 genome.wustl.edu 37 7 114299433 114299433 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_148898.2 +1 reviewed p.F522L 1.000 131 0% 36 30.6% 0 - possibly_damaging(0.917) deleterious(0) deleterious(0.812) NULL MDFIC 29969 genome.wustl.edu 37 7 114582432 114582432 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000393486 +1 known p.S66L 0.059 75 0% 45 22.2% 8 25% possibly_damaging(0.837) deleterious(0) deleterious(0.764) NULL MET 4233 genome.wustl.edu 37 7 116339777 116339777 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127500.1 +1 reviewed p.S213 0.000 124 0% 39 15.4% 5 0% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema MET 4233 genome.wustl.edu 37 7 116436064 116436064 + Silent SNP C C T rs45571634 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127500.1 +1 reviewed p.N1371 0.103 105 0% 56 32.1% 20 65% - - - superfamily_Kinase_like ASZ1 136991 genome.wustl.edu 37 7 117022133 117022133 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130768.2 -1 validated p.D293G 1.000 123 0% 40 42.5% 0 - benign(0.001) tolerated(0.4) neutral(0.016) superfamily_SAM_homology,HMMPfam_SAM_2 CFTR 1080 genome.wustl.edu 37 7 117267694 117267694 + Nonsense_Mutation SNP C C A rs121908763 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000492.3 +1 reviewed p.S1196* 0.003 73 0% 18 38.9% 0 - - - - NULL CTTNBP2 83992 genome.wustl.edu 37 7 117407167 117407167 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033427.2 -1 reviewed p.R948W 1.000 121 0% 59 11.9% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Ankyrin repeat CTTNBP2 83992 genome.wustl.edu 37 7 117431532 117431532 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033427.2 -1 reviewed p.S573L 1.000 148 0% 164 33.5% 2 50% benign(0.196) deleterious(0) neutral(0.463) HMMPfam_CortBP2 ANKRD7 56311 genome.wustl.edu 37 7 117864887 117864887 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019644.3 +1 validated p.M1I 1.000 47 0% 38 34.2% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL ANKRD7 56311 genome.wustl.edu 37 7 117880030 117880030 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000417525 +1 known p.G206V 0.000 132 0% 215 34.9% 0 - benign(0.01) deleterious(0) neutral(0.445) NULL KCND2 3751 genome.wustl.edu 37 7 119915425 119915425 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012281.2 +1 reviewed p.R247C 1.000 122 0% 197 30.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels C7orf58 79974 genome.wustl.edu 37 7 120780976 120780976 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024913.4 +1 validated p.E599K 1.000 71 0% 27 33.3% 5 60% probably_damaging(0.982) tolerated(0.08) deleterious(0.726) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121652176 121652176 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002851.2 +1 reviewed p.E1026* 1.000 132 0% 47 27.7% 0 - - - - NULL PTPRZ1 5803 genome.wustl.edu 37 7 121652624 121652624 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002851.2 +1 reviewed p.S1175Y 0.999 197 0% 152 34.9% 0 - possibly_damaging(0.63) deleterious(0) deleterious(0.664) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121652924 121652924 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002851.2 +1 reviewed p.K1275T 0.517 98 0% 34 23.5% 0 - possibly_damaging(0.489) deleterious(0) deleterious(0.607) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121653197 121653197 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002851.2 +1 reviewed p.S1366Y 0.713 147 0% 69 33.3% 0 - benign(0.013) deleterious(0) neutral(0.445) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121679559 121679559 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002851.2 +1 reviewed p.F1852V 0.980 133 0% 82 32.9% 0 - possibly_damaging(0.637) tolerated(0.26) neutral(0.257) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II AASS 10157 genome.wustl.edu 37 7 121766507 121766507 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005763.3 -1 reviewed p.R132C 1.000 253 0% 105 30.5% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AlaDh_PNT_N,superfamily_Formate/glycerate dehydrogenase catalytic domain-like CADPS2 93664 genome.wustl.edu 37 7 122033277 122033277 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017954.10 -1 reviewed p.S994L 1.000 80 0% 67 23.9% 0 - benign(0.001) tolerated(0.08) neutral(0.300) NULL SLC13A1 6561 genome.wustl.edu 37 7 122759259 122759259 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022444.3 -1 validated p.S463Y 0.997 136 0% 79 29.1% 0 - benign(0.223) tolerated(0.37) neutral(0.041) HMMPfam_Na_sulph_symp LMOD2 442721 genome.wustl.edu 37 7 123296065 123296065 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207163.1 +1 validated p.I16 0.942 32 0% 16 62.5% 0 - - - - NULL LMOD2 442721 genome.wustl.edu 37 7 123302625 123302625 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207163.1 +1 validated p.L329M 0.981 43 0% 16 43.8% 0 - benign(0.195) deleterious(0) neutral(0.463) HMMPfam_Tropomodulin,superfamily_RNI-like LMOD2 442721 genome.wustl.edu 37 7 123302777 123302777 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207163.1 +1 validated p.V379 1.000 74 0% 50 30% 0 - - - - NULL WASL 8976 genome.wustl.edu 37 7 123334886 123334886 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003941.2 -1 reviewed p.D237N 1.000 149 0% 198 33.8% 16 56.2% benign(0.144) tolerated(0.52) neutral(0.021) HMMPfam_PBD,HMMSmart_PBD,superfamily_WASP_C TMEM229A 730130 genome.wustl.edu 37 7 123672024 123672024 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136002.1 -1 validated p.F345C 1.000 32 0% 70 34.3% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL TMEM229A 730130 genome.wustl.edu 37 7 123672325 123672325 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136002.1 -1 validated p.L245I 1.000 24 0% 54 31.5% 0 - benign(0.232) tolerated(0.1) neutral(0.309) NULL POT1 25913 genome.wustl.edu 37 7 124491994 124491994 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015450.2 -1 reviewed p.S294Y 0.996 87 0% 65 36.9% 15 53.3% probably_damaging(0.99) tolerated(0.31) deleterious(0.469) NULL GCC1 79571 genome.wustl.edu 37 7 127222277 127222277 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024523.5 -1 reviewed p.E707K 0.926 219 0% 283 32.2% 20 50% benign(0) tolerated(0.81) neutral(0.001) NULL FSCN3 29999 genome.wustl.edu 37 7 127235549 127235549 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020369.1 +1 provisional p.I111 0.583 104 0% 97 37.1% 0 - - - - superfamily_Actin_crosslink,HMMPfam_Fascin FSCN3 29999 genome.wustl.edu 37 7 127235810 127235810 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020369.1 +1 provisional p.F198L 0.995 165 0% 175 32.6% 1 100% probably_damaging(0.974) tolerated(0.17) deleterious(0.475) superfamily_Actin_crosslink PRRT4 401399 genome.wustl.edu 37 7 127992669 127992669 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114726.2 -1 validated p.S314L 0.028 168 0% 306 29.7% 0 - benign(0.362) deleterious(0.01) deleterious(0.521) NULL PRRT4 401399 genome.wustl.edu 37 7 127999462 127999462 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114726.2 -1 validated p.R195Q 0.636 42 0% 58 25.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FLNC 2318 genome.wustl.edu 37 7 128471031 128471031 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001458.4 +1 reviewed p.L114F 1.000 14 0% 28 53.6% 1 0% possibly_damaging(0.622) deleterious(0.01) deleterious(0.623) PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain FLNC 2318 genome.wustl.edu 37 7 128477557 128477557 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001458.4 +1 reviewed p.R269* 0.990 107 0% 200 29.5% 0 - - - - NULL FLNC 2318 genome.wustl.edu 37 7 128490963 128490963 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001458.4 +1 reviewed p.Q1835H 1.000 44 0% 53 32.1% 2 0% benign(0.002) tolerated(0.34) neutral(0.023) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128494583 128494583 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001458.4 +1 reviewed p.E2282K 1.000 26 0% 34 35.3% 6 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin TNPO3 23534 genome.wustl.edu 37 7 128597314 128597314 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012470.2 -1 validated p.R923* 1.000 141 0% 139 30.9% 65 46.1% - - - NULL TNPO3 23534 genome.wustl.edu 37 7 128622338 128622338 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012470.2 -1 validated p.P608H 1.000 107 0% 60 33.3% 60 38.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_ARM repeat FAM40B 57464 genome.wustl.edu 37 7 129100212 129100212 + Nonsense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020704.2 +1 validated p.L492* 0.999 79 0% 81 23.5% 8 25% - - - NULL CPA5 93979 genome.wustl.edu 37 7 130002327 130002327 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127441.1 +1 validated p.I195L 0.998 68 0% 46 30.4% 0 - benign(0.038) deleterious(0.04) neutral(0.351) HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Zn-dependent exopeptidases ENSG00000245606 0 genome.wustl.edu 37 7 130008537 130008537 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000501661 -1 known NULL 0.001 36 0% 39 41% 0 - - - - - MKLN1 4289 genome.wustl.edu 37 7 131130592 131130592 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013255.4 +1 validated p.F485L 1.000 388 0.3% 317 30.6% 14 64.2% benign(0.054) tolerated(0.25) neutral(0.041) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain PLXNA4 91584 genome.wustl.edu 37 7 131859571 131859571 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020911.1 -1 validated p.G1328E 1.000 67 0% 79 34.2% 6 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Plexin_cytopl PLXNA4 91584 genome.wustl.edu 37 7 131883320 131883320 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020911.1 -1 validated p.R888C 1.000 90 0% 74 33.8% 2 100% possibly_damaging(0.456) deleterious(0.01) deleterious(0.555) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains EXOC4 60412 genome.wustl.edu 37 7 133689701 133689701 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021807.3 +1 reviewed p.K795N 1.000 111 0% 58 25.9% 21 23.8% probably_damaging(0.959) tolerated(0.23) neutral(0.444) NULL AKR1B15 441282 genome.wustl.edu 37 7 134260641 134260641 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080538.2 +1 validated p.V207 0.989 148 0% 49 32.7% 0 - - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase WDR91 29062 genome.wustl.edu 37 7 134878067 134878067 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014149.3 -1 validated p.F525 0.000 57 0% 59 27.1% 42 42.8% - - - superfamily_WD40 repeat-like WDR91 29062 genome.wustl.edu 37 7 134893731 134893731 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014149.3 -1 validated p.A108V 1.000 92 0% 127 17.3% 24 62.5% benign(0.071) tolerated(1) neutral(0.005) NULL STRA8 346673 genome.wustl.edu 37 7 134925358 134925358 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182489.1 +1 provisional p.R50W 0.002 26 0% 52 17.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NUP205 23165 genome.wustl.edu 37 7 135286123 135286123 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015135.2 +1 validated p.E794* 1.000 203 0% 98 25.5% 15 20% - - - NULL NUP205 23165 genome.wustl.edu 37 7 135322737 135322737 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015135.2 +1 validated p.K1732T 1.000 130 0% 105 27.6% 46 69.5% possibly_damaging(0.743) tolerated(0.22) neutral(0.315) NULL NUP205 23165 genome.wustl.edu 37 7 135329715 135329715 + Missense_Mutation SNP C C T rs192502338 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015135.2 +1 validated p.R1878C 1.000 104 0% 71 32.4% 37 70.2% possibly_damaging(0.922) tolerated(0.14) deleterious(0.621) NULL MTPN 136319 genome.wustl.edu 37 7 135661831 135661831 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145808.3 -1 reviewed p.F6L 1.000 179 0% 289 31.8% 67 41.7% unknown(0) deleterious(0) - superfamily_Ankyrin repeat DGKI 9162 genome.wustl.edu 37 7 137170120 137170120 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004717.2 -1 reviewed p.Q809H 1.000 203 0% 127 27.6% 0 - probably_damaging(0.979) tolerated(0.08) deleterious(0.722) NULL AKR1D1 6718 genome.wustl.edu 37 7 137798514 137798514 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005989.2 +1 validated p.L312F 0.995 131 0% 96 35.4% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) superfamily_Aldo/ket_red UBN2 254048 genome.wustl.edu 37 7 138964082 138964082 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173569.3 +1 validated p.I598M 1.000 84 0% 47 31.9% 1 0% probably_damaging(0.996) tolerated(0.28) deleterious(0.493) NULL LUC7L2 51631 genome.wustl.edu 37 7 139094358 139094358 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016019.2 +1 validated p.R246Q 1.000 71 0% 107 29% 73 41% unknown(0) deleterious(0.05) - HMMPfam_LUC7 HIPK2 28996 genome.wustl.edu 37 7 139416054 139416054 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000263551 -1 known p.F260 0.998 88 0% 68 48.5% 8 25% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PARP12 64761 genome.wustl.edu 37 7 139757768 139757768 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022750.2 -1 provisional p.G131 0.007 130 0.8% 186 28% 20 25% - - - NULL SLC37A3 84255 genome.wustl.edu 37 7 140051927 140051927 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207113.1 -1 validated p.A213V 0.988 80 0% 113 34.5% 15 6.6% benign(0.019) tolerated(0.45) neutral(0.013) HMMPfam_MFS_1,superfamily_MFS general substrate transporter DENND2A 27147 genome.wustl.edu 37 7 140257953 140257953 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015689.3 -1 validated p.R650Q 1.000 65 0% 93 28% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_uDENN,HMMSmart_SM00800 DENND2A 27147 genome.wustl.edu 37 7 140301593 140301593 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015689.3 -1 validated p.P202H 0.016 43 0% 22 27.3% 0 - benign(0.001) deleterious(0.04) neutral(0.349) NULL DENND2A 27147 genome.wustl.edu 37 7 140301932 140301932 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015689.3 -1 validated p.R89I 0.000 252 0% 165 29.1% 5 20% benign(0.028) deleterious(0.01) neutral(0.407) NULL ADCK2 90956 genome.wustl.edu 37 7 140373884 140373884 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052853.3 +1 validated p.E252K 0.005 50 0% 106 19.8% 22 18.1% benign(0.071) tolerated(0.09) neutral(0.301) HMMPfam_ABC1 BRAF 673 genome.wustl.edu 37 7 140439707 140439707 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004333.4 -1 reviewed p.L678I 1.000 102 0% 76 26.3% 4 75% benign(0.03) deleterious(0.02) neutral(0.385) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TAS2R4 50832 genome.wustl.edu 37 7 141478827 141478827 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016944.1 +1 reviewed p.S180F 0.000 82 0% 89 36% 0 - probably_damaging(0.959) tolerated(0.18) neutral(0.459) HMMPfam_TAS2R,superfamily_SSF81321 OR9A4 130075 genome.wustl.edu 37 7 141618909 141618909 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001656.1 +1 provisional p.P78 0.000 130 0% 97 24.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MGAM 8972 genome.wustl.edu 37 7 141708373 141708373 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004668.2 +1 reviewed p.T65 0.000 146 0% 95 12.6% 0 - - - - NULL MGAM 8972 genome.wustl.edu 37 7 141730197 141730197 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004668.2 +1 reviewed p.E419D 0.036 168 0% 84 25% 0 - benign(0) tolerated(0.68) neutral(0.002) HMMPfam_Glyco_hydro_31 TRBV2 28620 genome.wustl.edu 37 7 142001133 142001133 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000455382 +1 known p.E42D 0.229 97 0% 45 42.2% 0 - benign(0.008) tolerated(1) - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TRBV3-1 28619 genome.wustl.edu 37 7 142008727 142008727 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390387 +1 known p.S67N 0.000 116 0% 88 23.9% 0 - possibly_damaging(0.749) tolerated(0.32) neutral(0.299) HMMPfam_V-set,superfamily_SSF48726 TRBV4-1 28617 genome.wustl.edu 37 7 142013065 142013065 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390357 +1 known p.V10 0.000 213 0% 89 24.7% 1 0% - - - NULL TRBV5-1 28614 genome.wustl.edu 37 7 142021276 142021276 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390381 +1 known p.R86C 0.000 102 0% 52 36.5% 6 0% benign(0.003) deleterious(0) neutral(0.445) HMMPfam_V-set,superfamily_SSF48726 TRBV6-9 28598 genome.wustl.edu 37 7 142104187 142104187 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390379 -1 known p.F93S 0.008 162 0.6% 96 31.2% 0 - possibly_damaging(0.891) tolerated(0.06) deleterious(0.673) HMMPfam_V-set,superfamily_SSF48726 TRBV5-4 28611 genome.wustl.edu 37 7 142168605 142168605 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000454561 -1 known p.L40 0.460 179 0% 109 26.6% 2 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TRBV6-4 28603 genome.wustl.edu 37 7 142250813 142250813 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390360 -1 known p.E78D 0.000 151 0% 50 26% 0 - benign(0.001) tolerated(1) - HMMPfam_V-set,superfamily_SSF48726 TRPV6 55503 genome.wustl.edu 37 7 142573596 142573596 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018646.2 -1 validated p.S275L 0.992 53 0% 74 28.4% 2 50% possibly_damaging(0.943) deleterious(0) deleterious(0.832) NULL KEL 3792 genome.wustl.edu 37 7 142641467 142641467 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000420.2 -1 reviewed p.E478 1.000 53 0% 38 23.7% 1 0% - - - "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" KEL 3792 genome.wustl.edu 37 7 142651387 142651387 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000420.2 -1 reviewed p.E270* 0.000 113 0% 61 37.7% 0 - - - - "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" TAS2R39 259285 genome.wustl.edu 37 7 142881026 142881026 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176881.2 +1 provisional p.H172R 0.000 162 0% 114 37.7% 0 - benign(0.157) tolerated(0.33) neutral(0.038) HMMPfam_TAS2R,superfamily_SSF81321 GSTK1 373156 genome.wustl.edu 37 7 142964766 142964766 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143679.1 +1 reviewed p.I215 0.000 78 0% 90 25.6% 330 32.7% - - - HMMPfam_DSBA,superfamily_Thiordxn-like_fd FAM115C 285966 genome.wustl.edu 37 7 143400173 143400173 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130025.1 +1 validated p.E29G 1.000 81 0% 85 18.8% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL OR2F1 26211 genome.wustl.edu 37 7 143657108 143657108 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012369.2 +1 provisional p.L15 0.021 225 0.4% 165 36.4% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR2A14 135941 genome.wustl.edu 37 7 143827022 143827022 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001659.1 +1 provisional p.L273I 0.434 138 0% 67 32.8% 0 - benign(0.366) tolerated(0.61) neutral(0.121) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARHGEF5 7984 genome.wustl.edu 37 7 144070324 144070324 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005435.3 +1 reviewed p.R1363* 1.000 83 0% 87 48.3% 11 18.1% - - - superfamily_DBL homology domain (DH-domain) MIR548F4 100313895 genome.wustl.edu 37 7 147075140 147075140 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000408515 -1 known NULL 0.013 210 0% 67 37.3% 0 - - - - - CNTNAP2 26047 genome.wustl.edu 37 7 147092834 147092834 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014141.5 +1 reviewed p.F544 0.997 73 0% 35 28.6% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases CUL1 8454 genome.wustl.edu 37 7 148497617 148497617 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003592.2 +1 validated p.E758D 1.000 120 0% 176 31.2% 86 40.6% benign(0.089) tolerated(0.17) neutral(0.066) "PatternScan_CULLIN_1,HMMPfam_Cullin_Nedd8,superfamily_""Winged helix"" DNA-binding domain" ZNF425 155054 genome.wustl.edu 37 7 148801175 148801175 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001661.2 -1 validated p.Q596 0.105 57 0% 88 42% 5 20% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF212 7988 genome.wustl.edu 37 7 148950701 148950701 + Missense_Mutation SNP C C T rs185003508 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012256.2 +1 reviewed p.A228V 0.003 38 0% 54 25.9% 12 41.6% benign(0.002) tolerated(0.17) neutral(0.059) NULL ZNF746 155061 genome.wustl.edu 37 7 149191451 149191451 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152557.4 -1 validated p.F56 0.585 184 0.5% 243 32.1% 13 23% - - - NULL KRBA1 84626 genome.wustl.edu 37 7 149416738 149416738 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000255992 +1 known p.E3D 1.000 67 0% 110 32.7% 1 100% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL SSPO 23145 genome.wustl.edu 37 7 149502585 149502585 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000378016 +1 known p.R2800C 0.970 63 0% 97 28.9% 1 0% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat NOS3 4846 genome.wustl.edu 37 7 150690936 150690936 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000603.4 +1 reviewed p.C15 0.778 14 0% 17 41.2% 3 0% - - - NULL NOS3 4846 genome.wustl.edu 37 7 150704236 150704236 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000603.4 +1 reviewed p.A662T 1.000 51 0% 82 34.1% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Flavodoxin_1,superfamily_Flavoproteins ASIC3 9311 genome.wustl.edu 37 7 150747624 150747624 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020321.2 +1 reviewed p.P248S 0.991 43 0% 85 41.2% 6 50% possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) HMMPfam_ASC SLC4A2 6522 genome.wustl.edu 37 7 150767376 150767376 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003040.3 +1 validated p.H464 0.288 46 0% 94 39.4% 96 44.7% - - - HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein FASTK 10922 genome.wustl.edu 37 7 150775156 150775156 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000297530 -1 known p.L143I 0.996 48 0% 99 42.4% 115 40.8% benign(0.013) tolerated(0.13) neutral(0.253) NULL FASTK 10922 genome.wustl.edu 37 7 150776649 150776649 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006712.3 -1 reviewed p.R148Q 1.000 53 0% 119 34.5% 107 42.9% probably_damaging(0.968) deleterious(0.02) deleterious(0.793) NULL AGAP3 116988 genome.wustl.edu 37 7 150837107 150837107 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031946.4 +1 validated p.D570Y 1.000 34 0% 86 23.3% 32 50% benign(0.007) deleterious(0.01) neutral(0.406) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ABCF2 10061 genome.wustl.edu 37 7 150923469 150923469 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005692.3 -1 reviewed p.G26* 0.994 287 0% 472 34.7% 22 45.4% - - - NULL CHPF2 54480 genome.wustl.edu 37 7 150935326 150935326 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019015.1 +1 provisional p.F626L 1.000 22 0% 40 20% 53 26.4% possibly_damaging(0.941) deleterious(0.01) deleterious(0.792) HMMPfam_CHGN NUB1 51667 genome.wustl.edu 37 7 151071223 151071223 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016118.3 +1 validated p.R430I 0.001 66 0% 109 24.8% 64 39% possibly_damaging(0.908) deleterious(0) deleterious(0.806) NULL GALNT11 63917 genome.wustl.edu 37 7 151807728 151807728 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022087.2 +1 validated p.R360W 1.000 241 0% 224 31.2% 60 36.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotide-diphospho-sugar transferases MLL3 58508 genome.wustl.edu 37 7 151842334 151842334 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170606.2 -1 reviewed p.R4693Q 1.000 51 0% 40 25% 32 50% unknown(0) - - HMMPfam_FYRC,HMMSmart_SM00542 MLL3 58508 genome.wustl.edu 37 7 151846012 151846012 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170606.2 -1 reviewed p.R4334W 0.990 125 0% 67 34.3% 27 48.1% unknown(0) - - NULL XRCC2 7516 genome.wustl.edu 37 7 152346208 152346208 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005431.1 -1 reviewed p.S121N 0.009 114 0% 78 29.5% 4 50% benign(0) tolerated(0.53) neutral(0.007) superfamily_P-loop containing nucleoside triphosphate hydrolases XRCC2 7516 genome.wustl.edu 37 7 152346224 152346224 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005431.1 -1 reviewed p.F116V 0.003 130 0% 89 30.3% 5 40% benign(0) tolerated(0.08) neutral(0.300) superfamily_P-loop containing nucleoside triphosphate hydrolases ACTR3B 57180 genome.wustl.edu 37 7 152517509 152517509 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020445.4 +1 validated p.E222D 1.000 146 0% 137 20.4% 10 10% benign(0.399) tolerated(0.18) neutral(0.184) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain DPP6 1804 genome.wustl.edu 37 7 154002608 154002608 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000332007 +1 known p.S10L 0.720 35 0% 90 34.4% 0 - possibly_damaging(0.887) tolerated(0.29) neutral(0.376) NULL LMBR1 64327 genome.wustl.edu 37 7 156626447 156626447 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022458.3 -1 reviewed p.S60L 1.000 174 0% 89 31.5% 18 44.4% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_LMBR1 NOM1 64434 genome.wustl.edu 37 7 156743072 156743072 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138400.1 +1 provisional p.D214G 1.000 77 0% 106 19.8% 8 37.5% possibly_damaging(0.93) deleterious(0) deleterious(0.821) NULL NOM1 64434 genome.wustl.edu 37 7 156759068 156759068 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138400.1 +1 provisional p.K713T 1.000 117 0% 133 27.1% 14 35.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MA3,HMMSmart_MA3 UBE3C 9690 genome.wustl.edu 37 7 157000206 157000206 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014671.2 +1 validated p.L511 0.979 256 0% 168 32.1% 30 26.6% - - - NULL DNAJB6 10049 genome.wustl.edu 37 7 157155854 157155854 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058246.3 +1 reviewed e2-1 0.999 97 0% 96 29.2% 0 - - - - - PTPRN2 5799 genome.wustl.edu 37 7 157929367 157929367 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002847.3 -1 reviewed p.D385N 0.005 113 0.9% 224 27.7% 0 - benign(0.312) tolerated(0.06) neutral(0.420) NULL ENSG00000186921 0 genome.wustl.edu 37 7 158415371 158415371 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000335132 -1 known p.E101* 0.930 119 0% 101 26.7% 2 0% - - - NULL NCAPG2 54892 genome.wustl.edu 37 7 158437052 158437052 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000441982 -1 known p.R858K 0.937 239 0% 231 26% 60 45% - - - NULL WDR60 55112 genome.wustl.edu 37 7 158726897 158726897 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018051.4 +1 validated p.H875R 1.000 210 0.5% 319 26.6% 17 47% benign(0.064) deleterious(0.01) neutral(0.410) superfamily_WD40 repeat-like ARHGEF10 9639 genome.wustl.edu 37 8 1851515 1851515 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014629.2 +1 reviewed p.L573 0.958 39 0% 96 39.6% 10 50% - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain MYOM2 9172 genome.wustl.edu 37 8 1998921 1998921 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003970.2 +1 validated p.R14M 0.231 112 0% 97 30.9% 0 - possibly_damaging(0.509) deleterious(0) deleterious(0.615) NULL MYOM2 9172 genome.wustl.edu 37 8 2020437 2020437 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003970.2 +1 validated p.S269L 0.000 82 0% 113 31.9% 0 - benign(0.001) tolerated(0.38) neutral(0.018) NULL MYOM2 9172 genome.wustl.edu 37 8 2072077 2072077 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003970.2 +1 validated p.M1227I 1.000 288 0% 514 33.1% 0 - benign(0) tolerated(0.43) neutral(0.013) superfamily_SSF48726 LOC100286951 100286951 genome.wustl.edu 37 8 2092872 2092872 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342813.1 -1 model p.M53I 0.781 37 0% 33 27.3% 2 0% - - - NULL CSMD1 64478 genome.wustl.edu 37 8 2876021 2876021 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033225.5 -1 validated p.S2670 0.991 58 0% 47 34% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 3224608 3224608 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033225.5 -1 validated p.R1022W 0.998 109 0% 47 31.9% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MCPH1 79648 genome.wustl.edu 37 8 6302037 6302037 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024596.3 +1 reviewed p.S265Y 0.007 139 0% 92 33.7% 7 14.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ANGPT2 285 genome.wustl.edu 37 8 6377507 6377507 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001147.2 -1 reviewed p.D270N 0.048 295 0% 203 12.3% 1 0% benign(0) tolerated(0.5) neutral(0.010) NULL DEFA4 1669 genome.wustl.edu 37 8 6793610 6793610 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001925.1 -1 reviewed p.E76* 0.001 80 0% 63 20.6% 0 - - - - HMMSmart_SM00048,HMMPfam_Defensin_1,PatternScan_DEFENSIN PRSS55 203074 genome.wustl.edu 37 8 10396121 10396121 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198464.2 +1 validated p.L293I 0.000 111 0% 129 31% 0 - benign(0.138) tolerated(0.19) neutral(0.061) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases RP1L1 94137 genome.wustl.edu 37 8 10467620 10467620 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178857.5 -1 validated p.G1330W 0.000 819 0% 1256 13.3% 1 0% unknown(0) deleterious(0) - NULL XKR6 286046 genome.wustl.edu 37 8 10755465 10755465 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000382461 -1 known p.S418Y 1.000 70 0% 46 32.6% 0 - - - - NULL SLC35G5 83650 genome.wustl.edu 37 8 11188774 11188774 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_054028.1 +1 reviewed p.F53 0.995 196 0% 295 12.2% 1 0% - - - HMMPfam_DUF6 SLC35G5 83650 genome.wustl.edu 37 8 11188883 11188883 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_054028.1 +1 reviewed p.R90C 0.827 233 0% 381 28.9% 0 - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_DUF6,superfamily_SSF103481 SLC35G5 83650 genome.wustl.edu 37 8 11189124 11189124 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_054028.1 +1 reviewed p.I170S 0.837 116 0% 169 35.5% 0 - possibly_damaging(0.736) deleterious(0.04) deleterious(0.618) HMMPfam_DUF6,superfamily_SSF103481 BLK 640 genome.wustl.edu 37 8 11406553 11406553 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001715.2 +1 validated p.A97V 1.000 143 0% 152 42.1% 1 0% probably_damaging(1) tolerated(0.21) deleterious(0.544) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ZNF705F 790969 genome.wustl.edu 37 8 12216340 12216340 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000400078 +1 known p.E113D 0.241 47 0% 62 27.4% 0 - - - - NULL FAM86B2 653333 genome.wustl.edu 37 8 12286248 12286248 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137610.1 -1 predicted p.I212 0.000 51 0% 64 45.3% 1 0% - - - HMMPfam_Methyltransf_16,superfamily_SSF53335 OR7E8P 346708 genome.wustl.edu 37 8 12542155 12542155 + Missense_Mutation SNP G G T rs186580004 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000317826 -1 known p.L178M 0.000 191 0.5% 150 28% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR7E8P 346708 genome.wustl.edu 37 8 12542244 12542244 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000317826 -1 known p.F148S 0.977 94 0% 83 38.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 KIAA1456 57604 genome.wustl.edu 37 8 12878638 12878638 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020844.2 +1 validated p.H150Q 0.772 63 0% 58 37.9% 1 0% benign(0.029) tolerated(0.15) neutral(0.242) superfamily_S-adenosyl-L-methionine-dependent methyltransferases DLC1 10395 genome.wustl.edu 37 8 13356569 13356569 + Missense_Mutation SNP G G A rs191904737 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182643.2 -1 reviewed p.R338C 1.000 253 0% 149 34.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DLC1 10395 genome.wustl.edu 37 8 13357127 13357127 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182643.2 -1 reviewed p.P152S 0.350 136 0% 80 28.7% 0 - benign(0.001) tolerated(1) - NULL MSR1 4481 genome.wustl.edu 37 8 16032797 16032797 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138715.2 -1 reviewed p.S39N 0.807 218 0% 110 20% 18 0% benign(0.007) deleterious(0.02) neutral(0.383) NULL EFHA2 286097 genome.wustl.edu 37 8 16935352 16935352 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181723.2 +1 validated p.R210* 1.000 110 0% 58 31% 0 - - - - NULL ZDHHC2 51201 genome.wustl.edu 37 8 17063200 17063200 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016353.4 +1 validated p.F171L 1.000 474 0% 211 32.7% 23 56.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-DHHC SLC7A2 6542 genome.wustl.edu 37 8 17400948 17400948 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003046.5 +1 validated p.L74V 0.993 98 0% 41 39% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC7A2 6542 genome.wustl.edu 37 8 17402056 17402056 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003046.5 +1 validated p.Y198C 0.318 196 0% 103 39.8% 0 - benign(0.394) deleterious(0.02) deleterious(0.510) NULL SLC7A2 6542 genome.wustl.edu 37 8 17409284 17409284 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003046.5 +1 validated p.R322W 1.000 287 0% 152 36.8% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_AA_permease SLC7A2 6542 genome.wustl.edu 37 8 17422554 17422554 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003046.5 +1 validated p.H665N 0.000 108 0% 84 28.6% 0 - benign(0) tolerated(1) - NULL SLC7A2 6542 genome.wustl.edu 37 8 17422652 17422652 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003046.5 +1 validated p.F697L 1.000 84 0% 65 30.8% 0 - benign(0.016) - - NULL PCM1 5108 genome.wustl.edu 37 8 17814153 17814153 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006197.3 +1 validated p.E505* 1.000 91 0% 61 26.2% 10 20% - - - NULL ASAH1 427 genome.wustl.edu 37 8 17917101 17917101 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004315.4 -1 reviewed p.K315N 0.003 206 0% 127 35.4% 191 31.9% benign(0.002) tolerated(0.58) neutral(0.005) HMMPfam_CBAH NAT1 9 genome.wustl.edu 37 8 18079582 18079582 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000662.5 +1 reviewed p.R9I 1.000 142 0% 49 20.4% 11 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF54001 INTS10 55174 genome.wustl.edu 37 8 19701727 19701727 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018142.2 +1 validated p.E620D 1.000 107 0% 53 30.2% 33 51.5% possibly_damaging(0.896) deleterious(0) deleterious(0.798) NULL LPL 4023 genome.wustl.edu 37 8 19805713 19805713 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000311322 +1 known p.I37 0.585 102 0% 81 37% 0 - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases GFRA2 2675 genome.wustl.edu 37 8 21560454 21560454 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001495.4 -1 reviewed p.V361M 1.000 52 0% 59 33.9% 1 0% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL FGF17 8822 genome.wustl.edu 37 8 21903675 21903675 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003867.2 +1 reviewed p.G41 0.775 19 0% 52 30.8% 2 100% - - - superfamily_Cytokine BMP1 649 genome.wustl.edu 37 8 22037220 22037220 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006129.4 +1 reviewed p.G280D 1.000 81 0% 160 31.2% 36 38.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) "HMMPfam_Astacin,superfamily_Metalloproteases (""zincins"") catalytic domain" BMP1 649 genome.wustl.edu 37 8 22054871 22054871 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006129.4 +1 reviewed p.R682H 1.000 76 0% 124 34.7% 42 28.5% possibly_damaging(0.496) deleterious(0.02) deleterious(0.548) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PIWIL2 55124 genome.wustl.edu 37 8 22140723 22140723 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135721.1 +1 validated p.P201H 0.002 72 0% 72 27.8% 1 0% benign(0.053) deleterious(0) neutral(0.448) NULL PIWIL2 55124 genome.wustl.edu 37 8 22167535 22167535 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135721.1 +1 validated p.S583Y 1.000 142 0.7% 95 36.8% 0 - possibly_damaging(0.95) tolerated(0.63) neutral(0.397) NULL PIWIL2 55124 genome.wustl.edu 37 8 22168767 22168767 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135721.1 +1 validated p.R648L 0.997 68 0% 29 41.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Ribonuclease H-like EGR3 1960 genome.wustl.edu 37 8 22548608 22548608 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004430.2 -1 reviewed p.P181L 0.994 85 0% 148 35.1% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL EGR3 1960 genome.wustl.edu 37 8 22548788 22548788 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004430.2 -1 reviewed p.S121N 1.000 19 0% 30 43.3% 1 0% benign(0.429) tolerated(0.14) neutral(0.389) NULL TNFRSF10C 8794 genome.wustl.edu 37 8 22960685 22960685 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003841.2 +1 reviewed p.V17 0.001 40 0% 47 29.8% 2 0% - - - NULL TNFRSF10C 8794 genome.wustl.edu 37 8 22973035 22973035 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003841.2 +1 reviewed p.S99R 0.000 85 0% 80 32.5% 3 0% probably_damaging(0.999) - - HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like TNFRSF10D 8793 genome.wustl.edu 37 8 23004497 23004497 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003840.3 -1 reviewed p.E153D 0.044 106 0% 97 21.6% 1 100% probably_damaging(0.986) deleterious(0.03) deleterious(0.799) HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like TNFRSF10D 8793 genome.wustl.edu 37 8 23004583 23004583 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003840.3 -1 reviewed p.Q125K 0.000 106 0% 119 33.6% 0 - benign(0.059) tolerated(0.71) neutral(0.005) HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like TNFRSF10D 8793 genome.wustl.edu 37 8 23021355 23021355 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003840.3 -1 reviewed p.L32F 0.019 20 0% 44 47.7% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL LOXL2 4017 genome.wustl.edu 37 8 23217622 23217622 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002318.2 -1 reviewed p.S171L 0.914 46 0% 43 14% 22 18.1% benign(0.009) deleterious(0.02) neutral(0.384) NULL STC1 6781 genome.wustl.edu 37 8 23709775 23709775 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003155.2 -1 reviewed p.A81T 1.000 109 0% 144 17.4% 17 17.6% possibly_damaging(0.88) deleterious(0) deleterious(0.788) HMMPfam_Stanniocalcin ADAMDEC1 27299 genome.wustl.edu 37 8 24261565 24261565 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014479.3 +1 validated p.G457E 0.000 245 0% 104 24% 34 2.9% benign(0.001) tolerated(0.33) neutral(0.024) HMMPfam_Disintegrin,HMMSmart_DISIN ADAM7 8756 genome.wustl.edu 37 8 24346804 24346804 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000380789 +1 known p.K408N 0.346 147 0% 49 30.6% 0 - benign(0.033) tolerated(0.37) neutral(0.021) NULL ADAM7 8756 genome.wustl.edu 37 8 24365001 24365001 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000380789 +1 known p.A761 0.493 102 0% 53 35.8% 0 - - - - NULL NEFM 4741 genome.wustl.edu 37 8 24773231 24773231 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005382.2 +1 reviewed p.I398 0.999 93 0% 163 36.2% 0 - - - - HMMPfam_Filament,PatternScan_IF NEFL 4747 genome.wustl.edu 37 8 24811709 24811709 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000221169 -1 known p.E385D 1.000 342 0% 593 35.6% 1 0% - - - HMMPfam_Filament DOCK5 80005 genome.wustl.edu 37 8 25258560 25258560 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024940.6 +1 validated p.K1635M 1.000 93 0% 82 25.6% 8 75% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL KCTD9 54793 genome.wustl.edu 37 8 25292998 25292998 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017634.2 -1 validated p.R232C 1.000 130 0% 85 25.9% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pentapeptide CDCA2 157313 genome.wustl.edu 37 8 25319576 25319576 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152562.2 +1 validated p.S80* 0.942 163 0% 222 29.7% 6 33.3% - - - NULL PNMA2 10687 genome.wustl.edu 37 8 26365743 26365743 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007257.5 -1 validated p.E177* 0.952 56 0% 45 11.1% 0 - - - - NULL TRIM35 23087 genome.wustl.edu 37 8 27146748 27146748 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_171982.3 -1 validated p.D279N 0.005 75 0% 115 22.6% 23 34.7% probably_damaging(0.996) tolerated(0.64) neutral(0.465) NULL PTK2B 2185 genome.wustl.edu 37 8 27308338 27308338 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004103.3 +1 reviewed p.R805W 0.997 130 0% 109 27.5% 18 5.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C8orf80 389643 genome.wustl.edu 37 8 27891133 27891133 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010906.1 -1 provisional p.A565T 0.137 157 0% 98 32.7% 1 0% benign(0) tolerated(0.06) neutral(0.323) NULL ELP3 55140 genome.wustl.edu 37 8 27970611 27970611 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018091.5 +1 validated p.E180* 1.000 253 0% 155 23.2% 50 8% - - - HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes ZNF395 55893 genome.wustl.edu 37 8 28209179 28209179 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018660.2 -1 validated p.T356A 0.000 48 0% 57 35.1% 46 54.3% benign(0.001) tolerated(0.53) neutral(0.007) NULL INTS9 55756 genome.wustl.edu 37 8 28638466 28638466 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018250.3 -1 reviewed p.D382Y 1.000 70 0% 62 33.9% 41 34.1% possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) NULL DCTN6 10671 genome.wustl.edu 37 8 30034701 30034701 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006571.2 +1 reviewed p.G85A 1.000 215 0% 139 33.1% 53 45.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Trimeric LpxA-like enzymes UBXN8 7993 genome.wustl.edu 37 8 30623765 30623765 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000265616 +1 known p.R222K 0.153 91 0% 88 26.1% 23 47.8% - - - HMMPfam_UBX,superfamily_Ubiquitin-like TEX15 56154 genome.wustl.edu 37 8 30701600 30701600 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031271.3 -1 validated p.P1645H 0.995 117 0% 40 27.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TEX15 56154 genome.wustl.edu 37 8 30701606 30701606 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031271.3 -1 validated p.I1643S 0.998 112 0% 42 28.6% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TEX15 56154 genome.wustl.edu 37 8 30706104 30706104 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031271.3 -1 validated p.T144A 0.041 130 0% 69 15.9% 0 - benign(0.014) tolerated(0.99) neutral(0.001) NULL ENSG00000229211 0 genome.wustl.edu 37 8 31078127 31078127 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000429479 -1 known p.S119Y 1.000 93 0% 46 30.4% 0 - - - - HMMSmart_SM00225,superfamily_POZ domain ENSG00000229211 0 genome.wustl.edu 37 8 31078228 31078228 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000429479 -1 known p.L85 0.998 53 0% 30 20% 0 - - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain NRG1 3084 genome.wustl.edu 37 8 32505464 32505464 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013959.3 +1 reviewed p.I76 1.000 105 0% 127 32.3% 0 - - - - NULL NRG1 3084 genome.wustl.edu 37 8 32585512 32585512 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013956.3 +1 reviewed p.A183V 0.963 185 0% 94 35.1% 1 0% benign(0.245) tolerated(0.07) neutral(0.344) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 NRG1 3084 genome.wustl.edu 37 8 32607089 32607089 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013956.3 +1 reviewed p.G234 1.000 310 0% 347 37.8% 0 - - - - superfamily_SSF57196 NRG1 3084 genome.wustl.edu 37 8 32617884 32617884 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013956.3 +1 reviewed p.E415* 1.000 34 0% 30 30% 0 - - - - HMMPfam_Neuregulin DUSP26 78986 genome.wustl.edu 37 8 33454896 33454896 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024025.1 -1 provisional p.F46 0.637 57 0% 112 24.1% 0 - - - - NULL UNC5D 137970 genome.wustl.edu 37 8 35588570 35588570 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080872.2 +1 validated p.E574D 1.000 162 0% 73 26% 0 - benign(0.001) tolerated(0.23) neutral(0.042) HMMPfam_ZU5,HMMSmart_SM00218 UNC5D 137970 genome.wustl.edu 37 8 35606045 35606045 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080872.2 +1 validated p.S589 1.000 90 0% 58 34.5% 0 - - - - HMMPfam_ZU5,HMMSmart_SM00218 ERLIN2 11160 genome.wustl.edu 37 8 37608000 37608000 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007175.6 +1 validated p.L215 0.998 72 0% 72 22.2% 40 40% - - - NULL RAB11FIP1 80223 genome.wustl.edu 37 8 37729408 37729408 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002814.2 -1 validated p.R971I 0.912 85 0% 69 31.9% 4 75% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RAB11FIP1 80223 genome.wustl.edu 37 8 37729584 37729584 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002814.2 -1 validated p.R912S 0.000 61 0% 60 16.7% 3 0% possibly_damaging(0.732) deleterious(0) deleterious(0.712) NULL GOT1L1 137362 genome.wustl.edu 37 8 37794264 37794264 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152413.2 -1 validated p.S246Y 0.996 95 0% 82 37.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ADRB3 155 genome.wustl.edu 37 8 37823788 37823788 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000025.2 -1 reviewed p.R67I 1.000 28 0% 44 22.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ASH2L 9070 genome.wustl.edu 37 8 37993231 37993231 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004674.3 +1 validated p.D556Y 1.000 110 0% 106 24.5% 19 42.1% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00449 LETM2 137994 genome.wustl.edu 37 8 38258371 38258371 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144652.1 +1 provisional p.V167L 1.000 28 0% 42 40.5% 4 50% possibly_damaging(0.842) tolerated(0.05) deleterious(0.667) HMMPfam_LETM1 HTRA4 203100 genome.wustl.edu 37 8 38840024 38840024 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153692.3 +1 reviewed p.A374 0.245 231 0% 289 29.4% 1 0% - - - NULL HTRA4 203100 genome.wustl.edu 37 8 38845468 38845468 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153692.3 +1 reviewed p.D428N 1.000 115 0% 154 30.5% 1 0% benign(0.038) tolerated(0.19) neutral(0.052) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ ADAM32 203102 genome.wustl.edu 37 8 39022331 39022331 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145004.5 +1 validated p.E215K 0.877 233 0% 123 17.9% 0 - possibly_damaging(0.598) tolerated(0.11) deleterious(0.479) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM32 203102 genome.wustl.edu 37 8 39079160 39079160 + Missense_Mutation SNP G G A rs141457355 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145004.5 +1 validated p.R422Q 0.000 306 0% 96 25% 0 - benign(0.026) tolerated(0.57) neutral(0.007) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) ADAM18 8749 genome.wustl.edu 37 8 39534992 39534992 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014237.1 +1 reviewed p.S523Y 0.900 162 0.6% 68 27.9% 0 - probably_damaging(0.998) tolerated(1) deleterious(0.474) HMMPfam_ADAM_CR,HMMSmart_SM00608 ZMAT4 79698 genome.wustl.edu 37 8 40554769 40554769 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024645.2 -1 validated p.T115I 1.000 181 0% 76 27.6% 0 - possibly_damaging(0.471) tolerated(0.17) neutral(0.214) NULL ZMAT4 79698 genome.wustl.edu 37 8 40554819 40554819 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024645.2 -1 validated p.I98 1.000 190 0% 71 32.4% 0 - - - - HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ANK1 286 genome.wustl.edu 37 8 41547778 41547778 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142446.1 -1 reviewed p.C1398 0.990 117 0% 150 28% 0 - - - - NULL ANK1 286 genome.wustl.edu 37 8 41556984 41556984 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142446.1 -1 reviewed p.P889 0.166 143 0% 240 33.3% 0 - - - - superfamily_ANK IKBKB 3551 genome.wustl.edu 37 8 42179460 42179460 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001556.1 +1 validated p.R579* 0.232 229 0% 279 33% 28 7.1% - - - NULL SLC20A2 6575 genome.wustl.edu 37 8 42329698 42329698 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006749.3 -1 provisional p.R71C 1.000 72 0% 67 25.4% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PHO4 CHRNB3 1142 genome.wustl.edu 37 8 42586896 42586896 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000749.3 +1 validated p.Y149C 1.000 44 0% 47 27.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CHRNA6 8973 genome.wustl.edu 37 8 42612119 42612119 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004198.2 -1 provisional p.R109H 0.988 166 0% 155 38.7% 0 - possibly_damaging(0.847) tolerated(0.34) neutral(0.348) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like RNF170 81790 genome.wustl.edu 37 8 42711368 42711368 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030954.3 -1 validated p.I237 1.000 96 0% 56 44.6% 4 25% - - - HMMPfam_DUF1232 RNF170 81790 genome.wustl.edu 37 8 42729097 42729097 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030954.3 -1 validated p.R64* 1.000 294 0% 173 36.4% 7 14.2% - - - superfamily_RING/U-box HOOK3 84376 genome.wustl.edu 37 8 42868513 42868513 + Missense_Mutation SNP G G T rs187317168 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032410.3 +1 validated p.E662D 1.000 160 0% 156 32.1% 7 14.2% possibly_damaging(0.942) tolerated(0.08) deleterious(0.687) HMMPfam_HOOK POTEA 340441 genome.wustl.edu 37 8 43197046 43197046 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005365.2 +1 validated p.K404N 0.051 73 0% 35 31.4% 0 - - - - NULL ENSG00000215179 0 genome.wustl.edu 37 8 47885212 47885212 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000399732 -1 known p.S340N 1.000 133 0% 103 30.1% 0 - - - - superfamily_Protein kinase-like (PK-like) KIAA0146 23514 genome.wustl.edu 37 8 48308981 48308981 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080394.1 +1 predicted p.E191* 0.991 59 0% 33 24.2% 19 15.7% - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48740782 48740782 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000314191 -1 known p.R2841S 0.000 210 0% 329 27.1% 38 36.8% benign(0.001) tolerated(1) - superfamily_ARM repeat SNAI2 6591 genome.wustl.edu 37 8 49831491 49831491 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003068.3 -1 reviewed p.L228 1.000 142 0% 221 36.2% 5 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SNTG1 54212 genome.wustl.edu 37 8 51363137 51363137 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018967.2 +1 reviewed p.F100C 1.000 422 0% 198 32.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SNTG1 54212 genome.wustl.edu 37 8 51664659 51664659 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018967.2 +1 reviewed p.Q461H 1.000 224 0% 84 27.4% 0 - benign(0.029) tolerated(0.2) neutral(0.051) NULL PXDNL 137902 genome.wustl.edu 37 8 52258467 52258467 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144651.4 -1 validated p.E1314D 0.000 205 0% 85 35.3% 0 - benign(0.362) tolerated(0.47) neutral(0.126) NULL PXDNL 137902 genome.wustl.edu 37 8 52258506 52258506 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144651.4 -1 validated p.D1301E 0.859 168 0% 79 36.7% 1 0% benign(0.088) tolerated(0.36) neutral(0.026) NULL PXDNL 137902 genome.wustl.edu 37 8 52287204 52287204 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144651.4 -1 validated p.L1215 0.356 84 0% 131 36.6% 0 - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases PXDNL 137902 genome.wustl.edu 37 8 52323841 52323841 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144651.4 -1 validated p.K677 0.998 116 0% 188 32.4% 1 0% - - - NULL PXDNL 137902 genome.wustl.edu 37 8 52370162 52370162 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144651.4 -1 validated p.R293Q 0.142 142 0% 98 12.2% 0 - benign(0.058) tolerated(1) neutral(0.004) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PXDNL 137902 genome.wustl.edu 37 8 52412312 52412312 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144651.4 -1 validated p.Q133H 0.912 146 0% 76 26.3% 0 - benign(0.007) tolerated(0.06) neutral(0.323) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like PXDNL 137902 genome.wustl.edu 37 8 52567295 52567295 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144651.4 -1 validated p.E64* 0.997 263 0% 142 24.6% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like PCMTD1 115294 genome.wustl.edu 37 8 52744111 52744111 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052937.2 -1 validated p.R200Q 1.000 169 0% 74 24.3% 18 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53335 PCMTD1 115294 genome.wustl.edu 37 8 52746175 52746175 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052937.2 -1 validated p.R162Q 1.000 134 0.7% 69 40.6% 11 45.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53335 ST18 9705 genome.wustl.edu 37 8 53071634 53071634 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014682.2 -1 validated p.R544* 1.000 173 0% 105 33.3% 0 - - - - HMMPfam_MYT1 ST18 9705 genome.wustl.edu 37 8 53084680 53084680 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014682.2 -1 validated p.E247D 0.998 143 0% 113 34.5% 0 - benign(0.344) deleterious(0.03) deleterious(0.473) NULL RB1CC1 9821 genome.wustl.edu 37 8 53558288 53558288 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014781.4 -1 reviewed p.R1321* 0.991 101 0% 47 34% 10 10% - - - NULL ATP6V1H 51606 genome.wustl.edu 37 8 54745637 54745637 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015941.2 -1 reviewed p.M41I 1.000 220 0% 121 28.1% 29 44.8% benign(0.001) deleterious(0) neutral(0.445) HMMPfam_V-ATPase_H,superfamily_ARM repeat RP1 6101 genome.wustl.edu 37 8 55538458 55538458 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006269.1 +1 reviewed p.K672N 0.981 36 0% 50 32% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RP1 6101 genome.wustl.edu 37 8 55541767 55541767 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006269.1 +1 reviewed p.L1775 0.001 121 0% 129 25.6% 0 - - - - NULL RP1 6101 genome.wustl.edu 37 8 55542468 55542468 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006269.1 +1 reviewed p.R2009I 0.001 85 0% 80 40% 0 - benign(0.008) deleterious(0.03) neutral(0.364) NULL RP1 6101 genome.wustl.edu 37 8 55542599 55542599 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006269.1 +1 reviewed p.D2053Y 0.000 67 0% 52 26.9% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL MOS 4342 genome.wustl.edu 37 8 57025882 57025882 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005372.1 -1 validated p.F220 0.236 55 0% 131 33.6% 0 - - - - superfamily_Kinase_like,HMMPfam_Pkinase MOS 4342 genome.wustl.edu 37 8 57026303 57026303 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005372.1 -1 validated p.R80H 0.026 35 0% 99 33.3% 0 - benign(0) tolerated(1) - superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase SDR16C5 195814 genome.wustl.edu 37 8 57221583 57221583 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138969.2 -1 validated p.Y157H 1.000 201 0% 149 26.2% 0 - probably_damaging(0.961) deleterious(0.02) deleterious(0.787) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains CYP7A1 1581 genome.wustl.edu 37 8 59409214 59409214 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000780.3 -1 reviewed p.S286L 0.951 90 0% 74 23% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_p450,superfamily_Cytochrome_P450 CYP7A1 1581 genome.wustl.edu 37 8 59409434 59409434 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000780.3 -1 reviewed p.D213N 1.000 163 0% 130 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 CYP7A1 1581 genome.wustl.edu 37 8 59409607 59409607 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000780.3 -1 reviewed p.P155L 0.115 135 0% 143 30.8% 0 - benign(0.004) tolerated(0.67) neutral(0.003) HMMPfam_p450,superfamily_Cytochrome_P450 NSMAF 8439 genome.wustl.edu 37 8 59522249 59522249 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144772.1 -1 reviewed p.E232* 1.000 148 0% 54 37% 15 6.6% - - - HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like TOX 9760 genome.wustl.edu 37 8 60031534 60031534 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014729.2 -1 reviewed p.F5L 1.000 23 0% 73 28.8% 11 54.5% possibly_damaging(0.946) tolerated(0.09) deleterious(0.686) NULL CHD7 55636 genome.wustl.edu 37 8 61654067 61654067 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017780.2 +1 reviewed p.E26* 1.000 169 0% 243 28.8% 1 0% - - - NULL CHD7 55636 genome.wustl.edu 37 8 61742946 61742946 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017780.2 +1 reviewed p.K1196N 1.000 49 0% 33 24.2% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SNF2_N CHD7 55636 genome.wustl.edu 37 8 61765200 61765200 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017780.2 +1 reviewed p.K2013T 1.000 109 0% 50 28% 5 20% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL CHD7 55636 genome.wustl.edu 37 8 61777673 61777673 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017780.2 +1 reviewed p.I2725 0.991 26 0% 40 27.5% 11 45.4% - - - NULL CLVS1 157807 genome.wustl.edu 37 8 62371004 62371004 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173519.2 +1 validated p.D294N 1.000 100 0% 59 44.1% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_CRAL/TRIO domain ASPH 444 genome.wustl.edu 37 8 62556553 62556553 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004318.3 -1 reviewed p.Q220H 0.332 143 0% 69 40.6% 61 60.6% possibly_damaging(0.467) tolerated(0.1) neutral(0.440) HMMPfam_Asp-B-Hydro_N,superfamily_SSF48452 NKAIN3 286183 genome.wustl.edu 37 8 63492179 63492179 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173688.2 +1 provisional p.V46I 1.000 357 0% 151 24.5% 0 - possibly_damaging(0.882) tolerated(0.51) neutral(0.353) HMMPfam_NKAIN MTFR1 9650 genome.wustl.edu 37 8 66594616 66594616 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014637.3 +1 reviewed p.S32L 1.000 160 0% 161 24.8% 19 15.7% possibly_damaging(0.718) deleterious(0) deleterious(0.705) HMMPfam_DUF729 MTFR1 9650 genome.wustl.edu 37 8 66620173 66620173 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014637.3 +1 reviewed p.R287Q 0.984 85 0% 58 20.7% 27 40.7% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL DNAJC5B 85479 genome.wustl.edu 37 8 66988894 66988894 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033105.4 +1 validated e2-1 1.000 64 0% 22 18.2% 0 - - - - - TRIM55 84675 genome.wustl.edu 37 8 67066432 67066432 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_184085.1 +1 reviewed p.S463G 1.000 98 0% 38 10.5% 0 - benign(0) tolerated(0.18) neutral(0.056) NULL VCPIP1 80124 genome.wustl.edu 37 8 67577963 67577963 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025054.4 -1 validated p.L411I 1.000 88 0% 122 27% 3 0% possibly_damaging(0.888) tolerated(0.09) deleterious(0.644) NULL SGK3 23678 genome.wustl.edu 37 8 67753270 67753270 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033578.1 +1 reviewed p.V301 0.970 312 0% 153 37.9% 8 62.5% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PPP1R42 286187 genome.wustl.edu 37 8 67926703 67926703 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013626.2 -1 provisional p.S85* 1.000 181 0% 116 26.7% 0 - - - - HMMPfam_LRR_1,superfamily_SSF52058 CSPP1 79848 genome.wustl.edu 37 8 67998307 67998307 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077204.1 +1 validated p.E125* 1.000 195 0% 151 28.5% 2 0% - - - NULL CSPP1 79848 genome.wustl.edu 37 8 68049689 68049689 + Splice_Site SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077204.1 +1 validated e17-2 1.000 131 0% 60 15% 0 - - - - - CSPP1 79848 genome.wustl.edu 37 8 68066360 68066360 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077204.1 +1 validated p.L774I 1.000 144 0% 87 24.1% 4 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CSPP1 79848 genome.wustl.edu 37 8 68070810 68070810 + Missense_Mutation SNP G G T rs190028385 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077204.1 +1 validated p.K820N 1.000 76 0% 96 35.4% 7 71.4% possibly_damaging(0.566) tolerated(0.17) neutral(0.253) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68150691 68150691 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006421.3 -1 reviewed p.L1059R 1.000 84 0% 69 33.3% 18 38.8% possibly_damaging(0.919) deleterious(0.02) deleterious(0.752) superfamily_ARM-type_fold PREX2 80243 genome.wustl.edu 37 8 68939530 68939530 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024870.2 +1 validated p.R172I 1.000 154 0% 56 30.4% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1 PREX2 80243 genome.wustl.edu 37 8 68950493 68950493 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024870.2 +1 validated p.D269N 1.000 161 0% 58 31% 7 28.5% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SLCO5A1 81796 genome.wustl.edu 37 8 70667685 70667685 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030958.2 -1 reviewed p.S411L 1.000 203 0% 116 26.7% 1 0% possibly_damaging(0.84) tolerated(0.23) neutral(0.363) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO5A1 81796 genome.wustl.edu 37 8 70667767 70667767 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030958.2 -1 reviewed p.F384V 0.980 152 0% 89 27% 1 0% benign(0.085) tolerated(0.51) neutral(0.015) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter PRDM14 63978 genome.wustl.edu 37 8 70978534 70978534 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024504.2 -1 validated p.F373L 0.979 125 0% 151 41.1% 0 - probably_damaging(0.988) deleterious(0.04) deleterious(0.786) HMMSmart_SET EYA1 2138 genome.wustl.edu 37 8 72181992 72181992 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000503.4 -1 reviewed p.A345T 1.000 149 0% 81 32.1% 9 33.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Hydrolase TRPA1 8989 genome.wustl.edu 37 8 72936138 72936138 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007332.2 -1 reviewed p.F1020L 0.036 97 0% 53 20.8% 0 - benign(0) tolerated(0.85) neutral(0.001) NULL TRPA1 8989 genome.wustl.edu 37 8 72945968 72945968 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007332.2 -1 reviewed p.L927M 0.001 132 0% 87 29.9% 0 - possibly_damaging(0.901) tolerated(0.19) neutral(0.406) HMMPfam_Ion_trans TRPA1 8989 genome.wustl.edu 37 8 72951200 72951200 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007332.2 -1 reviewed p.P732H 0.997 117 0% 71 35.2% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL TRPA1 8989 genome.wustl.edu 37 8 72975056 72975056 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007332.2 -1 reviewed p.G262D 1.000 238 0% 128 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat LOC392232 392232 genome.wustl.edu 37 8 73121310 73121310 + RNA SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_037363.2 -1 model NULL 0.593 48 0% 22 31.8% 0 - - - - - LOC392232 392232 genome.wustl.edu 37 8 73122089 73122089 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_037363.2 -1 model NULL 0.997 45 0% 18 27.8% 0 - - - - - KCNB2 9312 genome.wustl.edu 37 8 73848394 73848394 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004770.2 +1 reviewed p.V268 1.000 141 0% 72 33.3% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 RDH10 157506 genome.wustl.edu 37 8 74209448 74209448 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172037.3 +1 validated p.E103D 1.000 106 0% 200 30.5% 21 42.8% benign(0.232) tolerated(0.14) neutral(0.273) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains LY96 23643 genome.wustl.edu 37 8 74922307 74922307 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015364.3 +1 validated p.E92* 0.972 197 0% 79 29.1% 14 0% - - - HMMPfam_E1_DerP2_DerF2,HMMSmart_SM00737 ZFHX4 79776 genome.wustl.edu 37 8 77690553 77690553 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024721.4 +1 validated p.S1042L 0.999 65 0% 36 30.6% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00451,HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77763270 77763270 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024721.4 +1 validated p.P1326 0.000 95 0% 69 36.2% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77763816 77763816 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024721.4 +1 validated p.K1508N 1.000 41 0% 24 37.5% 0 - benign(0.189) - - HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77764911 77764911 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024721.4 +1 validated p.F1873L 1.000 36 0% 17 47.1% 0 - benign(0.016) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77765372 77765372 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024721.4 +1 validated p.S2027Y 0.998 36 0% 27 22.2% 0 - probably_damaging(0.959) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77766074 77766074 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024721.4 +1 validated p.R2261Q 0.993 93 0% 72 36.1% 0 - probably_damaging(0.968) - - superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77767449 77767449 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024721.4 +1 validated p.P2719 0.051 70 0% 43 32.6% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77768158 77768158 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024721.4 +1 validated p.G2956R 0.992 67 0% 52 11.5% 0 - possibly_damaging(0.948) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77775556 77775556 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024721.4 +1 validated p.I3157 1.000 209 0% 110 21.8% 0 - - - - NULL PKIA 5569 genome.wustl.edu 37 8 79510760 79510760 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006823.2 +1 reviewed p.I47 1.000 83 0% 35 20% 2 0% - - - HMMPfam_PKI PAG1 55824 genome.wustl.edu 37 8 81889139 81889139 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018440.3 -1 reviewed p.I313 1.000 63 0% 26 34.6% 1 0% - - - NULL PAG1 55824 genome.wustl.edu 37 8 81897467 81897467 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018440.3 -1 reviewed p.S140 0.000 85 0% 37 43.2% 6 0% - - - NULL PMP2 5375 genome.wustl.edu 37 8 82357192 82357192 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002677.3 -1 validated p.L36V 0.994 266 0% 113 30.1% 0 - possibly_damaging(0.775) tolerated(1) neutral(0.288) HMMPfam_Lipocalin,superfamily_Lipocalins ZFAND1 79752 genome.wustl.edu 37 8 82630419 82630419 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024699.2 -1 validated p.F32L 1.000 187 0% 376 29.8% 27 40.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-AN1,HMMSmart_SM00154 CA3 761 genome.wustl.edu 37 8 86360301 86360301 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005181.3 +1 reviewed p.N234 0.665 46 0% 41 36.6% 1 0% - - - HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd ATP6V0D2 245972 genome.wustl.edu 37 8 87151759 87151759 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152565.1 +1 validated p.L126M 1.000 90 0% 53 24.5% 0 - benign(0.012) tolerated(0.07) neutral(0.320) HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d WWP1 11059 genome.wustl.edu 37 8 87473462 87473462 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007013.3 +1 validated p.E837* 1.000 149 0% 79 25.3% 20 25% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain CPNE3 8895 genome.wustl.edu 37 8 87541180 87541180 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003909.3 +1 reviewed p.R47H 1.000 191 0% 104 30.8% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CPNE3 8895 genome.wustl.edu 37 8 87544736 87544736 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003909.3 +1 reviewed e4-1 1.000 61 0% 52 36.5% 0 - - - - - CPNE3 8895 genome.wustl.edu 37 8 87563431 87563431 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003909.3 +1 reviewed p.M363I 0.907 212 0% 174 30.5% 14 21.4% benign(0) tolerated(0.5) neutral(0.010) HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 CNGB3 54714 genome.wustl.edu 37 8 87644998 87644998 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019098.4 -1 reviewed p.F434L 1.000 99 0% 31 22.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CNGB3 54714 genome.wustl.edu 37 8 87679354 87679354 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019098.4 -1 reviewed p.L217 0.485 111 0% 120 37.5% 0 - - - - superfamily_Voltage-gated potassium channels CNGB3 54714 genome.wustl.edu 37 8 87751919 87751919 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019098.4 -1 reviewed p.P59S 0.035 276 0% 248 30.2% 0 - benign(0.082) deleterious(0.01) neutral(0.412) NULL CNBD1 168975 genome.wustl.edu 37 8 88365876 88365876 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173538.2 +1 provisional p.K389Q 0.043 98 0% 26 26.9% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_cNMP_binding,superfamily_cNMP_binding MMP16 4325 genome.wustl.edu 37 8 89198769 89198769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005941.4 -1 reviewed p.H114N 1.000 129 0% 147 13.6% 0 - benign(0) tolerated(1) - NULL NBN 4683 genome.wustl.edu 37 8 90983450 90983450 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002485.4 -1 reviewed p.R218I 1.000 239 0% 127 25.2% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DECR1 1666 genome.wustl.edu 37 8 91063912 91063912 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001359.1 +1 reviewed p.K298T 1.000 97 0% 56 41.1% 151 50.9% - - - superfamily_NAD(P)-bd LRRC69 100130742 genome.wustl.edu 37 8 92231139 92231139 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001129890.1 +1 provisional p.L319M 0.585 201 0% 87 26.4% 0 - possibly_damaging(0.765) tolerated(0.13) deleterious(0.536) NULL RUNX1T1 862 genome.wustl.edu 37 8 93017381 93017381 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175634.1 -1 reviewed p.D235N 1.000 166 0% 63 27% 0 - possibly_damaging(0.484) deleterious(0.02) deleterious(0.543) NULL RBM12B 389677 genome.wustl.edu 37 8 94747132 94747132 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203390.2 -1 validated p.E503K 0.092 103 0% 132 27.3% 13 69.2% benign(0.055) tolerated(0.05) neutral(0.349) NULL TMEM67 91147 genome.wustl.edu 37 8 94776139 94776139 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153704.5 +1 reviewed p.S159Y 0.602 214 0% 176 27.3% 6 33.3% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) superfamily_Growth factor receptor domain TMEM67 91147 genome.wustl.edu 37 8 94797485 94797485 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153704.5 +1 reviewed p.F389 0.488 175 0% 154 24.7% 4 75% - - - HMMPfam_Meckelin TMEM67 91147 genome.wustl.edu 37 8 94803495 94803495 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153704.5 +1 reviewed p.S508Y 1.000 83 1.2% 44 31.8% 8 37.5% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_Meckelin TMEM67 91147 genome.wustl.edu 37 8 94822105 94822105 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153704.5 +1 reviewed p.I918 1.000 66 0% 65 26.2% 5 60% - - - HMMPfam_Meckelin CDH17 1015 genome.wustl.edu 37 8 95188800 95188800 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144663.1 -1 reviewed p.Y131 0.890 235 0% 151 29.8% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like RAD54B 25788 genome.wustl.edu 37 8 95390494 95390494 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012415.2 -1 reviewed p.K810T 1.000 82 0% 108 38.9% 3 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL RAD54B 25788 genome.wustl.edu 37 8 95479709 95479709 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012415.2 -1 reviewed p.F20C 1.000 267 0% 211 24.2% 5 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KIAA1429 25962 genome.wustl.edu 37 8 95511732 95511732 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015496.3 -1 validated p.S1367Y 1.000 106 0% 98 26.5% 4 0% probably_damaging(0.982) tolerated(0.06) deleterious(0.749) NULL KIAA1429 25962 genome.wustl.edu 37 8 95522758 95522758 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015496.3 -1 validated p.Q1171 1.000 139 0% 53 43.4% 26 53.8% - - - NULL KIAA1429 25962 genome.wustl.edu 37 8 95523514 95523514 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015496.3 -1 validated p.E1097* 1.000 58 0% 35 37.1% 11 9% - - - NULL KIAA1429 25962 genome.wustl.edu 37 8 95539136 95539136 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015496.3 -1 validated p.R446C 1.000 98 0% 57 19.3% 10 40% possibly_damaging(0.772) deleterious(0.05) deleterious(0.632) NULL ESRP1 54845 genome.wustl.edu 37 8 95653675 95653675 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017697.3 +1 validated p.K43 1.000 86 0% 156 32.7% 49 59.1% - - - NULL UQCRB 7381 genome.wustl.edu 37 8 97243309 97243309 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006294.3 -1 reviewed p.E104K 1.000 110 0% 81 35.8% 546 37.3% unknown(0) deleterious(0.01) - HMMPfam_UCR_14kD,superfamily_14 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) MTERFD1 51001 genome.wustl.edu 37 8 97263222 97263222 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015942.3 -1 provisional p.D197Y 1.000 204 0% 159 28.9% 22 27.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_mTERF,HMMSmart_SM00733 CPQ 10404 genome.wustl.edu 37 8 97797477 97797477 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016134.2 +1 provisional p.E118* 1.000 109 0% 46 30.4% 15 0% - - - NULL CPQ 10404 genome.wustl.edu 37 8 98155368 98155368 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016134.2 +1 provisional p.S459Y 0.997 248 0.4% 116 30.2% 30 3.3% possibly_damaging(0.837) deleterious(0) deleterious(0.764) superfamily_SSF53187 TSPYL5 85453 genome.wustl.edu 37 8 98289179 98289179 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033512.2 -1 validated p.F298 0.059 86 0% 148 27.7% 1 0% - - - HMMPfam_NAP MATN2 4147 genome.wustl.edu 37 8 99045299 99045299 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002380.3 +1 reviewed p.D871Y 1.000 225 0% 104 27.9% 36 2.7% probably_damaging(0.996) tolerated(0.51) deleterious(0.471) NULL KCNS2 3788 genome.wustl.edu 37 8 99440341 99440341 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020697.2 +1 provisional p.R45H 1.000 20 0% 40 27.5% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain VPS13B 157680 genome.wustl.edu 37 8 100115340 100115340 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017890.3 +1 reviewed p.D191G 1.000 173 0% 85 21.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL VPS13B 157680 genome.wustl.edu 37 8 100128048 100128048 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017890.3 +1 reviewed p.G295S 1.000 117 0% 43 32.6% 1 0% benign(0.29) tolerated(0.5) neutral(0.099) NULL VPS13B 157680 genome.wustl.edu 37 8 100182285 100182285 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017890.3 +1 reviewed p.G743* 1.000 215 0% 217 27.6% 2 50% - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100205264 100205264 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017890.3 +1 reviewed p.N832H 1.000 119 0% 90 28.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS13B 157680 genome.wustl.edu 37 8 100789005 100789005 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017890.3 +1 reviewed p.S2442Y 1.000 151 0% 86 25.6% 1 0% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL VPS13B 157680 genome.wustl.edu 37 8 100883724 100883724 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017890.3 +1 reviewed p.D3873 0.852 47 0% 50 38% 15 46.6% - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100883847 100883847 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017890.3 +1 reviewed p.I3914 0.752 73 0% 48 25% 30 30% - - - NULL RGS22 26166 genome.wustl.edu 37 8 100994253 100994253 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015668.3 -1 validated p.A1091G 1.000 138 0% 102 33.3% 0 - probably_damaging(0.971) tolerated(0.33) neutral(0.437) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS RGS22 26166 genome.wustl.edu 37 8 101092434 101092434 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015668.3 -1 validated p.K89N 0.430 261 0% 142 26.8% 0 - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) NULL SPAG1 6674 genome.wustl.edu 37 8 101196879 101196879 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003114.3 +1 reviewed p.F207V 0.223 115 0% 64 26.6% 2 50% benign(0) tolerated(0.51) neutral(0.009) NULL RNF19A 25897 genome.wustl.edu 37 8 101271291 101271291 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015435.3 -1 reviewed p.G670 0.518 240 0% 114 30.7% 17 35.2% - - - NULL SNX31 169166 genome.wustl.edu 37 8 101625286 101625286 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152628.3 -1 validated p.R154 0.298 136 0% 99 33.3% 1 0% - - - NULL UBR5 51366 genome.wustl.edu 37 8 103323690 103323690 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015902.4 -1 reviewed p.T818N 1.000 85 0% 69 34.8% 5 20% possibly_damaging(0.722) deleterious(0.01) deleterious(0.667) NULL AZIN1 51582 genome.wustl.edu 37 8 103851010 103851010 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015878.4 -1 reviewed p.I137M 0.363 347 0% 261 32.2% 69 44.9% benign(0) tolerated(0.25) neutral(0.037) HMMPfam_Orn_Arg_deC_N,superfamily_SSF51419 FZD6 8323 genome.wustl.edu 37 8 104337001 104337001 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003506.3 +1 reviewed p.D223Y 1.000 95 0% 52 19.2% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Frizzled DCAF13 25879 genome.wustl.edu 37 8 104439410 104439410 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015420.6 +1 validated p.R337I 1.000 133 0% 105 31.4% 37 37.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_WD40,superfamily_WD40_like DCAF13 25879 genome.wustl.edu 37 8 104452432 104452432 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015420.6 +1 validated p.I492T 0.996 302 0% 151 29.1% 92 50% possibly_damaging(0.905) deleterious(0) deleterious(0.804) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 RIMS2 9699 genome.wustl.edu 37 8 104948787 104948787 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100117.1 +1 validated p.N795S 1.000 75 0% 53 43.4% 0 - benign(0) tolerated(1) - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) DPYS 1807 genome.wustl.edu 37 8 105405062 105405062 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001385.2 -1 reviewed p.R465* 0.996 91 0% 51 27.5% 0 - - - - superfamily_Metalo_hydrolase ZFPM2 23414 genome.wustl.edu 37 8 106573705 106573705 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012082.3 +1 reviewed p.S139Y 1.000 82 0% 44 27.3% 0 - benign(0.057) deleterious(0.02) neutral(0.387) NULL ZFPM2 23414 genome.wustl.edu 37 8 106801039 106801039 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012082.3 +1 reviewed p.A209V 1.000 128 0% 82 34.1% 0 - benign(0.003) tolerated(0.22) neutral(0.042) NULL ZFPM2 23414 genome.wustl.edu 37 8 106814623 106814623 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012082.3 +1 reviewed p.T771 0.996 64 0% 39 30.8% 0 - - - - NULL ABRA 137735 genome.wustl.edu 37 8 107773353 107773353 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139166.4 -1 validated p.R353H 1.000 136 0% 122 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANGPT1 284 genome.wustl.edu 37 8 108359294 108359294 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001146.3 -1 reviewed p.S110L 1.000 172 0% 64 35.9% 0 - benign(0.005) - - NULL RSPO2 340419 genome.wustl.edu 37 8 109094857 109094857 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178565.4 -1 validated p.R4C 1.000 63 0% 125 38.4% 0 - unknown(0) deleterious(0) - NULL EIF3E 3646 genome.wustl.edu 37 8 109215330 109215330 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001568.2 -1 validated p.G394D 1.000 195 0% 99 28.3% 455 45% unknown(0) tolerated(0.27) - "HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" EIF3E 3646 genome.wustl.edu 37 8 109226942 109226942 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001568.2 -1 validated p.L319I 1.000 94 0% 54 25.9% 369 9.7% benign(0.054) tolerated(0.56) neutral(0.010) HMMPfam_PCI EIF3E 3646 genome.wustl.edu 37 8 109254056 109254056 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001568.2 -1 validated p.K59N 1.000 137 0% 92 40.2% 260 52.6% possibly_damaging(0.508) deleterious(0) deleterious(0.615) HMMPfam_eIF3_N TMEM74 157753 genome.wustl.edu 37 8 109796916 109796916 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153015.1 -1 provisional p.E138K 0.061 95 0% 153 30.7% 0 - benign(0.007) tolerated(0.73) neutral(0.002) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110424623 110424623 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177531.4 +1 validated p.L739V 1.000 114 0% 66 28.8% 20 65% benign(0.123) tolerated(0.23) neutral(0.052) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110456078 110456078 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177531.4 +1 validated p.E1580* 1.000 134 0% 59 22% 9 33.3% - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PKHD1L1 93035 genome.wustl.edu 37 8 110520054 110520054 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177531.4 +1 validated p.R3719S 1.000 99 0% 62 30.6% 85 47% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110527510 110527510 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177531.4 +1 validated p.E3889* 0.643 200 0% 61 29.5% 81 41.9% - - - NULL SYBU 55638 genome.wustl.edu 37 8 110587401 110587401 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099744.1 -1 validated p.E576* 1.000 74 0% 39 35.9% 54 50% - - - NULL CSMD3 114788 genome.wustl.edu 37 8 113267612 113267612 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198123.1 -1 validated p.E3303* 1.000 183 0% 79 31.6% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113318320 113318320 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198123.1 -1 validated p.R2663* 0.999 145 0% 80 28.7% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113323349 113323349 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198123.1 -1 validated p.I2581 1.000 67 0% 26 19.2% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113323394 113323396 + Frame_Shift_Del DEL AGC AGC - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198123.1 -1 validated p.A2566fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113331157 113331157 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198123.1 -1 validated p.C2423 1.000 113 0% 46 30.4% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113347619 113347619 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198123.1 -1 validated p.Q2368H 1.000 145 0.7% 61 24.6% 0 - benign(0.123) tolerated(0.13) neutral(0.263) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113657379 113657379 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198123.1 -1 validated p.S1090Y 1.000 140 0% 121 36.4% 0 - possibly_damaging(0.928) tolerated(0.42) neutral(0.390) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 114111073 114111073 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198123.1 -1 validated p.D277Y 1.000 169 0% 62 30.6% 0 - unknown(0) tolerated(0.68) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TRPS1 7227 genome.wustl.edu 37 8 116616971 116616971 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014112.2 -1 reviewed p.K409Q 0.997 218 0% 123 30.9% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SLC30A8 169026 genome.wustl.edu 37 8 118165286 118165286 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173851.2 +1 reviewed p.S125 0.213 107 0% 80 30% 0 - - - - HMMPfam_Cation_efflux TNFRSF11B 4982 genome.wustl.edu 37 8 119936888 119936888 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002546.3 -1 reviewed p.D311Y 1.000 211 0% 135 12.6% 0 - possibly_damaging(0.908) deleterious(0) deleterious(0.806) HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain ENPP2 5168 genome.wustl.edu 37 8 120594793 120594793 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006209.3 -1 reviewed p.L583 0.996 126 0% 77 32.5% 17 0% - - - NULL ENPP2 5168 genome.wustl.edu 37 8 120596268 120596268 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006209.3 -1 reviewed p.K515N 1.000 188 0% 155 32.3% 21 14.2% benign(0.247) tolerated(0.11) neutral(0.297) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like COL14A1 7373 genome.wustl.edu 37 8 121279137 121279137 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000434620 +1 known p.E843* 0.000 246 0% 124 30.6% 0 - - - - NULL HAS2 3037 genome.wustl.edu 37 8 122626715 122626715 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005328.2 -1 reviewed p.I431 0.843 62 0% 42 33.3% 11 54.5% - - - NULL C8orf76 84933 genome.wustl.edu 37 8 124251331 124251331 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032847.1 -1 predicted p.K57N 0.889 233 0% 492 33.7% 22 54.5% benign(0.101) tolerated(0.17) neutral(0.067) superfamily_SSF48452 ZHX1 11244 genome.wustl.edu 37 8 124265801 124265801 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017926.1 -1 reviewed p.N796D 1.000 172 0% 183 34.4% 16 43.7% probably_damaging(0.991) tolerated(0.74) neutral(0.446) HMMSmart_HOX,superfamily_Homeodomain_like ZHX1 11244 genome.wustl.edu 37 8 124267289 124267289 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017926.1 -1 reviewed p.L300I 1.000 136 0% 96 28.1% 18 50% benign(0.139) tolerated(1) neutral(0.012) HMMSmart_HOX,superfamily_Homeodomain_like ZHX1 11244 genome.wustl.edu 37 8 124267333 124267333 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017926.1 -1 reviewed p.S285N 1.000 93 0% 84 31% 14 35.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_HOX,superfamily_Homeodomain_like ATAD2 29028 genome.wustl.edu 37 8 124335210 124335210 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014109.3 -1 reviewed p.R1367C 1.000 210 0% 264 33.7% 47 51% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FER1L6 654463 genome.wustl.edu 37 8 125022855 125022855 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039112.2 +1 validated p.F574 0.982 129 0% 77 32.5% 0 - - - - NULL FER1L6 654463 genome.wustl.edu 37 8 125058068 125058068 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039112.2 +1 validated p.L884M 0.719 131 0% 70 32.9% 0 - possibly_damaging(0.922) tolerated(0.05) deleterious(0.717) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FER1L6 654463 genome.wustl.edu 37 8 125081650 125081650 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039112.2 +1 validated p.K1256N 1.000 160 0% 84 27.4% 0 - benign(0.186) tolerated(0.36) neutral(0.038) NULL FER1L6 654463 genome.wustl.edu 37 8 125083797 125083797 + Silent SNP C C T rs142783331 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039112.2 +1 validated p.S1339 0.171 132 0% 48 37.5% 0 - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FER1L6 654463 genome.wustl.edu 37 8 125110086 125110086 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039112.2 +1 validated p.I1615 1.000 102 0% 67 31.3% 0 - - - - HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ENSG00000200304 0 genome.wustl.edu 37 8 131081833 131081833 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000363434 -1 novel NULL 0.061 7 0.000 30 0.267 0 - - - - - ASAP1 50807 genome.wustl.edu 37 8 131191540 131191540 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018482.2 -1 validated p.N239T 1.000 291 0% 129 27.1% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL EFR3A 23167 genome.wustl.edu 37 8 132957062 132957062 + Missense_Mutation SNP G G A rs143933422 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015137.3 +1 validated p.R53Q 1.000 162 0% 49 32.7% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat EFR3A 23167 genome.wustl.edu 37 8 132968094 132968094 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015137.3 +1 validated p.E240* 1.000 291 0% 162 29.6% 8 0% - - - superfamily_ARM repeat OC90 729330 genome.wustl.edu 37 8 133053304 133053304 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080399.2 -1 validated p.K148N 0.019 114 0% 41 22% 0 - probably_damaging(0.969) tolerated(0.15) deleterious(0.652) HMMPfam_Phospholip_A2_1,HMMSmart_SM00085,superfamily_Phospholipase A2 PLA2 HHLA1 10086 genome.wustl.edu 37 8 133090105 133090105 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145095.1 -1 provisional p.L347I 0.062 136 0% 50 28% 0 - benign(0.202) tolerated(0.39) neutral(0.036) NULL HHLA1 10086 genome.wustl.edu 37 8 133107829 133107829 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145095.1 -1 provisional p.D129Y 0.999 154 0% 75 9.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL KCNQ3 3786 genome.wustl.edu 37 8 133150166 133150166 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004519.2 -1 reviewed p.D556N 1.000 86 0% 63 31.7% 0 - probably_damaging(0.979) tolerated(0.21) neutral(0.466) HMMPfam_KCNQ_channel LRRC6 23639 genome.wustl.edu 37 8 133673710 133673710 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012472.3 -1 provisional p.K58N 1.000 81 0% 45 31.1% 2 100% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1 PHF20L1 51105 genome.wustl.edu 37 8 133806667 133806667 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016018.4 +1 validated p.R32Q 1.000 131 0% 43 25.6% 20 0% probably_damaging(0.988) deleterious(0.03) deleterious(0.802) HMMSmart_SM00333,HMMSmart_SM00743,superfamily_Tudor/PWWP/MBT PHF20L1 51105 genome.wustl.edu 37 8 133806824 133806824 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016018.4 +1 validated p.F84L 0.400 114 0% 59 44.1% 12 91.6% benign(0.001) tolerated(0.68) neutral(0.002) superfamily_Tudor/PWWP/MBT PHF20L1 51105 genome.wustl.edu 37 8 133816967 133816967 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016018.4 +1 validated p.R277* 1.000 86 0% 30 30% 26 15.3% - - - NULL TG 7038 genome.wustl.edu 37 8 133931666 133931666 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003235.4 +1 reviewed p.P1475H 0.998 86 0% 47 25.5% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_GCC2_GCC3,superfamily_TNF receptor-like TG 7038 genome.wustl.edu 37 8 133978943 133978943 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003235.4 +1 reviewed e30+1 1.000 88 0% 55 34.5% 0 - - - - - TG 7038 genome.wustl.edu 37 8 134108577 134108577 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003235.4 +1 reviewed p.S2511Y 0.816 73 0% 54 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases ZFAT 57623 genome.wustl.edu 37 8 135490746 135490746 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020863.3 -1 reviewed p.E1237 0.860 28 0% 20 20% 16 6.2% - - - NULL ZFAT 57623 genome.wustl.edu 37 8 135600606 135600606 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020863.3 -1 reviewed p.G866R 1.000 85 0% 57 28.1% 4 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) PatternScan_SUGAR_TRANSPORT_1 KHDRBS3 10656 genome.wustl.edu 37 8 136533530 136533530 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006558.1 +1 provisional p.D47N 1.000 130 0% 79 22.8% 22 45.4% possibly_damaging(0.933) tolerated(0.09) deleterious(0.675) NULL FAM135B 51059 genome.wustl.edu 37 8 139160814 139160814 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015912.3 -1 validated p.E1133K 1.000 171 0% 85 30.6% 0 - unknown(0) - - superfamily_alpha/beta-Hydrolases FAM135B 51059 genome.wustl.edu 37 8 139164616 139164616 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015912.3 -1 validated p.R701Q 0.863 65 0% 38 31.6% 1 100% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL PTK2 5747 genome.wustl.edu 37 8 141840605 141840605 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005607.3 -1 reviewed p.R227Q 1.000 72 0% 44 29.5% 8 50% probably_damaging(0.979) tolerated(0.35) neutral(0.443) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 DENND3 22898 genome.wustl.edu 37 8 142185306 142185306 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014957.2 +1 validated p.E681D 1.000 67 0% 94 47.9% 3 0% benign(0.129) tolerated(0.49) neutral(0.021) NULL LYNX1 66004 genome.wustl.edu 37 8 143857052 143857052 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023946.2 -1 reviewed p.R38H 1.000 77 0% 139 30.9% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_UPAR_LY6,superfamily_Snake toxin-like C8orf31 286122 genome.wustl.edu 37 8 144130655 144130655 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173687.2 +1 predicted p.L129I 0.007 208 0% 278 28.1% 7 85.7% unknown(0) - - NULL LY6H 4062 genome.wustl.edu 37 8 144239858 144239858 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130478.1 -1 validated p.D99N 0.808 87 0% 149 33.6% 1 0% possibly_damaging(0.86) tolerated(0.21) neutral(0.377) HMMPfam_UPAR_LY6,HMMSmart_SM00134,superfamily_Snake toxin-like TOP1MT 116447 genome.wustl.edu 37 8 144407665 144407665 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052963.1 -1 reviewed p.F174 0.998 192 0% 366 27.6% 17 11.7% - - - HMMPfam_Topoisom_I_N,superfamily_TopoI_DNA_bd_euk TSTA3 7264 genome.wustl.edu 37 8 144698298 144698298 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003313.3 -1 reviewed p.I80S 1.000 167 0% 257 23.7% 134 47% benign(0.001) tolerated(0.28) neutral(0.032) HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains PUF60 22827 genome.wustl.edu 37 8 144898867 144898867 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_078480.1 -1 reviewed p.E501D 1.000 197 0% 368 27.7% 470 45.9% possibly_damaging(0.445) tolerated(0.28) neutral(0.177) HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD KIFC2 90990 genome.wustl.edu 37 8 145692647 145692647 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145754.2 +1 provisional p.L131R 0.818 39 0% 70 38.6% 3 0% possibly_damaging(0.861) deleterious(0.03) deleterious(0.698) NULL ZNF252 286101 genome.wustl.edu 37 8 146202106 146202106 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000355436 -1 known p.R581I 0.317 61 0% 17 35.3% 15 46.6% possibly_damaging(0.95) deleterious(0) deleterious(0.838) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C9orf66 157983 genome.wustl.edu 37 9 214595 214595 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152569.2 -1 validated p.E268K 0.008 20 0% 39 28.2% 0 - unknown(0) - - NULL DOCK8 81704 genome.wustl.edu 37 9 428426 428426 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203447.3 +1 reviewed p.S1400Y 1.000 148 0% 104 29.8% 11 0% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL DOCK8 81704 genome.wustl.edu 37 9 443456 443456 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203447.3 +1 reviewed p.E1772D 0.674 270 0% 229 18.8% 16 0% benign(0.001) tolerated(1) - NULL SMARCA2 6595 genome.wustl.edu 37 9 2029101 2029101 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003070.3 +1 reviewed p.L27I 1.000 21 0% 28 21.4% 16 56.2% unknown(0) tolerated(0.15) - NULL SMARCA2 6595 genome.wustl.edu 37 9 2058346 2058346 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003070.3 +1 reviewed p.S468F 1.000 112 0% 72 29.2% 12 33.3% possibly_damaging(0.449) deleterious(0.01) deleterious(0.552) HMMPfam_HSA,HMMSmart_SM00573 SMARCA2 6595 genome.wustl.edu 37 9 2192726 2192726 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003070.3 +1 reviewed p.T1587M 1.000 184 0% 120 38.3% 131 38.1% unknown(0) deleterious(0.03) - NULL RFX3 5991 genome.wustl.edu 37 9 3293110 3293110 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_134428.1 -1 reviewed p.F233C 1.000 137 0% 67 32.8% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_RFX_DNA_binding,superfamily_""Winged helix"" DNA-binding domain" GLIS3 169792 genome.wustl.edu 37 9 4117800 4117800 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042413.1 -1 reviewed p.V560F 1.000 170 0% 267 12% 13 23% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RCL1 10171 genome.wustl.edu 37 9 4834209 4834209 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005772.3 +1 validated p.V176 0.407 109 0% 74 25.7% 22 27.2% - - - HMMPfam_RTC,superfamily_RNA3apos_cycl/enolpyr_transf_A/B JAK2 3717 genome.wustl.edu 37 9 5050746 5050746 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004972.3 +1 reviewed p.E177* 1.000 276 0% 227 32.2% 5 20% - - - HMMSmart_B41 INSL6 11172 genome.wustl.edu 37 9 5185438 5185438 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007179.2 -1 reviewed p.F55 0.000 50 0% 92 42.4% 0 - - - - HMMPfam_Insulin,HMMSmart_IlGF,superfamily_Insulin-like KIAA1432 57589 genome.wustl.edu 37 9 5747338 5747338 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020829.2 +1 validated p.R350C 1.000 169 0% 95 26.3% 8 25% possibly_damaging(0.44) tolerated(0.1) neutral(0.430) superfamily_Amine_DH_B_like KIAA1432 57589 genome.wustl.edu 37 9 5772625 5772625 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020829.2 +1 validated p.G1147 0.247 113 0% 46 32.6% 22 31.8% - - - NULL KIAA1432 57589 genome.wustl.edu 37 9 5772740 5772740 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020829.2 +1 validated p.R1186W 0.982 118 0% 48 37.5% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ERMP1 79956 genome.wustl.edu 37 9 5805644 5805644 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024896.2 -1 validated p.K564Q 1.000 81 0% 78 19.2% 51 45% benign(0.144) tolerated(0.13) neutral(0.265) NULL ERMP1 79956 genome.wustl.edu 37 9 5812195 5812195 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024896.2 -1 validated p.E348D 1.000 187 0% 189 28.6% 45 42.2% benign(0.013) tolerated(0.6) neutral(0.005) HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases MLANA 2315 genome.wustl.edu 37 9 5897631 5897631 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005511.1 +1 validated p.R51Q 0.996 131 0% 57 26.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA2026 158358 genome.wustl.edu 37 9 5922155 5922155 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017969.2 -1 validated p.L1281I 1.000 219 0% 107 29% 11 36.3% probably_damaging(0.981) tolerated(0.36) neutral(0.446) NULL KIAA2026 158358 genome.wustl.edu 37 9 5929159 5929159 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017969.2 -1 validated p.G795R 1.000 110 0% 47 27.7% 2 100% unknown(0) - - NULL KIAA2026 158358 genome.wustl.edu 37 9 5968511 5968511 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017969.2 -1 validated p.R574C 0.409 150 0% 85 36.5% 4 75% benign(0.006) deleterious(0.03) neutral(0.364) NULL RANBP6 26953 genome.wustl.edu 37 9 6014395 6014395 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012416.2 -1 validated p.L405I 1.000 84 0% 120 24.2% 7 28.5% probably_damaging(0.986) tolerated(0.07) deleterious(0.754) HMMPfam_HEAT,superfamily_ARM-type_fold RANBP6 26953 genome.wustl.edu 37 9 6014708 6014708 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012416.2 -1 validated p.P300 0.974 57 0% 133 30.8% 7 28.5% - - - superfamily_ARM-type_fold UHRF2 115426 genome.wustl.edu 37 9 6506173 6506173 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152896.1 +1 reviewed p.G801 1.000 181 0% 192 34.9% 44 34% - - - NULL GLDC 2731 genome.wustl.edu 37 9 6553497 6553497 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000170.2 -1 reviewed p.L776 0.993 174 0% 116 32.8% 2 0% - - - superfamily_PyrdxlP-dep_Trfase_major GLDC 2731 genome.wustl.edu 37 9 6554674 6554674 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000170.2 -1 reviewed p.I770 0.761 64 0% 43 34.9% 2 0% - - - superfamily_PyrdxlP-dep_Trfase_major PTPRD 5789 genome.wustl.edu 37 9 8465627 8465627 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002839.3 -1 reviewed p.E1185* 1.000 139 0% 62 21% 3 66.6% - - - NULL PTPRD 5789 genome.wustl.edu 37 9 8484270 8484270 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002839.3 -1 reviewed p.R1088C 1.000 127 0% 106 25.5% 6 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00060,superfamily_Fibronectin type III LURAP1L 286343 genome.wustl.edu 37 9 12775796 12775796 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203403.1 +1 validated p.L28I 1.000 7 0.000 19 0.316 5 20% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL MPDZ 8777 genome.wustl.edu 37 9 13147638 13147638 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003829.3 -1 validated p.R1217I 1.000 147 0% 54 35.2% 5 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MPDZ 8777 genome.wustl.edu 37 9 13192200 13192200 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003829.3 -1 validated p.R633Q 1.000 236 0% 82 30.5% 6 66.6% benign(0.076) tolerated(0.09) neutral(0.302) HMMSmart_SM00228,superfamily_PDZ domain-like FREM1 158326 genome.wustl.edu 37 9 14841516 14841516 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144966.5 -1 reviewed p.E604* 1.000 74 0% 33 39.4% 0 - - - - NULL TTC39B 158219 genome.wustl.edu 37 9 15182370 15182370 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152574.2 -1 validated p.R487I 1.000 174 0.6% 100 31% 3 33.3% probably_damaging(0.991) tolerated(0.15) deleterious(0.685) HMMPfam_Deme6,superfamily_TPR-like SNAPC3 6619 genome.wustl.edu 37 9 15453183 15453183 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039697.1 +1 validated p.V320 0.998 151 0% 130 32.3% 44 43.1% - - - NULL PSIP1 11168 genome.wustl.edu 37 9 15466799 15466799 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128217.1 -1 validated p.N493K 0.999 525 0% 259 36.3% 88 50% possibly_damaging(0.643) tolerated(0.39) neutral(0.241) NULL PSIP1 11168 genome.wustl.edu 37 9 15469316 15469316 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128217.1 -1 validated p.R351Q 1.000 118 0% 55 27.3% 55 45.4% possibly_damaging(0.867) deleterious(0.01) deleterious(0.742) NULL PSIP1 11168 genome.wustl.edu 37 9 15490064 15490064 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128217.1 -1 validated p.K70Q 1.000 239 0% 154 29.2% 34 55.8% benign(0.031) deleterious(0.04) neutral(0.350) HMMPfam_PWWP,superfamily_Tudor/PWWP/MBT C9orf93 203238 genome.wustl.edu 37 9 15594145 15594145 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173550.2 +1 predicted p.R217I 1.000 90 0% 71 22.5% 0 - benign(0.113) deleterious(0.01) neutral(0.415) NULL C9orf93 203238 genome.wustl.edu 37 9 15777644 15777644 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000449575 +1 known p.R146K 1.000 80 0% 107 26.2% 0 - - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15920349 15920349 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173550.2 +1 predicted p.R1228* 1.000 95 0% 42 21.4% 5 60% - - - NULL BNC2 54796 genome.wustl.edu 37 9 16727882 16727882 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017637.5 -1 validated p.F81 1.000 186 0% 347 29.7% 0 - - - - NULL CNTLN 54875 genome.wustl.edu 37 9 17366631 17366631 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017738.2 +1 validated p.E635* 1.000 69 0% 56 28.6% 1 0% - - - NULL FAM154A 158297 genome.wustl.edu 37 9 18928784 18928784 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153707.1 -1 predicted p.E231* 0.998 215 0% 110 31.8% 0 - - - - NULL FAM154A 158297 genome.wustl.edu 37 9 18941689 18941689 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153707.1 -1 predicted p.R123W 1.000 142 0% 90 32.2% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL FAM154A 158297 genome.wustl.edu 37 9 18941746 18941746 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153707.1 -1 predicted p.T104P 0.298 139 0% 91 29.7% 0 - possibly_damaging(0.898) deleterious(0.01) deleterious(0.760) NULL HAUS6 54801 genome.wustl.edu 37 9 19094394 19094394 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017645.3 -1 provisional e3-1 0.696 78 0% 58 24.1% 0 - - - - - HAUS6 54801 genome.wustl.edu 37 9 19102620 19102620 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017645.3 -1 provisional p.E10D 1.000 15 0% 31 25.8% 5 40% probably_damaging(0.979) tolerated(0.06) deleterious(0.744) NULL DENND4C 55667 genome.wustl.edu 37 9 19316490 19316490 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017925.4 +1 provisional p.K285N 1.000 148 0% 73 24.7% 1 0% benign(0.174) tolerated(0.7) neutral(0.018) NULL DENND4C 55667 genome.wustl.edu 37 9 19316743 19316743 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017925.4 +1 provisional p.A335 0.952 113 0% 56 26.8% 1 0% - - - HMMPfam_dDENN,HMMSmart_SM00801 DENND4C 55667 genome.wustl.edu 37 9 19328033 19328033 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017925.4 +1 provisional p.K473T 1.000 59 0% 61 24.6% 2 0% benign(0.003) tolerated(0.58) neutral(0.005) NULL DENND4C 55667 genome.wustl.edu 37 9 19352616 19352616 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017925.4 +1 provisional p.F1293L 1.000 178 0% 121 25.6% 9 33.3% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) NULL DENND4C 55667 genome.wustl.edu 37 9 19358036 19358036 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017925.4 +1 provisional p.R1395* 1.000 92 0% 56 33.9% 7 28.5% - - - NULL MLLT3 4300 genome.wustl.edu 37 9 20414218 20414218 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004529.2 -1 validated p.K209R 1.000 388 0% 169 24.9% 4 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KIAA1797 54914 genome.wustl.edu 37 9 20781795 20781795 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017794.3 +1 validated p.I355T 0.559 165 0% 138 33.3% 7 42.8% benign(0.001) tolerated(0.06) neutral(0.323) NULL KIAA1797 54914 genome.wustl.edu 37 9 20981658 20981658 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017794.3 +1 validated p.I1537M 1.000 137 0% 42 23.8% 31 54.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM-type_fold KIAA1797 54914 genome.wustl.edu 37 9 20988420 20988420 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017794.3 +1 validated p.L1666F 0.995 153 0% 55 30.9% 40 50% possibly_damaging(0.502) tolerated(0.18) neutral(0.224) NULL IFNW1 3467 genome.wustl.edu 37 9 21141309 21141309 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002177.1 -1 provisional p.I87 0.030 66 0% 31 35.5% 0 - - - - HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNA21 3452 genome.wustl.edu 37 9 21166381 21166381 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002175.2 -1 validated p.I77 0.000 184 0% 95 40% 0 - - - - HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNA2 3440 genome.wustl.edu 37 9 21384886 21384886 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000605.3 -1 validated p.R148I 0.059 245 0% 134 23.9% 0 - possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_Interferon,HMMSmart_IFabd,PatternScan_INTERFERON_A_B_D,superfamily_4_helix_cytokine IFNE 338376 genome.wustl.edu 37 9 21481373 21481373 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176891.4 -1 validated p.E107D 0.000 207 0% 84 34.5% 0 - possibly_damaging(0.493) tolerated(0.83) neutral(0.165) HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine PLAA 9373 genome.wustl.edu 37 9 26905646 26905646 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031689.2 -1 validated p.T751A 1.000 147 0% 118 39.8% 37 54% possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) HMMPfam_PUL,superfamily_ARM-type_fold PLAA 9373 genome.wustl.edu 37 9 26923269 26923269 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031689.2 -1 validated p.E316* 1.000 171 0% 139 13.7% 35 5.7% - - - NULL IFT74 80173 genome.wustl.edu 37 9 26990133 26990133 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099222.1 +1 validated p.L176R 1.000 92 0% 41 34.1% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC19 64922 genome.wustl.edu 37 9 26996331 26996331 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022901.2 -1 validated p.S254 0.015 172 0% 74 24.3% 0 - - - - NULL LRRC19 64922 genome.wustl.edu 37 9 26996404 26996404 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022901.2 -1 validated p.F230C 0.006 129 0% 66 27.3% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_L domain-like LINGO2 158038 genome.wustl.edu 37 9 27950434 27950434 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152570.1 -1 provisional p.S79* 0.503 169 0% 76 30.3% 0 - - - - superfamily_SSF52058 DDX58 23586 genome.wustl.edu 37 9 32477073 32477073 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014314.3 -1 reviewed p.L611I 0.998 271 0% 123 23.6% 9 55.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX58 23586 genome.wustl.edu 37 9 32480217 32480217 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014314.3 -1 reviewed p.E592K 1.000 126 0% 65 29.2% 6 16.6% benign(0.196) tolerated(0.06) neutral(0.341) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX58 23586 genome.wustl.edu 37 9 32488794 32488794 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014314.3 -1 reviewed p.A297 0.001 148 0% 54 29.6% 4 75% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TOPORS 10210 genome.wustl.edu 37 9 32544158 32544158 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005802.3 -1 reviewed p.K122T 1.000 113 0% 112 34.8% 10 40% unknown(0) tolerated(0.08) - HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box TAF1L 138474 genome.wustl.edu 37 9 32630292 32630292 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153809.2 -1 provisional p.E1762D 1.000 247 0% 246 26.8% 0 - possibly_damaging(0.62) tolerated(0.24) neutral(0.254) NULL TAF1L 138474 genome.wustl.edu 37 9 32631459 32631459 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153809.2 -1 provisional p.K1373N 1.000 266 0% 171 38.6% 4 0% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) NULL TAF1L 138474 genome.wustl.edu 37 9 32632006 32632006 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153809.2 -1 provisional p.R1191Q 0.998 215 0% 152 29.6% 5 0% possibly_damaging(0.628) deleterious(0.03) deleterious(0.584) NULL TAF1L 138474 genome.wustl.edu 37 9 32633905 32633905 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153809.2 -1 provisional p.R558Q 1.000 280 0% 116 32.8% 1 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL TMEM215 401498 genome.wustl.edu 37 9 32784796 32784796 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_212558.2 +1 validated p.I205 1.000 19 0% 17 58.8% 2 0% - - - NULL APTX 54840 genome.wustl.edu 37 9 32984659 32984659 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175073.1 -1 reviewed p.R247Q 0.998 133 0% 68 23.5% 68 35.2% possibly_damaging(0.766) tolerated(0.11) deleterious(0.555) HMMPfam_HIT,superfamily_HIT-like,PatternScan_HIT_1 NFX1 4799 genome.wustl.edu 37 9 33294587 33294587 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002504.3 +1 reviewed p.I65 0.191 67 0% 98 33.7% 14 42.8% - - - NULL NFX1 4799 genome.wustl.edu 37 9 33342822 33342822 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002504.3 +1 reviewed p.R732C 1.000 164 0% 97 26.8% 43 30.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-NF-X1,HMMSmart_SM00438 NOL6 65083 genome.wustl.edu 37 9 33467499 33467499 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022917.4 -1 reviewed p.D540N 0.854 151 0% 159 37.1% 30 33.3% benign(0.001) tolerated(0.52) neutral(0.009) HMMPfam_Nrap ANKRD18B 441459 genome.wustl.edu 37 9 33529031 33529031 + Missense_Mutation SNP A A C rs2890510 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001718334.2 +1 model p.I247L 0.979 135 0% 191 31.9% 0 - benign(0) tolerated(0.66) neutral(0.003) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD18B 441459 genome.wustl.edu 37 9 33533527 33533527 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001718334.2 +1 model p.V324I 0.001 274 0% 181 23.8% 0 - benign(0.017) tolerated(0.3) neutral(0.029) HMMPfam_Ank,superfamily_Ankyrin repeat ANKRD18B 441459 genome.wustl.edu 37 9 33536929 33536929 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001718334.2 +1 model p.R393Q 0.001 159 0% 97 25.8% 0 - benign(0.247) tolerated(0.48) neutral(0.036) NULL ANKRD18B 441459 genome.wustl.edu 37 9 33558129 33558129 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001718334.2 +1 model p.D868Y 0.045 122 0% 51 37.3% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL UBE2R2 54926 genome.wustl.edu 37 9 33900191 33900191 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017811.3 +1 reviewed p.S95L 1.000 139 0% 107 29% 118 33.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UQ_con,HMMSmart_SM00212,PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBC-like UBAP2 55833 genome.wustl.edu 37 9 33927891 33927891 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018449.2 -1 reviewed p.S759P 0.953 58 0% 56 23.2% 21 33.3% unknown(0) tolerated(0.26) - NULL UBAP2 55833 genome.wustl.edu 37 9 33944512 33944512 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018449.2 -1 reviewed p.R466* 1.000 100 0% 70 42.9% 10 30% - - - NULL UBAP2 55833 genome.wustl.edu 37 9 33989034 33989034 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018449.2 -1 reviewed p.E127* 1.000 311 0% 224 26.8% 3 0% - - - NULL DCAF12 25853 genome.wustl.edu 37 9 34125241 34125241 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015397.3 -1 reviewed p.R38I 1.000 82 0% 116 33.6% 38 42.1% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL KIAA1161 57462 genome.wustl.edu 37 9 34372474 34372474 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000297625 -1 known p.V122 1.000 14 0% 23 17.4% 2 0% - - - NULL DNAI1 27019 genome.wustl.edu 37 9 34459021 34459021 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012144.2 +1 reviewed p.A6 0.000 105 0% 193 35.2% 0 - - - - NULL DNAI1 27019 genome.wustl.edu 37 9 34493322 34493322 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012144.2 +1 reviewed p.S271Y 1.000 78 0% 65 27.7% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) superfamily_WD40_like LOC100288715 100288715 genome.wustl.edu 37 9 34552184 34552184 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342889.1 +1 model p.A46V 0.066 50 0% 63 20.6% 3 0% unknown(0) tolerated(0.59) - NULL FAM205A 259308 genome.wustl.edu 37 9 34726224 34726224 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001141917.1 -1 validated p.S338Y 0.010 114 0% 92 31.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ENSG00000232067 0 genome.wustl.edu 37 9 34835440 34835440 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000455647 -1 known p.L17I 0.985 76 0% 53 30.2% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL KIAA1045 23349 genome.wustl.edu 37 9 34976576 34976576 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015297.1 +1 validated p.A230T 1.000 46 0% 60 31.7% 0 - benign(0) tolerated(0.38) neutral(0.018) NULL DNAJB5 25822 genome.wustl.edu 37 9 34997191 34997191 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135005.1 +1 validated p.R400C 1.000 84 0% 118 35.6% 25 64% probably_damaging(0.984) tolerated(0.05) deleterious(0.776) HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain C9orf131 138724 genome.wustl.edu 37 9 35043141 35043141 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203299.2 +1 validated p.I172S 0.999 130 0% 160 39.4% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL FANCG 2189 genome.wustl.edu 37 9 35075315 35075315 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004629.1 -1 reviewed p.E481K 1.000 111 0% 182 37.9% 26 34.6% possibly_damaging(0.83) tolerated(0.15) deleterious(0.556) superfamily_TPR-like FAM214B 80256 genome.wustl.edu 37 9 35105274 35105274 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025182.2 -1 predicted p.E521K 1.000 70 0% 158 31.6% 12 50% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL LOC730110 730110 genome.wustl.edu 37 9 35148317 35148317 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342891.1 -1 model p.E289* 0.208 66 0% 52 25% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CA9 768 genome.wustl.edu 37 9 35676201 35676201 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001216.2 +1 reviewed p.E249K 1.000 25 0% 39 25.6% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd,PatternScan_ALPHA_CA_1 TLN1 7094 genome.wustl.edu 37 9 35700370 35700370 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006289.3 -1 reviewed p.F2160V 1.000 29 0% 23 43.5% 180 33.3% benign(0.346) tolerated(0.18) neutral(0.166) NULL RGP1 9827 genome.wustl.edu 37 9 35751404 35751404 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080496.1 +1 provisional p.S250N 1.000 89 0% 131 36.6% 8 25% benign(0) tolerated(0.38) neutral(0.018) HMMPfam_Rgp1 SPAG8 26206 genome.wustl.edu 37 9 35810551 35810551 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172312.1 -1 reviewed e5-1 0.989 160 0% 206 29.1% 1 0% - - - - CCIN 881 genome.wustl.edu 37 9 36169538 36169538 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005893.2 +1 reviewed p.F13 0.910 75 0% 115 29.6% 0 - - - - superfamily_POZ domain CCIN 881 genome.wustl.edu 37 9 36171159 36171159 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005893.2 +1 reviewed p.D554Y 1.000 32 0% 40 20% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain RNF38 152006 genome.wustl.edu 37 9 36351148 36351148 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022781.4 -1 reviewed p.E409D 1.000 124 0% 88 22.7% 14 28.5% benign(0.006) tolerated(0.67) neutral(0.003) NULL RNF38 152006 genome.wustl.edu 37 9 36353177 36353177 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022781.4 -1 reviewed p.S354F 1.000 149 0% 65 38.5% 16 56.2% possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) NULL PAX5 5079 genome.wustl.edu 37 9 37020790 37020790 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016734.1 -1 reviewed p.G19R 1.000 82 0% 90 38.9% 1 0% probably_damaging(0.984) tolerated(0.21) deleterious(0.474) HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like ZBTB5 9925 genome.wustl.edu 37 9 37441319 37441319 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014872.2 -1 validated p.S410 0.885 75 0% 63 30.2% 13 46.1% - - - NULL LOC647013 647013 genome.wustl.edu 37 9 37477442 37477442 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001726034.2 +1 model p.Y99* 0.993 76 0% 89 24.7% 0 - - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain LOC647013 647013 genome.wustl.edu 37 9 37477851 37477851 + Nonsense_Mutation SNP C C T rs78618032 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001726034.2 +1 model p.R236* 0.998 71 0% 55 32.7% 0 - - - - NULL POLR1E 64425 genome.wustl.edu 37 9 37487880 37487880 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022490.1 +1 provisional p.L67 1.000 178 0% 261 30.3% 21 33.3% - - - HMMPfam_RNA_pol_I_A49 FBXO10 26267 genome.wustl.edu 37 9 37512665 37512665 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012166.2 -1 validated p.S917Y 0.994 49 0% 38 28.9% 5 20% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL FRMPD1 22844 genome.wustl.edu 37 9 37735588 37735588 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014907.2 +1 validated p.A420T 1.000 97 0% 80 12.5% 1 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL FRMPD1 22844 genome.wustl.edu 37 9 37740516 37740516 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014907.2 +1 validated p.R664I 0.370 27 0% 32 37.5% 1 0% benign(0) tolerated(0.24) neutral(0.037) NULL FRMPD1 22844 genome.wustl.edu 37 9 37744838 37744838 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014907.2 +1 validated p.R937* 0.362 51 0% 86 32.6% 0 - - - - NULL FRMPD1 22844 genome.wustl.edu 37 9 37745905 37745905 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014907.2 +1 validated p.E1292D 0.030 109 0% 177 39.5% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL RG9MTD3 158234 genome.wustl.edu 37 9 37761989 37761989 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144964.2 +1 validated p.E21* 0.603 50 0% 49 10.2% 6 0% - - - NULL RG9MTD3 158234 genome.wustl.edu 37 9 37762614 37762614 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144964.2 +1 validated p.V76A 0.999 103 0% 120 26.7% 2 50% possibly_damaging(0.775) tolerated(0.07) deleterious(0.607) NULL DCAF10 79269 genome.wustl.edu 37 9 37860137 37860137 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024345.3 +1 validated p.P420T 1.000 55 0% 43 39.5% 28 39.2% probably_damaging(0.978) deleterious(0) deleterious(0.865) superfamily_WD40 repeat-like DCAF10 79269 genome.wustl.edu 37 9 37861311 37861311 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024345.3 +1 validated p.R496C 1.000 152 0% 55 32.7% 23 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like ANKRD18A 253650 genome.wustl.edu 37 9 38572020 38572020 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000357072 -1 known p.S137Y 0.011 87 0% 29 37.9% 0 - possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL ANKRD18A 253650 genome.wustl.edu 37 9 38575659 38575659 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000399703 -1 known p.L926 0.003 160 0% 86 31.4% 0 - - - - NULL CNTNAP3 79937 genome.wustl.edu 37 9 39088554 39088554 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033655.3 -1 reviewed p.S1029Y 0.754 157 0% 121 14% 2 0% possibly_damaging(0.87) tolerated(0.06) deleterious(0.661) superfamily_Concanavalin A-like lectins/glucanases CNTNAP3 79937 genome.wustl.edu 37 9 39171462 39171462 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033655.3 -1 reviewed p.R413* 0.000 38 0% 24 25% 8 25% - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CNTNAP3 79937 genome.wustl.edu 37 9 39178253 39178253 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033655.3 -1 reviewed p.M215V 0.546 130 0% 49 32.7% 1 0% benign(0) tolerated(0.55) neutral(0.007) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 FAM74A3 728495 genome.wustl.edu 37 9 40716164 40716164 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026801.1 +1 predicted NULL 0.024 382 0% 242 31.4% 0 - - - - - ZNF658 26149 genome.wustl.edu 37 9 40774106 40774106 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033160.5 -1 validated p.R390I 0.009 330 0% 145 29.7% 2 100% benign(0.278) deleterious(0.01) neutral(0.435) superfamily_C2H2 and C2HC zinc fingers LOC389722 389722 genome.wustl.edu 37 9 43818146 43818146 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342910.1 +1 model p.E345K 1.000 160 0% 62 19.4% 4 50% benign(0.005) deleterious(0.04) neutral(0.349) NULL FAM122A 116224 genome.wustl.edu 37 9 71395691 71395691 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138333.3 +1 validated p.R204K 1.000 111 0% 182 41.8% 20 35% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL PIP5K1B 8395 genome.wustl.edu 37 9 71549846 71549846 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003558.2 +1 validated p.I414 0.140 77 0% 28 21.4% 13 53.8% - - - NULL APBA1 320 genome.wustl.edu 37 9 72131027 72131027 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001163.3 -1 reviewed p.S367L 1.000 32 0% 72 38.9% 1 0% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL MAMDC2 256691 genome.wustl.edu 37 9 72741211 72741211 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153267.4 +1 validated p.V260 0.995 52 0% 21 23.8% 0 - - - - HMMPfam_MAM,HMMSmart_SM00137 TRPM3 80036 genome.wustl.edu 37 9 73151867 73151867 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007471.2 -1 reviewed p.E1376* 1.000 103 0% 109 36.7% 0 - - - - NULL TRPM3 80036 genome.wustl.edu 37 9 73296482 73296482 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007471.2 -1 reviewed p.R429W 1.000 177 0% 130 30.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL TRPM3 80036 genome.wustl.edu 37 9 73399135 73399135 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007471.2 -1 reviewed p.S345L 0.998 91 0% 54 44.4% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL C9orf57 138240 genome.wustl.edu 37 9 74667276 74667276 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128618.1 -1 validated p.R141I 0.018 202 0% 84 29.8% 0 - possibly_damaging(0.681) - - NULL ZFAND5 7763 genome.wustl.edu 37 9 74974438 74974438 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102420.1 -1 validated e3-1 1.000 164 0% 197 32.5% 1 100% - - - - TMC1 117531 genome.wustl.edu 37 9 75403378 75403378 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138691.2 +1 reviewed p.N336K 0.822 82 0% 35 40% 1 100% benign(0.104) deleterious(0.02) neutral(0.391) NULL ALDH1A1 216 genome.wustl.edu 37 9 75555069 75555069 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000689.3 -1 reviewed p.D56N 1.000 163 0% 82 26.8% 223 15.2% possibly_damaging(0.914) tolerated(0.05) deleterious(0.712) HMMPfam_Aldedh,superfamily_ALDH-like RORB 6096 genome.wustl.edu 37 9 77282783 77282783 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006914.3 +1 reviewed p.I359 1.000 247 0% 154 34.4% 0 - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain TRPM6 140803 genome.wustl.edu 37 9 77353422 77353422 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017662.4 -1 reviewed p.E1893* 1.000 151 0% 86 25.6% 0 - - - - HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like) TRPM6 140803 genome.wustl.edu 37 9 77367279 77367279 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017662.4 -1 reviewed p.E1638* 0.999 224 0% 75 34.7% 0 - - - - NULL TRPM6 140803 genome.wustl.edu 37 9 77473649 77473649 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017662.4 -1 reviewed p.I17V 1.000 205 0% 236 28.8% 0 - unknown(0) tolerated(0.06) - NULL PCSK5 5125 genome.wustl.edu 37 9 78789990 78789990 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006200.3 +1 reviewed p.F615 0.880 103 0% 49 34.7% 0 - - - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79259806 79259806 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015225.2 -1 validated p.D2859E 0.992 187 0% 60 35% 3 33.3% benign(0.005) tolerated(0.58) neutral(0.005) NULL PRUNE2 158471 genome.wustl.edu 37 9 79267503 79267503 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015225.2 -1 validated p.S2818Y 0.991 182 0% 86 25.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL PRUNE2 158471 genome.wustl.edu 37 9 79318925 79318925 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015225.2 -1 validated p.R2535I 0.000 155 0% 76 26.3% 1 100% benign(0.005) deleterious(0) neutral(0.445) NULL PRUNE2 158471 genome.wustl.edu 37 9 79319792 79319792 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000426088 -1 known p.R1788S 0.000 100 0% 50 26% 0 - - - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79320453 79320453 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015225.2 -1 validated p.G2246D 0.000 75 0% 29 48.3% 0 - benign(0.001) tolerated(0.05) neutral(0.345) NULL PRUNE2 158471 genome.wustl.edu 37 9 79325546 79325546 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015225.2 -1 validated p.N548K 0.991 84 0% 34 20.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL VPS13A 23230 genome.wustl.edu 37 9 79827886 79827886 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033305.2 +1 reviewed p.T186I 1.000 406 0% 224 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS13A 23230 genome.wustl.edu 37 9 79891017 79891017 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033305.2 +1 reviewed p.E902* 1.000 226 0% 118 31.4% 2 50% - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79968330 79968330 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033305.2 +1 reviewed p.M2475I 1.000 82 0% 70 34.3% 3 33.3% benign(0.111) tolerated(0.25) neutral(0.045) NULL VPS13A 23230 genome.wustl.edu 37 9 79975495 79975495 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033305.2 +1 reviewed p.L2717I 1.000 157 0% 66 28.8% 4 25% probably_damaging(0.999) tolerated(0.39) deleterious(0.506) NULL PSAT1 29968 genome.wustl.edu 37 9 80916919 80916919 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058179.2 +1 reviewed p.E57D 0.998 308 0% 358 32.1% 68 39.7% benign(0.14) deleterious(0) neutral(0.457) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases FAM75D1 389763 genome.wustl.edu 37 9 84608282 84608282 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001670.2 +1 validated p.R966Q 0.000 93 0% 48 37.5% 0 - unknown(0) tolerated(0.32) - NULL FRMD3 257019 genome.wustl.edu 37 9 85924481 85924481 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174938.4 -1 validated p.K299T 1.000 74 0% 115 24.3% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_FERM_C,superfamily_PH domain-like UBQLN1 29979 genome.wustl.edu 37 9 86278894 86278894 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013438.4 -1 reviewed p.A505T 0.062 193 0% 73 26% 127 43.3% benign(0) tolerated(0.82) neutral(0.001) NULL GKAP1 80318 genome.wustl.edu 37 9 86383794 86383794 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025211.3 -1 reviewed p.R226Q 1.000 373 0% 204 28.9% 2 50% probably_damaging(1) tolerated(0.22) deleterious(0.542) NULL C9orf64 84267 genome.wustl.edu 37 9 86570410 86570410 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032307.3 -1 validated p.E161D 1.000 85 0% 142 33.8% 18 55.5% probably_damaging(0.991) tolerated(0.34) neutral(0.467) HMMPfam_DUF2419 NTRK2 4915 genome.wustl.edu 37 9 87317089 87317089 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006180.3 +1 reviewed p.Q76H 1.000 124 0% 82 12.2% 0 - probably_damaging(0.97) deleterious(0.02) deleterious(0.795) superfamily_SSF52058 NTRK2 4915 genome.wustl.edu 37 9 87342828 87342828 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006180.3 +1 reviewed p.E371D 0.818 132 0% 102 33.3% 0 - possibly_damaging(0.758) tolerated(0.36) neutral(0.301) superfamily_SSF48726 AGTPBP1 23287 genome.wustl.edu 37 9 88207502 88207502 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015239.2 -1 validated p.H807Q 0.994 119 0% 83 20.5% 6 33.3% probably_damaging(0.991) tolerated(0.16) deleterious(0.504) superfamily_SSF53187 AGTPBP1 23287 genome.wustl.edu 37 9 88248039 88248039 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015239.2 -1 validated p.R478I 0.037 155 0% 86 30.2% 3 66.6% benign(0.117) deleterious(0.01) neutral(0.415) NULL C9orf153 389766 genome.wustl.edu 37 9 88842858 88842858 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010907.1 -1 predicted p.E52* 0.865 172 0% 79 36.7% 0 - - - - NULL ZCCHC6 79670 genome.wustl.edu 37 9 88967750 88967750 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024617.3 -1 validated p.I122S 1.000 356 0% 491 12.6% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DAPK1 1612 genome.wustl.edu 37 9 90254710 90254710 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000489291 +1 known p.S187L 0.983 423 0.2% 296 29.4% 1 0% unknown(0) - - HMMSmart_SM00220 CTSL1 1514 genome.wustl.edu 37 9 90342977 90342977 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001912.4 +1 reviewed p.K54N 1.000 278 0% 442 26.9% 227 9.2% benign(0.039) tolerated(0.21) neutral(0.046) HMMPfam_Inhibitor_I29,superfamily_SSF54001 C9orf79 286234 genome.wustl.edu 37 9 90498026 90498026 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178828.4 +1 validated p.C74R 0.017 53 0% 100 15% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL FAM75C1 441452 genome.wustl.edu 37 9 90535223 90535223 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145124.1 +1 validated p.P134L 0.000 233 0% 221 28.5% 0 - - - - NULL FAM75C1 441452 genome.wustl.edu 37 9 90536003 90536003 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145124.1 +1 validated p.A394V 0.007 120 0% 138 32.6% 0 - - - - NULL FAM75C1 441452 genome.wustl.edu 37 9 90536422 90536422 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145124.1 +1 validated p.L534I 0.010 68 0% 86 34.9% 0 - - - - NULL LOC286238 286238 genome.wustl.edu 37 9 91262450 91262450 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100111.1 -1 validated p.H65N 0.006 159 0% 119 26.9% 0 - - - - NULL SYK 6850 genome.wustl.edu 37 9 93624611 93624611 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003177.5 +1 reviewed p.F234 0.999 50 0% 38 34.2% 40 25% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain NFIL3 4783 genome.wustl.edu 37 9 94171921 94171921 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005384.2 -1 validated p.E366K 0.989 103 0% 132 37.9% 25 52% benign(0.4) deleterious(0.02) deleterious(0.512) HMMPfam_Vert_IL3-reg_TF NFIL3 4783 genome.wustl.edu 37 9 94172928 94172928 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005384.2 -1 validated p.S30Y 0.061 58 1.7% 87 17.2% 15 26.6% possibly_damaging(0.808) deleterious(0) deleterious(0.748) NULL ROR2 4920 genome.wustl.edu 37 9 94487377 94487377 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004560.2 -1 reviewed p.E467K 1.000 80 0% 94 25.5% 3 66.6% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) superfamily_Kinase_like SPTLC1 10558 genome.wustl.edu 37 9 94794708 94794708 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000415466 -1 known p.A477T 0.000 55 1.8% 49 38.8% 88 47.7% - - - NULL NOL8 55035 genome.wustl.edu 37 9 95077675 95077675 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017948.5 -1 validated p.S411Y 0.481 111 0% 84 36.9% 6 50% benign(0.354) tolerated(0.1) neutral(0.398) NULL ASPN 54829 genome.wustl.edu 37 9 95222803 95222803 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017680.3 -1 validated p.I253M 0.986 283 0% 135 34.8% 0 - benign(0.056) deleterious(0.02) neutral(0.387) superfamily_SSF52058 ECM2 1842 genome.wustl.edu 37 9 95280056 95280056 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001393.2 -1 reviewed p.L132I 0.990 128 0% 69 15.9% 1 0% possibly_damaging(0.753) tolerated(0.3) neutral(0.305) HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1 ENSG00000218940 0 genome.wustl.edu 37 9 95576199 95576199 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000375504 +1 known p.E122G 0.780 111 0% 202 28.2% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ZNF484 83744 genome.wustl.edu 37 9 95609270 95609270 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031486.1 -1 provisional p.R600I 1.000 154 0% 114 32.5% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF484 83744 genome.wustl.edu 37 9 95610607 95610607 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031486.1 -1 provisional p.E154D 0.001 272 0.4% 258 32.6% 5 40% benign(0) tolerated(0.14) neutral(0.249) NULL ZNF484 83744 genome.wustl.edu 37 9 95618570 95618570 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031486.1 -1 provisional p.D16Y 0.832 168 0% 101 27.7% 6 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box FGD3 89846 genome.wustl.edu 37 9 95776151 95776151 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083536.1 +1 validated p.L351 0.770 67 0% 77 32.5% 7 28.5% - - - superfamily_DBL homology domain (DH-domain),superfamily_PH domain-like FGD3 89846 genome.wustl.edu 37 9 95782125 95782125 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083536.1 +1 validated p.E456D 1.000 239 0% 342 27.2% 6 0% probably_damaging(0.999) tolerated(0.28) deleterious(0.522) HMMPfam_PH,HMMSmart_SM00233,superfamily_FYVE/PHD zinc finger,superfamily_PH domain-like PHF2 5253 genome.wustl.edu 37 9 96415497 96415497 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005392.3 +1 reviewed p.K213N 1.000 73 0% 115 33% 22 45.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_JmjC,superfamily_SSF51197 PTPDC1 138639 genome.wustl.edu 37 9 96857615 96857615 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152422.3 +1 reviewed p.F209 0.793 173 0% 262 35.5% 1 0% - - - superfamily_SSF52799 FAM22F 54754 genome.wustl.edu 37 9 97080927 97080927 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000434357 -1 known p.E597* 0.036 150 0% 182 25.3% 0 - probably_damaging(0.998) tolerated(0.28) deleterious(0.506) NULL PTCH1 5727 genome.wustl.edu 37 9 98240408 98240408 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000264.3 -1 reviewed p.T426A 0.996 145 0% 144 35.4% 6 50% possibly_damaging(0.67) tolerated(0.36) neutral(0.258) HMMPfam_Patched,superfamily_SSF82866 PTCH1 5727 genome.wustl.edu 37 9 98244448 98244448 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000264.3 -1 reviewed p.E208* 1.000 157 0% 146 30.8% 1 100% - - - NULL C9orf102 375748 genome.wustl.edu 37 9 98683470 98683470 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010895.2 +1 validated p.S402Y 1.000 142 0% 65 32.3% 6 66.6% benign(0.378) tolerated(0.07) neutral(0.440) HMMPfam_SNF2_N C9orf102 375748 genome.wustl.edu 37 9 98728850 98728850 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010895.2 +1 validated p.H663N 1.000 205 0% 54 33.3% 6 50% benign(0.124) deleterious(0.03) neutral(0.374) superfamily_P-loop containing nucleoside triphosphate hydrolases CDC14B 8555 genome.wustl.edu 37 9 99285664 99285664 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033331.2 -1 reviewed p.R375H 0.961 233 0% 164 20.7% 11 45.4% possibly_damaging(0.477) tolerated(0.06) deleterious(0.480) superfamily_(Phosphotyrosine protein) phosphatases II ZNF782 158431 genome.wustl.edu 37 9 99580896 99580896 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001662.1 -1 provisional p.R470I 1.000 199 0% 107 33.6% 3 33.3% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF782 158431 genome.wustl.edu 37 9 99581064 99581064 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001662.1 -1 provisional p.R414I 0.999 271 0% 139 30.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF782 158431 genome.wustl.edu 37 9 99589390 99589390 + Nonsense_Mutation SNP C C A rs34630409 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000289032 -1 known p.E61* 0.000 138 0% 77 37.7% 1 100% possibly_damaging(0.945) deleterious(0.02) deleterious(0.772) NULL C9orf174 100499483 genome.wustl.edu 37 9 100086125 100086125 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020893.1 +1 predicted p.F620L 0.957 104 0% 66 25.8% 1 0% unknown(0) tolerated(0.67) - NULL C9orf174 100499483 genome.wustl.edu 37 9 100092629 100092629 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020893.1 +1 predicted p.K801N 0.001 142 0% 87 10.3% 1 0% unknown(0) deleterious(0.04) - NULL C9orf174 100499483 genome.wustl.edu 37 9 100105708 100105708 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020893.1 +1 predicted p.V970 0.992 81 0% 89 29.2% 1 0% - - - NULL C9orf174 100499483 genome.wustl.edu 37 9 100137804 100137804 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020893.1 +1 predicted p.S1581L 0.001 88 0% 109 22.9% 9 55.5% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL TDRD7 23424 genome.wustl.edu 37 9 100234629 100234629 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014290.2 +1 validated p.T599N 0.912 111 0% 47 38.3% 12 41.6% possibly_damaging(0.846) tolerated(0.05) deleterious(0.670) NULL NCBP1 4686 genome.wustl.edu 37 9 100405549 100405549 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002486.4 +1 reviewed p.R96 0.996 184 0% 170 31.2% 7 42.8% - - - HMMPfam_MIF4G,HMMSmart_MIF4G,superfamily_ARM-type_fold HEMGN 55363 genome.wustl.edu 37 9 100689687 100689687 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018437.3 -1 validated p.V478 0.002 318 0% 420 27.1% 0 - - - - NULL HEMGN 55363 genome.wustl.edu 37 9 100693497 100693497 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018437.3 -1 validated p.Q60H 1.000 229 0.4% 200 26% 0 - possibly_damaging(0.855) deleterious(0.02) deleterious(0.713) NULL GABBR2 9568 genome.wustl.edu 37 9 101056070 101056070 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005458.7 -1 reviewed p.E886A 1.000 329 0% 276 35.9% 1 0% possibly_damaging(0.891) deleterious(0.02) deleterious(0.734) NULL GABBR2 9568 genome.wustl.edu 37 9 101243257 101243257 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005458.7 -1 reviewed p.L252R 1.000 90 0% 81 23.5% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_ANF_receptor,superfamily_SSF53822 ANKS6 203286 genome.wustl.edu 37 9 101536358 101536358 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173551.3 -1 provisional p.R541Q 0.996 41 0% 42 33.3% 13 69.2% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL COL15A1 1306 genome.wustl.edu 37 9 101777744 101777744 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001855.3 +1 reviewed p.E467K 0.001 57 0% 47 40.4% 12 0% benign(0.004) tolerated(0.61) neutral(0.004) NULL STX17 55014 genome.wustl.edu 37 9 102713391 102713391 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017919.2 +1 validated p.R80Q 0.040 94 0% 49 34.7% 8 37.5% benign(0.01) tolerated(0.3) neutral(0.029) superfamily_t-snare ERP44 23071 genome.wustl.edu 37 9 102768915 102768915 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015051.1 -1 validated p.L297V 1.000 138 0% 102 18.6% 99 18.1% benign(0.308) deleterious(0) deleterious(0.540) NULL INVS 27130 genome.wustl.edu 37 9 103002492 103002492 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014425.2 +1 reviewed p.R256* 1.000 80 0% 38 34.2% 5 0% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat TEX10 54881 genome.wustl.edu 37 9 103082673 103082673 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017746.3 -1 validated p.S692 0.933 54 0% 35 28.6% 26 34.6% - - - NULL LPPR1 54886 genome.wustl.edu 37 9 104048497 104048497 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017753.2 +1 reviewed p.R122* 1.000 98 0% 71 31% 0 - - - - superfamily_AcPase_VanPerase ZNF189 7743 genome.wustl.edu 37 9 104170739 104170739 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003452.2 +1 validated p.R230I 1.000 98 0% 48 33.3% 5 40% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_C2H2 and C2HC zinc fingers RNF20 56254 genome.wustl.edu 37 9 104302516 104302516 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019592.5 +1 reviewed p.K54T 0.999 68 0% 59 44.1% 16 37.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PPP3R2 5535 genome.wustl.edu 37 9 104356985 104356985 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_147180.2 -1 provisional p.K76N 0.477 79 0% 90 37.8% 0 - possibly_damaging(0.467) tolerated(0.17) neutral(0.212) HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 GRIN3A 116443 genome.wustl.edu 37 9 104432555 104432555 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133445.2 -1 reviewed p.V713 1.000 88 0% 31 25.8% 0 - - - - HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 GRIN3A 116443 genome.wustl.edu 37 9 104449448 104449448 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133445.2 -1 reviewed p.S245* 1.000 74 0% 43 34.9% 0 - - - - superfamily_SSF53822 GRIN3A 116443 genome.wustl.edu 37 9 104499750 104499750 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133445.2 -1 reviewed p.S171L 0.993 72 0% 141 36.9% 0 - benign(0.139) deleterious(0.02) neutral(0.395) superfamily_SSF53822 SMC2 10592 genome.wustl.edu 37 9 106901422 106901422 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042550.1 +1 validated p.F1140L 1.000 110 0% 40 30% 100 58% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases OR13F1 138805 genome.wustl.edu 37 9 107267361 107267361 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004485.1 +1 provisional p.F273C 0.987 95 0% 61 29.5% 0 - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 OR13C4 138804 genome.wustl.edu 37 9 107288862 107288862 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001919.1 -1 provisional p.P210H 0.216 112 0.9% 82 36.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR13C4 138804 genome.wustl.edu 37 9 107288890 107288890 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001919.1 -1 provisional p.V201M 0.001 112 0% 76 34.2% 0 - possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) HMMPfam_7tm_1,superfamily_SSF81321 ABCA1 19 genome.wustl.edu 37 9 107550828 107550828 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005502.2 -1 reviewed p.E1983A 1.000 91 0% 58 22.4% 15 46.6% benign(0.039) tolerated(0.52) neutral(0.011) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA1 19 genome.wustl.edu 37 9 107593915 107593915 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005502.2 -1 reviewed p.K568T 1.000 250 0% 158 39.2% 8 37.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ABCA1 19 genome.wustl.edu 37 9 107651416 107651416 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005502.2 -1 reviewed p.R43W 0.998 63 0% 47 21.3% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF462 58499 genome.wustl.edu 37 9 109689356 109689356 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021224.4 +1 validated p.E1055K 1.000 169 0% 243 28.8% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109690322 109690322 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021224.4 +1 validated p.E1377K 1.000 40 0% 54 29.6% 3 0% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMSmart_SM00355,superfamily_beta-sandwich domain of Sec23/24 RAD23B 5887 genome.wustl.edu 37 9 110091866 110091866 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002874.3 +1 reviewed p.Y387H 1.000 126 0% 82 31.7% 160 51.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UBA,superfamily_UBA-like,HMMSmart_SM00165 CTNNAL1 8727 genome.wustl.edu 37 9 111732758 111732758 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003798.2 -1 provisional p.R455Q 0.998 114 0% 62 35.5% 29 82.7% probably_damaging(0.995) tolerated(0.43) deleterious(0.471) superfamily_alpha-catenin/vinculin CTNNAL1 8727 genome.wustl.edu 37 9 111739244 111739244 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003798.2 -1 provisional p.E396* 1.000 291 0% 122 24.6% 23 4.3% - - - superfamily_alpha-catenin/vinculin FRRS1L 23732 genome.wustl.edu 37 9 111909349 111909349 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014334.2 -1 validated p.F199L 1.000 217 0% 175 34.3% 10 60% probably_damaging(0.999) tolerated(0.28) deleterious(0.522) HMMSmart_DoH,HMMPfam_DOMON PTPN3 5774 genome.wustl.edu 37 9 112225638 112225638 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002829.3 -1 reviewed p.R26Q 0.993 165 0% 116 31% 3 66.6% probably_damaging(0.996) tolerated(0.68) neutral(0.464) HMMSmart_B41,superfamily_SSF54236 PALM2-AKAP2 445815 genome.wustl.edu 37 9 112778280 112778280 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007203.4 +1 validated p.S181 0.000 128 0.8% 74 33.8% 3 0% - - - NULL TXNDC8 255220 genome.wustl.edu 37 9 113096601 113096601 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001003936.2 -1 validated e2-1 0.998 65 0% 25 32% 0 - - - - - SVEP1 79987 genome.wustl.edu 37 9 113166751 113166751 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153366.3 -1 validated p.I3174 0.994 152 0% 73 34.2% 13 7.6% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113168845 113168845 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153366.3 -1 validated p.I3012S 0.998 47 0% 24 33.3% 4 0% possibly_damaging(0.814) tolerated(0.34) neutral(0.331) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113169271 113169271 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153366.3 -1 validated p.S2870I 0.358 32 0% 37 32.4% 6 0% probably_damaging(0.959) tolerated(0.16) neutral(0.462) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113213626 113213626 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153366.3 -1 validated p.G1282* 0.990 202 0% 233 31.8% 1 0% - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin SVEP1 79987 genome.wustl.edu 37 9 113228183 113228183 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153366.3 -1 validated p.T1095I 1.000 139 0% 104 33.7% 1 0% possibly_damaging(0.901) tolerated(0.21) neutral(0.401) superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3 SVEP1 79987 genome.wustl.edu 37 9 113238569 113238569 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153366.3 -1 validated p.E838D 1.000 179 0% 89 32.6% 2 0% benign(0) tolerated(0.53) neutral(0.007) NULL MUSK 4593 genome.wustl.edu 37 9 113530085 113530085 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000189978 +1 known p.F308 0.827 45 0% 45 24.4% 0 - - - - NULL MUSK 4593 genome.wustl.edu 37 9 113547226 113547226 + Missense_Mutation SNP A A C rs191581729 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005592.3 +1 reviewed p.I506L 0.000 221 0% 314 29.6% 0 - benign(0) tolerated(0.49) neutral(0.011) NULL OR2K2 26248 genome.wustl.edu 37 9 114090717 114090717 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000374428 -1 known p.K28N 0.001 43 0% 13 30.8% 0 - possibly_damaging(0.605) tolerated(0.12) deleterious(0.470) superfamily_SSF81321 KIAA0368 23392 genome.wustl.edu 37 9 114148706 114148706 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080398.1 -1 provisional p.D1338N 1.000 77 0% 67 31.3% 29 27.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat ZNF483 158399 genome.wustl.edu 37 9 114304768 114304768 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133464.2 +1 validated p.T518I 1.000 63 0% 38 28.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 C9orf84 158401 genome.wustl.edu 37 9 114490010 114490010 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173521.3 -1 validated p.E515D 0.036 173 0% 91 26.4% 0 - possibly_damaging(0.459) tolerated(0.47) neutral(0.162) NULL KIAA1958 158405 genome.wustl.edu 37 9 115336975 115336975 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133465.2 +1 predicted p.Q205H 0.997 93 0% 49 28.6% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA1958 158405 genome.wustl.edu 37 9 115421604 115421604 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133465.2 +1 predicted p.D469G 1.000 20 0% 28 25% 6 66.6% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ZFP37 7539 genome.wustl.edu 37 9 115805505 115805505 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003408.1 -1 provisional p.E465* 0.855 162 0% 59 27.1% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 POLE3 54107 genome.wustl.edu 37 9 116171017 116171017 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_027261.1 -1 validated NULL 0.000 214 0% 315 35.2% 66 46.9% - - - - RGS3 5998 genome.wustl.edu 37 9 116291526 116291526 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000496113 +1 known p.R87C 0.852 174 0% 126 34.1% 12 50% - - - NULL COL27A1 85301 genome.wustl.edu 37 9 116958293 116958293 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032888.2 +1 validated e7+1 1.000 116 0% 99 26.3% 0 - - - - - C9orf91 203197 genome.wustl.edu 37 9 117399288 117399288 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153045.3 +1 validated p.D202N 0.995 194 0% 152 28.9% 10 40% benign(0.019) tolerated(0.05) neutral(0.346) NULL TNC 3371 genome.wustl.edu 37 9 117838850 117838850 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002160.2 -1 validated p.L893 1.000 141 0.7% 94 34% 86 32.5% - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PAPPA 5069 genome.wustl.edu 37 9 118982246 118982246 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002581.3 +1 reviewed p.N650T 1.000 90 0% 33 27.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Peptidase_M43,superfamily_SSF55486 ASTN2 23245 genome.wustl.edu 37 9 119202920 119202920 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000417725 -1 known p.S32L 0.996 131 0% 85 24.7% 2 50% - - - NULL ASTN2 23245 genome.wustl.edu 37 9 119625984 119625984 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198187.3 -1 reviewed p.E640* 1.000 119 0% 68 33.8% 3 0% - - - NULL TLR4 7099 genome.wustl.edu 37 9 120475412 120475412 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138554.3 +1 reviewed p.E336* 0.001 69 0% 27 18.5% 3 33.3% - - - superfamily_L domain-like PHF19 26147 genome.wustl.edu 37 9 123625009 123625009 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015651.1 -1 validated p.E329D 1.000 123 0% 139 31.7% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C5 727 genome.wustl.edu 37 9 123744973 123744973 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001735.2 -1 reviewed p.S1117Y 1.000 140 0% 101 35.6% 1 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_Terp_cyc_toroid,HMMPfam_A2M_comp C5 727 genome.wustl.edu 37 9 123789501 123789501 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001735.2 -1 reviewed p.G270 1.000 302 0% 471 31.4% 0 - - - - NULL C5 727 genome.wustl.edu 37 9 123805327 123805327 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001735.2 -1 reviewed p.L126I 1.000 182 0% 86 32.6% 0 - possibly_damaging(0.595) tolerated(0.19) neutral(0.256) HMMPfam_A2M_N STOM 2040 genome.wustl.edu 37 9 124111437 124111437 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004099.4 -1 validated p.Q162H 1.000 169 0% 54 35.2% 38 13.1% possibly_damaging(0.807) deleterious(0.01) deleterious(0.710) HMMPfam_Band_7,HMMSmart_PHB PTGS1 5742 genome.wustl.edu 37 9 125133402 125133402 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000373698 +1 known p.I13M 0.000 69 0% 122 26.2% 0 - - - - NULL OR1J2 26740 genome.wustl.edu 37 9 125273307 125273307 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_054107.1 +1 provisional p.V76A 0.017 262 0% 231 35.5% 0 - probably_damaging(0.973) tolerated(0.22) neutral(0.457) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L1 26737 genome.wustl.edu 37 9 125423938 125423938 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005236.3 +1 validated p.S32A 0.000 88 0% 63 25.4% 0 - benign(0) - - NULL OR1L3 26735 genome.wustl.edu 37 9 125437699 125437699 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005234.1 +1 provisional p.C97W 0.089 192 0% 83 33.7% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L6 392390 genome.wustl.edu 37 9 125513035 125513035 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004453.2 +1 validated p.K339N 0.635 126 0% 90 31.1% 0 - benign(0.032) tolerated(0.23) neutral(0.043) superfamily_SSF81321 ZBTB26 57684 genome.wustl.edu 37 9 125682122 125682122 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020924.2 -1 provisional p.K31T 1.000 59 0% 66 22.7% 0 - possibly_damaging(0.832) tolerated(0.13) deleterious(0.570) superfamily_BTB/POZ_fold,HMMPfam_BTB RABGAP1 23637 genome.wustl.edu 37 9 125852122 125852122 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012197.3 +1 validated p.R837Q 1.000 116 0% 66 36.4% 41 53.6% benign(0.258) tolerated(0.15) neutral(0.268) NULL DENND1A 57706 genome.wustl.edu 37 9 126345511 126345511 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020946.1 -1 validated p.L268 1.000 122 0% 66 27.3% 11 0% - - - HMMPfam_DENN,HMMSmart_SM00799 DENND1A 57706 genome.wustl.edu 37 9 126429350 126429350 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020946.1 -1 validated p.Y154* 1.000 106 0% 42 21.4% 12 58.3% - - - HMMPfam_DENN,HMMSmart_SM00799 NR5A1 2516 genome.wustl.edu 37 9 127262899 127262899 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004959.4 -1 reviewed p.R114W 1.000 50 0% 51 29.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nuclear receptor ligand-binding domain NR6A1 2649 genome.wustl.edu 37 9 127302449 127302449 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033334.2 -1 reviewed p.I153 0.699 166 0% 84 32.1% 2 0% - - - superfamily_Nuclear receptor ligand-binding domain OLFML2A 169611 genome.wustl.edu 37 9 127572090 127572090 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182487.2 +1 validated p.R453H 1.000 40 0% 93 33.3% 4 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_OLF,HMMSmart_SM00284 SCAI 286205 genome.wustl.edu 37 9 127818204 127818204 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173690.4 -1 reviewed p.D84Y 1.000 170 0% 130 10.8% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PPP6C 5537 genome.wustl.edu 37 9 127912146 127912146 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001123355.1 -1 reviewed p.E279K 0.998 174 0% 197 24.9% 95 32.6% possibly_damaging(0.69) deleterious(0) deleterious(0.692) HMMSmart_PP2Ac,superfamily_SSF56300 GAPVD1 26130 genome.wustl.edu 37 9 128064548 128064548 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015635.2 +1 validated p.E158* 1.000 154 0% 81 30.9% 9 11.1% - - - HMMPfam_RasGAP,superfamily_Rho_GAP RALGPS1 9649 genome.wustl.edu 37 9 129831562 129831562 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014636.1 +1 provisional p.S179 0.069 158 0% 73 32.9% 3 33.3% - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF RALGPS1 9649 genome.wustl.edu 37 9 129931011 129931011 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014636.1 +1 provisional p.I268L 1.000 138 0% 83 9.6% 9 0% possibly_damaging(0.554) tolerated(0.08) deleterious(0.489) HMMSmart_SM00147,superfamily_Ras GEF SLC2A8 29988 genome.wustl.edu 37 9 130162257 130162257 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000419132 +1 known p.S76L 0.823 179 0.6% 330 31.8% 65 40% - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter LRSAM1 90678 genome.wustl.edu 37 9 130258313 130258313 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005373.1 +1 validated p.F590S 0.987 37 0% 90 13.3% 30 3.3% possibly_damaging(0.777) deleterious(0.01) deleterious(0.696) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 STXBP1 6812 genome.wustl.edu 37 9 130439014 130439014 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003165.3 +1 reviewed p.G447 0.061 38 0% 35 42.9% 33 45.4% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins SH2D3C 10044 genome.wustl.edu 37 9 130513555 130513555 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000440630 -1 known p.W30* 1.000 71 0% 117 35% 3 0% possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) NULL ENG 2022 genome.wustl.edu 37 9 130587208 130587208 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114753.1 -1 reviewed p.R288C 0.000 70 0% 160 29.4% 62 19.3% benign(0.02) tolerated(0.09) neutral(0.297) NULL ENG 2022 genome.wustl.edu 37 9 130588869 130588869 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114753.1 -1 reviewed p.E148G 0.055 95 0% 154 38.3% 37 13.5% benign(0.001) tolerated(0.12) neutral(0.261) NULL DPM2 8818 genome.wustl.edu 37 9 130699718 130699718 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003863.3 -1 reviewed p.L30I 0.995 66 0% 125 23.2% 152 42.7% benign(0.046) tolerated(0.77) neutral(0.004) HMMPfam_DPM2 CERCAM 51148 genome.wustl.edu 37 9 131196801 131196801 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016174.4 +1 validated p.A482T 0.938 28 0% 48 29.2% 52 40.3% benign(0.003) tolerated(0.16) neutral(0.059) HMMPfam_Glyco_transf_25 SPTAN1 6709 genome.wustl.edu 37 9 131336952 131336952 + Splice_Site SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130438.1 +1 validated e3-2 1.000 161 0% 116 31.9% 1 100% - - - - TBC1D13 54662 genome.wustl.edu 37 9 131565682 131565682 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018201.3 +1 validated p.E233* 1.000 121 0% 160 33.8% 28 39.2% - - - HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC NUP188 23511 genome.wustl.edu 37 9 131730845 131730845 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015354.1 +1 validated p.E216* 1.000 148 0% 119 27.7% 9 55.5% - - - HMMPfam_Nup188 NUP188 23511 genome.wustl.edu 37 9 131756668 131756668 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015354.1 +1 validated p.N1012H 1.000 138 0% 128 21.1% 40 65% probably_damaging(0.997) tolerated(0.05) deleterious(0.811) NULL FAM73B 84895 genome.wustl.edu 37 9 131830726 131830726 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000413435 +1 known p.D571N 0.000 10 0% 14 42.9% 5 40% - - - HMMPfam_DUF2217 C9orf50 375759 genome.wustl.edu 37 9 132377860 132377860 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199350.3 -1 validated p.G261 0.001 35 0% 53 17% 0 - - - - NULL ASB6 140459 genome.wustl.edu 37 9 132401493 132401493 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017873.2 -1 reviewed p.A167T 0.136 24 0% 40 17.5% 17 11.7% possibly_damaging(0.83) tolerated(0.25) neutral(0.352) HMMPfam_Ank,superfamily_Ankyrin repeat USP20 10868 genome.wustl.edu 37 9 132632804 132632804 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008563.3 +1 validated p.F546L 1.000 151 0% 244 34% 22 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UCH,superfamily_SSF54001 FNBP1 23048 genome.wustl.edu 37 9 132691875 132691875 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015033.2 -1 reviewed p.Y205D 1.000 245 0% 154 28.6% 20 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR107 57720 genome.wustl.edu 37 9 132838690 132838690 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136557.1 +1 validated e3-1 1.000 283 0% 243 28.8% 2 100% - - - - FUBP3 8939 genome.wustl.edu 37 9 133485364 133485364 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003934.1 +1 validated p.V72L 1.000 242 0.4% 297 30% 33 45.4% benign(0.124) tolerated(0.8) neutral(0.011) superfamily_Eukaryotic type KH-domain (KH-domain type I) ABL1 25 genome.wustl.edu 37 9 133747572 133747572 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007313.2 +1 reviewed p.I312 1.000 64 0% 92 32.6% 42 45.2% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) LAMC3 10319 genome.wustl.edu 37 9 133928059 133928059 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006059.3 +1 reviewed p.E604D 0.092 37 0% 50 26% 2 0% benign(0.235) tolerated(0.52) neutral(0.032) HMMPfam_Laminin_B LAMC3 10319 genome.wustl.edu 37 9 133942450 133942450 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006059.3 +1 reviewed p.D817 1.000 28 0% 54 33.3% 4 0% - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 AIF1L 83543 genome.wustl.edu 37 9 133987019 133987019 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031426.3 +1 validated p.E43D 0.983 69 0% 148 33.8% 25 36% possibly_damaging(0.949) tolerated(0.12) deleterious(0.653) superfamily_EF-hand NUP214 8021 genome.wustl.edu 37 9 134014760 134014760 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005085.2 +1 reviewed p.V366 0.999 140 0% 86 27.9% 10 70% - - - NULL NUP214 8021 genome.wustl.edu 37 9 134050986 134050986 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005085.2 +1 reviewed p.R1099 0.984 36 0% 30 26.7% 29 48.2% - - - NULL PRRC2B 84726 genome.wustl.edu 37 9 134353937 134353937 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000451855 +1 known p.R297* 0.108 59 0% 119 31.9% 55 40% - - - NULL SETX 23064 genome.wustl.edu 37 9 135139873 135139873 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015046.5 -1 reviewed p.A2596D 0.001 22 0% 21 28.6% 24 45.8% benign(0.139) deleterious(0.01) neutral(0.418) NULL SETX 23064 genome.wustl.edu 37 9 135202168 135202168 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015046.5 -1 reviewed p.R1606Q 0.998 120 0% 55 40% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TTF1 7270 genome.wustl.edu 37 9 135273708 135273708 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007344.2 -1 validated p.A533T 0.006 139 0% 135 28.1% 6 66.6% benign(0.101) tolerated(0.37) neutral(0.026) NULL AK8 158067 genome.wustl.edu 37 9 135668126 135668126 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152572.2 -1 validated p.R339H 0.687 36 0% 33 15.2% 2 0% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases AK8 158067 genome.wustl.edu 37 9 135702320 135702320 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152572.2 -1 validated p.I226 0.107 96 0% 155 29.7% 1 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TSC1 7248 genome.wustl.edu 37 9 135787796 135787796 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000368.4 -1 reviewed p.I262 1.000 108 0% 86 24.4% 18 38.8% - - - HMMPfam_Hamartin GTF3C5 9328 genome.wustl.edu 37 9 135917595 135917595 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122823.1 +1 validated p.T92M 0.519 34 0% 30 33.3% 150 41.3% possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) HMMPfam_Tau95 CEL 1056 genome.wustl.edu 37 9 135944204 135944204 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001807.3 +1 reviewed p.I350 0.004 93 0% 159 10.7% 41 0% - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases GBGT1 26301 genome.wustl.edu 37 9 136029550 136029550 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021996.4 -1 validated p.A153V 0.075 51 0% 64 32.8% 5 0% benign(0.068) tolerated(0.22) neutral(0.046) HMMPfam_Glyco_transf_6,superfamily_Nucleotide-diphospho-sugar transferases ADAMTS13 11093 genome.wustl.edu 37 9 136294930 136294930 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000371911 +1 known p.R312I 0.000 16 0% 49 26.5% 1 100% unknown(0) deleterious(0.01) - NULL ADAMTS13 11093 genome.wustl.edu 37 9 136324376 136324376 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_024514.1 +1 reviewed NULL 0.000 21 0% 20 80% 3 100% - - - - SLC2A6 11182 genome.wustl.edu 37 9 136338628 136338628 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017585.3 -1 validated p.S377 0.000 21 0% 42 16.7% 9 22.2% - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter TMEM8C 389827 genome.wustl.edu 37 9 136389833 136389833 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080483.2 -1 validated p.A45V 1.000 40 0% 67 26.9% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL ADAMTSL2 9719 genome.wustl.edu 37 9 136405847 136405847 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145320.1 +1 reviewed p.C180 1.000 38 0% 82 29.3% 2 0% - - - NULL VAV2 7410 genome.wustl.edu 37 9 136662835 136662835 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134398.1 -1 reviewed p.V311 0.612 89 0% 148 34.5% 19 42.1% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) BRD3 8019 genome.wustl.edu 37 9 136899921 136899921 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007371.3 -1 reviewed p.S656L 0.999 117 0% 199 33.7% 30 23.3% benign(0.119) deleterious(0) neutral(0.454) NULL COL5A1 1289 genome.wustl.edu 37 9 137716562 137716562 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000371820 +1 known p.G25R 0.155 27 0% 48 14.6% 36 16.6% - - - NULL LCN1 3933 genome.wustl.edu 37 9 138415781 138415781 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002297.2 +1 reviewed p.I116 0.000 31 0% 76 43.4% 0 - - - - HMMPfam_Lipocalin,superfamily_Calycin GLT6D1 360203 genome.wustl.edu 37 9 138516385 138516385 + Missense_Mutation SNP C C T rs138281407 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182974.2 -1 provisional p.R130Q 0.000 27 0% 47 36.2% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_Glyco_transf_6,superfamily_SSF53448 GLT6D1 360203 genome.wustl.edu 37 9 138516451 138516451 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182974.2 -1 provisional p.R108Q 0.000 15 0% 19 36.8% 0 - probably_damaging(0.97) tolerated(0.08) deleterious(0.712) HMMPfam_Glyco_transf_6,superfamily_SSF53448 SOHLH1 402381 genome.wustl.edu 37 9 138590872 138590872 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101677.1 -1 validated p.R56W 0.005 17 0% 45 15.6% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain CAMSAP1 157922 genome.wustl.edu 37 9 138703317 138703317 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015447.3 -1 validated p.K1549N 1.000 300 0% 411 33.3% 27 55.5% benign(0.32) tolerated(0.29) neutral(0.129) superfamily_PRC-barrel domain,HMMPfam_DUF1781 GPSM1 26086 genome.wustl.edu 37 9 139232363 139232363 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145638.1 +1 validated p.L255M 1.000 29 0% 83 28.9% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like SEC16A 9919 genome.wustl.edu 37 9 139347909 139347909 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014866.1 -1 validated p.E2044* 0.552 64 0% 132 24.2% 19 0% - - - NULL FAM69B 138311 genome.wustl.edu 37 9 139617773 139617773 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152421.3 +1 validated p.F281 0.866 30 0% 50 16% 64 51.5% - - - NULL KIAA1984 84960 genome.wustl.edu 37 9 139701214 139701214 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039374.4 +1 validated p.E428D 0.944 22 0% 51 35.3% 0 - possibly_damaging(0.918) tolerated(0.68) neutral(0.370) NULL TRAF2 7186 genome.wustl.edu 37 9 139820243 139820243 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021138.3 +1 reviewed p.A466T 1.000 57 0% 92 30.4% 43 37.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like FBXW5 54461 genome.wustl.edu 37 9 139836698 139836698 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018998.2 -1 reviewed p.K299R 0.930 47 0% 54 31.5% 150 38.6% benign(0.282) tolerated(0.41) neutral(0.101) superfamily_WD40 repeat-like UAP1L1 91373 genome.wustl.edu 37 9 139974564 139974564 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207309.2 +1 validated p.K383T 1.000 402 0% 660 31.8% 26 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_UDPGP,superfamily_Nucleotide-diphospho-sugar transferases PNPLA7 375775 genome.wustl.edu 37 9 140396180 140396180 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098537.1 -1 validated e15-1 1.000 40 0% 68 32.4% 0 - - - - - PNPLA7 375775 genome.wustl.edu 37 9 140437914 140437914 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098537.1 -1 validated p.S159L 0.989 61 0% 82 24.4% 1 0% possibly_damaging(0.559) tolerated(0.12) neutral(0.451) NULL MRPL41 64975 genome.wustl.edu 37 9 140446740 140446740 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032477.2 +1 reviewed p.K69N 0.995 30 0% 64 20.3% 363 38.5% benign(0.251) tolerated(0.16) neutral(0.085) HMMPfam_MRP-L27 CACNA1B 774 genome.wustl.edu 37 9 140952624 140952624 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000718.2 +1 validated p.I1410 1.000 407 0% 448 32.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 140952693 140952693 + Missense_Mutation SNP G G T rs187746060 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000718.2 +1 validated p.E1433D 1.000 209 0% 217 29% 3 66.6% possibly_damaging(0.895) tolerated(0.46) neutral(0.365) NULL ZMYND11 10771 genome.wustl.edu 37 10 288059 288059 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006624.4 +1 reviewed p.F270L 1.000 169 0% 124 27.4% 56 35.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PWWP,HMMSmart_PWWP,superfamily_SSF63748 DIP2C 22982 genome.wustl.edu 37 10 334311 334311 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014974.2 -1 reviewed p.S1346L 1.000 157 0% 204 30.9% 10 0% possibly_damaging(0.9) deleterious(0) deleterious(0.801) HMMPfam_AMP-binding,superfamily_SSF56801 DIP2C 22982 genome.wustl.edu 37 10 465122 465122 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014974.2 -1 reviewed p.P208T 1.000 111 0% 206 31.6% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LARP4B 23185 genome.wustl.edu 37 10 875510 875510 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015155.1 -1 provisional p.A314T 1.000 96 0% 91 30.8% 23 21.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL WDR37 22884 genome.wustl.edu 37 10 1123904 1123904 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014023.3 +1 reviewed p.E66* 1.000 135 0% 190 27.4% 3 0% - - - NULL PITRM1 10531 genome.wustl.edu 37 10 3181153 3181153 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014889.2 -1 validated p.E954K 1.000 125 0% 185 66.5% 187 95.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase KLF6 1316 genome.wustl.edu 37 10 3822370 3822370 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001300.5 -1 reviewed p.R243K 1.000 123 0% 227 23.8% 24 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers AKR1C2 1646 genome.wustl.edu 37 10 5038000 5038000 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001354.4 -1 reviewed p.D210Y 0.991 169 0% 112 33% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red AKR1CL1 340811 genome.wustl.edu 37 10 5204879 5204879 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000380510 -1 known p.Q66H 0.984 138 0% 85 21.2% 0 - possibly_damaging(0.626) deleterious(0.02) deleterious(0.601) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase FAM208B 54906 genome.wustl.edu 37 10 5772888 5772888 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017782.4 +1 validated p.F309S 0.970 165 0% 73 35.6% 3 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL FAM208B 54906 genome.wustl.edu 37 10 5789715 5789715 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017782.4 +1 validated p.E1444A 0.000 59 0% 62 22.6% 15 40% benign(0.007) tolerated(1) - NULL FAM208B 54906 genome.wustl.edu 37 10 5790031 5790031 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017782.4 +1 validated p.G1549 0.800 80 0% 81 27.2% 9 44.4% - - - NULL FAM208B 54906 genome.wustl.edu 37 10 5791635 5791635 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017782.4 +1 validated p.R2084I 0.001 45 0% 55 34.5% 17 58.8% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL ANKRD16 54522 genome.wustl.edu 37 10 5929946 5929946 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009941.2 -1 validated p.K133N 1.000 132 0% 232 30.6% 14 64.2% benign(0.311) deleterious(0.03) neutral(0.462) HMMPfam_Ank,superfamily_ANK ITIH5 80760 genome.wustl.edu 37 10 7618930 7618930 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030569.5 -1 validated p.I488 0.002 71 0% 136 29.4% 53 39.6% - - - NULL ITIH2 3698 genome.wustl.edu 37 10 7745475 7745475 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002216.2 +1 validated p.L26 0.016 199 0% 121 29.8% 0 - - - - NULL TAF3 83860 genome.wustl.edu 37 10 7866478 7866478 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031923.2 +1 provisional p.E122* 1.000 225 0% 284 30.6% 2 50% - - - NULL UPF2 26019 genome.wustl.edu 37 10 12077195 12077195 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015542.2 -1 reviewed p.D76 0.988 587 0.2% 503 28.2% 5 20% - - - NULL SEC61A2 55176 genome.wustl.edu 37 10 12191667 12191667 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018144.3 +1 reviewed p.K98N 1.000 157 0% 125 28.8% 13 38.4% benign(0.038) tolerated(0.09) neutral(0.298) HMMPfam_SecY,superfamily_Preprotein translocase SecY subunit CDC123 8872 genome.wustl.edu 37 10 12291719 12291719 + Splice_Site SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006023.2 +1 validated e12+2 1.000 91 0% 97 28.9% 9 100% - - - - OPTN 10133 genome.wustl.edu 37 10 13160939 13160939 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000424614 +1 known p.S42L 0.405 93 0% 88 25% 100 39% - - - NULL PHYH 5264 genome.wustl.edu 37 10 13325814 13325814 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006214.3 -1 reviewed p.G235V 1.000 147 0% 121 33.1% 86 34.8% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_PhyH FRMD4A 55691 genome.wustl.edu 37 10 13702480 13702480 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018027.3 -1 validated p.S578 0.762 126 0% 246 31.3% 31 32.2% - - - NULL MEIG1 644890 genome.wustl.edu 37 10 15008591 15008591 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080836.2 +1 validated p.K42E 1.000 69 0% 65 46.2% 0 - benign(0.167) tolerated(0.13) neutral(0.268) NULL OLAH 55301 genome.wustl.edu 37 10 15115162 15115162 + Silent SNP G G A rs35647166 byCluster;byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018324.2 +1 validated p.A297 0.001 151 0% 114 29.8% 0 - - - - HMMPfam_Thioesterase,superfamily_SSF53474 ACBD7 414149 genome.wustl.edu 37 10 15120583 15120583 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039844.2 -1 validated p.A71 1.000 225 0% 191 28.8% 3 66.6% - - - HMMPfam_ACBP,superfamily_Acyl-CoA binding protein ITGA8 8516 genome.wustl.edu 37 10 15614358 15614358 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003638.1 -1 provisional p.I830N 0.989 68 0% 41 26.8% 0 - possibly_damaging(0.843) tolerated(0.57) neutral(0.329) HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGA8 8516 genome.wustl.edu 37 10 15655758 15655758 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003638.1 -1 provisional p.P485Q 0.995 131 0% 56 33.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGA8 8516 genome.wustl.edu 37 10 15760842 15760842 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003638.1 -1 provisional p.E89A 1.000 63 0% 78 30.8% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_Int_alpha,superfamily_SSF69318 FAM188A 80013 genome.wustl.edu 37 10 15820996 15820996 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024948.2 -1 validated p.N445H 1.000 128 0% 49 28.6% 19 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM188A 80013 genome.wustl.edu 37 10 15821132 15821132 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024948.2 -1 validated p.Y399 0.990 150 0% 54 40.7% 17 52.9% - - - NULL FAM188A 80013 genome.wustl.edu 37 10 15838119 15838119 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024948.2 -1 validated p.F312C 1.000 91 0% 32 43.8% 14 42.8% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_EF-hand FAM188A 80013 genome.wustl.edu 37 10 15885240 15885240 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024948.2 -1 validated p.S69L 1.000 80 0% 55 36.4% 11 45.4% benign(0.001) tolerated(0.73) neutral(0.002) NULL MRC1 4360 genome.wustl.edu 37 10 17898270 17898270 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009567.1 +1 reviewed p.R476W 0.059 79 0% 48 25% 1 0% possibly_damaging(0.852) deleterious(0.04) deleterious(0.676) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 SLC39A12 221074 genome.wustl.edu 37 10 18250731 18250731 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145195.1 +1 validated p.Q161 0.994 74 0% 41 19.5% 0 - - - - NULL CACNB2 783 genome.wustl.edu 37 10 18787377 18787377 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201596.2 +1 reviewed p.E143K 1.000 144 0% 78 33.3% 0 - benign(0.183) tolerated(0.07) neutral(0.336) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain NSUN6 221078 genome.wustl.edu 37 10 18931457 18931457 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182543.2 -1 validated p.L87I 1.000 124 0% 120 23.3% 7 14.2% benign(0.025) tolerated(0.2) neutral(0.050) superfamily_S-adenosyl-L-methionine-dependent methyltransferases PLXDC2 84898 genome.wustl.edu 37 10 20508022 20508022 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032812.7 +1 provisional p.D435Y 1.000 171 0% 88 28.4% 10 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL NEBL 10529 genome.wustl.edu 37 10 21074700 21074700 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006393.2 -1 reviewed p.A1007 0.075 67 0% 28 32.1% 1 0% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain NEBL 10529 genome.wustl.edu 37 10 21115388 21115388 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006393.2 -1 reviewed p.Q619H 1.000 245 0% 76 23.7% 0 - benign(0.002) tolerated(0.18) neutral(0.056) HMMPfam_Nebulin,HMMSmart_SM00227 NEBL 10529 genome.wustl.edu 37 10 21147262 21147262 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006393.2 -1 reviewed p.K270N 1.000 249 0% 130 32.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00227 NEBL 10529 genome.wustl.edu 37 10 21186104 21186104 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006393.2 -1 reviewed p.D11Y 0.983 388 0% 224 27.2% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL RNU6-15 100302741 genome.wustl.edu 37 10 21610895 21610895 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384534 +1 known NULL 0.188 46 0% 122 38.5% 0 - - - - - SPAG6 9576 genome.wustl.edu 37 10 22676871 22676871 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012443.2 +1 reviewed p.Y266 0.619 141 0% 69 30.4% 0 - - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat PIP4K2A 5305 genome.wustl.edu 37 10 22826151 22826151 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005028.4 -1 reviewed p.F400L 1.000 171 0% 120 50.8% 64 35.9% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like ARMC3 219681 genome.wustl.edu 37 10 23297787 23297787 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173081.3 +1 validated p.E658* 1.000 112 0% 92 21.7% 0 - - - - NULL C10orf67 256815 genome.wustl.edu 37 10 23622110 23622110 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153714.2 -1 validated p.L71I 0.001 162 0% 142 36.6% 0 - benign(0.168) tolerated(0.07) neutral(0.334) NULL KIAA1217 56243 genome.wustl.edu 37 10 24783450 24783450 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019590.3 +1 validated p.E567D 1.000 108 0% 75 22.7% 15 53.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL KIAA1217 56243 genome.wustl.edu 37 10 24831959 24831959 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019590.3 +1 validated p.D1254Y 0.979 30 0% 18 33.3% 23 56.5% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) NULL KIAA1217 56243 genome.wustl.edu 37 10 24832230 24832230 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019590.3 +1 validated p.D1344G 0.003 81 0% 58 31% 50 54% benign(0) tolerated(0.28) neutral(0.032) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24908426 24908426 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020824.3 -1 validated p.S800A 1.000 62 0% 27 25.9% 23 52.1% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL THNSL1 79896 genome.wustl.edu 37 10 25313489 25313489 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024838.4 +1 validated p.R446I 0.980 191 0% 147 28.6% 4 100% possibly_damaging(0.724) deleterious(0.02) deleterious(0.646) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes GPR158 57512 genome.wustl.edu 37 10 25861728 25861728 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020752.2 +1 validated p.Q555H 0.524 269 0% 122 27% 0 - benign(0) tolerated(0.34) neutral(0.023) HMMPfam_7tm_3 GPR158 57512 genome.wustl.edu 37 10 25886793 25886793 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020752.2 +1 validated p.S746 0.009 71 0% 44 31.8% 0 - - - - NULL GPR158 57512 genome.wustl.edu 37 10 25887999 25887999 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020752.2 +1 validated p.E1148D 0.822 91 0% 34 26.5% 0 - benign(0.005) tolerated(0.61) neutral(0.004) NULL MYO3A 53904 genome.wustl.edu 37 10 26310573 26310573 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017433.4 +1 reviewed p.P243S 1.000 87 0% 35 11.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYO3A 53904 genome.wustl.edu 37 10 26357705 26357705 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017433.4 +1 reviewed p.V354 0.734 128 0% 88 43.2% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26436382 26436382 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017433.4 +1 reviewed p.F843L 1.000 135 0% 57 40.4% 0 - possibly_damaging(0.887) tolerated(0.09) deleterious(0.643) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 GAD2 2572 genome.wustl.edu 37 10 26505776 26505776 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000818.2 +1 reviewed p.S13L 1.000 81 0% 110 12.7% 0 - benign(0.002) deleterious(0.04) neutral(0.349) NULL GAD2 2572 genome.wustl.edu 37 10 26512880 26512880 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000818.2 +1 reviewed p.W195* 1.000 212 0% 296 33.8% 0 - - - - HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases GAD2 2572 genome.wustl.edu 37 10 26534913 26534913 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000818.2 +1 reviewed p.I302L 1.000 195 0% 104 37.5% 0 - benign(0.001) tolerated(0.07) neutral(0.319) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases GAD2 2572 genome.wustl.edu 37 10 26559586 26559586 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000818.2 +1 reviewed p.L331 0.996 160 0% 89 27% 0 - - - - HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases ANKRD26 22852 genome.wustl.edu 37 10 27324307 27324307 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014915.2 -1 validated p.E1024D 1.000 267 0% 165 24.8% 5 60% benign(0.066) tolerated(0.3) neutral(0.033) NULL YME1L1 10730 genome.wustl.edu 37 10 27437870 27437870 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139312.1 -1 reviewed p.D45Y 0.996 120 0% 167 36.5% 60 36.6% benign(0.273) tolerated(0.2) neutral(0.078) NULL MASTL 84930 genome.wustl.edu 37 10 27459497 27459497 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032844.3 +1 reviewed p.D537N 0.999 93 0% 66 36.4% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like MASTL 84930 genome.wustl.edu 37 10 27469990 27469990 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032844.3 +1 reviewed p.K791I 1.000 135 0% 82 43.9% 8 37.5% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) superfamily_Kinase_like,HMMPfam_Pkinase MASTL 84930 genome.wustl.edu 37 10 27470465 27470465 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032844.3 +1 reviewed p.E812* 1.000 120 0% 97 27.8% 13 7.6% - - - superfamily_Kinase_like,HMMPfam_Pkinase ACBD5 91452 genome.wustl.edu 37 10 27524067 27524067 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145698.3 -1 validated p.K86Q 1.000 125 0% 166 36.1% 12 41.6% benign(0.002) tolerated(0.29) neutral(0.029) HMMPfam_ACBP,superfamily_ACBP ARMC4 55130 genome.wustl.edu 37 10 28196681 28196681 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018076.2 -1 validated p.R841C 1.000 111 0% 52 32.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00185,superfamily_ARM repeat ARMC4 55130 genome.wustl.edu 37 10 28274091 28274091 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018076.2 -1 validated p.M144I 0.002 130 0% 66 37.9% 0 - benign(0) tolerated(1) - NULL MPP7 143098 genome.wustl.edu 37 10 28348653 28348653 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173496.3 -1 validated p.R408 1.000 181 0% 92 22.8% 9 22.2% - - - HMMPfam_Guanylate_kin,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540 WAC 51322 genome.wustl.edu 37 10 28903595 28903595 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016628.3 +1 reviewed p.R513* 0.997 69 0% 91 36.3% 110 15.4% - - - NULL MTPAP 55149 genome.wustl.edu 37 10 30654207 30654207 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000358107 -1 known p.R19I 0.025 23 0% 24 29.2% 0 - unknown(0) - - NULL LOC645954 645954 genome.wustl.edu 37 10 30960510 30960510 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_017086.3 +1 model NULL 1.000 51 0% 38 34.2% 0 - - - - - ZEB1 6935 genome.wustl.edu 37 10 31809553 31809553 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030751.5 +1 reviewed p.E430D 1.000 73 0% 26 26.9% 4 0% probably_damaging(0.984) tolerated(0.83) neutral(0.431) NULL ARHGAP12 94134 genome.wustl.edu 37 10 32106754 32106754 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018287.5 -1 provisional p.D565Y 1.000 150 0% 87 35.6% 7 57.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KIF5B 3799 genome.wustl.edu 37 10 32306176 32306176 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004521.2 -1 validated p.E886* 1.000 223 0% 212 34.9% 43 9.3% - - - NULL KIF5B 3799 genome.wustl.edu 37 10 32322806 32322806 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004521.2 -1 validated p.E424 1.000 264 0% 205 35.1% 26 73% - - - NULL KIF5B 3799 genome.wustl.edu 37 10 32329368 32329368 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004521.2 -1 validated p.N78H 1.000 234 0% 175 34.9% 29 24.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 EPC1 80314 genome.wustl.edu 37 10 32581568 32581568 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025209.2 -1 provisional p.R224H 1.000 158 0% 109 31.2% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC7 221016 genome.wustl.edu 37 10 32740748 32740748 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001026383.1 +1 validated p.E60* 1.000 87 0% 120 35% 3 0% - - - NULL CCDC7 221016 genome.wustl.edu 37 10 32807394 32807394 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001026383.1 +1 validated p.L318F 0.001 184 0% 193 11.9% 0 - possibly_damaging(0.922) deleterious(0.04) deleterious(0.720) NULL C10orf68 79741 genome.wustl.edu 37 10 33017848 33017848 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024688.2 +1 validated p.S208Y 0.001 140 0% 50 42% 1 0% benign(0.075) tolerated(0.2) neutral(0.054) NULL ITGB1 3688 genome.wustl.edu 37 10 33218762 33218762 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033667.2 -1 reviewed p.R122* 0.237 293 0% 133 24.1% 83 6% - - - HMMPfam_Integrin_beta,HMMSmart_INB CUL2 8453 genome.wustl.edu 37 10 35320284 35320284 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003591.2 -1 provisional p.I444F 1.000 178 0% 142 29.6% 28 32.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin,HMMSmart_SM00182,superfamily_Cullin homology domain CREM 1390 genome.wustl.edu 37 10 35500237 35500237 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183011.1 +1 reviewed p.N271H 1.000 105 0% 187 34.2% 32 37.5% benign(0.216) deleterious(0) neutral(0.466) HMMSmart_SM00338,HMMPfam_bZIP_1 GJD4 219770 genome.wustl.edu 37 10 35897020 35897020 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153368.2 +1 validated p.E193D 1.000 6 0.000 16 0.312 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Connexin_CCC ANKRD30A 91074 genome.wustl.edu 37 10 37440996 37440996 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052997.2 +1 validated p.F496L 0.006 407 0% 219 32.9% 0 - benign(0.053) tolerated(0.13) neutral(0.256) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37442578 37442578 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052997.2 +1 validated p.G540* 0.004 145 0% 67 16.4% 0 - - - - NULL LOC646360 646360 genome.wustl.edu 37 10 37626786 37626786 + RNA SNP G G A rs144068387 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_078419.1 +1 model NULL 1.000 135 0.7% 93 26.9% 0 - - - - - ZNF248 57209 genome.wustl.edu 37 10 38120816 38120816 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021045.1 -1 provisional p.E489D 1.000 257 0% 170 23.5% 13 38.4% possibly_damaging(0.918) tolerated(0.18) neutral(0.424) superfamily_C2H2 and C2HC zinc fingers LOC340947 340947 genome.wustl.edu 37 10 38369419 38369419 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001131609.2 -1 model p.F172L 1.000 50 0% 56 41.1% 1 0% - - - HMMPfam_Paf67 ZNF37A 7587 genome.wustl.edu 37 10 38407732 38407732 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007094.2 +1 validated p.I551 0.005 97 0% 39 28.2% 3 66.6% - - - superfamily_C2H2 and C2HC zinc fingers BMS1 9790 genome.wustl.edu 37 10 43288475 43288475 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014753.3 +1 reviewed p.K324N 1.000 110 0% 79 30.4% 23 8.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_P-loop containing nucleoside triphosphate hydrolases BMS1 9790 genome.wustl.edu 37 10 43315744 43315744 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014753.3 +1 reviewed p.R881* 1.000 222 0% 247 25.9% 23 8.6% - - - HMMPfam_DUF663 RET 5979 genome.wustl.edu 37 10 43597794 43597794 + Silent SNP C C T rs143083395 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020975.4 +1 reviewed p.R114 0.114 71 0% 115 37.4% 1 100% - - - NULL RET 5979 genome.wustl.edu 37 10 43615088 43615088 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020975.4 +1 reviewed p.N834 1.000 17 0% 41 36.6% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like RET 5979 genome.wustl.edu 37 10 43615593 43615593 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020975.4 +1 reviewed p.S891L 1.000 98 0% 170 36.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like CSGALNACT2 55454 genome.wustl.edu 37 10 43650711 43650711 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018590.3 +1 provisional p.T38 0.998 174 0.6% 169 26% 5 40% - - - HMMPfam_CHGN CXCL12 6387 genome.wustl.edu 37 10 44876228 44876228 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033886.2 -1 reviewed p.N54 1.000 187 0% 269 32% 15 0% - - - HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 RASSF4 83937 genome.wustl.edu 37 10 45487428 45487428 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032023.3 +1 reviewed p.E295* 1.000 182 0% 214 33.2% 15 0% - - - NULL ALOX5 240 genome.wustl.edu 37 10 45877990 45877990 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000698.2 +1 reviewed p.I70 0.955 76 0% 96 33.3% 19 0% - - - HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase ALOX5 240 genome.wustl.edu 37 10 45919567 45919567 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000698.2 +1 reviewed p.I211 1.000 137 0% 228 10.5% 17 0% - - - HMMPfam_Lipoxygenase,superfamily_Lipoxygenase ALOX5 240 genome.wustl.edu 37 10 45936008 45936008 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000698.2 +1 reviewed p.R371Q 1.000 75 0% 115 27.8% 26 0% possibly_damaging(0.861) tolerated(0.48) neutral(0.344) HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,superfamily_Lipoxygenase ZFAND4 93550 genome.wustl.edu 37 10 46113652 46113652 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128324.1 -1 validated p.K662Q 1.000 113 0% 79 38% 3 33.3% benign(0.364) deleterious(0.01) deleterious(0.522) NULL ZFAND4 93550 genome.wustl.edu 37 10 46143858 46143858 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128324.1 -1 validated p.L151F 0.998 98 0% 53 13.2% 3 0% possibly_damaging(0.612) deleterious(0) deleterious(0.656) NULL PPYR1 5540 genome.wustl.edu 37 10 47087704 47087704 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005972.4 +1 validated p.C307 1.000 212 0% 289 17.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RBP3 5949 genome.wustl.edu 37 10 48382178 48382178 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002900.2 -1 reviewed p.I1157 1.000 46 0% 59 28.8% 0 - - - - HMMPfam_Peptidase_S41,HMMSmart_SM00245,superfamily_ClpP/crotonase FRMPD2 143162 genome.wustl.edu 37 10 49420012 49420012 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001018071.3 -1 reviewed p.E532D 0.999 82 0% 41 26.8% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 WDFY4 57705 genome.wustl.edu 37 10 50011369 50011369 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000312002 +1 known p.L574I 1.000 136 0% 113 34.5% 3 0% - - - NULL WDFY4 57705 genome.wustl.edu 37 10 50013401 50013401 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000312002 +1 known p.L618F 0.997 89 0% 55 32.7% 4 0% - - - NULL LRRC18 474354 genome.wustl.edu 37 10 50121505 50121505 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006939.3 -1 validated p.P232 0.000 224 0% 159 34.6% 0 - - - - NULL WDFY4 57705 genome.wustl.edu 37 10 50154114 50154114 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020945.1 +1 validated p.F2593L 1.000 99 0% 55 25.5% 4 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Beach,superfamily_BEACH domain WDFY4 57705 genome.wustl.edu 37 10 50190553 50190553 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020945.1 +1 validated e61-1 1.000 38 0% 31 19.4% 0 - - - - - C10orf71 118461 genome.wustl.edu 37 10 50532260 50532260 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135196.1 +1 validated p.S557Y 0.000 48 0% 46 26.1% 0 - possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) NULL CHAT 1103 genome.wustl.edu 37 10 50824587 50824587 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020549.4 +1 reviewed p.T109M 0.991 96 0% 114 29.8% 0 - benign(0) deleterious(0.04) neutral(0.349) NULL CHAT 1103 genome.wustl.edu 37 10 50856607 50856607 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020549.4 +1 reviewed p.D446N 1.000 33 0% 45 31.1% 0 - possibly_damaging(0.555) deleterious(0) deleterious(0.634) HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_2,superfamily_CoA-dependent acyltransferases PARG 8505 genome.wustl.edu 37 10 51040912 51040912 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003631.2 -1 reviewed p.L862I 1.000 124 0% 58 25.9% 15 33.3% probably_damaging(0.998) tolerated(0.2) deleterious(0.523) HMMPfam_PARG_cat PARG 8505 genome.wustl.edu 37 10 51087793 51087793 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003631.2 -1 reviewed p.F638L 1.000 186 0% 78 35.9% 13 46.1% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_PARG_cat AGAP7 653268 genome.wustl.edu 37 10 51465619 51465619 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077685.1 -1 provisional p.K279N 1.000 31 0% 31 48.4% 5 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 AGAP6 414189 genome.wustl.edu 37 10 51769233 51769233 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077665.2 +1 validated p.E450K 1.000 48 0% 51 27.5% 7 14.2% benign(0.004) tolerated(0.21) neutral(0.044) superfamily_PH domain-like FAM21A 387680 genome.wustl.edu 37 10 51889673 51889673 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005751.1 +1 validated p.K1194N 0.998 249 0% 172 26.7% 17 29.4% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL SGMS1 259230 genome.wustl.edu 37 10 52067837 52067837 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_147156.3 -1 reviewed p.L323I 1.000 52 0% 30 36.7% 21 47.6% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL LOC100288158 100288158 genome.wustl.edu 37 10 54074156 54074156 + Nonstop_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002342990.1 -1 model p.*136W 0.001 19 0% 34 29.4% 0 - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55566569 55566569 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142771.1 -1 reviewed p.N1607H 1.000 219 0% 75 18.7% 2 50% benign(0) deleterious(0.04) neutral(0.349) NULL PCDH15 65217 genome.wustl.edu 37 10 55568543 55568543 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142769.1 -1 reviewed p.G1761D 0.975 232 0% 244 32.4% 0 - unknown(0) deleterious(0) - NULL PCDH15 65217 genome.wustl.edu 37 10 55582525 55582525 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142763.1 -1 reviewed p.K1661T 0.000 175 0% 212 28.8% 0 - benign(0.103) deleterious(0.01) neutral(0.414) NULL FAM13C 220965 genome.wustl.edu 37 10 61011369 61011369 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143773.1 -1 validated p.E451* 1.000 211 0% 113 26.5% 2 50% - - - NULL CCDC6 8030 genome.wustl.edu 37 10 61612436 61612436 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005436.3 -1 validated p.E110* 1.000 221 0% 83 30.1% 12 16.6% - - - HMMPfam_DUF2046 ANK3 288 genome.wustl.edu 37 10 61830185 61830185 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020987.2 -1 reviewed p.S3485Y 0.027 107 0% 34 20.6% 0 - possibly_damaging(0.909) - - NULL ANK3 288 genome.wustl.edu 37 10 61830576 61830576 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020987.2 -1 reviewed p.S3355P 0.007 290 0% 154 16.9% 0 - benign(0.004) - - NULL ANK3 288 genome.wustl.edu 37 10 61830794 61830794 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020987.2 -1 reviewed p.I3282S 0.944 137 0% 71 26.8% 0 - benign(0.018) - - NULL ANK3 288 genome.wustl.edu 37 10 61833320 61833320 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020987.2 -1 reviewed p.L2440R 1.000 113 0% 34 35.3% 0 - probably_damaging(0.991) - - NULL CDK1 983 genome.wustl.edu 37 10 62551966 62551966 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001786.4 +1 reviewed p.K238N 1.000 141 0% 59 39% 75 33.3% possibly_damaging(0.939) tolerated(0.15) deleterious(0.625) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RHOBTB1 9886 genome.wustl.edu 37 10 62648592 62648592 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014836.4 -1 reviewed p.I278 1.000 165 0% 70 27.1% 11 54.5% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB C10orf107 219621 genome.wustl.edu 37 10 63441032 63441032 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173554.2 +1 validated p.F11C 1.000 213 0% 91 31.9% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ARID5B 84159 genome.wustl.edu 37 10 63852614 63852614 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032199.2 +1 validated p.F1131C 1.000 115 0% 76 34.2% 19 15.7% possibly_damaging(0.716) deleterious(0) deleterious(0.704) NULL RTKN2 219790 genome.wustl.edu 37 10 64022544 64022544 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145307.2 -1 provisional p.R33* 1.000 133 0% 149 30.2% 4 25% - - - HMMSmart_SM00742 ZNF365 22891 genome.wustl.edu 37 10 64136496 64136496 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199451.2 +1 reviewed p.K182E 0.999 44 0% 72 31.9% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL JMJD1C 221037 genome.wustl.edu 37 10 64952874 64952874 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032776.1 -1 validated p.S1967Y 1.000 181 0% 78 32.1% 11 63.6% benign(0.257) deleterious(0) deleterious(0.471) NULL JMJD1C 221037 genome.wustl.edu 37 10 64960409 64960409 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032776.1 -1 validated p.D1701E 0.908 103 0% 65 32.3% 6 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CTNNA3 29119 genome.wustl.edu 37 10 68280387 68280387 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127384.1 -1 validated p.L507I 1.000 136 0% 51 21.6% 0 - possibly_damaging(0.927) deleterious(0) deleterious(0.820) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin LRRTM3 347731 genome.wustl.edu 37 10 68687077 68687077 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178011.3 +1 validated p.L135V 1.000 57 0% 34 35.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like CTNNA3 29119 genome.wustl.edu 37 10 69366751 69366751 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127384.1 -1 validated p.S52 0.242 264 0% 139 36% 0 - - - - HMMPfam_Vinculin HERC4 26091 genome.wustl.edu 37 10 69748511 69748511 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022079.2 -1 validated p.K572T 1.000 65 0% 39 43.6% 8 37.5% benign(0.002) tolerated(0.35) neutral(0.021) NULL HERC4 26091 genome.wustl.edu 37 10 69832808 69832808 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022079.2 -1 validated p.E20* 1.000 139 0% 236 31.4% 11 27.2% - - - superfamily_RCC1/BLIP-II MYPN 84665 genome.wustl.edu 37 10 69881862 69881862 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032578.2 +1 validated p.E223* 1.000 51 0% 31 35.5% 0 - - - - NULL ENSG00000222371 0 genome.wustl.edu 37 10 69918084 69918084 + RNA SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000410439 +1 novel NULL 0.004 51 0% 13 46.2% 0 - - - - - MYPN 84665 genome.wustl.edu 37 10 69954157 69954157 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032578.2 +1 validated p.R988I 1.000 97 0% 61 29.5% 0 - possibly_damaging(0.805) tolerated(0.08) deleterious(0.603) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HNRNPH3 3189 genome.wustl.edu 37 10 70098418 70098418 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012207.2 +1 reviewed p.R137Q 1.000 268 0% 305 34.1% 196 40.8% possibly_damaging(0.763) tolerated(0.07) deleterious(0.602) NULL RUFY2 55680 genome.wustl.edu 37 10 70161440 70161440 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017987.4 -1 validated p.V113A 1.000 196 0% 255 35.3% 5 40% possibly_damaging(0.775) deleterious(0) deleterious(0.733) HMMPfam_RUN DNA2 1763 genome.wustl.edu 37 10 70190402 70190402 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080449.1 -1 provisional p.A753T 1.000 113 0% 83 19.3% 10 30% benign(0.015) tolerated(0.06) neutral(0.323) superfamily_P-loop containing nucleoside triphosphate hydrolases TET1 80312 genome.wustl.edu 37 10 70333858 70333858 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030625.2 +1 validated p.R588I 1.000 50 0% 59 35.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-CXXC TET1 80312 genome.wustl.edu 37 10 70405958 70405958 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030625.2 +1 validated p.R1158W 0.012 133 0% 115 35.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TET1 80312 genome.wustl.edu 37 10 70450630 70450630 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030625.2 +1 validated p.S1824R 0.349 82 0% 81 29.6% 5 20% benign(0.016) deleterious(0.01) neutral(0.406) NULL DDX21 9188 genome.wustl.edu 37 10 70719647 70719647 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004728.2 +1 reviewed p.V58G 0.547 57 0% 76 31.6% 7 0% benign(0.077) tolerated(0.09) neutral(0.302) NULL DDX21 9188 genome.wustl.edu 37 10 70719812 70719812 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004728.2 +1 reviewed p.K113T 0.951 76 0% 75 29.3% 3 100% possibly_damaging(0.671) tolerated(0.14) deleterious(0.487) NULL HK1 3098 genome.wustl.edu 37 10 71124653 71124653 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033497.2 +1 reviewed p.D168Y 1.000 157 0% 180 35% 49 36.7% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Hexokinase_1,PatternScan_HEXOKINASES,superfamily_SSF53067 PRF1 5551 genome.wustl.edu 37 10 72358324 72358324 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083116.1 -1 reviewed p.R385W 0.039 23 0% 18 38.9% 26 0% possibly_damaging(0.847) tolerated(0.18) neutral(0.381) NULL ADAMTS14 140766 genome.wustl.edu 37 10 72496501 72496501 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139155.2 +1 reviewed p.K520N 1.000 85 0% 98 33.7% 2 100% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL ADAMTS14 140766 genome.wustl.edu 37 10 72509660 72509660 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139155.2 +1 reviewed p.G785 1.000 35 0% 50 36% 0 - - - - HMMPfam_ADAM_spacer1 ADAMTS14 140766 genome.wustl.edu 37 10 72518042 72518042 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139155.2 +1 reviewed e21+1 1.000 81 0% 81 27.2% 0 - - - - - ADAMTS14 140766 genome.wustl.edu 37 10 72520513 72520513 + Silent SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139155.2 +1 reviewed p.T1195 0.007 56 0% 82 35.4% 2 50% - - - NULL CDH23 64072 genome.wustl.edu 37 10 73326604 73326604 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022124.5 +1 reviewed p.A179T 0.560 45 0% 39 25.6% 2 0% benign(0.002) tolerated(0.47) neutral(0.011) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73461850 73461850 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022124.5 +1 reviewed p.F823L 1.000 58 0% 105 28.6% 7 57.1% possibly_damaging(0.889) tolerated(0.4) neutral(0.365) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73491805 73491805 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022124.5 +1 reviewed p.D1259 0.633 63 0% 99 33.3% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73558166 73558166 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022124.5 +1 reviewed p.P2295 1.000 47 0% 73 31.5% 0 - - - - superfamily_Cadherin-like OIT3 170392 genome.wustl.edu 37 10 74684367 74684367 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152635.1 +1 provisional p.I444 0.818 39 0% 33 33.3% 0 - - - - HMMPfam_Zona_pellucida,HMMSmart_SM00241 ECD 11319 genome.wustl.edu 37 10 74896465 74896465 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135752.1 -1 validated p.Q600H 0.872 134 0% 100 36% 61 36% benign(0.021) tolerated(0.13) neutral(0.254) HMMPfam_SGT1 ECD 11319 genome.wustl.edu 37 10 74923639 74923639 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135752.1 -1 validated p.F19L 0.999 160 1.3% 216 37.5% 14 50% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_SGT1 FAM149B1 317662 genome.wustl.edu 37 10 74990256 74990256 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000372955 +1 known p.E300* 1.000 97 0% 80 32.5% 26 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TTC18 118491 genome.wustl.edu 37 10 75108276 75108276 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145170.3 -1 validated p.T85N 0.993 81 0% 91 18.7% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ANXA7 310 genome.wustl.edu 37 10 75138676 75138676 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004034.2 -1 reviewed p.R446Q 0.998 56 0% 47 40.4% 141 48.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 USP54 159195 genome.wustl.edu 37 10 75294498 75294498 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152586.3 -1 provisional p.R392Q 1.000 188 0% 112 30.4% 5 0% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL SYNPO2L 79933 genome.wustl.edu 37 10 75412939 75412939 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114133.1 -1 validated p.E244* 1.000 49 0% 122 34.4% 0 - - - - NULL NDST2 8509 genome.wustl.edu 37 10 75568143 75568143 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003635.3 -1 reviewed p.L2I 1.000 30 0% 52 15.4% 13 15.3% benign(0.002) tolerated(0.16) neutral(0.059) NULL PLAU 5328 genome.wustl.edu 37 10 75676300 75676300 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002658.3 +1 reviewed p.E425K 0.003 44 0% 40 42.5% 37 2.7% benign(0.016) tolerated(0.14) neutral(0.250) superfamily_Trypsin-like serine proteases AP3M1 26985 genome.wustl.edu 37 10 75898125 75898125 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012095.4 -1 reviewed p.L5 1.000 90 0% 106 22.6% 21 61.9% - - - HMMPfam_Clat_adaptor_s,superfamily_SNARE-like KAT6B 23522 genome.wustl.edu 37 10 76789287 76789287 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012330.2 +1 validated p.C1569G 1.000 80 0% 54 27.8% 33 42.4% probably_damaging(0.99) - - NULL KCNMA1 3778 genome.wustl.edu 37 10 78944643 78944643 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001014797.2 -1 reviewed p.D212Y 1.000 172 0% 90 27.8% 1 0% probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_Voltage-gated potassium channels KCNMA1 3778 genome.wustl.edu 37 10 79011012 79011012 + Silent SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000372403 -1 known p.L132* 0.997 130 0% 72 27.8% 0 - - - - superfamily_Voltage-gated potassium channels DLG5 9231 genome.wustl.edu 37 10 79555860 79555860 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004747.3 -1 reviewed p.D1799N 1.000 65 0% 97 33% 63 41.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases POLR3A 11128 genome.wustl.edu 37 10 79769648 79769648 + Missense_Mutation SNP G G A rs187245012 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007055.3 -1 validated p.R582C 1.000 94 0% 69 29% 12 66.6% possibly_damaging(0.812) deleterious(0) deleterious(0.750) HMMPfam_RNA_pol_Rpb1_3,superfamily_SSF64484 SFTPA2 729238 genome.wustl.edu 37 10 81317048 81317048 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098668.2 -1 reviewed p.E222* 0.359 192 0% 116 23.3% 1 0% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like C10orf57 80195 genome.wustl.edu 37 10 81850610 81850610 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025125.2 +1 provisional p.F103L 0.997 196 0% 111 27% 31 38.7% benign(0) tolerated(1) - NULL SH2D4B 387694 genome.wustl.edu 37 10 82403797 82403797 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207372.2 +1 validated p.R345Q 1.000 133 0% 53 28.3% 0 - benign(0.001) tolerated(0.43) neutral(0.013) NULL NRG3 10718 genome.wustl.edu 37 10 84498384 84498384 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010848.3 +1 reviewed p.T335 0.563 138 0% 88 22.7% 0 - - - - superfamily_SSF57196 NRG3 10718 genome.wustl.edu 37 10 84625184 84625184 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010848.3 +1 reviewed p.E349K 1.000 214 0% 141 34% 0 - benign(0.009) tolerated(0.06) neutral(0.323) NULL NRG3 10718 genome.wustl.edu 37 10 84745346 84745346 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010848.3 +1 reviewed p.S692 0.663 21 0% 14 35.7% 0 - - - - NULL CDHR1 92211 genome.wustl.edu 37 10 85964338 85964338 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033100.2 +1 reviewed p.R280Q 0.003 79 0% 91 24.2% 1 0% benign(0) tolerated(0.58) neutral(0.005) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like LRIT2 340745 genome.wustl.edu 37 10 85981707 85981707 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017924.2 -1 validated p.K541T 0.000 32 0% 44 11.4% 0 - benign(0.071) tolerated(0.28) neutral(0.036) NULL LRIT2 340745 genome.wustl.edu 37 10 85984098 85984098 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017924.2 -1 validated p.E295* 1.000 58 0% 42 11.9% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 LRIT1 26103 genome.wustl.edu 37 10 85991885 85991885 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015613.2 -1 validated p.R557Q 0.991 61 0% 104 30.8% 0 - benign(0.123) tolerated(0.34) neutral(0.033) NULL RGR 5995 genome.wustl.edu 37 10 86018295 86018295 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002921.3 +1 reviewed p.T263M 0.408 61 0% 39 28.2% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_7tm_1,PatternScan_OPSIN,superfamily_Family A G protein-coupled receptor-like FAM190B 54462 genome.wustl.edu 37 10 86131944 86131944 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018999.2 +1 validated p.Q379P 0.972 102 0% 74 37.8% 14 35.7% possibly_damaging(0.718) tolerated(0.12) deleterious(0.520) NULL WAPAL 23063 genome.wustl.edu 37 10 88260094 88260094 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015045.2 -1 validated p.T302 0.800 151 0% 64 34.4% 21 57.1% - - - NULL LDB3 11155 genome.wustl.edu 37 10 88477764 88477764 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007078.2 +1 reviewed p.E574* 1.000 124 0% 170 34.1% 0 - - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) SNCG 6623 genome.wustl.edu 37 10 88718513 88718513 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003087.2 +1 reviewed p.E20G 1.000 106 0% 142 33.1% 1 100% possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_Synuclein PAPSS2 9060 genome.wustl.edu 37 10 89505621 89505621 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001015880.1 +1 reviewed p.R585Q 0.954 78 0% 33 30.3% 1 0% possibly_damaging(0.886) tolerated(0.15) deleterious(0.587) HMMPfam_ATP-sulfurylase,superfamily_SSF52374 PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000371953 +1 known p.R130Q 1.000 161 0.6% 80 23.7% 76 34.2% 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 89717619 89717619 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000371953 +1 known p.F215S 1.000 96 1% 58 32.8% 72 40.2% possibly_damaging(0.9) deleterious(0.01) deleterious(0.762) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PTEN 5728 genome.wustl.edu 37 10 89720749 89720749 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000371953 +1 known p.I300 1.000 107 0% 49 22.4% 42 4.7% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 RNLS 55328 genome.wustl.edu 37 10 90342837 90342837 + Missense_Mutation SNP C C A rs2296545 byCluster;byFrequency;bySubmitter;by2Hit2Allele;byHapMap;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031709.2 -1 validated p.E37D 0.815 16 0% 69 36.2% 1 0% benign(0.004) tolerated(0.14) neutral(0.249) superfamily_FAD/NAD(P)-binding domain LIPF 8513 genome.wustl.edu 37 10 90427054 90427054 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000394375 +1 known p.K10N 0.997 223 0% 108 30.6% 0 - possibly_damaging(0.707) tolerated(0.36) neutral(0.275) NULL LIPN 643418 genome.wustl.edu 37 10 90534898 90534898 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102469.1 +1 validated p.D314G 0.103 118 0% 38 10.5% 0 - benign(0) tolerated(0.29) neutral(0.029) HMMPfam_Abhydrolase_1,superfamily_SSF53474 LIPM 340654 genome.wustl.edu 37 10 90575218 90575218 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128215.1 +1 validated p.I272 0.984 193 0% 154 26% 0 - - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 ACTA2 59 genome.wustl.edu 37 10 90700995 90700995 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001141945.1 -1 reviewed p.V203I 1.000 94 0% 47 36.2% 198 3% benign(0) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain IFIT2 3433 genome.wustl.edu 37 10 91066510 91066510 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001547.4 +1 validated p.A266V 0.520 80 0% 41 26.8% 6 16.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 IFIT1B 439996 genome.wustl.edu 37 10 91144177 91144177 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010987.2 +1 validated p.M369I 0.000 59 0% 41 29.3% 0 - benign(0.009) tolerated(0.25) neutral(0.037) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like IFIT1 3434 genome.wustl.edu 37 10 91162817 91162817 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001548.3 +1 validated p.R262Q 0.930 43 0% 32 50% 17 47% benign(0.25) tolerated(0.13) neutral(0.278) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like IFIT1 3434 genome.wustl.edu 37 10 91162858 91162858 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001548.3 +1 validated p.K276Q 0.000 47 0% 29 48.3% 17 47% benign(0.103) tolerated(0.07) neutral(0.327) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like SLC16A12 387700 genome.wustl.edu 37 10 91196037 91196037 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_213606.3 -1 validated p.A326 0.008 97 0% 47 36.2% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC16A12 387700 genome.wustl.edu 37 10 91198650 91198650 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_213606.3 -1 validated p.E217* 0.042 99 0% 54 37% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter KIF20B 9585 genome.wustl.edu 37 10 91469201 91469201 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016195.2 +1 validated p.K112Q 1.000 116 0% 79 26.6% 2 50% benign(0.004) tolerated(0.14) neutral(0.249) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF20B 9585 genome.wustl.edu 37 10 91470858 91470858 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016195.2 +1 validated p.E211* 1.000 72 0% 57 14% 1 0% - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF20B 9585 genome.wustl.edu 37 10 91476235 91476235 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016195.2 +1 validated p.R328I 0.997 71 0% 37 35.1% 5 60% possibly_damaging(0.586) deleterious(0.02) deleterious(0.585) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF20B 9585 genome.wustl.edu 37 10 91488915 91488915 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016195.2 +1 validated p.E728* 0.996 33 0% 33 27.3% 0 - - - - NULL HECTD2 143279 genome.wustl.edu 37 10 93251014 93251014 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182765.3 +1 validated p.L417I 1.000 62 0% 53 26.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HECT BTAF1 9044 genome.wustl.edu 37 10 93713614 93713614 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003972.2 +1 validated p.E229* 1.000 181 0% 128 28.1% 9 22.2% - - - superfamily_ARM repeat CPEB3 22849 genome.wustl.edu 37 10 93841238 93841238 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014912.4 -1 validated p.D570N 1.000 77 0% 55 21.8% 2 0% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMSmart_SM00360,superfamily_RNA-binding domain RBD IDE 3416 genome.wustl.edu 37 10 94223528 94223528 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004969.3 -1 reviewed p.Y907 0.993 221 0% 117 36.8% 16 18.7% - - - superfamily_Metalloenz_metal-bd KIF11 3832 genome.wustl.edu 37 10 94369185 94369185 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004523.3 +1 reviewed p.N206S 1.000 118 0% 125 18.4% 11 63.6% possibly_damaging(0.443) deleterious(0.02) deleterious(0.527) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 EXOC6 54536 genome.wustl.edu 37 10 94694070 94694070 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019053.4 +1 reviewed p.F341L 1.000 88 0% 55 45.5% 9 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CYP26C1 340665 genome.wustl.edu 37 10 94821197 94821197 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183374.2 +1 reviewed p.F59 1.000 19 0% 33 36.4% 0 - - - - superfamily_Cytochrome_P450 CYP26A1 1592 genome.wustl.edu 37 10 94835035 94835035 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000783.3 +1 reviewed p.W279R 0.498 41 0% 82 23.2% 2 50% benign(0) tolerated(0.85) neutral(0.001) HMMPfam_p450,superfamily_Cytochrome_P450 CYP26A1 1592 genome.wustl.edu 37 10 94835711 94835711 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000783.3 +1 reviewed p.K331N 0.976 80 0% 178 27.5% 0 - benign(0.056) tolerated(0.18) neutral(0.060) HMMPfam_p450,superfamily_Cytochrome_P450 MYOF 26509 genome.wustl.edu 37 10 95095750 95095750 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013451.3 -1 reviewed p.F1497L 1.000 213 0% 255 31.8% 29 51.7% probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL PDE6C 5146 genome.wustl.edu 37 10 95422806 95422806 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006204.3 +1 reviewed p.E797* 1.000 108 0% 38 31.6% 0 - - - - HMMPfam_PDEase_I,superfamily_SSF109604 FRA10AC1 118924 genome.wustl.edu 37 10 95445023 95445023 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145246.4 -1 reviewed p.R202I 1.000 249 0% 86 31.4% 12 33.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Fra10Ac1 PLCE1 51196 genome.wustl.edu 37 10 95791750 95791750 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016341.3 +1 reviewed p.K316T 0.987 107 0% 62 45.2% 1 100% possibly_damaging(0.856) deleterious(0) deleterious(0.775) superfamily_Ras GEF PLCE1 51196 genome.wustl.edu 37 10 96022428 96022428 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016341.3 +1 reviewed p.D1331A 1.000 161 0% 64 17.2% 9 22.2% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_efhand_like,superfamily_EF-hand CYP2C18 1562 genome.wustl.edu 37 10 96447945 96447945 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000772.2 +1 reviewed p.R132Q 0.987 300 0.3% 162 24.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_p450,superfamily_Cytochrome P450 C10orf129 142827 genome.wustl.edu 37 10 96967018 96967018 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207321.2 +1 validated p.Q153K 0.003 110 0% 46 39.1% 0 - benign(0.202) deleterious(0.01) neutral(0.425) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like PDLIM1 9124 genome.wustl.edu 37 10 96998374 96998374 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020992.2 -1 provisional p.G252R 1.000 146 0% 134 34.3% 290 22.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PDLIM1 9124 genome.wustl.edu 37 10 97007027 97007027 + Silent SNP C C T rs141682059 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020992.2 -1 provisional p.P210 0.000 123 0% 91 27.5% 183 21.8% - - - NULL TLL2 7093 genome.wustl.edu 37 10 98146750 98146750 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012465.3 -1 validated p.D604 0.949 62 1.6% 71 28.2% 0 - - - - HMMSmart_EGF_CA,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_SSF57196 TM9SF3 56889 genome.wustl.edu 37 10 98336399 98336399 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020123.3 -1 validated p.K97T 1.000 137 0% 170 37.6% 27 51.8% benign(0.012) tolerated(0.27) neutral(0.034) HMMPfam_EMP70 PIK3AP1 118788 genome.wustl.edu 37 10 98386571 98386571 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152309.2 -1 validated p.A521 0.943 125 0% 63 9.5% 4 0% - - - NULL C10orf12 26148 genome.wustl.edu 37 10 98741244 98741244 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015652.2 +1 predicted p.L33V 1.000 116 0% 76 27.6% 1 100% benign(0.009) tolerated(0.43) neutral(0.014) NULL RRP12 23223 genome.wustl.edu 37 10 99131877 99131877 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015179.3 -1 validated p.E766K 1.000 59 0% 101 41.6% 42 38% probably_damaging(0.99) tolerated(0.63) neutral(0.445) superfamily_ARM repeat ZDHHC16 84287 genome.wustl.edu 37 10 99215505 99215507 + In_Frame_Del DEL AAG AAG - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032327.2 +1 validated p.K306in_frame_del 1.000:0.988:0.995 - - - - - - - - - NULL SFRP5 6425 genome.wustl.edu 37 10 99527516 99527516 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003015.3 -1 reviewed p.R237C 1.000 112 0% 192 12.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C C10orf28 27291 genome.wustl.edu 37 10 99968142 99968142 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014472.4 +1 validated p.K91E 0.966 67 0% 48 22.9% 4 75% possibly_damaging(0.896) deleterious(0.03) deleterious(0.718) NULL HPSE2 60495 genome.wustl.edu 37 10 100503736 100503736 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021828.4 -1 reviewed p.R230C 1.000 139 0% 75 32% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_79n HPSE2 60495 genome.wustl.edu 37 10 100995356 100995356 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021828.4 -1 reviewed p.K68N 1.000 150 0% 226 31% 1 100% possibly_damaging(0.922) tolerated(0.05) deleterious(0.717) NULL SLC25A28 81894 genome.wustl.edu 37 10 101371024 101371024 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031212.3 -1 validated p.R226H 1.000 86 0% 91 30.8% 66 48.4% probably_damaging(1) tolerated(0.23) deleterious(0.541) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ABCC2 1244 genome.wustl.edu 37 10 101559098 101559098 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000392.3 +1 reviewed p.I334 0.012 158 0% 84 29.8% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC2 1244 genome.wustl.edu 37 10 101569957 101569957 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000392.3 +1 reviewed p.R628* 1.000 107 0% 39 15.4% 0 - - - - NULL DNMBP 23268 genome.wustl.edu 37 10 101668726 101668726 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015221.2 -1 validated p.P813L 1.000 148 0% 76 48.7% 8 12.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ERLIN1 10613 genome.wustl.edu 37 10 101915948 101915948 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100626.1 -1 validated p.Q233H 1.000 204 0% 194 37.1% 9 0% probably_damaging(0.972) deleterious(0) deleterious(0.859) NULL ERLIN1 10613 genome.wustl.edu 37 10 101927120 101927120 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100626.1 -1 validated p.R183I 1.000 298 0% 128 22.7% 9 0% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_Band_7,HMMSmart_SM00244 CHUK 1147 genome.wustl.edu 37 10 101979080 101979080 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001278.3 -1 reviewed p.D171Y 1.000 138 0% 196 29.6% 9 33.3% probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CWF19L1 55280 genome.wustl.edu 37 10 102005629 102005629 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018294.4 -1 validated p.K297N 1.000 171 0% 107 27.1% 17 41.1% benign(0.042) tolerated(0.4) neutral(0.018) NULL HIF1AN 55662 genome.wustl.edu 37 10 102304802 102304802 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017902.2 +1 validated p.F224 1.000 75 0% 108 38% 42 42.8% - - - HMMSmart_JmjC,superfamily_SSF51197 SEMA4G 57715 genome.wustl.edu 37 10 102740947 102740947 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017893.2 +1 reviewed p.E556* 1.000 83 0% 183 32.2% 9 33.3% - - - HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold LZTS2 84445 genome.wustl.edu 37 10 102763510 102763510 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032429.1 +1 provisional p.D219N 1.000 15 0% 27 29.6% 104 48% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL BTRC 8945 genome.wustl.edu 37 10 103292062 103292062 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033637.2 +1 reviewed p.S284Y 1.000 96 0% 218 27.1% 12 41.6% benign(0.309) deleterious(0.01) deleterious(0.502) superfamily_F-box domain BTRC 8945 genome.wustl.edu 37 10 103292745 103292745 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033637.2 +1 reviewed p.L339F 1.000 99 0% 201 29.9% 17 41.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HPS6 79803 genome.wustl.edu 37 10 103826224 103826224 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024747.4 +1 reviewed p.T331 0.000 35 0% 80 26.3% 16 43.7% - - - NULL HPS6 79803 genome.wustl.edu 37 10 103827231 103827231 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024747.4 +1 reviewed p.R667Q 0.998 66 0% 104 28.8% 29 41.3% benign(0.071) tolerated(0.39) neutral(0.021) NULL NOLC1 9221 genome.wustl.edu 37 10 103920264 103920264 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004741.3 +1 validated p.K385N 0.627 61 0% 41 56.1% 97 34% unknown(0) deleterious(0.02) - NULL AS3MT 57412 genome.wustl.edu 37 10 104636765 104636765 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000369880 +1 known p.E195* 0.993 276 0% 280 34.6% 8 12.5% - - - superfamily_SSF53335 CNNM2 54805 genome.wustl.edu 37 10 104809562 104809562 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017649.3 +1 validated p.E574* 1.000 169 0% 130 27.7% 1 0% - - - HMMPfam_CBS TAF5 6877 genome.wustl.edu 37 10 105143015 105143015 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006951.3 +1 reviewed p.E519* 1.000 102 0% 75 36% 4 25% - - - superfamily_WD40 repeat-like PDCD11 22984 genome.wustl.edu 37 10 105165860 105165860 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014976.1 +1 validated p.N228S 1.000 45 0% 57 35.1% 14 71.4% benign(0.014) tolerated(0.42) neutral(0.015) superfamily_Nucleic_acid_OB,HMMSmart_S1 PDCD11 22984 genome.wustl.edu 37 10 105187117 105187117 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014976.1 +1 validated p.R1113* 0.785 115 0% 80 30% 26 11.5% - - - superfamily_Nucleic_acid_OB CALHM1 255022 genome.wustl.edu 37 10 105218079 105218079 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001412.3 -1 reviewed p.A144T 0.460 10 0% 19 47.4% 0 - benign(0) tolerated(0.78) neutral(0.001) NULL SH3PXD2A 9644 genome.wustl.edu 37 10 105484112 105484112 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014631.2 -1 validated p.V105A 0.996 32 0% 44 50% 1 0% possibly_damaging(0.917) deleterious(0.01) deleterious(0.774) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain SLK 9748 genome.wustl.edu 37 10 105750505 105750505 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014720.2 +1 provisional p.D75Y 1.000 169 0% 95 25.3% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase COL17A1 1308 genome.wustl.edu 37 10 105795035 105795035 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000494.3 -1 reviewed p.S1202L 0.947 46 0% 53 37.7% 1 0% unknown(0) tolerated(0.14) - NULL WDR96 80217 genome.wustl.edu 37 10 105923958 105923958 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025145.5 -1 provisional p.R1047Q 0.877 213 0% 96 33.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_WD40 repeat-like WDR96 80217 genome.wustl.edu 37 10 105971860 105971860 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025145.5 -1 provisional p.F214V 0.782 56 0% 54 25.9% 0 - probably_damaging(0.999) tolerated(0.48) deleterious(0.501) NULL CCDC147 159686 genome.wustl.edu 37 10 106130713 106130713 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008723.1 +1 validated p.E331* 1.000 113 0% 45 22.2% 0 - - - - NULL SORCS3 22986 genome.wustl.edu 37 10 106865184 106865184 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014978.1 +1 reviewed p.E375K 1.000 110 0% 57 40.4% 0 - benign(0.008) tolerated(0.41) neutral(0.015) HMMSmart_VPS10,superfamily_SSF110296 SORCS3 22986 genome.wustl.edu 37 10 106959828 106959828 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014978.1 +1 reviewed p.R694Q 1.000 78 0% 35 28.6% 0 - probably_damaging(0.972) tolerated(0.22) neutral(0.456) HMMSmart_VPS10,superfamily_SSF110296 SORCS1 114815 genome.wustl.edu 37 10 108357121 108357121 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013031.1 -1 reviewed p.H1085N 1.000 140 0% 52 34.6% 0 - benign(0.365) tolerated(0.1) neutral(0.402) NULL SORCS1 114815 genome.wustl.edu 37 10 108437080 108437080 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013031.1 -1 reviewed p.R608Q 1.000 160 0% 50 38% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_VPS10,superfamily_SSF110296 XPNPEP1 7511 genome.wustl.edu 37 10 111674830 111674830 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000502935 -1 known p.R20S 0.987 193 0% 161 29.8% 48 37.5% benign(0.343) deleterious(0) deleterious(0.552) NULL DUSP5 1847 genome.wustl.edu 37 10 112262489 112262489 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004419.3 +1 reviewed p.E130D 1.000 84 0% 156 32.1% 5 0% benign(0.254) tolerated(0.28) neutral(0.057) HMMSmart_RHOD,superfamily_Rhodanese-like SMC3 9126 genome.wustl.edu 37 10 112344107 112344107 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005445.3 +1 reviewed p.L420V 1.000 102 0% 78 30.8% 23 39.1% probably_damaging(0.978) deleterious(0.03) deleterious(0.785) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC3 9126 genome.wustl.edu 37 10 112360222 112360222 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005445.3 +1 reviewed p.R818I 1.000 71 0% 50 34% 17 52.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SHOC2 8036 genome.wustl.edu 37 10 112724715 112724715 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007373.3 +1 reviewed p.R200H 1.000 76 0% 33 24.2% 18 38.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like GPAM 57678 genome.wustl.edu 37 10 113933573 113933573 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020918.4 -1 validated p.A148 0.185 121 0% 93 24.7% 3 100% - - - NULL GPAM 57678 genome.wustl.edu 37 10 113935437 113935437 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020918.4 -1 validated p.V112I 0.736 105 0% 133 30.1% 4 0% benign(0) tolerated(0.28) neutral(0.032) NULL ZDHHC6 64429 genome.wustl.edu 37 10 114192192 114192192 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022494.1 -1 provisional p.E345K 1.000 236 0% 196 32.7% 52 46.1% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_SH3_2 DCLRE1A 9937 genome.wustl.edu 37 10 115612923 115612923 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014881.3 -1 provisional p.E7K 1.000 90 0% 118 35.6% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL NHLRC2 374354 genome.wustl.edu 37 10 115639353 115639353 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198514.2 +1 provisional p.D270Y 1.000 68 0% 20 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NHL repeat C10orf118 55088 genome.wustl.edu 37 10 115887398 115887398 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018017.2 -1 validated p.R739* 1.000 168 0% 84 32.1% 10 30% - - - NULL TDRD1 56165 genome.wustl.edu 37 10 115963932 115963932 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198795.1 +1 reviewed p.R361I 0.974 116 0% 68 29.4% 0 - possibly_damaging(0.931) tolerated(0.45) neutral(0.390) HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 TDRD1 56165 genome.wustl.edu 37 10 115964631 115964631 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198795.1 +1 reviewed p.E426* 0.471 137 0% 47 38.3% 0 - - - - NULL VWA2 340706 genome.wustl.edu 37 10 116048761 116048761 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198496.1 +1 provisional p.E545D 1.000 50 0% 49 26.5% 27 25.9% benign(0.004) tolerated(0.52) neutral(0.009) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 AFAP1L2 84632 genome.wustl.edu 37 10 116061185 116061185 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001936.1 -1 validated p.I490 0.661 115 0% 179 35.2% 4 0% - - - NULL ABLIM1 3983 genome.wustl.edu 37 10 116233716 116233716 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002313.5 -1 reviewed e9-1 1.000 115 0% 71 38% 0 - - - - - ATRNL1 26033 genome.wustl.edu 37 10 116975620 116975620 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207303.2 +1 validated p.E505G 1.000 96 0% 39 35.9% 0 - benign(0.046) tolerated(0.08) neutral(0.302) superfamily_Galactose oxidase central domain ATRNL1 26033 genome.wustl.edu 37 10 117045863 117045863 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207303.2 +1 validated p.E791* 1.000 145 0% 84 38.1% 0 - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ATRNL1 26033 genome.wustl.edu 37 10 117075103 117075103 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207303.2 +1 validated p.S965I 1.000 97 0% 60 40% 0 - benign(0.302) deleterious(0) deleterious(0.538) HMMPfam_PSI,HMMSmart_SM00423 PNLIP 5406 genome.wustl.edu 37 10 118307930 118307930 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000936.2 +1 reviewed p.T87I 1.000 158 0% 106 21.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIPRP2 5408 genome.wustl.edu 37 10 118385530 118385530 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005396.4 +1 validated p.S94P 1.000 87 0% 171 21.1% 0 - benign(0.039) tolerated(0.06) neutral(0.325) NULL PNLIPRP2 5408 genome.wustl.edu 37 10 118389501 118389501 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000433618 +1 known p.R209W 0.999 76 0% 171 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases C10orf82 143379 genome.wustl.edu 37 10 118424298 118424298 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144661.2 -1 predicted p.K145N 0.004 108 0% 117 25.6% 1 0% possibly_damaging(0.739) deleterious(0.03) deleterious(0.635) NULL HSPA12A 259217 genome.wustl.edu 37 10 118439235 118439235 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025015.2 -1 validated p.F355 1.000 101 0% 105 25.7% 4 50% - - - superfamily_SSF53067 KCNK18 338567 genome.wustl.edu 37 10 118969585 118969585 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181840.1 +1 provisional p.F310 0.293 297 0% 303 33.3% 0 - - - - HMMPfam_Ion_trans_2,superfamily_SSF81324 FAM204A 63877 genome.wustl.edu 37 10 120094924 120094924 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134672.1 -1 validated p.E113* 1.000 118 0% 81 29.6% 16 6.2% - - - NULL PRDX3 10935 genome.wustl.edu 37 10 120933335 120933335 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006793.2 -1 reviewed p.E121K 1.000 74 0% 162 30.2% 203 37.4% benign(0.184) tolerated(0.05) neutral(0.362) HMMPfam_AhpC-TSA,superfamily_Thiordxn-like_fd TIAL1 7073 genome.wustl.edu 37 10 121336585 121336585 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000369092 -1 known p.R251* 0.126 97 0% 51 43.1% 5 20% - - - NULL INPP5F 22876 genome.wustl.edu 37 10 121581953 121581953 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014937.2 +1 reviewed p.E657K 1.000 173 0% 298 30.2% 4 25% probably_damaging(1) tolerated(0.2) deleterious(0.549) NULL SEC23IP 11196 genome.wustl.edu 37 10 121674317 121674317 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007190.2 +1 reviewed p.S463N 1.000 451 0% 355 31% 25 40% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL WDR11 55717 genome.wustl.edu 37 10 122622323 122622323 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018117.11 +1 reviewed p.V201 0.194 121 0% 159 31.4% 9 88.8% - - - superfamily_WD40_like WDR11 55717 genome.wustl.edu 37 10 122649475 122649475 + Nonsense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018117.11 +1 reviewed p.L766* 0.996 121 0% 59 25.4% 17 58.8% - - - HMMSmart_WD40,superfamily_WD40_like TACC2 10579 genome.wustl.edu 37 10 123843219 123843219 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206862.2 +1 reviewed p.P402S 0.000 32 0% 29 44.8% 3 33.3% benign(0) tolerated(0.07) neutral(0.319) NULL BTBD16 118663 genome.wustl.edu 37 10 124091965 124091965 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144587.2 +1 validated p.G367 0.257 111 0% 112 12.5% 0 - - - - NULL DMBT1 1755 genome.wustl.edu 37 10 124354011 124354011 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007329.2 +1 reviewed e22-1 0.001 506 0.2% 270 26.3% 0 - - - - - DMBT1 1755 genome.wustl.edu 37 10 124361370 124361370 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007329.2 +1 reviewed p.R1134Q 0.906 106 0% 75 33.3% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like DMBT1 1755 genome.wustl.edu 37 10 124392403 124392403 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007329.2 +1 reviewed p.N2003H 0.000 219 0% 168 28% 0 - possibly_damaging(0.506) tolerated(0.52) neutral(0.178) superfamily_Spermadhesin CUB domain CUZD1 50624 genome.wustl.edu 37 10 124595731 124595731 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022034.4 -1 provisional p.F318C 0.989 281 0% 148 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Zona_pellucida,HMMSmart_SM00241 CUZD1 50624 genome.wustl.edu 37 10 124605317 124605317 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022034.4 -1 provisional p.L15I 0.000 138 0% 68 27.9% 0 - benign(0.041) tolerated(0.12) neutral(0.263) NULL FAM24B 196792 genome.wustl.edu 37 10 124610024 124610024 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152644.2 -1 validated p.V3A 0.032 114 0% 74 37.8% 2 0% unknown(0) deleterious(0) - NULL CPXM2 119587 genome.wustl.edu 37 10 125516831 125516831 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198148.2 -1 validated p.F605 0.992 122 0% 144 27.8% 3 0% - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CPXM2 119587 genome.wustl.edu 37 10 125521574 125521574 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198148.2 -1 validated p.R531W 0.971 44 0% 58 31% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases OAT 4942 genome.wustl.edu 37 10 126097379 126097379 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000274.3 -1 reviewed p.V119I 1.000 124 0% 133 48.9% 29 34.4% benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major FAM175B 23172 genome.wustl.edu 37 10 126517980 126517980 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032182.3 +1 validated p.K199N 1.000 323 0% 132 25% 9 11.1% probably_damaging(1) tolerated(0.21) deleterious(0.544) NULL ZRANB1 54764 genome.wustl.edu 37 10 126631481 126631481 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017580.2 +1 validated p.Y140C 1.000 142 0% 74 35.1% 16 43.7% probably_damaging(0.967) tolerated(0.13) deleterious(0.661) superfamily_SSF90209 C10orf122 387718 genome.wustl.edu 37 10 127344705 127344705 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128202.1 -1 validated p.L109I 0.999 196 0% 68 29.4% 0 - probably_damaging(0.981) tolerated(0.21) deleterious(0.469) NULL C10orf137 26098 genome.wustl.edu 37 10 127417936 127417936 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015608.2 +1 validated p.N268H 1.000 170 0% 124 41.1% 11 45.4% probably_damaging(0.986) tolerated(0.21) deleterious(0.478) NULL ADAM12 8038 genome.wustl.edu 37 10 127760213 127760213 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003474.4 -1 reviewed p.P389T 1.000 70 0% 43 46.5% 9 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" C10orf90 118611 genome.wustl.edu 37 10 128150020 128150020 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004298.2 -1 validated p.E557K 0.048 165 0% 107 40.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C10orf90 118611 genome.wustl.edu 37 10 128202508 128202508 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004298.2 -1 validated p.G8V 0.993 257 0% 206 29.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DOCK1 1793 genome.wustl.edu 37 10 129172083 129172083 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000398025 +1 known p.V1202 1.000 270 0% 185 28.6% 24 37.5% - - - NULL DOCK1 1793 genome.wustl.edu 37 10 129224264 129224264 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000398025 +1 known p.V1680I 0.800 68 0% 97 34% 26 46.1% benign(0.001) tolerated(0.42) neutral(0.014) NULL MKI67 4288 genome.wustl.edu 37 10 129901217 129901217 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002417.4 -1 reviewed p.L2963I 0.000 132 0% 70 30% 28 46.4% benign(0.001) deleterious(0) neutral(0.445) NULL MKI67 4288 genome.wustl.edu 37 10 129903332 129903332 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002417.4 -1 reviewed p.R2258* 0.000 397 0% 290 37.9% 53 33.9% - - - HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129904042 129904042 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002417.4 -1 reviewed p.T2021M 0.000 348 0.3% 228 28.1% 40 65% probably_damaging(0.983) tolerated(0.15) deleterious(0.670) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129906132 129906132 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002417.4 -1 reviewed p.E1324D 0.000 291 0% 184 31% 6 50% benign(0.006) tolerated(0.74) neutral(0.002) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129910580 129910580 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002417.4 -1 reviewed p.R596C 0.012 101 0% 97 37.1% 15 53.3% benign(0.068) tolerated(0.16) neutral(0.064) NULL MKI67 4288 genome.wustl.edu 37 10 129913602 129913602 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002417.4 -1 reviewed p.S357Y 0.001 101 0% 97 29.9% 7 28.5% probably_damaging(0.965) tolerated(0.09) deleterious(0.704) NULL GLRX3 10539 genome.wustl.edu 37 10 131943557 131943557 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006541.3 +1 provisional p.E59* 0.993 150 0% 159 30.8% 40 25% - - - superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin GLRX3 10539 genome.wustl.edu 37 10 131958099 131958099 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000486974 +1 known NULL 1.000 51 0% 26 38.5% 0 - - - - - TCERG1L 256536 genome.wustl.edu 37 10 132891531 132891531 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174937.3 -1 validated p.R552Q 0.954 194 0% 406 34.7% 0 - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_FF,HMMSmart_FF,superfamily_FF DPYSL4 10570 genome.wustl.edu 37 10 134008496 134008496 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006426.2 +1 validated p.A154V 1.000 33 0% 54 33.3% 13 92.3% possibly_damaging(0.44) tolerated(0.44) neutral(0.156) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases DPYSL4 10570 genome.wustl.edu 37 10 134016167 134016167 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006426.2 +1 validated p.I433 0.132 46 0% 108 24.1% 4 0% - - - superfamily_Composite domain of metallo-dependent hydrolases LRRC27 80313 genome.wustl.edu 37 10 134175022 134175022 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143757.1 +1 validated p.P411L 0.004 87 0% 197 40.1% 5 100% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL C10orf91 170393 genome.wustl.edu 37 10 134261464 134261464 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173541.2 +1 validated p.D113Y 0.001 64 0% 101 27.7% 1 0% possibly_damaging(0.479) - - NULL TTC40 54777 genome.wustl.edu 37 10 134659620 134659620 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000368586 -1 known p.D2127Y 0.004 30 0% 51 29.4% 0 - possibly_damaging(0.828) deleterious(0.02) deleterious(0.697) NULL TTC40 54777 genome.wustl.edu 37 10 134750467 134750467 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173572.3 -1 validated p.K251N 0.291 183 0% 310 33.5% 0 - probably_damaging(0.991) tolerated(0.12) deleterious(0.705) NULL TTC40 54777 genome.wustl.edu 37 10 134751063 134751063 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173572.3 -1 validated p.S218Y 0.718 77 0% 170 29.4% 0 - probably_damaging(0.961) deleterious(0.02) deleterious(0.787) NULL VENTX 27287 genome.wustl.edu 37 10 135053551 135053551 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014468.2 +1 reviewed p.S173Y 0.002 43 0% 79 39.2% 0 - possibly_damaging(0.926) tolerated(0.11) deleterious(0.646) NULL MIR202 574448 genome.wustl.edu 37 10 135061080 135061080 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000362219 -1 known NULL 1.000 71 0% 148 29.1% 0 - - - - - TUBGCP2 10844 genome.wustl.edu 37 10 135103348 135103348 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006659.2 -1 validated p.A447V 1.000 104 0% 181 30.4% 82 53.6% benign(0.334) deleterious(0.01) deleterious(0.511) HMMPfam_Spc97_Spc98 TUBGCP2 10844 genome.wustl.edu 37 10 135116412 135116412 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006659.2 -1 validated p.E12* 1.000 124 0% 262 39.7% 23 30.4% - - - NULL PAOX 196743 genome.wustl.edu 37 10 135193714 135193714 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152911.2 +1 validated p.A131 0.019 19 0% 41 29.3% 8 37.5% - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain SYCE1 93426 genome.wustl.edu 37 10 135372812 135372812 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143764.1 -1 validated p.V63 0.976 96 0% 97 30.9% 0 - - - - NULL PHRF1 57661 genome.wustl.edu 37 11 607474 607474 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020901.2 +1 validated p.R672I 0.814 52 0% 62 33.9% 33 57.5% benign(0.278) deleterious(0) deleterious(0.475) NULL IRF7 3665 genome.wustl.edu 37 11 612681 612681 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004031.2 -1 reviewed p.I505 0.000 55 0% 125 36.8% 50 24% - - - NULL SLC25A22 79751 genome.wustl.edu 37 11 792318 792318 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024698.4 -1 provisional p.V243A 0.998 26 0% 36 38.9% 55 50.9% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_Mitoch_carrier,HMMPfam_Mito_carr AP2A2 161 genome.wustl.edu 37 11 988681 988681 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012305.2 +1 validated p.E421K 1.000 49 0% 106 39.6% 123 42.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Adaptin_N,superfamily_ARM repeat MUC6 4588 genome.wustl.edu 37 11 1017672 1017672 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005961.2 -1 validated p.S1710F 0.000 1795 0% 2993 8.7% 66 12.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL MUC6 4588 genome.wustl.edu 37 11 1025030 1025030 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005961.2 -1 validated p.F1013 0.102 58 0% 92 37% 3 66.6% - - - HMMPfam_VWD,HMMSmart_SM00216 MUC6 4588 genome.wustl.edu 37 11 1026030 1026030 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005961.2 -1 validated p.F886 0.669 51 0% 100 36% 5 60% - - - HMMPfam_VWD,HMMSmart_SM00216,HMMSmart_SM00215 MUC6 4588 genome.wustl.edu 37 11 1028678 1028678 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005961.2 -1 validated p.T520N 0.348 31 0% 68 10.3% 2 50% unknown(0) tolerated(0.11) - HMMPfam_VWD,HMMSmart_SM00216 MUC6 4588 genome.wustl.edu 37 11 1031887 1031887 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005961.2 -1 validated p.I94 0.156 43 0% 84 32.1% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 MUC5B 727897 genome.wustl.edu 37 11 1255046 1255046 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002458.1 +1 validated p.S785I 0.988 33 0% 58 22.4% 1 100% benign(0.018) - - HMMSmart_SM00214 MUC5B 727897 genome.wustl.edu 37 11 1255863 1255863 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002458.1 +1 validated p.E864D 0.624 43 0% 61 31.1% 0 - benign(0.195) - - HMMSmart_SM00214,superfamily_Serine proterase inhibitors,HMMSmart_SM00215,superfamily_PMP inhibitors MUC5B 727897 genome.wustl.edu 37 11 1267632 1267632 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002458.1 +1 validated p.T3177 0.000 225 0.4% 311 42.4% 1 100% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1271222 1271222 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002458.1 +1 validated p.T4375fs 0.000 - - - - - - - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1271225 1271226 + Frame_Shift_Del DEL CG CG - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 CG CG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002458.1 +1 validated p.T4375fs 0.000:0.000 - - - - - - - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1272168 1272168 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002458.1 +1 validated p.T4689 0.000 491 0% 762 26.8% 2 50% - - - NULL BRSK2 9024 genome.wustl.edu 37 11 1475826 1475826 + Silent SNP C C T rs147039698 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003957.2 +1 validated p.H552 0.633 29 0% 62 12.9% 3 33.3% - - - NULL KRTAP5-4 387267 genome.wustl.edu 37 11 1643054 1643054 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012709.1 -1 provisional p.G90 0.996 133 0% 170 11.2% 0 - - - - NULL TNNI2 7136 genome.wustl.edu 37 11 1862136 1862136 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003282.3 +1 reviewed p.E92K 1.000 29 0% 65 33.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Troponin TNNT3 7140 genome.wustl.edu 37 11 1955004 1955004 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006757.3 +1 reviewed p.I75 0.962 69 0% 114 35.1% 0 - - - - HMMPfam_Troponin TSSC4 10078 genome.wustl.edu 37 11 2423909 2423909 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005706.2 +1 reviewed p.E16K 0.000 28 0% 78 29.5% 119 31% benign(0.007) tolerated(0.28) neutral(0.032) NULL NAP1L4 4676 genome.wustl.edu 37 11 2979719 2979719 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005969.3 -1 reviewed p.K268Q 1.000 294 0% 242 32.2% 159 53.4% possibly_damaging(0.81) tolerated(0.1) deleterious(0.591) HMMPfam_NAP ZNF195 7748 genome.wustl.edu 37 11 3380445 3380445 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130520.1 -1 validated p.R598I 1.000 138 0% 120 31.7% 18 44.4% possibly_damaging(0.476) tolerated(0.23) neutral(0.199) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF195 7748 genome.wustl.edu 37 11 3380949 3380949 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130520.1 -1 validated p.R430I 0.986 137 0% 60 33.3% 28 46.4% benign(0.351) tolerated(0.35) neutral(0.132) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NUP98 4928 genome.wustl.edu 37 11 3794885 3794885 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016320.4 -1 reviewed p.E194* 1.000 200 0% 124 29.8% 15 13.3% - - - superfamily_SSF88633 OR51E2 81285 genome.wustl.edu 37 11 4703553 4703553 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030774.3 -1 validated p.R130H 1.000 32 0% 25 32% 0 - probably_damaging(0.999) tolerated(0.36) deleterious(0.510) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52R1 119695 genome.wustl.edu 37 11 4825842 4825842 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005177.3 -1 validated p.F2L 0.000 64 0% 25 36% 0 - unknown(0) - - NULL OR51F2 119694 genome.wustl.edu 37 11 4843542 4843542 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004753.1 +1 provisional p.K309 0.995 143 0% 106 23.6% 0 - - - - superfamily_SSF81321 OR51S1 119692 genome.wustl.edu 37 11 4869657 4869657 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004758.1 -1 provisional p.P261H 0.979 67 0% 39 10.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51A7 119687 genome.wustl.edu 37 11 4929394 4929394 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004749.1 +1 provisional p.K265N 0.002 192 0% 87 27.6% 0 - benign(0.193) deleterious(0.05) neutral(0.363) HMMPfam_7tm_1,superfamily_SSF81321 OR51G1 79324 genome.wustl.edu 37 11 4945280 4945280 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005237.1 -1 provisional p.P97H 0.006 74 0% 36 41.7% 0 - probably_damaging(0.976) tolerated(0.23) neutral(0.459) HMMPfam_7tm_1,superfamily_SSF81321 OR52J3 119679 genome.wustl.edu 37 11 5067941 5067941 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001916.2 +1 validated p.F62L 1.000 182 0% 97 28.9% 0 - benign(0.003) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52J3 119679 genome.wustl.edu 37 11 5068546 5068546 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001916.2 +1 validated p.R264Q 0.113 217 0% 107 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51V1 283111 genome.wustl.edu 37 11 5221169 5221169 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004760.2 -1 validated p.I254 0.676 81 0% 57 28.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51V1 283111 genome.wustl.edu 37 11 5221357 5221357 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004760.2 -1 validated p.D192Y 0.008 26 0% 17 47.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51V1 283111 genome.wustl.edu 37 11 5221481 5221481 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004760.2 -1 validated p.I150M 0.000 31 0% 22 50% 0 - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HBE1 3046 genome.wustl.edu 37 11 5290712 5290712 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005330.3 -1 reviewed p.K96T 1.000 153 0% 58 32.8% 0 - possibly_damaging(0.769) deleterious(0) deleterious(0.730) HMMPfam_Globin,superfamily_Globin-like OR51I1 390063 genome.wustl.edu 37 11 5462531 5462531 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005288.2 -1 validated p.D72Y 1.000 93 0% 73 32.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51I2 390064 genome.wustl.edu 37 11 5475325 5475325 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004754.2 +1 validated p.L203I 0.172 351 0% 331 30.5% 0 - probably_damaging(0.996) tolerated(0.37) deleterious(0.481) HMMPfam_7tm_1,superfamily_SSF81321 OR51I2 390064 genome.wustl.edu 37 11 5475418 5475418 + Missense_Mutation SNP C C T rs181429737 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004754.2 +1 validated p.R234C 0.032 206 0% 215 35.8% 0 - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 UBQLNL 143630 genome.wustl.edu 37 11 5537017 5537017 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145053.4 -1 validated p.S219A 1.000 95 0% 54 31.5% 2 100% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5653761 5653761 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001003819.2 +1 reviewed p.H421R 0.053 102 0% 66 30.3% 10 40% benign(0.046) deleterious(0) neutral(0.447) superfamily_SSF57850 TRIM5 85363 genome.wustl.edu 37 11 5687250 5687250 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033034.2 -1 reviewed p.R277* 0.000 247 0.4% 211 26.1% 8 25% - - - NULL TRIM22 10346 genome.wustl.edu 37 11 5717532 5717532 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006074.3 +1 reviewed p.E24* 0.503 108 0% 122 27% 48 33.3% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box OR56B1 387748 genome.wustl.edu 37 11 5758568 5758568 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005180.1 +1 provisional p.E274D 0.000 127 0% 74 33.8% 0 - benign(0.248) deleterious(0.03) neutral(0.390) HMMPfam_7tm_1,superfamily_SSF81321 OR52N4 390072 genome.wustl.edu 37 11 5776031 5776031 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005175.2 +1 validated p.G21* 1.000 136 0% 75 32% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR52N5 390075 genome.wustl.edu 37 11 5799061 5799061 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001922.2 -1 validated p.F268L 0.743 127 0% 91 9.9% 0 - benign(0.004) tolerated(0.06) neutral(0.323) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52E6 390078 genome.wustl.edu 37 11 5862348 5862348 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005167.1 -1 provisional p.F260L 0.000 85 0% 68 30.9% 0 - benign(0.037) deleterious(0.04) neutral(0.351) HMMPfam_7tm_1,superfamily_SSF81321 OR52E8 390079 genome.wustl.edu 37 11 5878458 5878458 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005168.1 -1 provisional p.L159M 0.000 67 0% 16 50% 0 - benign(0.015) tolerated(0.07) neutral(0.320) HMMPfam_7tm_1,superfamily_SSF81321 OR52E8 390079 genome.wustl.edu 37 11 5878597 5878597 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005168.1 -1 provisional p.F112L 0.431 113 0% 41 39% 0 - benign(0.001) tolerated(0.68) neutral(0.002) HMMPfam_7tm_1,superfamily_SSF81321 OR52E8 390079 genome.wustl.edu 37 11 5878916 5878916 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005168.1 -1 provisional p.S6Y 0.069 71 0% 24 25% 0 - benign(0.145) tolerated(1) neutral(0.013) superfamily_SSF81321 OR52E4 390081 genome.wustl.edu 37 11 5905739 5905739 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005165.1 +1 provisional p.L73M 0.039 143 0% 56 21.4% 0 - possibly_damaging(0.81) deleterious(0.02) deleterious(0.688) HMMPfam_7tm_1,superfamily_SSF81321 OR56A4 120793 genome.wustl.edu 37 11 6023414 6023414 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005179.2 -1 provisional p.R322I 0.092 170 0% 128 28.1% 0 - possibly_damaging(0.604) tolerated(0.06) deleterious(0.532) HMMPfam_7tm_1,superfamily_SSF81321 CNGA4 1262 genome.wustl.edu 37 11 6261616 6261616 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037329.2 +1 validated p.R198C 0.768 19 0% 40 32.5% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HPX 3263 genome.wustl.edu 37 11 6459672 6459672 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000613.2 -1 reviewed p.E135A 0.876 136 0% 115 35.7% 1 100% benign(0.035) tolerated(0.35) neutral(0.022) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX TRIM3 10612 genome.wustl.edu 37 11 6478674 6478674 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006458.2 -1 reviewed p.V183A 1.000 34 0% 54 31.5% 13 0% possibly_damaging(0.762) deleterious(0.01) deleterious(0.688) HMMSmart_SM00502 DNHD1 144132 genome.wustl.edu 37 11 6530231 6530231 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173589.3 +1 validated p.W348G 0.999 138 0% 65 27.7% 4 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL DNHD1 144132 genome.wustl.edu 37 11 6554265 6554265 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144666.2 +1 provisional p.L786M 0.950 76 0% 43 14% 0 - probably_damaging(0.998) tolerated(0.24) deleterious(0.512) NULL DNHD1 144132 genome.wustl.edu 37 11 6567854 6567854 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144666.2 +1 provisional p.P1895 0.000 33 0% 32 21.9% 0 - - - - NULL DNHD1 144132 genome.wustl.edu 37 11 6569488 6569488 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144666.2 +1 provisional p.L2318 0.397 80 0% 73 28.8% 2 50% - - - NULL DNHD1 144132 genome.wustl.edu 37 11 6592569 6592569 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144666.2 +1 provisional p.S4609 0.000 26 0% 62 29% 1 100% - - - HMMPfam_Dynein_heavy TPP1 1200 genome.wustl.edu 37 11 6636546 6636546 + Silent SNP C C T rs34736006 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000391.3 -1 reviewed p.T427 0.132 207 0% 285 29.1% 113 14.1% - - - superfamily_Subtilisin-like TPP1 1200 genome.wustl.edu 37 11 6636679 6636679 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000391.3 -1 reviewed p.S420 0.998 172 0% 274 33.2% 112 12.5% - - - superfamily_Subtilisin-like DCHS1 8642 genome.wustl.edu 37 11 6645487 6645487 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003737.2 -1 reviewed p.D2474N 1.000 25 0% 38 31.6% 10 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6650806 6650806 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003737.2 -1 reviewed p.A1680T 0.974 89 0% 193 33.7% 2 0% benign(0.007) tolerated(0.54) neutral(0.007) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin OR2AG2 338755 genome.wustl.edu 37 11 6789953 6789953 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004490.1 -1 provisional p.P79H 0.999 147 0% 113 24.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR2AG2 338755 genome.wustl.edu 37 11 6790024 6790024 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004490.1 -1 provisional p.L55 0.987 169 0% 108 23.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10A5 144124 genome.wustl.edu 37 11 6867393 6867393 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178168.1 +1 provisional p.Q160H 1.000 157 0% 129 29.5% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_7tm_1,superfamily_SSF81321 OR2D2 120776 genome.wustl.edu 37 11 6913547 6913547 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003700.1 -1 provisional p.F62C 1.000 130 0% 92 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR2D3 120775 genome.wustl.edu 37 11 6943099 6943099 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004684.1 +1 provisional p.M289I 0.138 134 0% 116 29.3% 0 - benign(0) tolerated(0.27) neutral(0.034) HMMPfam_7tm_1,superfamily_SSF81321 ZNF215 7762 genome.wustl.edu 37 11 6953544 6953544 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013250.2 +1 validated p.R14Q 0.234 58 0% 41 36.6% 0 - benign(0) tolerated(1) - NULL ZNF215 7762 genome.wustl.edu 37 11 6977643 6977643 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013250.2 +1 validated p.R479* 0.012 92 0% 65 32.3% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF214 7761 genome.wustl.edu 37 11 7022198 7022198 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013249.2 -1 validated p.R239I 1.000 94 0% 33 27.3% 2 100% benign(0.395) deleterious(0.04) deleterious(0.476) superfamily_C2H2 and C2HC zinc fingers NLRP14 338323 genome.wustl.edu 37 11 7059837 7059837 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176822.3 +1 reviewed p.S7Y 0.868 73 0% 46 17.4% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) superfamily_DEATH_like NLRP14 338323 genome.wustl.edu 37 11 7059846 7059846 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176822.3 +1 reviewed p.F10C 0.997 77 0% 51 11.8% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_DEATH_like NLRP14 338323 genome.wustl.edu 37 11 7064040 7064040 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176822.3 +1 reviewed p.F261 0.999 85 0% 62 27.4% 0 - - - - HMMPfam_NACHT RBMXL2 27288 genome.wustl.edu 37 11 7111393 7111393 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014469.4 +1 reviewed p.R348C 1.000 27 0% 32 25% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYT9 143425 genome.wustl.edu 37 11 7334813 7334813 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175733.3 +1 validated p.K229E 1.000 176 0% 91 31.9% 0 - benign(0.023) tolerated(0.32) neutral(0.025) superfamily_C2_CaLB SYT9 143425 genome.wustl.edu 37 11 7437302 7437302 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175733.3 +1 validated p.F358L 1.000 202 0% 151 25.2% 0 - possibly_damaging(0.922) tolerated(0.22) neutral(0.413) superfamily_C2_CaLB OVCH2 341277 genome.wustl.edu 37 11 7718093 7718093 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198185.2 -1 validated p.L354 0.061 121 0% 48 33.3% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain OR10A6 390093 genome.wustl.edu 37 11 7949654 7949654 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004461.1 -1 provisional p.E186* 0.006 63 0% 17 35.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10A6 390093 genome.wustl.edu 37 11 7949870 7949870 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004461.1 -1 provisional p.L114I 1.000 73 0% 34 23.5% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR10A3 26496 genome.wustl.edu 37 11 7960255 7960255 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001003745.1 -1 provisional p.K271N 0.878 286 0% 133 29.3% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10A3 26496 genome.wustl.edu 37 11 7960642 7960642 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001003745.1 -1 provisional p.M142I 0.001 38 0% 21 42.9% 0 - benign(0.001) tolerated(0.57) neutral(0.006) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NLRP10 338322 genome.wustl.edu 37 11 7981351 7981351 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176821.3 -1 reviewed p.S603Y 0.329 201 0% 148 39.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL NLRP10 338322 genome.wustl.edu 37 11 7982017 7982017 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176821.3 -1 reviewed p.S381N 0.005 70 0% 42 35.7% 0 - benign(0.084) deleterious(0.01) neutral(0.412) NULL LMO1 4004 genome.wustl.edu 37 11 8251941 8251941 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002315.1 -1 reviewed p.E46K 1.000 54 0% 76 36.8% 1 0% possibly_damaging(0.883) tolerated(0.08) deleterious(0.645) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 STK33 65975 genome.wustl.edu 37 11 8457622 8457622 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030906.2 -1 validated p.G338* 1.000 95 0% 38 47.4% 3 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STK33 65975 genome.wustl.edu 37 11 8496329 8496329 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030906.2 -1 validated p.M42L 0.983 182 0% 102 26.5% 0 - benign(0.031) tolerated(0.13) neutral(0.254) NULL TRIM66 9866 genome.wustl.edu 37 11 8645915 8645915 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014818.1 -1 validated p.N828H 0.965 116 0% 80 31.2% 1 100% benign(0.001) deleterious(0) neutral(0.445) NULL TRIM66 9866 genome.wustl.edu 37 11 8661825 8661825 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014818.1 -1 validated p.I554 0.967 63 0% 63 17.5% 2 0% - - - NULL ST5 6764 genome.wustl.edu 37 11 8717062 8717062 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005418.3 -1 reviewed p.E1109D 1.000 180 0% 242 34.3% 46 28.2% benign(0.017) tolerated(0.19) neutral(0.050) NULL C11orf16 56673 genome.wustl.edu 37 11 8947639 8947639 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020643.2 -1 validated p.E192G 1.000 69 0% 59 20.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ASCL3 56676 genome.wustl.edu 37 11 8959238 8959238 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020646.1 -1 provisional p.K157N 0.140 263 0% 137 30.7% 0 - benign(0.195) deleterious(0.04) neutral(0.367) superfamily_HLH helix-loop-helix DNA-binding domain DENND5A 23258 genome.wustl.edu 37 11 9192204 9192204 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015213.2 -1 validated p.D676G 1.000 115 0% 83 31.3% 7 14.2% probably_damaging(0.999) tolerated(0.57) deleterious(0.496) NULL ZNF143 7702 genome.wustl.edu 37 11 9496156 9496156 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003442.5 +1 validated p.A117S 1.000 148 0% 159 32.1% 10 20% possibly_damaging(0.774) deleterious(0.02) deleterious(0.671) NULL ZNF143 7702 genome.wustl.edu 37 11 9530356 9530356 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003442.5 +1 validated p.I446 0.600 174 0% 148 33.8% 32 50% - - - NULL SBF2 81846 genome.wustl.edu 37 11 10011136 10011136 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030962.3 -1 reviewed p.A435P 1.000 197 0% 138 26.1% 2 100% possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) NULL MRVI1 10335 genome.wustl.edu 37 11 10626024 10626024 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098579.1 -1 reviewed p.Q548H 1.000 356 0% 340 25.9% 3 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_MRVI1 MRVI1 10335 genome.wustl.edu 37 11 10631315 10631315 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098579.1 -1 reviewed p.L502M 1.000 62 0% 66 25.8% 1 0% possibly_damaging(0.744) tolerated(0.3) neutral(0.302) HMMPfam_MRVI1 MRVI1 10335 genome.wustl.edu 37 11 10647626 10647626 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098579.1 -1 reviewed p.E410K 1.000 38 0% 32 40.6% 2 0% possibly_damaging(0.895) tolerated(0.28) neutral(0.384) HMMPfam_MRVI1 CTR9 9646 genome.wustl.edu 37 11 10792055 10792055 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014633.3 +1 provisional p.D750Y 1.000 102 0% 71 42.3% 67 37.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_TPR,superfamily_SSF48452 CTR9 9646 genome.wustl.edu 37 11 10797072 10797072 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014633.3 +1 provisional p.K996T 1.000 100 0% 47 10.6% 60 6.6% unknown(0) tolerated(0.24) - NULL EIF4G2 1982 genome.wustl.edu 37 11 10823939 10823939 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000429377 -1 known p.R420I 1.000 141 0% 198 15.7% 413 16.9% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL ZBED5 58486 genome.wustl.edu 37 11 10875618 10875618 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143667.1 -1 reviewed p.F292S 1.000 75 0% 110 30% 48 39.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZBED5 58486 genome.wustl.edu 37 11 10875972 10875972 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143667.1 -1 reviewed p.S174* 1.000 226 0% 319 31.3% 27 59.2% - - - NULL USP47 55031 genome.wustl.edu 37 11 11955420 11955420 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017944.3 +1 validated p.E535* 1.000 120 0.8% 86 14% 21 23.8% - - - NULL RASSF10 644943 genome.wustl.edu 37 11 13032360 13032360 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080521.1 +1 provisional p.S521P 0.998 31 0% 63 34.9% 6 33.3% - - - NULL FAR1 84188 genome.wustl.edu 37 11 13732401 13732401 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032228.5 +1 validated p.W236L 1.000 85 0% 102 39.2% 41 48.7% possibly_damaging(0.475) tolerated(0.5) neutral(0.167) HMMPfam_NAD_binding_4,superfamily_NAD(P)-bd SPON1 10418 genome.wustl.edu 37 11 14282206 14282206 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000310358 +1 known p.R634Q 1.000 76 0% 109 29.4% 4 0% unknown(0) - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat SPON1 10418 genome.wustl.edu 37 11 14284425 14284425 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000310358 +1 known p.R721* 0.991 60 0% 97 29.9% 1 0% - - - NULL COPB1 1315 genome.wustl.edu 37 11 14482815 14482815 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144061.1 -1 reviewed p.D825N 1.000 135 0% 92 33.7% 214 37.3% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMPfam_Coatamer_beta_C PSMA1 5682 genome.wustl.edu 37 11 14539450 14539450 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_148976.2 -1 reviewed p.T48 0.840 189 0% 140 26.4% 173 34.1% - - - HMMPfam_Proteasome,superfamily_SSF56235 PDE3B 5140 genome.wustl.edu 37 11 14889259 14889259 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000922.3 +1 validated p.E1032* 1.000 216 0% 91 33% 1 0% - - - superfamily_HD-domain/PDEase-like CYP2R1 120227 genome.wustl.edu 37 11 14901712 14901712 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024514.4 -1 reviewed p.L324I 1.000 79 0% 39 25.6% 3 66.6% probably_damaging(0.963) tolerated(0.06) deleterious(0.728) HMMPfam_p450,superfamily_Cytochrome_P450 CALCA 796 genome.wustl.edu 37 11 14989374 14989374 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033953.2 -1 reviewed p.D85G 1.000 71 0% 98 29.6% 0 - - - - HMMPfam_Calc_CGRP_IAPP,HMMSmart_SM00113,PatternScan_CALCITONIN INSC 387755 genome.wustl.edu 37 11 15247227 15247227 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031853.3 +1 provisional p.V388 1.000 77 0% 72 27.8% 0 - - - - superfamily_ARM repeat SOX6 55553 genome.wustl.edu 37 11 16256143 16256143 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033326.3 -1 reviewed p.L174I 1.000 297 0% 65 30.8% 1 100% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL NUCB2 4925 genome.wustl.edu 37 11 17351716 17351716 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005013.2 +1 validated p.E349K 1.000 36 0% 36 25% 37 29.7% benign(0.135) tolerated(0.14) neutral(0.261) NULL ABCC8 6833 genome.wustl.edu 37 11 17474821 17474821 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000352.3 -1 reviewed p.L341I 0.994 109 0% 82 35.4% 0 - benign(0.003) tolerated(0.36) neutral(0.020) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain USH1C 10083 genome.wustl.edu 37 11 17531111 17531111 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153676.3 -1 reviewed p.P602H 0.999 11 0% 15 53.3% 0 - possibly_damaging(0.644) deleterious(0) deleterious(0.670) NULL USH1C 10083 genome.wustl.edu 37 11 17533528 17533528 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153676.3 -1 reviewed p.F445C 1.000 292 0% 309 30.1% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL KCNC1 3746 genome.wustl.edu 37 11 17757714 17757714 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001112741.1 +1 reviewed p.F55L 1.000 21 0% 45 37.8% 0 - benign(0.372) tolerated(0.06) neutral(0.441) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain TPH1 7166 genome.wustl.edu 37 11 18042711 18042711 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004179.2 -1 reviewed p.E388* 1.000 168 0% 148 31.1% 0 - - - - HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains SAA3P 6290 genome.wustl.edu 37 11 18134173 18134173 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000278207 -1 known p.E119D 0.000 57 0% 62 27.4% 0 - - - - HMMPfam_SAA,HMMSmart_SM00197 GTF2H1 2965 genome.wustl.edu 37 11 18359734 18359734 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142307.1 +1 validated p.F142 1.000 236 0% 131 34.4% 13 30.7% - - - HMMPfam_BSD,HMMSmart_SM00751 LDHA 3939 genome.wustl.edu 37 11 18418501 18418501 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005566.3 +1 reviewed p.S38G 1.000 124 0% 196 25% 427 39.5% benign(0.182) deleterious(0.03) neutral(0.381) HMMPfam_Ldh_1_N,superfamily_NAD(P)-binding Rossmann-fold domains LDHA 3939 genome.wustl.edu 37 11 18425415 18425415 + Splice_Site SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000379412 +1 known e6-1 0.000 140 0% 110 29.1% 0 - - - - - LDHA 3939 genome.wustl.edu 37 11 18428876 18428876 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000396222 +1 known p.L260I 0.341 176 0% 286 14% 516 1.1% benign(0.224) deleterious(0.01) neutral(0.428) NULL UEVLD 55293 genome.wustl.edu 37 11 18596924 18596924 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040697.1 -1 validated p.F55V 1.000 147 0% 112 34.8% 4 50% possibly_damaging(0.829) deleterious(0.01) deleterious(0.720) HMMPfam_UEV,superfamily_UBC-like PTPN5 84867 genome.wustl.edu 37 11 18754196 18754196 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006906.1 -1 validated p.I424 1.000 77 0% 101 27.7% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPN5 84867 genome.wustl.edu 37 11 18762297 18762297 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006906.1 -1 validated p.P256 0.835 20 0% 40 32.5% 0 - - - - NULL PTPN5 84867 genome.wustl.edu 37 11 18764893 18764893 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006906.1 -1 validated p.T125 0.000 108 0% 124 36.3% 0 - - - - NULL PTPN5 84867 genome.wustl.edu 37 11 18765571 18765571 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006906.1 -1 validated p.F91 0.558 49 0% 29 34.5% 0 - - - - NULL NAV2 89797 genome.wustl.edu 37 11 19955170 19955170 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182964.5 +1 validated p.K460N 1.000 56 0% 52 21.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DBX1 120237 genome.wustl.edu 37 11 20178687 20178687 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029865.1 -1 provisional p.D190N 1.000 10 0% 39 20.5% 0 - probably_damaging(1) tolerated(0.27) deleterious(0.533) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like DBX1 120237 genome.wustl.edu 37 11 20180780 20180780 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029865.1 -1 provisional p.F142 0.977 214 0% 404 32.9% 0 - - - - NULL PRMT3 10196 genome.wustl.edu 37 11 20448370 20448370 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005788.3 +1 validated p.L318I 1.000 138 0% 76 32.9% 8 75% possibly_damaging(0.945) tolerated(0.08) deleterious(0.690) HMMPfam_Methyltransf_11,superfamily_S-adenosyl-L-methionine-dependent methyltransferases LOC645490 645490 genome.wustl.edu 37 11 20596327 20596327 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_928515.4 +1 model p.K263N 1.000 42 0% 37 27% 0 - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box NELL1 4745 genome.wustl.edu 37 11 21135236 21135236 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006157.3 +1 reviewed p.R468C 1.000 267 0% 160 31.2% 53 37.7% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin ANO5 203859 genome.wustl.edu 37 11 22283748 22283748 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_213599.2 +1 reviewed p.F568L 1.000 238 0% 82 32.9% 2 50% benign(0.287) tolerated(0.46) neutral(0.100) NULL ANO5 203859 genome.wustl.edu 37 11 22294500 22294500 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_213599.2 +1 reviewed p.L734I 1.000 177 0% 120 22.5% 5 40% probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_DUF590 LUZP2 338645 genome.wustl.edu 37 11 24936066 24936066 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009909.2 +1 validated p.K168N 1.000 297 0% 101 11.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ANO3 63982 genome.wustl.edu 37 11 26574805 26574805 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031418.2 +1 validated p.I433M 1.000 76 0% 44 29.5% 0 - possibly_damaging(0.925) tolerated(0.38) neutral(0.391) NULL BBOX1 8424 genome.wustl.edu 37 11 27141378 27141378 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003986.2 +1 reviewed p.K274 1.000 102 0% 54 33.3% 0 - - - - HMMPfam_TauD,superfamily_Clavaminate synthase-like LGR4 55366 genome.wustl.edu 37 11 27412667 27412667 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018490.2 -1 validated p.I125M 0.999 160 0% 69 36.2% 31 32.2% possibly_damaging(0.801) tolerated(0.06) deleterious(0.624) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 LIN7C 55327 genome.wustl.edu 37 11 27523375 27523375 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018362.3 -1 validated p.S44R 1.000 137 0% 144 25% 19 57.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00569,HMMPfam_L27 BDNF 627 genome.wustl.edu 37 11 27679880 27679880 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143810.1 -1 reviewed p.R160 0.477 207 0% 205 45.9% 12 100% - - - NULL BDNF 627 genome.wustl.edu 37 11 27679922 27679922 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143810.1 -1 reviewed p.E146K 0.858 180 0% 259 32.8% 15 93.3% benign(0.35) deleterious(0) deleterious(0.555) NULL KIF18A 81930 genome.wustl.edu 37 11 28119446 28119446 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031217.3 -1 validated p.R17C 1.000 76 0% 75 38.7% 11 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KCNA4 3739 genome.wustl.edu 37 11 30032418 30032418 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002233.2 -1 reviewed p.S603Y 1.000 118 0% 182 33% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL LOC100288976 100288976 genome.wustl.edu 37 11 31086034 31086034 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343074.1 -1 model p.P388L 1.000 125 0% 43 18.6% 0 - - - - NULL DCDC1 341019 genome.wustl.edu 37 11 31312267 31312267 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181807.2 -1 validated p.R296Q 0.998 188 0% 153 26.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF89837 PAX6 5080 genome.wustl.edu 37 11 31815663 31815663 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001604.4 -1 reviewed e7-1 1.000 119 0% 164 28% 0 - - - - - RCN1 5954 genome.wustl.edu 37 11 32118703 32118703 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002901.2 +1 reviewed p.R90* 0.963 67 0% 92 30.4% 206 1.9% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 WT1-AS 51352 genome.wustl.edu 37 11 32460352 32460352 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_023920.1 +1 validated NULL 0.000 40 0% 68 36.8% 0 - - - - - CCDC73 493860 genome.wustl.edu 37 11 32635434 32635434 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008391.2 -1 validated p.K810N 0.000 189 0% 143 25.2% 0 - benign(0) tolerated(0.05) neutral(0.345) NULL CCDC73 493860 genome.wustl.edu 37 11 32657319 32657319 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008391.2 -1 validated p.E370* 1.000 212 0% 87 34.5% 0 - - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32676428 32676428 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008391.2 -1 validated p.E246* 1.000 328 0% 217 24.4% 0 - - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32720855 32720855 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008391.2 -1 validated p.A111D 1.000 331 0.3% 328 26.8% 0 - probably_damaging(1) tolerated(0.47) deleterious(0.511) NULL CCDC73 493860 genome.wustl.edu 37 11 32739659 32739659 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008391.2 -1 validated p.K57T 1.000 236 0% 153 27.5% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL QSER1 79832 genome.wustl.edu 37 11 32954658 32954658 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001076786.1 +1 provisional p.P489 0.349 107 0% 78 25.6% 6 16.6% - - - NULL HIPK3 10114 genome.wustl.edu 37 11 33308795 33308795 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005734.3 +1 validated p.E279K 1.000 98 0% 80 21.2% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C11orf41 25758 genome.wustl.edu 37 11 33565125 33565125 + Silent SNP G G A rs189636606 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012194.1 +1 validated p.S375 0.758 57 0% 40 42.5% 0 - - - - NULL FBXO3 26273 genome.wustl.edu 37 11 33770434 33770434 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012175.3 -1 reviewed p.E313* 1.000 125 0% 61 44.3% 23 8.6% - - - HMMPfam_DUF525,superfamily_ApaG-like (Pfam 04379) PDHX 8050 genome.wustl.edu 37 11 35016654 35016654 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003477.2 +1 reviewed p.E481K 1.000 91 0% 38 50% 55 30.9% benign(0.054) deleterious(0.01) neutral(0.409) HMMPfam_2-oxoacid_dh,superfamily_SSF52777 PAMR1 25891 genome.wustl.edu 37 11 35461197 35461197 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015430.2 -1 validated p.L377I 1.000 118 0% 70 10% 1 0% possibly_damaging(0.461) tolerated(0.19) neutral(0.201) NULL PAMR1 25891 genome.wustl.edu 37 11 35473451 35473451 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015430.2 -1 validated p.E286* 0.002 107 0% 60 21.7% 0 - - - - NULL RAG2 5897 genome.wustl.edu 37 11 36615256 36615256 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000536.3 -1 reviewed p.L155I 0.376 102 0% 81 38.3% 0 - benign(0.015) tolerated(0.26) neutral(0.035) HMMPfam_RAG2 LRRC4C 57689 genome.wustl.edu 37 11 40135960 40135960 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020929.1 -1 validated p.R628Q 1.000 137 0% 120 38.3% 7 14.2% benign(0.091) tolerated(0.59) neutral(0.011) NULL LOC399881 399881 genome.wustl.edu 37 11 43284436 43284436 + RNA SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_040375.2 -1 model NULL 0.998 23 0% 17 41.2% 0 - - - - - API5 8539 genome.wustl.edu 37 11 43345117 43345117 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142930.1 +1 validated p.F227L 1.000 70 0% 45 22.2% 67 43.2% benign(0.002) tolerated(0.72) neutral(0.002) HMMPfam_API5,superfamily_ARM-type_fold TTC17 55761 genome.wustl.edu 37 11 43425575 43425575 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018259.5 +1 validated p.M454V 1.000 215 0% 90 34.4% 28 39.2% benign(0.138) tolerated(0.21) neutral(0.055) superfamily_SSF48452 EXT2 2132 genome.wustl.edu 37 11 44129312 44129312 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000401.3 +1 reviewed p.R30I 1.000 175 0% 126 25.4% 68 38.2% benign(0.033) deleterious(0) neutral(0.446) NULL TSPAN18 90139 genome.wustl.edu 37 11 44948290 44948290 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130783.4 +1 validated p.I227 0.782 87 0% 107 39.3% 0 - - - - HMMPfam_Tetraspannin SYT13 57586 genome.wustl.edu 37 11 45265785 45265785 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020826.2 -1 validated p.D367N 1.000 95 0% 93 30.1% 0 - benign(0.058) tolerated(0.09) neutral(0.300) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYT13 57586 genome.wustl.edu 37 11 45275830 45275830 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020826.2 -1 validated p.R179C 0.002 131 0% 139 33.8% 1 0% benign(0.377) tolerated(0.1) neutral(0.407) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CHST1 8534 genome.wustl.edu 37 11 45671749 45671749 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003654.4 -1 validated p.S242L 0.998 12 0% 24 29.2% 48 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 PHF21A 51317 genome.wustl.edu 37 11 45986914 45986914 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101802.1 -1 validated p.L315 0.956 83 0% 79 38% 10 40% - - - NULL DGKZ 8525 genome.wustl.edu 37 11 46395962 46395962 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105540.1 +1 reviewed p.E661D 1.000 76 0% 101 31.7% 34 32.3% possibly_damaging(0.929) tolerated(0.09) deleterious(0.672) HMMPfam_DAGK_acc,HMMSmart_SM00045 DGKZ 8525 genome.wustl.edu 37 11 46400643 46400643 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105540.1 +1 reviewed p.R1029C 1.000 37 0% 44 40.9% 130 37.6% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CKAP5 9793 genome.wustl.edu 37 11 46771917 46771917 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008938.1 -1 validated p.N1871H 1.000 243 0% 83 27.7% 111 50.4% benign(0.4) tolerated(0.17) neutral(0.188) NULL CKAP5 9793 genome.wustl.edu 37 11 46776439 46776439 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008938.1 -1 validated p.S1623L 1.000 153 0% 70 27.1% 106 46.2% benign(0.114) deleterious(0.01) neutral(0.415) NULL LRP4 4038 genome.wustl.edu 37 11 46903373 46903373 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002334.3 -1 reviewed p.I898 1.000 104 0% 66 45.5% 7 71.4% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain DDB2 1643 genome.wustl.edu 37 11 47259476 47259476 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000107.2 +1 reviewed p.T371M 1.000 87 0% 76 32.9% 37 51.3% probably_damaging(1) tolerated(0.2) deleterious(0.549) superfamily_WD40 repeat-like FNBP4 23360 genome.wustl.edu 37 11 47767815 47767815 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015308.2 -1 validated p.I346M 1.000 242 0% 229 31.9% 15 53.3% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL PTPRJ 5795 genome.wustl.edu 37 11 48142670 48142670 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002843.3 +1 reviewed p.K156N 0.000 113 0% 72 30.6% 7 28.5% benign(0.025) tolerated(0.46) neutral(0.013) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like OR4X2 119764 genome.wustl.edu 37 11 48267433 48267433 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004727.1 +1 provisional p.D260Y 0.932 99 0% 40 12.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C3 256144 genome.wustl.edu 37 11 48347436 48347436 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004702.1 +1 provisional p.R315I 0.993 175 0% 75 10.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like OR4C45 403257 genome.wustl.edu 37 11 48367084 48367084 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000415304 -1 known p.F251L 1.000 131 0% 107 22.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4A47 403253 genome.wustl.edu 37 11 48510533 48510533 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005512.2 +1 validated p.G63 0.000 160 0% 64 29.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 LOC283116 283116 genome.wustl.edu 37 11 49055722 49055722 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_208043.4 +1 model p.A178T 0.000 111 0% 99 29.3% 0 - possibly_damaging(0.864) tolerated(0.13) deleterious(0.587) NULL ENSG00000123447 0 genome.wustl.edu 37 11 49437287 49437287 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000243152 -1 known p.R7* 1.000 93 0% 74 33.8% 0 - - - - superfamily_Di-copper_centre ENSG00000205035 0 genome.wustl.edu 37 11 49598368 49598368 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000357667 +1 known p.V190I 1.000 64 0% 33 30.3% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I OR4A5 81318 genome.wustl.edu 37 11 51412162 51412162 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005272.3 -1 validated p.K78N 0.020 109 0% 44 45.5% 0 - benign(0.003) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C46 119749 genome.wustl.edu 37 11 51515471 51515471 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004703.1 +1 provisional p.L64F 0.276 298 0% 171 33.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 OR4C46 119749 genome.wustl.edu 37 11 51515914 51515914 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004703.1 +1 provisional p.L211 0.000 164 0% 71 31% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TRIM48 79097 genome.wustl.edu 37 11 55032653 55032653 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024114.3 +1 validated p.M108L 0.798 122 0% 36 75% 0 - benign(0) tolerated(1) - HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_RING/U-box OR4A16 81327 genome.wustl.edu 37 11 55110733 55110733 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005274.1 +1 provisional p.P19 0.000 79 0% 32 28.1% 0 - - - - superfamily_SSF81321 OR4A15 81328 genome.wustl.edu 37 11 55135707 55135707 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005275.1 +1 provisional p.E116D 0.074 162 0% 61 23% 0 - benign(0.045) tolerated(0.19) neutral(0.052) HMMPfam_7tm_1,superfamily_SSF81321 OR4C15 81309 genome.wustl.edu 37 11 55322576 55322576 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001920.1 +1 provisional p.S265Y 0.023 217 0% 78 29.5% 0 - possibly_damaging(0.877) tolerated(0.11) deleterious(0.613) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C16 219428 genome.wustl.edu 37 11 55339875 55339875 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004701.2 +1 validated p.S91Y 0.771 203 0% 135 31.9% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_7tm_1,superfamily_SSF81321 OR4C16 219428 genome.wustl.edu 37 11 55340320 55340320 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004701.2 +1 validated p.V239 0.040 145 0% 62 32.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4C11 219429 genome.wustl.edu 37 11 55371523 55371523 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004700.1 -1 provisional p.E109D 0.664 73 0% 48 14.6% 0 - benign(0.09) tolerated(0.09) neutral(0.303) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR4S2 219431 genome.wustl.edu 37 11 55418426 55418426 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004059.2 +1 validated p.S16Y 0.867 162 0% 101 28.7% 0 - possibly_damaging(0.908) deleterious(0) deleterious(0.806) superfamily_Family A G protein-coupled receptor-like OR4S2 219431 genome.wustl.edu 37 11 55419242 55419242 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004059.2 +1 validated p.R288I 1.000 91 0% 52 44.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like OR4C6 219432 genome.wustl.edu 37 11 55433300 55433300 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004704.1 +1 provisional p.L220I 0.233 58 0% 59 40.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5D13 390142 genome.wustl.edu 37 11 55541250 55541250 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001967.1 +1 provisional p.E113* 0.416 256 0% 170 30.6% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR5W2 390148 genome.wustl.edu 37 11 55681278 55681278 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001960.1 -1 provisional p.R261W 0.000 107 0% 86 27.9% 0 - possibly_damaging(0.603) deleterious(0.01) deleterious(0.615) HMMPfam_7tm_1,superfamily_SSF81321 OR5W2 390148 genome.wustl.edu 37 11 55681509 55681509 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001960.1 -1 provisional p.L184I 0.510 41 0% 21 23.8% 0 - benign(0.07) tolerated(0.15) neutral(0.246) HMMPfam_7tm_1,superfamily_SSF81321 OR5W2 390148 genome.wustl.edu 37 11 55681795 55681795 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001960.1 -1 provisional p.K88N 0.000 108 0% 75 29.3% 0 - benign(0.02) tolerated(0.15) neutral(0.242) HMMPfam_7tm_1,superfamily_SSF81321 OR5W2 390148 genome.wustl.edu 37 11 55681993 55681993 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001960.1 -1 provisional p.E22D 0.000 54 0% 35 40% 0 - benign(0.001) tolerated(0.38) neutral(0.018) superfamily_SSF81321 OR5I1 10798 genome.wustl.edu 37 11 55703065 55703065 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006637.1 -1 reviewed p.N271S 0.014 127 0% 49 40.8% 0 - benign(0.428) deleterious(0.04) deleterious(0.488) HMMPfam_7tm_1,superfamily_SSF81321 OR5I1 10798 genome.wustl.edu 37 11 55703831 55703831 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006637.1 -1 reviewed p.L16I 0.153 38 0% 14 28.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF81321 OR5F1 338674 genome.wustl.edu 37 11 55761919 55761919 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003697.1 -1 provisional p.F61L 0.951 56 0% 25 48% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_7tm_1,superfamily_SSF81321 OR5AS1 219447 genome.wustl.edu 37 11 55798030 55798030 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001921.1 +1 provisional p.I46L 0.744 98 0% 68 39.7% 0 - benign(0.043) deleterious(0.01) neutral(0.408) HMMPfam_7tm_1,superfamily_SSF81321 OR5AS1 219447 genome.wustl.edu 37 11 55798754 55798754 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001921.1 +1 provisional p.P287L 0.945 75 0% 63 28.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR8J3 81168 genome.wustl.edu 37 11 55904298 55904298 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004064.1 -1 provisional p.V299 0.007 128 0% 166 28.9% 0 - - - - superfamily_SSF81321 OR8J3 81168 genome.wustl.edu 37 11 55904546 55904546 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004064.1 -1 provisional p.S217P 0.473 164 0% 249 30.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_SSF81321 OR8K5 219453 genome.wustl.edu 37 11 55927463 55927463 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004058.2 -1 validated p.E111* 0.408 82 0% 61 32.8% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR8K5 219453 genome.wustl.edu 37 11 55927573 55927573 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004058.2 -1 validated p.S74Y 0.000 103 0% 62 37.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_SSF81321 OR5J2 282775 genome.wustl.edu 37 11 55944611 55944611 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005492.1 +1 provisional p.A173V 0.000 112 0% 54 11.1% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR5T2 219464 genome.wustl.edu 37 11 55999818 55999818 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004746.1 -1 provisional p.A282S 0.006 131 0% 68 19.1% 0 - benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR5T2 219464 genome.wustl.edu 37 11 56000295 56000295 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004746.1 -1 provisional p.D123Y 0.000 125 0% 99 63.6% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_7tm_1,superfamily_SSF81321 OR5T3 390154 genome.wustl.edu 37 11 56020473 56020473 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004747.1 +1 provisional p.K266N 0.987 171 0% 84 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR5T1 390155 genome.wustl.edu 37 11 56043798 56043798 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004745.1 +1 provisional p.I228 0.013 233 0% 145 11% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8H1 219469 genome.wustl.edu 37 11 56057748 56057748 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005199.1 -1 provisional p.S264Y 0.000 175 0% 126 32.5% 0 - possibly_damaging(0.901) deleterious(0) deleterious(0.801) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8K3 219473 genome.wustl.edu 37 11 56086251 56086251 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005202.1 +1 provisional p.L157I 0.002 118 0% 65 27.7% 0 - possibly_damaging(0.951) tolerated(0.16) neutral(0.454) HMMPfam_7tm_1,superfamily_SSF81321 OR8K3 219473 genome.wustl.edu 37 11 56086548 56086548 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005202.1 +1 provisional p.F256V 0.759 151 0% 71 40.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_7tm_1,superfamily_SSF81321 OR8J1 219477 genome.wustl.edu 37 11 56128252 56128252 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005205.1 +1 provisional p.F177C 0.982 281 0% 193 14.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8J1 219477 genome.wustl.edu 37 11 56128327 56128327 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005205.1 +1 provisional p.S202Y 0.542 361 0% 208 27.9% 0 - possibly_damaging(0.515) tolerated(0.1) neutral(0.460) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8U1 219417 genome.wustl.edu 37 11 56143312 56143312 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005204.1 +1 provisional p.F71L 0.001 284 0% 151 23.2% 0 - benign(0.072) tolerated(1) neutral(0.005) HMMPfam_7tm_1,superfamily_SSF81321 OR5M11 219487 genome.wustl.edu 37 11 56310488 56310488 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005245.1 -1 provisional p.S82 0.495 106 0% 91 35.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5AP2 338675 genome.wustl.edu 37 11 56409482 56409482 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002925.1 -1 provisional p.R145I 0.002 81 0% 87 25.3% 0 - possibly_damaging(0.628) deleterious(0.02) deleterious(0.602) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5AP2 338675 genome.wustl.edu 37 11 56409877 56409877 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002925.1 -1 provisional p.T13 0.999 98 0% 118 28.8% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR9G1 390174 genome.wustl.edu 37 11 56467954 56467954 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005213.1 +1 provisional p.L31 0.329 272 0% 179 21.2% 0 - - - - superfamily_SSF81321 OR9G1 390174 genome.wustl.edu 37 11 56468664 56468664 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005213.1 +1 provisional p.F267 0.000 245 0% 151 18.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR9G4 283189 genome.wustl.edu 37 11 56510357 56510357 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005284.1 -1 provisional p.D311Y 0.897 275 0% 219 26.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF81321 OR9G4 283189 genome.wustl.edu 37 11 56510880 56510880 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005284.1 -1 provisional p.D136E 1.000 66 0% 55 27.3% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR9G4 283189 genome.wustl.edu 37 11 56511230 56511230 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005284.1 -1 provisional p.N20H 0.918 76 0% 47 46.8% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_SSF81321 OR5AK2 390181 genome.wustl.edu 37 11 56756655 56756655 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005323.1 +1 provisional p.K89N 0.000 182 0% 91 27.5% 0 - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_7tm_1,superfamily_SSF81321 APLNR 187 genome.wustl.edu 37 11 57004366 57004366 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005161.4 -1 reviewed p.V38A 1.000 17 0% 28 39.3% 1 0% possibly_damaging(0.866) deleterious(0) deleterious(0.780) superfamily_SSF81321 SSRP1 6749 genome.wustl.edu 37 11 57095221 57095221 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003146.2 -1 reviewed p.E583K 1.000 97 0% 168 30.4% 274 48.5% probably_damaging(0.981) tolerated(0.16) deleterious(0.485) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box PRG3 10394 genome.wustl.edu 37 11 57146272 57146272 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006093.3 -1 validated p.R130I 0.008 68 0% 121 33.9% 0 - possibly_damaging(0.808) deleterious(0.01) deleterious(0.710) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like SLC43A1 8501 genome.wustl.edu 37 11 57263539 57263539 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003627.4 -1 provisional p.I219 0.000 68 0% 120 28.3% 36 19.4% - - - superfamily_MFS general substrate transporter UBE2L6 9246 genome.wustl.edu 37 11 57327885 57327885 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004223.3 -1 reviewed p.K16N 0.000 62 0% 77 27.3% 469 40.7% benign(0) tolerated(0.18) neutral(0.056) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like SERPING1 710 genome.wustl.edu 37 11 57374022 57374022 + Splice_Site SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000062.2 +1 reviewed e5+2 0.922 170 0.6% 176 30.7% 0 - - - - - ZDHHC5 25921 genome.wustl.edu 37 11 57463486 57463486 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015457.2 +1 validated p.R327Q 0.998 98 0% 71 29.6% 108 35.1% probably_damaging(0.993) tolerated(0.22) deleterious(0.492) NULL TMX2 51075 genome.wustl.edu 37 11 57480269 57480269 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015959.2 +1 validated p.D60G 1.000 54 0% 97 35.1% 122 47.5% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL CTNND1 1500 genome.wustl.edu 37 11 57561520 57561520 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001085458.1 +1 validated p.Q78H 1.000 162 0% 198 32.3% 23 17.3% possibly_damaging(0.808) deleterious(0.02) deleterious(0.687) NULL OR9Q1 219956 genome.wustl.edu 37 11 57947502 57947502 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005212.3 +1 validated p.E196* 0.666 89 0% 63 20.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5B2 390190 genome.wustl.edu 37 11 58189810 58189810 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005566.2 -1 validated p.L309I 0.000 69 0% 23 43.5% 0 - benign(0.004) tolerated(0.14) neutral(0.249) NULL LPXN 9404 genome.wustl.edu 37 11 58317559 58317559 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143995.1 -1 reviewed p.E188* 0.995 48 0% 21 28.6% 22 0% - - - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 CNTF 1270 genome.wustl.edu 37 11 58391921 58391921 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000614.3 +1 reviewed p.R177C 0.949 74 0% 59 27.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CNTF,superfamily_4-helical cytokines GLYATL1 92292 genome.wustl.edu 37 11 58722290 58722290 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080661.2 +1 provisional p.F109L 0.000 79 0% 44 45.5% 0 - possibly_damaging(0.946) deleterious(0.02) deleterious(0.773) HMMPfam_Gly_acyl_tr_N,superfamily_Acyl_CoA_acyltransferase GLYATL1 92292 genome.wustl.edu 37 11 58722719 58722719 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080661.2 +1 provisional p.S159 0.000 108 1.9% 87 27.6% 0 - - - - HMMPfam_Gly_acyl_tr_N,superfamily_Acyl_CoA_acyltransferase FAM111B 374393 genome.wustl.edu 37 11 58893641 58893641 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198947.3 +1 validated p.L691I 0.001 141 0% 46 32.6% 5 20% possibly_damaging(0.945) tolerated(0.06) deleterious(0.712) superfamily_Trypsin-like serine proteases FAM111A 63901 genome.wustl.edu 37 11 58919526 58919526 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142519.1 +1 validated p.R129C 0.000 88 0% 94 30.9% 30 43.3% benign(0.001) tolerated(0.2) neutral(0.049) NULL FAM111A 63901 genome.wustl.edu 37 11 58919582 58919582 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142519.1 +1 validated p.F147 0.995 95 0% 127 36.2% 26 26.9% - - - NULL ENSG00000235678 0 genome.wustl.edu 37 11 59077748 59077748 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000417462 -1 known p.F37L 0.157 32 0% 12 33.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5AN1 390195 genome.wustl.edu 37 11 59132438 59132438 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004729.1 +1 provisional p.F169L 1.000 173 0% 96 22.9% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_7tm_1,superfamily_SSF81321 OR5AN1 390195 genome.wustl.edu 37 11 59132513 59132513 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004729.1 +1 provisional p.F194L 0.014 176 0% 101 22.8% 0 - benign(0.002) tolerated(0.4) neutral(0.016) HMMPfam_7tm_1,superfamily_SSF81321 OR5A2 219981 genome.wustl.edu 37 11 59189494 59189494 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001954.1 -1 provisional p.G311 0.000 66 0% 41 36.6% 0 - - - - NULL OR4D6 219983 genome.wustl.edu 37 11 59224570 59224570 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004708.1 +1 provisional p.V46G 1.000 294 0% 171 29.8% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_7tm_1,superfamily_SSF81321 OR4D6 219983 genome.wustl.edu 37 11 59225075 59225075 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004708.1 +1 provisional p.L214 0.208 182 0.5% 98 23.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4D10 390197 genome.wustl.edu 37 11 59244942 59244942 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004705.1 +1 provisional p.F14V 0.577 109 0% 56 35.7% 0 - benign(0.008) deleterious(0) neutral(0.445) superfamily_Family A G protein-coupled receptor-like OR4D10 390197 genome.wustl.edu 37 11 59245243 59245243 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004705.1 +1 provisional p.S114Y 0.004 157 0% 59 27.1% 0 - benign(0.283) deleterious(0) deleterious(0.531) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR4D10 390197 genome.wustl.edu 37 11 59245634 59245634 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004705.1 +1 provisional p.I244 0.954 174 0% 103 16.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PATL1 219988 genome.wustl.edu 37 11 59405869 59405869 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152716.2 -1 validated p.I769M 0.990 213 0% 201 13.4% 63 15.8% benign(0.028) tolerated(0.61) neutral(0.005) NULL PATL1 219988 genome.wustl.edu 37 11 59426838 59426838 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152716.2 -1 validated p.L78V 0.998 247 0% 276 35.1% 29 68.9% possibly_damaging(0.892) tolerated(0.09) deleterious(0.648) NULL OR10V1 390201 genome.wustl.edu 37 11 59480469 59480469 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005324.1 -1 provisional p.P284S 0.998 105 0% 111 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR10V1 390201 genome.wustl.edu 37 11 59480513 59480513 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005324.1 -1 provisional p.P269H 1.000 92 0% 73 42.5% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_7tm_1,superfamily_SSF81321 OR10V1 390201 genome.wustl.edu 37 11 59480713 59480713 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005324.1 -1 provisional p.I202 0.854 38 0% 31 19.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 STX3 6809 genome.wustl.edu 37 11 59560949 59560949 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004177.4 +1 reviewed p.D213N 1.000 61 0% 51 29.4% 47 38.2% benign(0.384) tolerated(0.08) neutral(0.422) HMMPfam_SNARE,HMMSmart_SM00397,PatternScan_SYNTAXIN,superfamily_t-snare proteins TCN1 6947 genome.wustl.edu 37 11 59622291 59622291 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001062.3 -1 reviewed p.A319T 0.000 88 0% 38 31.6% 0 - benign(0) tolerated(0.39) neutral(0.016) HMMPfam_Cobalamin_bind TCN1 6947 genome.wustl.edu 37 11 59623359 59623359 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001062.3 -1 reviewed p.S307Y 0.033 148 0% 68 25% 0 - possibly_damaging(0.745) tolerated(0.07) deleterious(0.593) HMMPfam_Cobalamin_bind TCN1 6947 genome.wustl.edu 37 11 59623526 59623526 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001062.3 -1 reviewed p.L251 0.917 134 0% 57 26.3% 0 - - - - HMMPfam_Cobalamin_bind PLAC1L 219990 genome.wustl.edu 37 11 59814451 59814451 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173801.3 +1 provisional p.N128H 0.000 195 0% 97 43.3% 0 - benign(0.003) tolerated(0.18) neutral(0.056) NULL MS4A14 84689 genome.wustl.edu 37 11 60170429 60170429 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032597.3 +1 validated p.A121 0.000 248 0% 89 28.1% 0 - - - - HMMPfam_CD20 MS4A14 84689 genome.wustl.edu 37 11 60183712 60183712 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032597.3 +1 validated p.I424S 0.000 76 0% 77 24.7% 0 - benign(0.002) tolerated(0.79) neutral(0.001) NULL MS4A14 84689 genome.wustl.edu 37 11 60184138 60184138 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032597.3 +1 validated p.A566V 0.000 82 0% 61 27.9% 0 - probably_damaging(1) tolerated(0.65) deleterious(0.503) NULL MS4A14 84689 genome.wustl.edu 37 11 60184302 60184302 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032597.3 +1 validated p.F621I 0.000 85 0% 63 27% 2 0% benign(0) tolerated(0.43) neutral(0.013) NULL MS4A12 54860 genome.wustl.edu 37 11 60271208 60271208 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017716.2 +1 reviewed p.S169Y 0.023 158 0% 235 12.8% 0 - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMPfam_CD20 ZP1 22917 genome.wustl.edu 37 11 60638458 60638458 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207341.2 +1 validated p.Y285 0.993 94 0% 103 26.2% 0 - - - - superfamily_P_trefoil,HMMPfam_Zona_pellucida,HMMSmart_ZP ENSG00000251217 0 genome.wustl.edu 37 11 60786804 60786804 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000505761 -1 known NULL 0.000 31 0% 46 30.4% 24 0% - - - - CD5 921 genome.wustl.edu 37 11 60885914 60885914 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014207.3 +1 validated p.R121K 0.000 85 0% 118 31.4% 8 0% benign(0) tolerated(0.74) neutral(0.002) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like VWCE 220001 genome.wustl.edu 37 11 61026455 61026455 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152718.2 -1 validated p.A854T 0.000 65 0% 62 32.3% 0 - benign(0.03) tolerated(0.43) neutral(0.015) NULL TMEM138 51524 genome.wustl.edu 37 11 61135435 61135435 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016464.4 +1 validated p.D114A 0.994 136 0% 139 24.5% 43 46.5% benign(0.11) tolerated(0.32) neutral(0.033) NULL PPP1R32 220004 genome.wustl.edu 37 11 61257332 61257332 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145017.2 +1 validated p.G374 0.994 30 0% 29 17.2% 9 44.4% - - - NULL DAGLA 747 genome.wustl.edu 37 11 61508004 61508004 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006133.1 +1 validated p.I641 1.000 61 0% 101 28.7% 5 40% - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62285769 62285769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001620.1 -1 validated p.L5374M 1.000 48 0% 44 22.7% 131 34.3% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) NULL ROM1 6094 genome.wustl.edu 37 11 62382204 62382204 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000327.3 +1 reviewed p.D317Y 1.000 95 0% 159 35.2% 3 0% possibly_damaging(0.677) deleterious(0) deleterious(0.685) NULL GNG3 2785 genome.wustl.edu 37 11 62476260 62476260 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012202.3 +1 validated p.F70L 1.000 70 0% 82 31.7% 0 - benign(0.007) tolerated(0.78) neutral(0.001) HMMSmart_SM00224 HNRNPUL2 221092 genome.wustl.edu 37 11 62489351 62489351 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079559.1 -1 provisional p.E475* 1.000 190 0% 259 36.7% 106 7.5% - - - superfamily_SSF52540 HNRNPUL2 221092 genome.wustl.edu 37 11 62490172 62490172 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079559.1 -1 provisional p.F332L 0.997 199 0% 316 33.2% 97 70.1% benign(0.006) tolerated(0.33) neutral(0.024) HMMPfam_SPRY,HMMSmart_SPRY SLC22A6 9356 genome.wustl.edu 37 11 62747357 62747357 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004790.3 -1 reviewed p.I367 1.000 34 0% 43 51.2% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A25 387601 genome.wustl.edu 37 11 62948195 62948195 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199352.3 -1 validated p.S336Y 0.002 189 0% 54 35.2% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A25 387601 genome.wustl.edu 37 11 62996821 62996821 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199352.3 -1 validated p.N102Y 0.224 145 0% 49 26.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC22A25 387601 genome.wustl.edu 37 11 62996888 62996888 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199352.3 -1 validated p.F79 0.505 157 0% 57 28.1% 0 - - - - NULL SLC22A9 114571 genome.wustl.edu 37 11 63176200 63176200 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080866.2 +1 validated p.A484T 0.881 171 0% 73 34.2% 0 - probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMPfam_MFS_1,superfamily_MFS general substrate transporter PLCB3 5331 genome.wustl.edu 37 11 64031234 64031234 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000932.2 +1 reviewed p.E843K 0.998 40 0% 53 35.8% 51 47% benign(0.085) tolerated(0.05) neutral(0.351) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SLC22A11 55867 genome.wustl.edu 37 11 64332703 64332703 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018484.2 +1 reviewed p.S318P 0.000 60 0% 124 33.1% 2 50% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A12 116085 genome.wustl.edu 37 11 64360906 64360906 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144585.2 +1 reviewed p.S179N 0.890 78 0% 112 33.9% 0 - benign(0.005) tolerated(0.17) neutral(0.059) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RASGRP2 10235 genome.wustl.edu 37 11 64503026 64503026 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098670.1 -1 reviewed p.E428 1.000 73 0% 82 37.8% 6 0% - - - NULL PYGM 5837 genome.wustl.edu 37 11 64519102 64519102 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005609.2 -1 reviewed p.F598L 0.021 96 0% 175 33.1% 1 100% benign(0) tolerated(0.09) neutral(0.296) HMMPfam_Phosphorylase,superfamily_SSF53756 MAP4K2 5871 genome.wustl.edu 37 11 64559399 64559399 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004579.2 -1 reviewed p.D692N 0.605 9 0.000 17 0.529 43 48.8% benign(0.037) tolerated(0.53) neutral(0.009) HMMPfam_CNH,HMMSmart_CNH MEN1 4221 genome.wustl.edu 37 11 64577320 64577320 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000244.3 -1 reviewed p.A88T 0.999 71 0% 128 35.2% 69 49.2% probably_damaging(0.959) tolerated(0.05) deleterious(0.748) HMMPfam_Menin GPHA2 170589 genome.wustl.edu 37 11 64702629 64702629 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130769.3 -1 validated p.R41Q 0.937 30 0% 39 28.2% 0 - possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) NULL C11orf2 738 genome.wustl.edu 37 11 64877284 64877284 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013265.2 +1 provisional p.Q589H 1.000 35 0% 57 36.8% 176 41.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC22A20 440044 genome.wustl.edu 37 11 65009546 65009546 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000454680 +1 known p.E553* 0.995 59 0% 124 38.7% 2 100% - - - NULL SCYL1 57410 genome.wustl.edu 37 11 65304101 65304101 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020680.3 +1 reviewed p.A566T 0.889 70 0% 147 27.2% 138 36.9% benign(0.356) - - superfamily_ARM repeat EHBP1L1 254102 genome.wustl.edu 37 11 65351200 65351200 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099409.1 +1 validated p.E1019D 0.999 12 0% 15 33.3% 18 5.5% possibly_damaging(0.94) tolerated(0.1) deleterious(0.671) NULL PCNXL3 399909 genome.wustl.edu 37 11 65392027 65392027 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032223.2 +1 validated p.I934 0.990 61 0% 101 29.7% 49 51% - - - NULL SART1 9092 genome.wustl.edu 37 11 65731592 65731592 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005146.4 +1 reviewed p.E121K 0.999 112 0% 236 36.4% 37 48.6% possibly_damaging(0.936) deleterious(0) deleterious(0.826) HMMPfam_SART-1 SART1 9092 genome.wustl.edu 37 11 65744203 65744203 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005146.4 +1 reviewed p.T608M 0.980 24 0% 50 50% 134 29.1% benign(0.05) tolerated(0.18) neutral(0.059) HMMPfam_SART-1 CST6 1474 genome.wustl.edu 37 11 65780850 65780850 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001323.2 +1 reviewed p.K143N 0.013 122 0% 220 27.7% 3 0% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) HMMSmart_CY,superfamily_SSF54403 BRMS1 25855 genome.wustl.edu 37 11 66105719 66105719 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024957.1 -1 reviewed p.S243L 0.986 135 0% 203 31.5% 89 38.2% benign(0.026) deleterious(0.02) neutral(0.384) NULL NPAS4 266743 genome.wustl.edu 37 11 66190307 66190307 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178864.3 +1 validated p.R198I 1.000 79 0% 134 32.1% 0 - probably_damaging(0.962) tolerated(0.31) neutral(0.432) NULL RBM14 10432 genome.wustl.edu 37 11 66391769 66391769 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006328.3 +1 validated p.R141H 1.000 33 0% 54 33.3% 72 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RBM4 5936 genome.wustl.edu 37 11 66411459 66411459 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002896.2 +1 validated p.P317 0.998 69 0% 29 17.2% 169 48.5% - - - NULL SPTBN2 6712 genome.wustl.edu 37 11 66455100 66455100 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006946.2 -1 reviewed p.E2174K 0.041 44 0% 56 30.4% 4 50% benign(0.256) tolerated(0.64) neutral(0.029) HMMSmart_SM00150 SPTBN2 6712 genome.wustl.edu 37 11 66455516 66455516 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006946.2 -1 reviewed p.P2137T 0.315 224 0.4% 356 28.9% 14 50% possibly_damaging(0.484) tolerated(0.24) neutral(0.198) HMMSmart_SM00150 SPTBN2 6712 genome.wustl.edu 37 11 66456165 66456165 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006946.2 -1 reviewed p.A2064T 0.971 32 0% 66 24.2% 5 40% benign(0.009) tolerated(0.38) neutral(0.018) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN2 6712 genome.wustl.edu 37 11 66478398 66478398 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006946.2 -1 reviewed p.R292I 1.000 83 0% 148 29.7% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRFN4 78999 genome.wustl.edu 37 11 66627249 66627249 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024036.4 +1 validated p.F497 1.000 24 0% 54 33.3% 78 48.7% - - - NULL ADRBK1 156 genome.wustl.edu 37 11 67049958 67049958 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001619.3 +1 reviewed p.D369N 1.000 92 0% 139 33.8% 131 29.7% benign(0.167) deleterious(0.03) neutral(0.380) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PITPNM1 9600 genome.wustl.edu 37 11 67267198 67267198 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004910.2 -1 validated p.T389 0.000 70 1.4% 127 31.5% 24 45.8% - - - NULL SUV420H1 51111 genome.wustl.edu 37 11 67939024 67939024 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017635.3 -1 reviewed p.A269V 1.000 161 0.6% 52 38.5% 67 35.8% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain SUV420H1 51111 genome.wustl.edu 37 11 67939154 67939154 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017635.3 -1 reviewed p.L226V 1.000 187 0% 76 22.4% 58 55.1% benign(0.005) tolerated(0.48) neutral(0.011) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain GAL 51083 genome.wustl.edu 37 11 68458443 68458443 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015973.3 +1 validated p.I120 0.000 76 0% 101 36.6% 0 - - - - HMMSmart_Galanin,HMMPfam_GMAP CPT1A 1374 genome.wustl.edu 37 11 68579970 68579970 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001876.3 -1 reviewed p.T72 0.054 96 0% 136 34.6% 47 36.1% - - - NULL IGHMBP2 3508 genome.wustl.edu 37 11 68707088 68707088 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002180.2 +1 reviewed p.K957N 0.998 32 0% 37 37.8% 14 71.4% probably_damaging(0.97) tolerated(0.08) deleterious(0.712) NULL ANO1 55107 genome.wustl.edu 37 11 70009453 70009453 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000316296 +1 known p.E595K 0.001 187 0% 198 35.9% 3 33.3% benign(0.29) tolerated(0.11) neutral(0.361) NULL KRTAP5-8 57830 genome.wustl.edu 37 11 71249558 71249558 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021046.2 +1 validated p.C153S 0.952 104 1.9% 131 17.6% 0 - unknown(0) deleterious(0.05) - PatternScan_VWFC_1 OR7E87P 8586 genome.wustl.edu 37 11 71331702 71331702 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000454336 +1 known p.S163N 0.812 203 0% 253 33.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC100131539 100131539 genome.wustl.edu 37 11 71528140 71528140 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001723234.2 -1 model p.E107 0.014 234 0% 339 22.4% 0 - - - - NULL PDE2A 5138 genome.wustl.edu 37 11 72290019 72290019 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002599.3 -1 validated p.R797S 0.995 223 0% 275 13.1% 1 0% benign(0) tolerated(0.65) neutral(0.003) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE2A 5138 genome.wustl.edu 37 11 72291959 72291959 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002599.3 -1 validated p.G702C 1.000 117 0% 159 35.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like ARHGEF17 9828 genome.wustl.edu 37 11 73022639 73022639 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014786.3 +1 validated p.E986* 0.994 41 0% 38 34.2% 38 26.3% - - - NULL FAM168A 23201 genome.wustl.edu 37 11 73118642 73118642 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015159.1 -1 predicted p.P214 0.976 123 0% 139 25.9% 49 34.6% - - - NULL PAAF1 80227 genome.wustl.edu 37 11 73610256 73610256 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025155.1 +1 provisional p.M116I 1.000 101 0% 226 27.4% 27 37% benign(0.15) tolerated(0.27) neutral(0.046) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 C2CD3 26005 genome.wustl.edu 37 11 73803515 73803515 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015531.4 -1 validated p.L1155I 1.000 191 0% 121 14% 6 16.6% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL C2CD3 26005 genome.wustl.edu 37 11 73844488 73844488 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015531.4 -1 validated p.S357Y 0.000 151 0% 252 30.2% 9 22.2% benign(0.002) tolerated(0.36) neutral(0.020) NULL C2CD3 26005 genome.wustl.edu 37 11 73850805 73850805 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015531.4 -1 validated p.M184I 0.856 170 0% 131 26.7% 4 0% benign(0.004) tolerated(0.72) neutral(0.002) NULL PGM2L1 283209 genome.wustl.edu 37 11 74056611 74056611 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173582.3 -1 validated p.S374* 0.787 204 0% 183 31.1% 1 0% - - - superfamily_Phosphoglucomutase first 3 domains PGM2L1 283209 genome.wustl.edu 37 11 74082761 74082761 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173582.3 -1 validated p.S127 1.000 131 0% 105 24.8% 6 50% - - - HMMPfam_PGM_PMM_I,superfamily_Phosphoglucomutase first 3 domains XRRA1 143570 genome.wustl.edu 37 11 74562192 74562192 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182969.1 -1 validated p.R433* 1.000 99 0% 79 31.6% 10 0% - - - superfamily_L domain-like SLCO2B1 11309 genome.wustl.edu 37 11 74876897 74876897 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007256.3 +1 validated p.M117I 0.986 161 0% 133 37.6% 13 0% benign(0) tolerated(0.46) neutral(0.012) HMMPfam_OATP,superfamily_MFS general substrate transporter UVRAG 7405 genome.wustl.edu 37 11 75563035 75563035 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003369.3 +1 reviewed p.K75N 0.970 116 0% 57 28.1% 2 0% benign(0.253) tolerated(0.26) neutral(0.060) HMMSmart_C2,superfamily_C2_CaLB WNT11 7481 genome.wustl.edu 37 11 75898246 75898246 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004626.2 -1 reviewed p.D310N 1.000 96 0% 176 26.1% 80 52.5% benign(0.079) tolerated(0.28) neutral(0.037) HMMPfam_wnt,HMMSmart_WNT1 WNT11 7481 genome.wustl.edu 37 11 75902789 75902789 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004626.2 -1 reviewed p.L237V 1.000 25 0% 59 27.1% 43 34.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_wnt,HMMSmart_WNT1 PRKRIR 5612 genome.wustl.edu 37 11 76063704 76063704 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004705.2 -1 provisional p.E164* 1.000 131 0% 62 30.6% 17 76.4% - - - NULL LRRC32 2615 genome.wustl.edu 37 11 76371658 76371658 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128922.1 -1 reviewed p.I327L 1.000 35 0% 29 27.6% 5 0% benign(0.12) tolerated(1) neutral(0.009) HMMPfam_LRR_1,superfamily_SSF52058 CAPN5 726 genome.wustl.edu 37 11 76830085 76830085 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004055.4 +1 reviewed p.E393K 1.000 60 0% 100 34% 15 53.3% benign(0) tolerated(0.07) neutral(0.319) HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 AQP11 282679 genome.wustl.edu 37 11 77301191 77301191 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173039.1 +1 provisional p.L52I 0.528 13 0% 28 28.6% 17 52.9% benign(0.001) tolerated(0.78) neutral(0.001) superfamily_MIP RSF1 51773 genome.wustl.edu 37 11 77386155 77386155 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016578.3 -1 validated p.R1163Q 1.000 222 0% 155 30.3% 14 35.7% probably_damaging(0.974) tolerated(0.07) deleterious(0.735) NULL GAB2 9846 genome.wustl.edu 37 11 77937755 77937755 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080491.2 -1 reviewed p.L321 1.000 115 0% 96 32.3% 4 0% - - - NULL ODZ4 26011 genome.wustl.edu 37 11 78443550 78443550 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098816.2 -1 validated p.E983D 1.000 126 0% 71 32.4% 0 - benign(0.045) tolerated(0.25) neutral(0.040) NULL ODZ4 26011 genome.wustl.edu 37 11 78780876 78780876 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098816.2 -1 validated p.S38 1.000 50 0% 75 30.7% 0 - - - - HMMPfam_Ten_N C11orf82 220042 genome.wustl.edu 37 11 82643743 82643743 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145018.3 +1 validated p.H455N 0.000 41 0% 24 33.3% 10 80% benign(0.001) deleterious(0) neutral(0.445) NULL DLG2 1740 genome.wustl.edu 37 11 83243758 83243758 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142699.1 -1 reviewed p.S729L 1.000 241 0% 121 29.8% 0 - benign(0.102) deleterious(0.05) neutral(0.353) superfamily_SH3-domain DLG2 1740 genome.wustl.edu 37 11 84822753 84822753 + Missense_Mutation SNP C C A rs1452927 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142699.1 -1 reviewed p.Q103H 1.000 145 0% 35 31.4% 0 - benign(0) - - NULL CCDC89 220388 genome.wustl.edu 37 11 85396983 85396983 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152723.1 -1 provisional p.A64V 0.963 68 0% 83 33.7% 1 0% probably_damaging(0.983) tolerated(0.1) deleterious(0.716) NULL SYTL2 54843 genome.wustl.edu 37 11 85418526 85418526 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206927.2 -1 reviewed p.K1021N 1.000 362 0% 200 34.5% 1 0% benign(0.344) deleterious(0) deleterious(0.553) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYTL2 54843 genome.wustl.edu 37 11 85429857 85429857 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206927.2 -1 reviewed p.E853* 1.000 161 0% 77 59.7% 0 - - - - NULL SYTL2 54843 genome.wustl.edu 37 11 85435491 85435491 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206927.2 -1 reviewed p.K670T 0.000 134 0% 77 14.3% 1 0% benign(0.135) deleterious(0) neutral(0.456) NULL SYTL2 54843 genome.wustl.edu 37 11 85435879 85435879 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206927.2 -1 reviewed p.E541* 0.864 237 0% 106 30.2% 0 - - - - NULL SYTL2 54843 genome.wustl.edu 37 11 85437050 85437050 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206927.2 -1 reviewed p.S150 0.008 176 0.6% 149 26.8% 0 - - - - NULL SYTL2 54843 genome.wustl.edu 37 11 85438966 85438966 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032943.3 -1 reviewed p.G478S 0.067 49 0% 53 37.7% 1 0% benign(0.001) tolerated(0.49) neutral(0.011) NULL CCDC83 220047 genome.wustl.edu 37 11 85606409 85606409 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173556.3 +1 provisional p.K195N 1.000 50 0% 25 40% 0 - probably_damaging(0.996) tolerated(0.37) deleterious(0.481) NULL PICALM 8301 genome.wustl.edu 37 11 85723423 85723423 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007166.2 -1 validated p.E187* 1.000 208 0% 104 27.9% 24 4.1% - - - HMMPfam_ANTH,superfamily_GAT-like domain EED 8726 genome.wustl.edu 37 11 85977204 85977204 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003797.2 +1 reviewed p.R269I 1.000 80 0% 89 27% 18 33.3% benign(0.002) tolerated(0.12) neutral(0.261) superfamily_WD40 repeat-like ME3 10873 genome.wustl.edu 37 11 86152479 86152479 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001014811.1 -1 reviewed p.L553I 1.000 172 0% 139 27.3% 28 39.2% benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_Malic_M,superfamily_NAD(P)-bd PRSS23 11098 genome.wustl.edu 37 11 86518836 86518836 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007173.4 +1 validated p.P51T 1.000 150 0% 122 26.2% 47 12.7% possibly_damaging(0.638) tolerated(0.15) neutral(0.465) NULL PRSS23 11098 genome.wustl.edu 37 11 86519634 86519634 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007173.4 +1 validated p.G317R 1.000 122 0% 111 31.5% 61 21.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Trypsin-like serine proteases RAB38 23682 genome.wustl.edu 37 11 87883056 87883056 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022337.1 -1 provisional p.F90 0.738 106 0% 56 26.8% 12 50% - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 CTSC 1075 genome.wustl.edu 37 11 88027375 88027375 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001814.4 -1 reviewed p.F397L 1.000 129 0% 48 29.2% 418 21.5% benign(0.013) deleterious(0.03) neutral(0.365) HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases GRM5 2915 genome.wustl.edu 37 11 88780534 88780534 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143831.2 -1 reviewed p.Q169H 1.000 62 0% 40 25% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,superfamily_Periplasmic binding protein-like I GRM5 2915 genome.wustl.edu 37 11 88780778 88780778 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143831.2 -1 reviewed p.N88S 1.000 143 0% 79 11.4% 1 100% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I NOX4 50507 genome.wustl.edu 37 11 89073328 89073328 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016931.3 -1 reviewed p.K450I 0.188 147 0% 41 34.1% 12 33.3% possibly_damaging(0.846) tolerated(0.1) deleterious(0.611) HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain TRIM77P 390231 genome.wustl.edu 37 11 89447493 89447493 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343107.1 +1 model p.R214I 0.000 94 0% 54 9.3% 0 - - - - NULL TRIM77P 390231 genome.wustl.edu 37 11 89448325 89448325 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343107.1 +1 model e4-1 0.139 149 0% 94 27.7% 0 - - - - - TRIM49 57093 genome.wustl.edu 37 11 89537460 89537460 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020358.2 -1 reviewed p.E60K 0.000 355 0% 286 17.5% 1 0% benign(0.002) tolerated(0.66) neutral(0.003) superfamily_SSF57850 TRIM64B 642446 genome.wustl.edu 37 11 89607411 89607411 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000329862 -1 known p.Q181K 0.015 336 0% 268 12.7% 0 - benign(0.018) deleterious(0.05) neutral(0.346) NULL LOC653111 653111 genome.wustl.edu 37 11 89774681 89774681 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_926073.2 +1 model p.P441L 0.000 97 0% 124 20.2% 0 - benign(0.003) tolerated(0.18) neutral(0.056) HMMPfam_SPRY,HMMSmart_SM00449 NAALAD2 10003 genome.wustl.edu 37 11 89911088 89911088 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005467.3 +1 reviewed p.K554T 0.000 84 0% 51 13.7% 0 - benign(0) tolerated(0.16) neutral(0.059) superfamily_Zn-dependent exopeptidases NAALAD2 10003 genome.wustl.edu 37 11 89911237 89911237 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005467.3 +1 reviewed p.L604I 0.962 77 0% 57 35.1% 0 - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_TFR_dimer,superfamily_Transferrin receptor ectodomain C-terminal domain ENSG00000214391 0 genome.wustl.edu 37 11 90016838 90016838 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000318973 +1 known p.R338H 1.000 87 0% 75 28% 0 - - - - superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C ENSG00000214391 0 genome.wustl.edu 37 11 90016997 90016997 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000318973 +1 known p.K382N 1.000 178 0% 123 25.2% 1320 0% - - - superfamily_Tub_FtsZ_C FAT3 120114 genome.wustl.edu 37 11 92085295 92085295 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008781.2 +1 validated p.G6E 1.000 43 0% 20 35% 0 - possibly_damaging(0.465) tolerated(0.19) neutral(0.203) NULL FAT3 120114 genome.wustl.edu 37 11 92086422 92086422 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008781.2 +1 validated p.D382N 0.345 173 0% 79 30.4% 0 - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_Cadherin,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92087853 92087853 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008781.2 +1 validated p.D859Y 1.000 118 0% 33 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92088406 92088406 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008781.2 +1 validated p.F1043S 1.000 154 0% 69 26.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92258043 92258043 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008781.2 +1 validated p.S1179F 1.000 46 0% 24 16.7% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92495169 92495169 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008781.2 +1 validated p.E1273* 1.000 129 0% 60 38.3% 0 - - - - HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92532478 92532478 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008781.2 +1 validated p.G2100V 1.000 81 0% 35 28.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92534371 92534371 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008781.2 +1 validated p.R2731M 0.020 98 0% 46 30.4% 1 0% possibly_damaging(0.455) deleterious(0.01) deleterious(0.554) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92577151 92577151 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008781.2 +1 validated p.R3540* 0.986 70 0% 59 25.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like MTNR1B 4544 genome.wustl.edu 37 11 92714946 92714946 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005959.3 +1 reviewed p.R186H 0.997 83 0% 80 43.8% 0 - possibly_damaging(0.935) deleterious(0.01) deleterious(0.786) HMMPfam_7tm_1,superfamily_SSF81321 SLC36A4 120103 genome.wustl.edu 37 11 92899138 92899138 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152313.2 -1 provisional p.K271N 1.000 120 0% 66 27.3% 8 0% benign(0.099) tolerated(0.07) neutral(0.327) HMMPfam_Aa_trans KIAA1731 85459 genome.wustl.edu 37 11 93428789 93428789 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033395.1 +1 validated p.Q554K 0.096 59 0% 38 44.7% 1 100% possibly_damaging(0.88) tolerated(0.26) neutral(0.377) NULL SCARNA9 619383 genome.wustl.edu 37 11 93454882 93454882 + RNA SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_002569.1 +1 provisional NULL 0.002 20 0% 16 37.5% 2 0% - - - - KIAA1731 85459 genome.wustl.edu 37 11 93455213 93455213 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033395.1 +1 validated p.P1982T 0.962 146 0% 70 31.4% 8 50% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL MED17 9440 genome.wustl.edu 37 11 93523932 93523932 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004268.4 +1 reviewed p.L204I 1.000 68 0% 68 20.6% 16 68.7% probably_damaging(0.999) tolerated(0.83) deleterious(0.491) HMMPfam_DUF2364 HEPHL1 341208 genome.wustl.edu 37 11 93779033 93779033 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098672.1 +1 validated p.R122Q 1.000 106 0% 68 27.9% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_Cupredoxin,HMMPfam_Cu-oxidase_3 HEPHL1 341208 genome.wustl.edu 37 11 93797538 93797538 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098672.1 +1 validated p.R224* 0.208 191 0% 71 26.8% 0 - - - - superfamily_Cupredoxin HEPHL1 341208 genome.wustl.edu 37 11 93822038 93822038 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098672.1 +1 validated p.R733I 1.000 86 0% 95 25.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Cupredoxin GPR83 10888 genome.wustl.edu 37 11 94113735 94113735 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016540.3 -1 validated p.R284 0.948 66 0% 60 10% 1 100% - - - HMMPfam_7tm_1,superfamily_SSF81321 ANKRD49 54851 genome.wustl.edu 37 11 94230094 94230094 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017704.2 +1 validated p.L79I 0.997 60 0% 63 27% 7 71.4% benign(0.388) deleterious(0) deleterious(0.569) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PIWIL4 143689 genome.wustl.edu 37 11 94310653 94310653 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152431.2 +1 validated p.E170* 0.967 80 0% 64 31.2% 0 - - - - superfamily_PAZ domain KDM4D 55693 genome.wustl.edu 37 11 94731660 94731660 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018039.2 +1 validated p.R375I 0.000 29 3.4% 26 34.6% 4 50% possibly_damaging(0.632) deleterious(0) deleterious(0.665) NULL SESN3 143686 genome.wustl.edu 37 11 94918515 94918515 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144665.2 -1 provisional p.G223* 1.000 87 0% 28 42.9% 7 14.2% - - - HMMPfam_PA26 CEP57 9702 genome.wustl.edu 37 11 95546683 95546683 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014679.3 +1 validated p.K145T 1.000 125 0% 74 33.8% 18 61.1% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_DUF1167 CEP57 9702 genome.wustl.edu 37 11 95564240 95564240 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014679.3 +1 validated p.K441N 0.285 106 0% 49 34.7% 25 52% benign(0.04) tolerated(0.16) neutral(0.062) NULL CCDC82 79780 genome.wustl.edu 37 11 96092197 96092197 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024725.3 -1 validated p.R509I 1.000 429 0% 280 36.8% 21 71.4% possibly_damaging(0.914) deleterious(0.01) deleterious(0.772) NULL JRKL 8690 genome.wustl.edu 37 11 96124874 96124874 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003772.3 +1 reviewed p.K354T 0.955 78 0% 132 27.3% 15 53.3% probably_damaging(0.981) tolerated(0.17) deleterious(0.484) HMMPfam_DDE CNTN5 53942 genome.wustl.edu 37 11 100211262 100211262 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014361.2 +1 reviewed p.S933Y 1.000 90 0% 43 27.9% 0 - probably_damaging(0.956) tolerated(0.11) deleterious(0.671) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ARHGAP42 143872 genome.wustl.edu 37 11 100803894 100803894 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152432.2 +1 provisional p.S202L 1.000 324 0% 115 32.2% 2 100% benign(0.046) deleterious(0.01) neutral(0.408) NULL PGR 5241 genome.wustl.edu 37 11 100922293 100922293 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000926.4 -1 reviewed p.R740Q 1.000 93 0% 48 35.4% 4 50% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain TRPC6 7225 genome.wustl.edu 37 11 101374758 101374758 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004621.5 -1 reviewed p.F314L 1.000 92 0% 52 28.8% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_TRP_2 ANGPTL5 253935 genome.wustl.edu 37 11 101762064 101762064 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178127.4 -1 validated p.K371N 0.999 114 0.9% 56 30.4% 0 - benign(0.286) tolerated(0.14) neutral(0.338) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like KIAA1377 57562 genome.wustl.edu 37 11 101815129 101815129 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020802.2 +1 validated p.R128W 0.996 131 0% 95 33.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1377 57562 genome.wustl.edu 37 11 101832651 101832651 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020802.2 +1 validated p.C295 0.528 76 0% 48 29.2% 0 - - - - NULL BIRC2 329 genome.wustl.edu 37 11 102220612 102220612 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001166.3 +1 reviewed p.L9 0.101 145 0% 260 30% 13 38.4% - - - NULL BIRC2 329 genome.wustl.edu 37 11 102233636 102233636 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001166.3 +1 reviewed p.F335L 1.000 210 0% 132 26.5% 35 34.2% benign(0.021) deleterious(0.01) neutral(0.407) HMMPfam_BIR,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,superfamily_SSF57924 MMP10 4319 genome.wustl.edu 37 11 102641620 102641620 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002425.2 -1 reviewed p.F445L 0.057 98 0% 194 28.9% 5 60% benign(0.036) tolerated(0.19) neutral(0.052) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP3 4314 genome.wustl.edu 37 11 102713251 102713251 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002422.3 -1 reviewed p.A137V 1.000 245 0% 150 26.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" MMP12 4321 genome.wustl.edu 37 11 102743826 102743826 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000326227 -1 known p.F40C 0.796 52 0% 24 20.8% 5 0% - - - HMMPfam_PG_binding_1,superfamily_PGBD-like DYNC2H1 79659 genome.wustl.edu 37 11 103025448 103025448 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080463.1 +1 reviewed p.E1161D 1.000 198 0% 132 25% 3 0% benign(0.005) tolerated(1) - HMMPfam_DHC_N2 DYNC2H1 79659 genome.wustl.edu 37 11 103031686 103031686 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080463.1 +1 reviewed p.E1468 0.980 68 0% 31 32.3% 0 - - - - HMMPfam_DHC_N2 DYNC2H1 79659 genome.wustl.edu 37 11 103116086 103116086 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080463.1 +1 reviewed p.R3349Q 1.000 127 0% 37 29.7% 5 60% benign(0.325) tolerated(0.24) neutral(0.139) NULL CASP4 837 genome.wustl.edu 37 11 104825573 104825573 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001225.3 -1 reviewed p.R55W 0.000 284 0% 119 31.1% 37 13.5% benign(0.245) tolerated(0.13) neutral(0.278) HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain CASP5 838 genome.wustl.edu 37 11 104893891 104893891 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_024239.1 -1 reviewed NULL 0.000 94 0% 57 28.1% 0 - - - - - CASP1 834 genome.wustl.edu 37 11 104900471 104900471 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033292.2 -1 reviewed p.I261 0.999 93 0% 53 18.9% 31 0% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CARD17 440068 genome.wustl.edu 37 11 104971391 104971391 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007232.1 -1 provisional p.E41D 0.030 262 0% 139 30.9% 0 - benign(0.146) tolerated(0.34) neutral(0.036) HMMPfam_CARD,HMMSmart_CARD,superfamily_DEATH_like GRIA4 2893 genome.wustl.edu 37 11 105483032 105483032 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000829.3 +1 reviewed p.E40K 1.000 116 0% 204 36.8% 0 - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA4 2893 genome.wustl.edu 37 11 105483048 105483048 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000829.3 +1 reviewed p.R45Q 1.000 123 0% 217 24.4% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA4 2893 genome.wustl.edu 37 11 105623906 105623906 + Silent SNP C C T rs146471234 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000829.3 +1 reviewed p.Y149 0.984 134 0% 52 34.6% 1 0% - - - HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA4 2893 genome.wustl.edu 37 11 105781203 105781203 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000829.3 +1 reviewed p.D401Y 1.000 210 0% 116 12.1% 8 0% benign(0.012) deleterious(0.02) neutral(0.384) superfamily_SSF53822 GUCY1A2 2977 genome.wustl.edu 37 11 106810754 106810754 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000855.1 -1 validated p.S213Y 1.000 85 0% 42 33.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_HNOB,superfamily_H-NOX domain CWF19L2 143884 genome.wustl.edu 37 11 107286951 107286951 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152434.2 -1 validated p.K534T 0.995 222 0% 125 34.4% 4 75% possibly_damaging(0.637) tolerated(0.31) neutral(0.250) NULL ELMOD1 55531 genome.wustl.edu 37 11 107501287 107501287 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018712.3 +1 validated p.I54 0.872 184 0% 115 31.3% 0 - - - - NULL ELMOD1 55531 genome.wustl.edu 37 11 107518205 107518205 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018712.3 +1 validated p.F144L 1.000 147 0% 92 42.4% 0 - benign(0) tolerated(1) - HMMPfam_ELMO_CED12 ELMOD1 55531 genome.wustl.edu 37 11 107535786 107535786 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018712.3 +1 validated p.E290K 1.000 89 0% 59 30.5% 0 - benign(0.002) tolerated(0.11) neutral(0.272) HMMPfam_ELMO_CED12 SLC35F2 54733 genome.wustl.edu 37 11 107673734 107673734 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017515.4 -1 validated p.G311D 0.934 125 0% 72 31.9% 3 66.6% benign(0.121) tolerated(0.31) neutral(0.036) HMMPfam_DUF914,superfamily_Multidrug resistance efflux transporter EmrE SLC35F2 54733 genome.wustl.edu 37 11 107686623 107686623 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017515.4 -1 validated p.S60N 1.000 90 0% 58 32.8% 6 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_DUF914 CUL5 8065 genome.wustl.edu 37 11 107925453 107925453 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003478.3 +1 validated p.E211D 1.000 85 0% 54 33.3% 5 0% benign(0.037) tolerated(0.53) neutral(0.009) HMMPfam_Cullin,superfamily_Cullin repeat ATM 472 genome.wustl.edu 37 11 108106457 108106457 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000051.3 +1 reviewed p.S131* 1.000 249 0% 117 23.1% 0 - - - - NULL ATM 472 genome.wustl.edu 37 11 108122664 108122664 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000051.3 +1 reviewed p.F570L 0.139 150 0% 120 24.2% 1 0% benign(0.009) tolerated(0.49) neutral(0.011) superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108141988 108141988 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000051.3 +1 reviewed p.S978A 1.000 180 0% 99 20.2% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108153601 108153601 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000051.3 +1 reviewed p.F1247L 1.000 132 0% 75 28% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108170482 108170482 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000051.3 +1 reviewed p.F1683V 1.000 183 0% 75 26.7% 2 0% possibly_damaging(0.496) tolerated(0.05) deleterious(0.511) superfamily_ARM repeat C11orf65 160140 genome.wustl.edu 37 11 108302483 108302483 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152587.3 -1 validated p.N55T 1.000 268 0% 179 26.3% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL KDELC2 143888 genome.wustl.edu 37 11 108350068 108350068 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153705.4 -1 validated p.R418I 1.000 118 0% 61 26.2% 16 50% possibly_damaging(0.598) deleterious(0.04) deleterious(0.556) HMMSmart_SM00672 EXPH5 23086 genome.wustl.edu 37 11 108382675 108382675 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015065.2 -1 validated p.E1187* 0.005 99 0% 58 10.3% 2 50% - - - NULL EXPH5 23086 genome.wustl.edu 37 11 108384130 108384130 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015065.2 -1 validated p.D702Y 0.219 130 0% 90 31.1% 3 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DDX10 1662 genome.wustl.edu 37 11 108547920 108547920 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004398.2 +1 reviewed p.K163Q 1.000 172 0% 158 34.8% 17 41.1% possibly_damaging(0.481) deleterious(0.03) deleterious(0.524) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases RDX 5962 genome.wustl.edu 37 11 110134830 110134830 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002906.3 -1 reviewed p.E108* 1.000 102 0% 85 34.1% 9 0% - - - HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 RDX 5962 genome.wustl.edu 37 11 110134879 110134879 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002906.3 -1 reviewed p.E91D 1.000 93 0% 50 38% 7 28.5% benign(0) tolerated(0.09) neutral(0.296) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 RDX 5962 genome.wustl.edu 37 11 110135536 110135536 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002906.3 -1 reviewed p.G54C 1.000 173 0% 188 11.2% 15 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_FERM_N,HMMSmart_SM00295,superfamily_Ubiquitin-like ARHGAP20 57569 genome.wustl.edu 37 11 110454337 110454337 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020809.2 -1 validated p.A514T 0.996 179 0% 111 30.6% 0 - probably_damaging(0.956) deleterious(0.03) deleterious(0.764) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP C11orf88 399949 genome.wustl.edu 37 11 111385531 111385531 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207430.2 +1 validated p.E8* 0.000 16 0% 42 35.7% 0 - - - - NULL PPP2R1B 5519 genome.wustl.edu 37 11 111626165 111626165 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181699.2 -1 reviewed p.R233C 1.000 66 0% 65 33.8% 22 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM-type_fold ALG9 79796 genome.wustl.edu 37 11 111715427 111715427 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024740.2 -1 reviewed p.F305L 1.000 100 0% 44 27.3% 6 33.3% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Glyco_transf_22 DIXDC1 85458 genome.wustl.edu 37 11 111866133 111866133 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000440460 +1 known p.D511N 0.999 73 0% 48 29.2% 2 50% probably_damaging(0.979) tolerated(0.16) deleterious(0.481) NULL DIXDC1 85458 genome.wustl.edu 37 11 111888523 111888523 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000440460 +1 known p.D628N 1.000 153 0% 171 22.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DIX,HMMSmart_SM00021 DLAT 1737 genome.wustl.edu 37 11 111930706 111930706 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001931.4 +1 reviewed p.K532E 1.000 113 0% 84 29.8% 22 36.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_2-oxoacid_dh,superfamily_CoA-dependent acyltransferases C11orf57 55216 genome.wustl.edu 37 11 111953418 111953418 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001082969.1 +1 validated p.Q202E 0.999 109 0% 138 26.8% 11 54.5% benign(0.013) deleterious(0) neutral(0.445) NULL IL18 3606 genome.wustl.edu 37 11 112020859 112020859 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001562.2 -1 reviewed p.Q54H 1.000 192 0% 78 38.5% 19 0% possibly_damaging(0.95) deleterious(0) deleterious(0.838) HMMSmart_IL1,superfamily_Cytok_IL1_like TEX12 56158 genome.wustl.edu 37 11 112041240 112041240 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031275.4 +1 reviewed p.E54D 1.000 106 0% 158 28.5% 0 - possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL TMPRSS5 80975 genome.wustl.edu 37 11 113569663 113569663 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030770.2 -1 reviewed p.A98T 0.000 70 0% 68 14.7% 2 50% unknown(0) deleterious(0) - NULL TMPRSS5 80975 genome.wustl.edu 37 11 113569741 113569741 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030770.2 -1 reviewed p.L72M 1.000 72 0% 62 24.2% 0 - unknown(0) deleterious(0) - NULL USP28 57646 genome.wustl.edu 37 11 113674585 113674585 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020886.2 -1 validated p.D891E 1.000 104 0% 86 33.7% 18 27.7% probably_damaging(0.996) tolerated(0.73) neutral(0.463) NULL HTR3B 9177 genome.wustl.edu 37 11 113802150 113802150 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006028.3 +1 reviewed p.E86 1.000 186 0% 113 29.2% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like ZBTB16 7704 genome.wustl.edu 37 11 113934591 113934591 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001018011.1 +1 reviewed p.S190* 1.000 30 0% 52 38.5% 0 - - - - NULL ZBTB16 7704 genome.wustl.edu 37 11 114121232 114121232 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001018011.1 +1 reviewed p.P659 0.972 55 0% 65 32.3% 0 - - - - NULL FAM55B 120406 genome.wustl.edu 37 11 114550443 114550443 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182495.5 +1 validated p.I31L 0.046 161 0% 65 38.5% 0 - benign(0.07) tolerated(0.1) neutral(0.291) NULL FAM55B 120406 genome.wustl.edu 37 11 114569031 114569031 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182495.5 +1 validated p.L133M 0.834 275 0% 122 32.8% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_E set domains FAM55B 120406 genome.wustl.edu 37 11 114569318 114569318 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182495.5 +1 validated p.F228L 0.000 97 0% 51 39.2% 0 - benign(0.002) tolerated(0.65) neutral(0.003) NULL APOA1 335 genome.wustl.edu 37 11 116707817 116707817 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000039.1 -1 reviewed p.R34* 0.001 61 0% 94 37.2% 3 33.3% - - - superfamily_SSF47162 SIK3 23387 genome.wustl.edu 37 11 116747037 116747037 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025164.3 -1 validated p.D285Y 1.000 187 0% 94 35.1% 14 28.5% possibly_damaging(0.851) deleterious(0) deleterious(0.772) superfamily_Protein kinase-like (PK-like) SIDT2 51092 genome.wustl.edu 37 11 117064585 117064585 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040455.1 +1 validated p.R743M 0.989 67 0% 126 31% 26 42.3% possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) NULL PCSK7 9159 genome.wustl.edu 37 11 117100550 117100550 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004716.2 -1 reviewed p.G4E 1.000 19 0% 20 30% 25 8% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL RNF214 257160 genome.wustl.edu 37 11 117109397 117109397 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077239.1 +1 validated p.R63I 1.000 61 0% 80 22.5% 12 25% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL RNF214 257160 genome.wustl.edu 37 11 117110570 117110570 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077239.1 +1 validated p.K224N 1.000 119 0% 145 36.6% 10 40% probably_damaging(0.995) tolerated(1) neutral(0.458) NULL RNF214 257160 genome.wustl.edu 37 11 117152097 117152097 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077239.1 +1 validated p.R405W 1.000 181 0.6% 127 33.1% 22 40.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP164 22897 genome.wustl.edu 37 11 117280540 117280540 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014956.4 +1 validated p.A1319S 0.186 41 0% 57 26.3% 11 27.2% benign(0.04) deleterious(0.01) neutral(0.408) NULL DSCAML1 57453 genome.wustl.edu 37 11 117376281 117376281 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020693.2 -1 provisional p.F710L 1.000 151 0% 193 24.4% 0 - probably_damaging(0.998) tolerated(0.24) deleterious(0.512) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin SCN2B 6327 genome.wustl.edu 37 11 118039348 118039348 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004588.4 -1 validated p.F63L 1.000 191 0% 271 34.3% 0 - possibly_damaging(0.903) tolerated(0.48) neutral(0.368) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CD3E 916 genome.wustl.edu 37 11 118183553 118183553 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000733.3 +1 reviewed p.A108 0.000 110 0.9% 107 29.9% 71 0% - - - superfamily_Immunoglobulin ENSG00000244817 0 genome.wustl.edu 37 11 118184605 118184605 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000501549 -1 known NULL 0.000 39 0% 34 26.5% 1 0% - - - - CD3D 915 genome.wustl.edu 37 11 118210547 118210547 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000732.4 -1 reviewed p.L117F 0.758 54 0% 80 37.5% 81 0% benign(0.195) tolerated(0.21) neutral(0.062) NULL CD3D 915 genome.wustl.edu 37 11 118211093 118211093 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000732.4 -1 reviewed p.R91* 1.000 228 0% 234 26.9% 69 0% - - - superfamily_Immunoglobulin CD3D 915 genome.wustl.edu 37 11 118211295 118211295 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000732.4 -1 reviewed p.K23N 0.000 152 0% 148 30.4% 55 0% possibly_damaging(0.905) deleterious(0.02) deleterious(0.742) superfamily_Immunoglobulin UBE4A 9354 genome.wustl.edu 37 11 118244282 118244282 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004788.2 +1 reviewed p.I340S 1.000 209 0% 95 11.6% 6 0% benign(0.167) deleterious(0) neutral(0.460) HMMPfam_Ufd2P_core IFT46 56912 genome.wustl.edu 37 11 118425222 118425222 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020153.3 -1 validated p.T196 0.045 146 0% 120 31.7% 30 43.3% - - - NULL IFT46 56912 genome.wustl.edu 37 11 118430509 118430509 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020153.3 -1 validated p.E12D 0.998 176 0% 152 28.9% 26 53.8% benign(0.181) deleterious(0) neutral(0.461) NULL PHLDB1 23187 genome.wustl.edu 37 11 118512999 118512999 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144758.1 +1 validated p.D922Y 1.000 138 0% 196 29.1% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL TREH 11181 genome.wustl.edu 37 11 118530561 118530561 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000264029 -1 known p.E405 0.000 69 0% 79 20.3% 0 - - - - HMMPfam_Trehalase,superfamily_Six-hairpin glycosidases SLC37A4 2542 genome.wustl.edu 37 11 118898948 118898948 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000330775 -1 known p.A113T 1.000 49 0% 80 18.8% 39 41% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC37A4 2542 genome.wustl.edu 37 11 118900041 118900041 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000330775 -1 known p.I13 1.000 82 0% 126 38.9% 38 55.2% - - - superfamily_MFS general substrate transporter VPS11 55823 genome.wustl.edu 37 11 118948606 118948606 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000300793 +1 known p.R530* 0.953 65 0% 59 25.4% 34 11.7% - - - superfamily_ARM repeat HINFP 25988 genome.wustl.edu 37 11 118997750 118997750 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015517.3 +1 validated p.F32L 0.999 129 0% 126 25.4% 15 26.6% possibly_damaging(0.942) tolerated(0.21) neutral(0.431) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 NLRX1 79671 genome.wustl.edu 37 11 119044612 119044612 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024618.2 +1 reviewed p.Q218H 1.000 61 0% 93 39.8% 11 45.4% benign(0.007) tolerated(0.06) neutral(0.323) HMMPfam_NACHT MCAM 4162 genome.wustl.edu 37 11 119180610 119180610 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006500.2 -1 validated p.D643Y 1.000 140 0% 229 37.1% 34 2.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MCAM 4162 genome.wustl.edu 37 11 119185257 119185257 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006500.2 -1 validated p.Y167* 1.000 48 0% 102 33.3% 10 10% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin USP2 9099 genome.wustl.edu 37 11 119244150 119244150 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004205.4 -1 validated p.S14L 0.737 38 0% 26 26.9% 0 - benign(0.253) deleterious(0) deleterious(0.471) NULL TRIM29 23650 genome.wustl.edu 37 11 119993732 119993732 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012101.3 -1 reviewed p.T455 0.000 140 0% 173 33.5% 1 0% - - - NULL TRIM29 23650 genome.wustl.edu 37 11 120008341 120008341 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012101.3 -1 reviewed p.S133 0.055 27 0% 26 34.6% 0 - unknown(0) - - NULL POU2F3 25833 genome.wustl.edu 37 11 120178322 120178322 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014352.2 +1 validated p.D302Y 1.000 58 0% 51 13.7% 0 - possibly_damaging(0.509) deleterious(0.01) deleterious(0.576) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ARHGEF12 23365 genome.wustl.edu 37 11 120300433 120300433 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015313.1 +1 reviewed p.D226N 1.000 63 0% 32 28.1% 8 0% possibly_damaging(0.575) deleterious(0) deleterious(0.641) NULL ARHGEF12 23365 genome.wustl.edu 37 11 120348882 120348882 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015313.1 +1 reviewed p.E1184* 0.999 88 0% 81 30.9% 19 21% - - - NULL TBCEL 219899 genome.wustl.edu 37 11 120918273 120918273 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130047.1 +1 validated p.S57N 1.000 112 0% 60 15% 5 20% possibly_damaging(0.452) tolerated(1) neutral(0.148) superfamily_SSF52047 TBCEL 219899 genome.wustl.edu 37 11 120957608 120957608 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130047.1 +1 validated p.R360S 1.000 137 0% 53 34% 4 25% probably_damaging(0.961) tolerated(0.34) neutral(0.427) superfamily_SSF54236 TECTA 7007 genome.wustl.edu 37 11 120980043 120980043 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005422.2 +1 reviewed p.R108* 1.000 105 0% 82 41.5% 0 - - - - HMMSmart_SM00539 SORL1 6653 genome.wustl.edu 37 11 121340795 121340795 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003105.4 +1 reviewed p.R122Q 1.000 64 0% 60 35% 23 43.4% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase SORL1 6653 genome.wustl.edu 37 11 121495843 121495843 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003105.4 +1 reviewed p.L2074R 1.000 180 0% 60 18.3% 37 37.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00060,superfamily_Fibronectin type III CRTAM 56253 genome.wustl.edu 37 11 122738133 122738133 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019604.2 +1 validated p.Y278 0.000 136 0% 73 27.4% 2 0% - - - NULL C11orf63 79864 genome.wustl.edu 37 11 122756568 122756568 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024806.2 +1 validated p.R4H 0.001 73 0% 113 23.9% 4 0% benign(0) tolerated(0.49) neutral(0.011) NULL C11orf63 79864 genome.wustl.edu 37 11 122830153 122830153 + Nonstop_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024806.2 +1 validated p.*779Y 0.925 70 0% 31 48.4% 5 40% - - - NULL GRAMD1B 57476 genome.wustl.edu 37 11 123483481 123483481 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020716.1 +1 validated p.E501 1.000 47 0% 52 26.9% 1 0% - - - NULL GRAMD1B 57476 genome.wustl.edu 37 11 123484168 123484168 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020716.1 +1 validated p.E534K 0.992 54 0% 39 33.3% 1 0% possibly_damaging(0.736) tolerated(0.06) deleterious(0.592) NULL OR6X1 390260 genome.wustl.edu 37 11 123624874 123624874 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005188.1 -1 provisional p.F118C 0.994 184 0% 195 29.7% 0 - possibly_damaging(0.444) deleterious(0.03) deleterious(0.509) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR4D5 219875 genome.wustl.edu 37 11 123811220 123811220 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001965.1 +1 provisional p.K299N 0.995 39 0% 32 31.2% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) superfamily_Family A G protein-coupled receptor-like OR10G4 390264 genome.wustl.edu 37 11 123887210 123887210 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004462.1 +1 provisional p.R310M 0.001 114 0% 51 9.8% 0 - benign(0.034) deleterious(0.03) neutral(0.366) NULL OR10G8 219869 genome.wustl.edu 37 11 123900584 123900584 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004464.1 +1 provisional p.F85 0.000 254 0% 138 33.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10G8 219869 genome.wustl.edu 37 11 123900989 123900989 + Silent SNP C C T rs74345231 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004464.1 +1 provisional p.I220 0.579 304 0.3% 130 25.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8G5 219865 genome.wustl.edu 37 11 124134859 124134859 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005198.1 +1 provisional p.K46T 0.005 111 0% 68 42.6% 0 - - - - superfamily_SSF81321 OR8G5 219865 genome.wustl.edu 37 11 124135474 124135474 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005198.1 +1 provisional p.S251I 0.000 216 0% 173 27.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8B3 390271 genome.wustl.edu 37 11 124266319 124266319 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005467.1 -1 provisional p.R310I 0.000 58 0% 55 27.3% 0 - benign(0) deleterious(0.01) neutral(0.406) superfamily_Family A G protein-coupled receptor-like ROBO3 64221 genome.wustl.edu 37 11 124744110 124744110 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022370.3 +1 reviewed p.V643 1.000 50 0% 83 33.7% 0 - - - - superfamily_Fibronectin type III ROBO4 54538 genome.wustl.edu 37 11 124757715 124757715 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019055.5 -1 validated p.S657F 1.000 145 0% 168 36.3% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HEPACAM 220296 genome.wustl.edu 37 11 124794764 124794764 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152722.4 -1 validated p.R96L 1.000 50 0% 119 31.1% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CCDC15 80071 genome.wustl.edu 37 11 124829718 124829718 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025004.2 +1 validated p.K112T 1.000 41 0% 50 26% 1 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL CCDC15 80071 genome.wustl.edu 37 11 124857217 124857217 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025004.2 +1 validated p.M365I 0.000 140 0% 151 29.1% 2 50% benign(0) tolerated(0.37) neutral(0.019) NULL SLC37A2 219855 genome.wustl.edu 37 11 124958022 124958022 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145290.1 +1 validated p.E500* 1.000 116 0% 253 32% 5 0% - - - NULL PKNOX2 63876 genome.wustl.edu 37 11 125221252 125221252 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022062.2 +1 validated p.Q17H 1.000 46 0% 75 40% 0 - unknown(0) deleterious(0) - NULL FEZ1 9638 genome.wustl.edu 37 11 125359520 125359520 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005103.3 -1 reviewed p.E52K 1.000 124 0% 94 38.3% 2 0% possibly_damaging(0.556) deleterious(0) deleterious(0.634) NULL EI24 9538 genome.wustl.edu 37 11 125446171 125446171 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000343678 +1 known p.R70I 1.000 416 0% 440 34.3% 158 49.3% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL STT3A 3703 genome.wustl.edu 37 11 125474139 125474139 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152713.3 +1 validated p.E169* 1.000 130 0% 164 25% 173 7.5% - - - HMMPfam_STT3 ACRV1 56 genome.wustl.edu 37 11 125542516 125542516 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001612.4 -1 reviewed p.R257Q 0.537 130 0% 76 26.3% 0 - possibly_damaging(0.439) tolerated(0.21) neutral(0.187) NULL PUS3 83480 genome.wustl.edu 37 11 125763751 125763751 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031307.3 -1 validated p.E459* 0.915 275 0% 355 28.2% 30 43.3% - - - NULL HYLS1 219844 genome.wustl.edu 37 11 125769601 125769601 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134793.1 +1 reviewed p.S113L 0.993 95 0% 175 63.4% 4 75% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DDX25 29118 genome.wustl.edu 37 11 125781240 125781240 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013264.3 +1 reviewed p.I219 0.268 151 0% 171 32.2% 0 - - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX25 29118 genome.wustl.edu 37 11 125781357 125781357 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013264.3 +1 reviewed p.F258L 0.997 178 0% 205 40% 0 - benign(0.008) tolerated(1) - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CDON 50937 genome.wustl.edu 37 11 125880415 125880415 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016952.4 -1 validated p.R458Q 0.980 149 0% 53 37.7% 1 100% benign(0.138) tolerated(0.09) neutral(0.308) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SRPR 6734 genome.wustl.edu 37 11 126137493 126137493 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003139.3 -1 reviewed p.L106V 0.920 77 0% 121 38% 39 38.4% benign(0.001) tolerated(0.7) neutral(0.002) HMMPfam_SRP-alpha_N DCPS 28960 genome.wustl.edu 37 11 126208231 126208231 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014026.3 +1 validated p.F191 0.909 170 0% 188 27.7% 88 39.7% - - - HMMPfam_DcpS,superfamily_His_triad-like_motif TP53AIP1 63970 genome.wustl.edu 37 11 128807548 128807548 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022112.1 -1 provisional p.D56Y 0.002 63 0% 40 15% 0 - possibly_damaging(0.538) - - NULL ARHGAP32 9743 genome.wustl.edu 37 11 128839656 128839656 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142685.1 -1 validated p.L1804I 1.000 108 0% 131 32.1% 6 66.6% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ARHGAP32 9743 genome.wustl.edu 37 11 128844389 128844389 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142685.1 -1 validated p.V887 0.153 165 0% 185 30.8% 3 33.3% - - - NULL ARHGAP32 9743 genome.wustl.edu 37 11 129062073 129062073 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142685.1 -1 validated p.S7 0.460 168 0% 124 21% 0 - - - - NULL APLP2 334 genome.wustl.edu 37 11 129993619 129993619 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001642.2 +1 validated p.G345 1.000 105 0% 112 37.5% 265 40.7% - - - HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like APLP2 334 genome.wustl.edu 37 11 129999051 129999051 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001642.2 +1 validated p.R469W 1.000 44 0% 50 42% 765 44.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein ZBTB44 29068 genome.wustl.edu 37 11 130130859 130130859 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014155.4 -1 validated p.S304P 0.990 95 0% 38 23.7% 26 34.6% benign(0.007) deleterious(0) neutral(0.445) NULL ZBTB44 29068 genome.wustl.edu 37 11 130131140 130131140 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014155.4 -1 validated p.S210Y 1.000 178 0% 71 22.5% 10 40% benign(0.313) deleterious(0) deleterious(0.542) NULL ZBTB44 29068 genome.wustl.edu 37 11 130131287 130131287 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014155.4 -1 validated p.S161Y 1.000 104 0% 63 33.3% 12 41.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZBTB44 29068 genome.wustl.edu 37 11 130131748 130131748 + Silent SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014155.4 -1 validated p.T7 1.000 49 0% 27 22.2% 16 31.2% - - - superfamily_BTB/POZ_fold ADAMTS8 11095 genome.wustl.edu 37 11 130278671 130278671 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007037.4 -1 reviewed p.E639K 0.996 87 0% 49 32.7% 1 0% benign(0.096) tolerated(1) neutral(0.007) NULL SNX19 399979 genome.wustl.edu 37 11 130775994 130775994 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014758.2 -1 validated p.S766Y 1.000 205 0% 142 35.2% 13 7.6% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL OPCML 4978 genome.wustl.edu 37 11 132812935 132812935 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002545.3 -1 reviewed p.S18Y 1.000 187 0% 323 16.1% 0 - possibly_damaging(0.654) tolerated(0.08) deleterious(0.530) HMMPfam_V-set IGSF9B 22997 genome.wustl.edu 37 11 133805626 133805626 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014987.1 -1 validated p.D285N 1.000 19 0% 40 35% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMSmart_IGc2,HMMSmart_FN3,HMMPfam_I-set,superfamily_SSF48726 NCAPD3 23310 genome.wustl.edu 37 11 134048775 134048775 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015261.2 -1 validated p.E872D 1.000 88 0% 76 35.5% 63 44.4% benign(0.001) tolerated(0.66) neutral(0.003) superfamily_ARM-type_fold NCAPD3 23310 genome.wustl.edu 37 11 134074045 134074045 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015261.2 -1 validated p.R371C 0.999 82 0% 65 32.3% 31 25.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold GLB1L2 89944 genome.wustl.edu 37 11 134237170 134237170 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138342.3 +1 validated p.V275A 1.000 185 0% 304 25% 9 22.2% possibly_damaging(0.929) deleterious(0.05) deleterious(0.722) HMMPfam_Glyco_hydro_35,superfamily_Glyco_hydro_cat B3GAT1 27087 genome.wustl.edu 37 11 134253580 134253580 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018644.3 -1 reviewed p.F205 0.987 14 0% 31 41.9% 2 0% - - - HMMPfam_Glyco_transf_43,superfamily_SSF53448 IQSEC3 440073 genome.wustl.edu 37 12 271213 271213 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015232.1 +1 validated p.S552 1.000 29 0% 46 37% 1 0% - - - superfamily_SSF50729 IQSEC3 440073 genome.wustl.edu 37 12 284040 284040 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000326261 +1 known p.G1130 0.992 14 0% 14 35.7% 0 - - - - NULL SLC6A13 6540 genome.wustl.edu 37 12 331789 331789 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016615.2 -1 provisional p.R475H 0.998 84 0% 147 30.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SNF B4GALNT3 283358 genome.wustl.edu 37 12 662873 662873 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173593.3 +1 validated p.A595V 0.002 70 0% 85 27.1% 11 18.1% benign(0) tolerated(1) - NULL ERC1 23085 genome.wustl.edu 37 12 1192513 1192513 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178040.2 +1 reviewed p.R285* 0.999 96 0% 42 23.8% 9 0% - - - HMMPfam_Cast ERC1 23085 genome.wustl.edu 37 12 1299188 1299188 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178040.2 +1 reviewed p.D774G 1.000 137 0% 143 31.5% 9 66.6% probably_damaging(0.977) tolerated(0.24) neutral(0.456) HMMPfam_Cast ERC1 23085 genome.wustl.edu 37 12 1553877 1553877 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178040.2 +1 reviewed p.A1058 1.000 83 0% 64 31.2% 3 0% - - - NULL CACNA2D4 93589 genome.wustl.edu 37 12 1969369 1969369 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172364.4 -1 reviewed p.R628* 1.000 59 0% 89 25.8% 0 - - - - NULL CACNA2D4 93589 genome.wustl.edu 37 12 1993450 1993450 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172364.4 -1 reviewed p.S437Y 0.958 114 0% 99 34.3% 0 - benign(0.01) deleterious(0) neutral(0.445) HMMSmart_SM00327,superfamily_vWA-like CACNA1C 775 genome.wustl.edu 37 12 2224704 2224704 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199460.2 +1 reviewed p.E122K 1.000 9 0.000 19 0.368 0 - benign(0.001) deleterious(0.01) neutral(0.406) superfamily_Voltage-gated potassium channels CACNA1C 775 genome.wustl.edu 37 12 2595355 2595355 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199460.2 +1 reviewed p.I281 1.000 125 0% 106 38.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1C 775 genome.wustl.edu 37 12 2774770 2774770 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199460.2 +1 reviewed p.V1522 1.000 148 0% 127 33.1% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NRIP2 83714 genome.wustl.edu 37 12 2936836 2936836 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031474.2 -1 validated p.E236D 1.000 88 0% 80 27.5% 2 50% benign(0.004) tolerated(0.42) neutral(0.014) superfamily_Acid proteases TEAD4 7004 genome.wustl.edu 37 12 3131142 3131142 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003213.2 +1 reviewed p.E286K 1.000 123 0% 222 23.9% 6 66.6% possibly_damaging(0.748) tolerated(0.05) deleterious(0.620) HMMPfam_TEA PRMT8 56341 genome.wustl.edu 37 12 3659234 3659234 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019854.3 +1 validated p.A132T 1.000 86 0% 78 23.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_S-adenosyl-L-methionine-dependent methyltransferases EFCAB4B 84766 genome.wustl.edu 37 12 3747479 3747479 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144958.1 -1 validated p.I471 1.000 56 0% 24 37.5% 0 - - - - NULL PARP11 57097 genome.wustl.edu 37 12 3931093 3931093 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020367.4 -1 validated p.R165Q 1.000 132 0% 133 29.3% 3 0% benign(0.076) tolerated(0.44) neutral(0.018) HMMPfam_PARP,superfamily_ADP-ribosylation CCND2 894 genome.wustl.edu 37 12 4398020 4398020 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001759.3 +1 validated p.A195V 1.000 53 0% 65 33.8% 42 28.5% benign(0.186) tolerated(0.74) neutral(0.019) HMMPfam_Cyclin_C,superfamily_Cyclin-like FGF23 8074 genome.wustl.edu 37 12 4479908 4479908 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020638.2 -1 reviewed p.T119 0.014 18 0% 19 36.8% 0 - - - - HMMPfam_FGF,HMMSmart_FGF,superfamily_Cytok_IL1_like FGF6 2251 genome.wustl.edu 37 12 4543527 4543527 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020996.1 -1 reviewed p.E161* 1.000 195 0% 208 34.1% 0 - - - - HMMPfam_FGF,HMMSmart_FGF,PatternScan_HBGF_FGF,superfamily_Cytok_IL1_like C12orf4 57102 genome.wustl.edu 37 12 4627352 4627352 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020374.2 -1 predicted p.K302T 1.000 112 0% 94 36.2% 7 42.8% benign(0.002) tolerated(0.26) neutral(0.034) HMMPfam_DUF2362 RAD51AP1 10635 genome.wustl.edu 37 12 4653015 4653015 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130862.1 +1 validated p.L52V 0.006 78 0% 80 28.7% 11 45.4% possibly_damaging(0.787) deleterious(0) deleterious(0.739) NULL GALNT8 26290 genome.wustl.edu 37 12 4830012 4830012 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017417.1 +1 reviewed p.I57L 0.005 108 0% 73 37% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL GALNT8 26290 genome.wustl.edu 37 12 4872485 4872485 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017417.1 +1 reviewed p.T476P 0.892 138 0% 142 33.8% 0 - benign(0) tolerated(0.48) neutral(0.011) superfamily_SSF53448 KCNA6 3742 genome.wustl.edu 37 12 4919435 4919435 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002235.3 +1 reviewed p.F76L 1.000 46 0% 54 40.7% 0 - possibly_damaging(0.917) deleterious(0) deleterious(0.812) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold KCNA6 3742 genome.wustl.edu 37 12 4919654 4919654 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002235.3 +1 reviewed p.K149 0.999 32 0% 65 40% 0 - - - - NULL LOC390282 390282 genome.wustl.edu 37 12 5141823 5141823 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_372447.5 -1 model p.D91E 1.000 45 0% 29 31% 0 - - - - NULL KCNA5 3741 genome.wustl.edu 37 12 5153716 5153716 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002234.2 +1 reviewed p.L135 1.000 27 0% 33 24.2% 0 - - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCNA5 3741 genome.wustl.edu 37 12 5154075 5154075 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002234.2 +1 reviewed p.I254 0.983 62 0% 122 27% 0 - - - - superfamily_Voltage-gated potassium channels ANO2 57101 genome.wustl.edu 37 12 5685037 5685037 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020373.2 -1 validated p.E862K 0.815 96 0% 61 37.7% 1 0% benign(0.023) tolerated(0.62) neutral(0.005) HMMPfam_DUF590 ANO2 57101 genome.wustl.edu 37 12 5853389 5853389 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020373.2 -1 validated p.A425T 1.000 103 0% 68 39.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL VWF 7450 genome.wustl.edu 37 12 6103289 6103289 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000552.3 -1 reviewed p.E2113* 1.000 77 0% 62 35.5% 54 5.5% - - - NULL TNFRSF1A 7132 genome.wustl.edu 37 12 6443282 6443282 + Silent SNP C C T rs104895280 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001065.2 -1 reviewed p.S56 0.169 207 0% 349 37.8% 88 42% - - - HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like NOP2 4839 genome.wustl.edu 37 12 6677006 6677006 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033714.1 -1 validated p.E27K 0.986 86 0% 149 20.1% 35 42.8% benign(0.307) deleterious(0) deleterious(0.540) NULL ACRBP 84519 genome.wustl.edu 37 12 6749654 6749654 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032489.2 -1 reviewed p.T371I 0.063 36 0% 54 37% 4 0% benign(0.071) tolerated(0.26) neutral(0.039) NULL COPS7A 50813 genome.wustl.edu 37 12 6840199 6840199 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016319.2 +1 validated p.S274 0.976 105 0% 135 26.7% 80 32.5% possibly_damaging(0.435) tolerated(0.25) neutral(0.179) NULL GPR162 27239 genome.wustl.edu 37 12 6933607 6933607 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019858.1 +1 reviewed p.V181 0.998 47 0% 85 14.1% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like USP5 8078 genome.wustl.edu 37 12 6967596 6967596 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098536.1 +1 validated p.K291N 1.000 46 0% 71 39.4% 159 47.7% possibly_damaging(0.88) tolerated(0.21) neutral(0.387) NULL TPI1 7167 genome.wustl.edu 37 12 6978532 6978532 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000365.5 +1 reviewed p.F145 0.829 60 0% 116 25.9% 1029 23.8% - - - HMMPfam_TIM,superfamily_Triosephosphate isomerase (TIM) LRRC23 10233 genome.wustl.edu 37 12 7015783 7015783 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135217.1 +1 validated p.T149 0.054 34 0% 33 39.4% 24 54.1% - - - superfamily_L domain-like C1R 715 genome.wustl.edu 37 12 7188559 7188559 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000290575 -1 known p.I479 0.227 21 0% 20 25% 228 10.9% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases C1R 715 genome.wustl.edu 37 12 7189577 7189577 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000290575 -1 known p.H438 0.011 22 0% 19 26.3% 0 - - - - superfamily_Complement control module/SCR domain C1R 715 genome.wustl.edu 37 12 7242762 7242762 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000290575 -1 known p.F119C 0.960 103 0% 122 32.8% 90 15.5% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CD163 9332 genome.wustl.edu 37 12 7640350 7640350 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000396620 -1 known p.S585Y 0.000 88 0% 51 27.5% 0 - unknown(0) deleterious(0.03) - superfamily_SRCR-like APOBEC1 339 genome.wustl.edu 37 12 7805237 7805237 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001644.3 -1 reviewed p.M80T 0.008 55 0% 73 35.6% 0 - benign(0) tolerated(0.55) neutral(0.007) HMMPfam_APOBEC_N,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine_deaminase-like LOC360030 360030 genome.wustl.edu 37 12 7923057 7923057 + Missense_Mutation SNP C C T rs77290736 byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145465.1 +1 provisional p.T153M 0.490 91 0% 97 12.4% 0 - possibly_damaging(0.711) tolerated(0.09) deleterious(0.553) superfamily_Homeodomain_like C3AR1 719 genome.wustl.edu 37 12 8211352 8211352 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004054.2 -1 validated p.R477I 0.000 51 0% 46 37% 23 0% probably_damaging(0.958) deleterious(0.02) deleterious(0.784) superfamily_Family A G protein-coupled receptor-like ZNF705A 440077 genome.wustl.edu 37 12 8327901 8327901 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004328.2 +1 validated p.L73I 0.000 310 0% 345 15.1% 0 - possibly_damaging(0.564) tolerated(0.13) neutral(0.445) NULL ZNF705A 440077 genome.wustl.edu 37 12 8330011 8330011 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004328.2 +1 validated p.R245 0.014 184 0% 264 32.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FAM90A1 55138 genome.wustl.edu 37 12 8376046 8376046 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018088.3 -1 validated p.R144M 0.019 132 0% 174 19% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MFAP5 8076 genome.wustl.edu 37 12 8808397 8808397 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003480.2 -1 reviewed p.F42V 0.839 131 0% 114 9.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_MAGP A2ML1 144568 genome.wustl.edu 37 12 8975299 8975299 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144670.3 +1 validated p.E18K 0.036 117 0% 83 27.7% 2 50% benign(0.037) tolerated(0.9) neutral(0.002) HMMPfam_A2M_N A2ML1 144568 genome.wustl.edu 37 12 8994121 8994121 + Missense_Mutation SNP G G A rs185181365 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144670.3 +1 validated p.V413I 0.005 122 0% 99 31.3% 1 0% benign(0.022) deleterious(0.04) neutral(0.350) NULL A2ML1 144568 genome.wustl.edu 37 12 9010163 9010163 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144670.3 +1 validated p.R1029Q 0.005 132 0% 74 28.4% 2 50% benign(0.008) tolerated(0.36) neutral(0.020) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp A2M 2 genome.wustl.edu 37 12 9262927 9262927 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000014.4 -1 reviewed p.P163S 1.000 185 0% 100 25% 50 14% possibly_damaging(0.854) deleterious(0) deleterious(0.774) HMMPfam_A2M_N PZP 5858 genome.wustl.edu 37 12 9316372 9316372 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002864.2 -1 validated p.F876L 0.179 100 0% 105 20% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL DDX11L8 100302090 genome.wustl.edu 37 12 9451857 9451857 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000415169 +1 known p.E284* 1.000 123 0% 181 32.6% 20 5% - - - HMMSmart_SM00488 CD69 969 genome.wustl.edu 37 12 9907196 9907196 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001781.2 -1 reviewed p.E160* 0.715 233 0% 161 11.2% 10 0% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CLEC2B 9976 genome.wustl.edu 37 12 10007020 10007020 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005127.2 -1 reviewed p.R101* 0.000 279 0% 122 32% 39 0% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CLEC2A 387836 genome.wustl.edu 37 12 10074693 10074693 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130711.1 -1 provisional p.L93R 0.004 197 0% 81 23.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CLEC7A 64581 genome.wustl.edu 37 12 10280418 10280418 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_197947.2 -1 reviewed p.R44C 0.737 66 0% 90 34.4% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ly49 KLRC1 3821 genome.wustl.edu 37 12 10603094 10603094 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002259.4 -1 reviewed p.V91G 0.001 85 0% 59 27.1% 0 - benign(0.004) deleterious(0.04) neutral(0.349) NULL ENSG00000180574 0 genome.wustl.edu 37 12 10659229 10659229 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000322446 +1 known p.I243S 1.000 210 0% 239 27.6% 47 0% possibly_damaging(0.476) deleterious(0) deleterious(0.602) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases CSDA 8531 genome.wustl.edu 37 12 10871683 10871683 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003651.4 -1 validated p.N108H 1.000 99 0% 216 25.5% 54 40.7% possibly_damaging(0.559) deleterious(0.03) deleterious(0.555) HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins,PatternScan_COLD_SHOCK TAS2R8 50836 genome.wustl.edu 37 12 10959345 10959345 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023918.1 -1 reviewed p.N79H 0.000 130 0% 47 31.9% 0 - benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R9 50835 genome.wustl.edu 37 12 10962537 10962537 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023917.2 -1 reviewed p.I46 0.500 58 0% 25 36% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R9 50835 genome.wustl.edu 37 12 10962644 10962644 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023917.2 -1 reviewed p.I11V 0.000 35 0% 16 37.5% 0 - benign(0.066) tolerated(0.24) neutral(0.042) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R10 50839 genome.wustl.edu 37 12 10978708 10978708 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023921.1 -1 reviewed p.R54I 1.000 71 0% 46 41.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R14 50840 genome.wustl.edu 37 12 11091469 11091469 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023922.1 -1 reviewed p.N113T 0.336 57 0% 45 22.2% 1 0% possibly_damaging(0.952) deleterious(0.03) deleterious(0.760) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R42 353164 genome.wustl.edu 37 12 11339433 11339433 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181429.1 -1 provisional p.K37N 0.440 55 0% 29 27.6% 0 - possibly_damaging(0.935) deleterious(0) deleterious(0.825) HMMPfam_TAS2R,superfamily_SSF81321 ETV6 2120 genome.wustl.edu 37 12 12037501 12037501 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001987.4 +1 reviewed p.R378* 1.000 109 0% 57 31.6% 11 9% - - - "HMMPfam_Ets,HMMSmart_SM00413,superfamily_""Winged helix"" DNA-binding domain" BCL2L14 79370 genome.wustl.edu 37 12 12243752 12243752 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138722.1 +1 reviewed p.L216R 1.000 112 0% 116 35.3% 1 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_Bcl-2 inhibitors of programmed cell death LRP6 4040 genome.wustl.edu 37 12 12284876 12284876 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002336.2 -1 reviewed p.L1283 1.000 66 0% 35 28.6% 21 57.1% - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module LRP6 4040 genome.wustl.edu 37 12 12317328 12317328 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002336.2 -1 reviewed p.R644Q 1.000 174 0% 103 30.1% 4 50% probably_damaging(0.958) deleterious(0.04) deleterious(0.750) superfamily_YWTD domain LRP6 4040 genome.wustl.edu 37 12 12339861 12339861 + Silent SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002336.2 -1 reviewed p.P280 1.000 101 0% 78 26.9% 6 66.6% - - - superfamily_YWTD domain ENSG00000199551 0 genome.wustl.edu 37 12 12379653 12379653 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000362681 +1 novel NULL 0.045 62 0% 79 35.4% 0 - - - - - LOH12CR1 118426 genome.wustl.edu 37 12 12588697 12588697 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058169.3 +1 validated p.A113V 1.000 111 0% 59 32.2% 13 84.6% benign(0.431) tolerated(0.28) neutral(0.172) HMMPfam_LOH1CR12 CDKN1B 1027 genome.wustl.edu 37 12 12871222 12871222 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004064.3 +1 reviewed p.G150E 0.142 21 0% 35 25.7% 53 41.5% benign(0.013) deleterious(0) neutral(0.445) NULL DDX47 51202 genome.wustl.edu 37 12 12976232 12976232 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016355.3 +1 reviewed p.I243M 0.994 134 0% 144 31.2% 37 56.7% benign(0.019) tolerated(0.27) neutral(0.035) superfamily_P-loop containing nucleoside triphosphate hydrolases GPRC5D 55507 genome.wustl.edu 37 12 13103186 13103186 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018654.1 -1 reviewed p.L45I 1.000 63 0% 44 15.9% 0 - probably_damaging(0.979) tolerated(0.06) deleterious(0.744) HMMPfam_7tm_3 KIAA1467 57613 genome.wustl.edu 37 12 13214577 13214577 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020853.1 +1 validated p.L201I 0.538 145 0% 73 27.4% 7 0% benign(0.003) deleterious(0.04) neutral(0.349) NULL GSG1 83445 genome.wustl.edu 37 12 13238145 13238145 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080555.1 -1 validated p.A260V 0.833 38 0% 29 27.6% 0 - probably_damaging(0.991) tolerated(0.1) deleterious(0.730) NULL C12orf36 283422 genome.wustl.edu 37 12 13526298 13526298 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182558.1 -1 provisional p.R86Q 0.000 161 0% 83 39.8% 0 - unknown(0) - - NULL GRIN2B 2904 genome.wustl.edu 37 12 13906752 13906752 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000834.3 -1 reviewed p.S170Y 1.000 96 0% 62 35.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53822 GUCY2C 2984 genome.wustl.edu 37 12 14836018 14836018 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004963.3 -1 validated p.S190L 0.272 110 0% 39 38.5% 0 - benign(0.039) deleterious(0.01) neutral(0.408) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I H2AFJ 55766 genome.wustl.edu 37 12 14927688 14927688 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177925.2 +1 reviewed p.N95S 1.000 74 0% 126 29.4% 23 0% benign(0.028) deleterious(0.05) neutral(0.347) HMMSmart_SM00414,superfamily_Histone-fold C12orf69 440087 genome.wustl.edu 37 12 14959566 14959566 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013698.2 -1 validated p.E17* 1.000 84 0% 96 32.3% 0 - - - - NULL C12orf60 144608 genome.wustl.edu 37 12 14976458 14976458 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175874.3 +1 validated p.T197A 0.000 38 0% 35 31.4% 4 75% benign(0.005) tolerated(0.84) neutral(0.001) NULL ART4 420 genome.wustl.edu 37 12 14993625 14993625 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021071.2 -1 reviewed p.R203* 0.997 139 0% 88 33% 0 - - - - HMMPfam_ART,superfamily_ADP-ribosylation RERG 85004 genome.wustl.edu 37 12 15262187 15262187 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032918.1 -1 provisional p.E153* 1.000 161 0% 113 35.4% 1 0% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PTPRO 5800 genome.wustl.edu 37 12 15654578 15654578 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030667.1 +1 reviewed p.S229F 1.000 71 0% 31 25.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PTPRO 5800 genome.wustl.edu 37 12 15654731 15654731 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030667.1 +1 reviewed p.S280Y 0.998 91 0% 39 41% 0 - benign(0.313) deleterious(0) deleterious(0.542) NULL STRAP 11171 genome.wustl.edu 37 12 16048318 16048318 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007178.3 +1 validated p.E176* 1.000 169 0% 138 29.7% 29 3.4% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like DERA 51071 genome.wustl.edu 37 12 16185508 16185508 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015954.2 +1 validated p.E224* 1.000 139 0% 120 26.7% 9 0% - - - HMMPfam_DeoC,superfamily_SSF51569 SLC15A5 729025 genome.wustl.edu 37 12 16377432 16377432 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000344941 -1 known p.L423F 0.085 66 0% 33 24.2% 0 - benign(0.045) tolerated(1) neutral(0.003) HMMPfam_PTR2 SLC15A5 729025 genome.wustl.edu 37 12 16377525 16377525 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000344941 -1 known p.L392I 0.793 70 0% 31 51.6% 0 - benign(0.351) tolerated(0.81) neutral(0.112) HMMPfam_PTR2 SLC15A5 729025 genome.wustl.edu 37 12 16430571 16430571 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000344941 -1 known p.H17Y 0.000 104 0% 35 20% 0 - benign(0.044) tolerated(0.53) neutral(0.010) NULL MGST1 4257 genome.wustl.edu 37 12 16516748 16516748 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020300.3 +1 reviewed p.E81* 1.000 215 0% 125 20% 12 58.3% - - - HMMPfam_MAPEG LMO3 55885 genome.wustl.edu 37 12 16713468 16713468 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001395.1 -1 validated p.F71V 1.000 69 0% 64 21.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LOC728622 728622 genome.wustl.edu 37 12 17142863 17142863 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001130365.3 +1 model p.E162D 1.000 102 0% 74 28.4% 0 - - - - HMMPfam_Skp1 RERGL 79785 genome.wustl.edu 37 12 18238553 18238553 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024730.2 -1 provisional e3+1 1.000 228 0% 323 11.5% 0 - - - - - PIK3C2G 5288 genome.wustl.edu 37 12 18446950 18446950 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004570.4 +1 reviewed e4+1 1.000 70 0% 36 38.9% 0 - - - - - PIK3C2G 5288 genome.wustl.edu 37 12 18491459 18491459 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004570.4 +1 reviewed p.L458I 0.160 139 0% 83 16.9% 1 0% possibly_damaging(0.919) tolerated(0.49) neutral(0.380) NULL PLCZ1 89869 genome.wustl.edu 37 12 18854530 18854530 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000447925 -1 known p.E90* 0.000 285 0% 200 11.5% 0 - - - - superfamily_PLC-like_Pdiesterase_TIM-brl PLCZ1 89869 genome.wustl.edu 37 12 18872475 18872475 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033123.2 -1 provisional p.V153 0.998 99 0% 82 36.6% 0 - - - - HMMPfam_efhand_like,superfamily_EF-hand PLCZ1 89869 genome.wustl.edu 37 12 18876261 18876261 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033123.2 -1 provisional p.Y117 1.000 149 0% 87 19.5% 0 - - - - HMMPfam_efhand_like,superfamily_EF-hand CAPZA3 93661 genome.wustl.edu 37 12 18891563 18891563 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033328.2 +1 reviewed p.L121I 0.309 105 0% 41 29.3% 0 - benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_F-actin_cap_A,superfamily_SSF90096 ENSG00000248116 0 genome.wustl.edu 37 12 19461080 19461080 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000510738 +1 novel NULL 0.011 48 0% 70 30% 0 - - - - - AEBP2 121536 genome.wustl.edu 37 12 19665345 19665345 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114176.1 +1 validated p.R438I 1.000 194 0% 111 32.4% 16 50% possibly_damaging(0.864) deleterious(0) deleterious(0.779) NULL PDE3A 5139 genome.wustl.edu 37 12 20787950 20787950 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000921.3 +1 validated p.S654L 0.002 95 0% 37 35.1% 14 7.1% benign(0.013) tolerated(0.2) neutral(0.050) NULL PDE3A 5139 genome.wustl.edu 37 12 20803520 20803520 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000921.3 +1 validated p.E971* 1.000 125 0% 49 22.4% 9 0% - - - HMMPfam_PDEase_I,superfamily_SSF109604 SLCO1C1 53919 genome.wustl.edu 37 12 20876112 20876112 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017435.4 +1 reviewed p.F370 0.997 227 0% 246 35% 0 - - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1C1 53919 genome.wustl.edu 37 12 20905357 20905357 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000381552 +1 known p.E713K 0.292 82 0% 85 29.4% 0 - benign(0.051) deleterious(0.05) neutral(0.348) NULL LST-3TM12 338821 genome.wustl.edu 37 12 21174490 21174490 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009562.4 +1 validated p.R105I 0.006 85 0% 69 20.3% 2 50% benign(0.168) tolerated(0.18) neutral(0.071) HMMPfam_OATP,superfamily_MFS general substrate transporter RECQL 5965 genome.wustl.edu 37 12 21652495 21652495 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002907.3 -1 reviewed p.V4I 0.004 125 0% 222 30.6% 15 33.3% benign(0.005) tolerated(0.73) neutral(0.002) NULL GYS2 2998 genome.wustl.edu 37 12 21728855 21728855 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021957.3 -1 reviewed p.R147Q 1.000 74 0% 56 17.9% 0 - benign(0.056) tolerated(0.61) neutral(0.007) HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase KCNJ8 3764 genome.wustl.edu 37 12 21918677 21918677 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004982.2 -1 reviewed p.Q419K 0.945 122 0% 133 32.3% 4 50% benign(0.006) tolerated(0.05) neutral(0.345) NULL ABCC9 10060 genome.wustl.edu 37 12 21962847 21962847 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005691.2 -1 reviewed p.L1418 1.000 95 0% 19 47.4% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA0528 9847 genome.wustl.edu 37 12 22676481 22676481 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014802.1 -1 predicted p.D227N 1.000 123 0% 85 31.8% 14 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0528 9847 genome.wustl.edu 37 12 22688211 22688211 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014802.1 -1 predicted p.S53L 1.000 95 0% 63 23.8% 12 41.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ETNK1 55500 genome.wustl.edu 37 12 22796814 22796814 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018638.4 +1 reviewed p.E181* 1.000 113 0% 42 23.8% 14 0% - - - HMMPfam_Choline_kinase,superfamily_Kinase_like ETNK1 55500 genome.wustl.edu 37 12 22812085 22812085 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018638.4 +1 reviewed p.K274T 1.000 106 0% 35 20% 6 0% benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_Choline_kinase,superfamily_Kinase_like C12orf77 196415 genome.wustl.edu 37 12 25148921 25148921 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101339.1 -1 validated p.R76Q 0.000 195 0% 106 22.6% 0 - unknown(0) - - NULL C12orf77 196415 genome.wustl.edu 37 12 25148972 25148972 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101339.1 -1 validated p.S59Y 0.000 165 0% 98 24.5% 0 - unknown(0) - - NULL LRMP 4033 genome.wustl.edu 37 12 25254202 25254202 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006152.2 +1 reviewed p.E278* 1.000 89 0% 83 31.3% 4 0% - - - HMMPfam_MRVI1 CASC1 55259 genome.wustl.edu 37 12 25263171 25263171 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018272.3 -1 validated p.P595S 0.026 90 0% 66 36.4% 1 0% benign(0.377) tolerated(0.36) neutral(0.140) NULL IFLTD1 160492 genome.wustl.edu 37 12 25679865 25679865 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145728.1 -1 validated p.A172 0.914 92 0% 70 22.9% 0 - - - - HMMPfam_IF_tail,superfamily_Lamin A/C globular tail domain ITPR2 3709 genome.wustl.edu 37 12 26703270 26703270 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002223.2 -1 validated p.K1661N 1.000 197 0% 58 34.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TM7SF3 51768 genome.wustl.edu 37 12 27156285 27156285 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016551.2 -1 validated p.E44K 0.001 67 0% 61 23% 28 3.5% benign(0) tolerated(0.78) neutral(0.001) NULL TM7SF3 51768 genome.wustl.edu 37 12 27167020 27167020 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016551.2 -1 validated p.S28P 0.260 22 0% 35 40% 39 58.9% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL MED21 9412 genome.wustl.edu 37 12 27181245 27181245 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004264.3 +1 provisional p.E96* 1.000 132 0% 76 10.5% 52 9.6% - - - NULL PPFIBP1 8496 genome.wustl.edu 37 12 27809564 27809564 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003622.2 +1 reviewed p.L238V 0.988 107 0% 52 19.2% 3 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Integrase_DNA OVCH1 341350 genome.wustl.edu 37 12 29586703 29586703 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183378.2 -1 validated p.F1103C 0.006 188 0% 98 23.5% 0 - benign(0.185) - - NULL OVCH1 341350 genome.wustl.edu 37 12 29596324 29596324 + Missense_Mutation SNP C C T rs190712690 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183378.2 -1 validated p.E1043K 0.341 193 0.5% 49 30.6% 0 - possibly_damaging(0.806) tolerated(0.54) neutral(0.311) superfamily_Spermadhesin CUB domain OVCH1 341350 genome.wustl.edu 37 12 29596371 29596371 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183378.2 -1 validated p.P1027L 0.925 173 0% 54 35.2% 0 - benign(0.063) tolerated(0.06) neutral(0.327) superfamily_Spermadhesin CUB domain OVCH1 341350 genome.wustl.edu 37 12 29648378 29648378 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183378.2 -1 validated p.K98N 0.001 132 0% 106 15.1% 0 - possibly_damaging(0.922) tolerated(0.31) neutral(0.399) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TMTC1 83857 genome.wustl.edu 37 12 29659813 29659813 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175861.2 -1 provisional p.R764Q 1.000 335 0% 158 23.4% 7 14.2% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00386,superfamily_TPR-like TMTC1 83857 genome.wustl.edu 37 12 29725107 29725107 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175861.2 -1 provisional p.N380T 1.000 206 0% 97 23.7% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00386,HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_Protein prenylyltransferase IPO8 10526 genome.wustl.edu 37 12 30792624 30792624 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006390.2 -1 reviewed p.G772W 1.000 88 0% 48 10.4% 44 4.5% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_ARM-type_fold CAPRIN2 65981 genome.wustl.edu 37 12 30887917 30887917 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002259.1 -1 validated p.R265I 1.000 166 0% 135 9.6% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CAPRIN2 65981 genome.wustl.edu 37 12 30906297 30906297 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002259.1 -1 validated p.R134I 1.000 56 0% 100 29% 3 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL OVOS2 144203 genome.wustl.edu 37 12 31282765 31282765 + Missense_Mutation SNP A A C rs2536839 byCluster;byFrequency;bySubmitter TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343151.1 -1 model p.F1040C 0.768 141 0% 111 27.9% 0 - - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp OVOS2 144203 genome.wustl.edu 37 12 31292027 31292027 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343151.1 -1 model p.D648Y 1.000 112 0% 65 7.7% 0 - - - - NULL OVOS2 144203 genome.wustl.edu 37 12 31310945 31310945 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343151.1 -1 model p.E224* 0.627 147 0% 147 24.5% 0 - - - - HMMPfam_A2M_N DENND5B 160518 genome.wustl.edu 37 12 31542394 31542394 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144973.3 -1 validated p.L1169I 0.997 90 0% 59 30.5% 1 0% benign(0) tolerated(0.44) neutral(0.013) NULL METTL20 254013 genome.wustl.edu 37 12 31815197 31815197 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135863.1 +1 validated p.S104P 0.999 53 0% 65 24.6% 3 0% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMPfam_Methyltransf_16,superfamily_SSF53335 C12orf35 55196 genome.wustl.edu 37 12 32135911 32135911 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018169.3 +1 validated p.A674 0.996 78 0% 31 22.6% 90 51.1% - - - NULL C12orf35 55196 genome.wustl.edu 37 12 32137387 32137387 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018169.3 +1 validated p.E1166D 0.002 113 0% 64 37.5% 124 40.3% probably_damaging(0.992) tolerated(0.08) deleterious(0.748) NULL C12orf35 55196 genome.wustl.edu 37 12 32138717 32138717 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018169.3 +1 validated p.D1610Y 0.008 60 0% 57 17.5% 118 15.2% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL BICD1 636 genome.wustl.edu 37 12 32260343 32260343 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001714.2 +1 reviewed p.E26D 1.000 75 0% 144 21.5% 38 28.9% possibly_damaging(0.892) tolerated(0.06) deleterious(0.674) NULL BICD1 636 genome.wustl.edu 37 12 32481148 32481148 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001714.2 +1 reviewed p.E587* 0.939 324 0% 250 32% 16 31.2% - - - HMMPfam_BicD FGD4 121512 genome.wustl.edu 37 12 32764103 32764103 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139241.2 +1 reviewed p.E408D 1.000 137 0% 176 29.5% 7 28.5% probably_damaging(0.973) tolerated(0.12) deleterious(0.675) superfamily_DBL homology domain (DH-domain) ALG10B 144245 genome.wustl.edu 37 12 38714264 38714264 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013620.3 +1 validated p.K224T 0.491 340 0% 197 10.2% 4 50% benign(0.261) tolerated(0.54) neutral(0.035) HMMPfam_DIE2_ALG10 CPNE8 144402 genome.wustl.edu 37 12 39242432 39242432 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153634.2 -1 reviewed p.L73F 1.000 69 0% 24 33.3% 0 - possibly_damaging(0.932) deleterious(0.03) deleterious(0.743) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB KIF21A 55605 genome.wustl.edu 37 12 39735860 39735860 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017641.3 -1 validated p.E580D 0.987 425 0% 172 14% 4 0% possibly_damaging(0.896) tolerated(0.39) neutral(0.369) superfamily_WD40 repeat-like KIF21A 55605 genome.wustl.edu 37 12 39745622 39745622 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017641.3 -1 validated p.D544Y 1.000 201 0% 66 31.8% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF21A 55605 genome.wustl.edu 37 12 39761747 39761747 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017641.3 -1 validated p.D180Y 1.000 72 0% 49 20.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCD2 225 genome.wustl.edu 37 12 40013129 40013129 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005164.3 -1 reviewed p.P97S 1.000 105 0% 105 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane_2 C12orf40 283461 genome.wustl.edu 37 12 40034797 40034797 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031748.2 +1 validated e2+1 1.000 173 0% 60 38.3% 0 - - - - - LRRK2 120892 genome.wustl.edu 37 12 40677750 40677750 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198578.3 +1 reviewed p.R772Q 0.998 129 0% 92 25% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRK2 120892 genome.wustl.edu 37 12 40681158 40681158 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198578.3 +1 reviewed p.A836S 0.975 133 0% 100 29% 0 - benign(0.002) tolerated(0.32) neutral(0.024) NULL LRRK2 120892 genome.wustl.edu 37 12 40692085 40692085 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198578.3 +1 reviewed p.K1046T 1.000 200 0% 77 26% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_LRR_1,superfamily_SSF52058 LRRK2 120892 genome.wustl.edu 37 12 40742222 40742222 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198578.3 +1 reviewed p.E2098* 1.000 167 0% 168 36.9% 0 - - - - superfamily_Kinase_like,HMMPfam_Pkinase LRRK2 120892 genome.wustl.edu 37 12 40748239 40748239 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198578.3 +1 reviewed p.E2239K 0.973 102 0% 187 39.6% 0 - benign(0) tolerated(0.41) neutral(0.015) HMMSmart_WD40,superfamily_WD40_like PDZRN4 29951 genome.wustl.edu 37 12 41831773 41831773 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013377.3 +1 validated p.Q9H 1.000 147 0% 54 48.1% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL PDZRN4 29951 genome.wustl.edu 37 12 41966242 41966242 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013377.3 +1 validated p.G296V 1.000 72 0% 31 35.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PDZRN4 29951 genome.wustl.edu 37 12 41967475 41967475 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013377.3 +1 validated p.R707Q 1.000 56 0% 38 26.3% 0 - probably_damaging(0.994) tolerated(1) neutral(0.452) NULL PDZRN4 29951 genome.wustl.edu 37 12 41967577 41967577 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013377.3 +1 validated p.R741I 1.000 47 0% 18 22.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAMTS20 80070 genome.wustl.edu 37 12 43884226 43884226 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025003.3 -1 validated p.C363 1.000 62 0% 77 37.7% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" PUS7L 83448 genome.wustl.edu 37 12 44148312 44148312 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098614.1 -1 validated p.H246R 1.000 353 0% 310 31.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PsdUridine_synth_cat_dom TWF1 5756 genome.wustl.edu 37 12 44191151 44191151 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002822.3 -1 reviewed p.F272L 1.000 226 0% 214 26.2% 30 33.3% benign(0.035) tolerated(0.94) neutral(0.002) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins TWF1 5756 genome.wustl.edu 37 12 44193279 44193279 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002822.3 -1 reviewed p.K169N 0.998 173 0% 187 34.8% 77 51.9% benign(0.015) tolerated(0.11) neutral(0.272) HMMSmart_SM00102,superfamily_Actin depolymerizing proteins TMEM117 84216 genome.wustl.edu 37 12 44782137 44782137 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032256.1 +1 provisional p.F409L 1.000 169 0% 77 33.8% 2 0% possibly_damaging(0.775) tolerated(0.15) deleterious(0.529) NULL NELL2 4753 genome.wustl.edu 37 12 44926475 44926475 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145107.1 -1 reviewed p.Q615K 1.000 100 0% 79 26.6% 2 0% benign(0.002) tolerated(0.31) neutral(0.027) HMMSmart_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 ANO6 196527 genome.wustl.edu 37 12 45742045 45742045 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142679.1 +1 validated p.F194V 1.000 122 0% 72 22.2% 4 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ARID2 196528 genome.wustl.edu 37 12 46243514 46243514 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152641.2 +1 validated p.R623C 1.000 338 0% 144 25% 10 70% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL SCAF11 9169 genome.wustl.edu 37 12 46321688 46321688 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004719.2 -1 validated p.T599I 0.000 73 0% 28 39.3% 7 28.5% benign(0.001) tolerated(0.53) neutral(0.007) NULL SLC38A1 81539 genome.wustl.edu 37 12 46602855 46602855 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077484.1 -1 validated p.I124V 1.000 106 0% 60 21.7% 4 50% benign(0) tolerated(0.13) neutral(0.253) HMMPfam_Aa_trans SLC38A4 55089 genome.wustl.edu 37 12 47182374 47182374 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143824.1 -1 validated p.S49 1.000 292 0% 95 28.4% 0 - - - - NULL AMIGO2 347902 genome.wustl.edu 37 12 47471353 47471353 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143668.1 -1 validated p.G478E 1.000 149 0% 198 30.8% 6 0% probably_damaging(0.971) deleterious(0.01) deleterious(0.819) NULL AMIGO2 347902 genome.wustl.edu 37 12 47472149 47472149 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143668.1 -1 validated p.N213H 0.946 38 0% 86 39.5% 4 25% benign(0.001) tolerated(0.14) neutral(0.249) superfamily_SSF52058 RPAP3 79657 genome.wustl.edu 37 12 48096524 48096524 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024604.2 -1 reviewed p.D34Y 1.000 431 0% 556 33.1% 13 46.1% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL ENDOU 8909 genome.wustl.edu 37 12 48106308 48106308 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006025.3 -1 reviewed p.Y280 0.851 71 0% 89 25.8% 0 - - - - NULL RAPGEF3 10411 genome.wustl.edu 37 12 48134107 48134107 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098531.2 -1 validated p.R768H 1.000 59 0% 65 29.2% 5 40% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF RAPGEF3 10411 genome.wustl.edu 37 12 48140573 48140573 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000395358 -1 known p.P556S 0.000 75 0% 79 34.2% 2 50% unknown(0) - - NULL TMEM106C 79022 genome.wustl.edu 37 12 48359769 48359769 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143842.1 +1 validated p.L134I 0.975 206 0% 338 30.5% 150 35.3% possibly_damaging(0.555) tolerated(0.16) neutral(0.249) HMMPfam_DUF1356 OR10AD1 121275 genome.wustl.edu 37 12 48596884 48596884 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004134.1 -1 provisional p.L64 0.001 124 0% 142 37.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like H1FNT 341567 genome.wustl.edu 37 12 48723499 48723499 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181788.1 +1 provisional p.R142H 0.000 16 0% 24 29.2% 0 - possibly_damaging(0.865) tolerated(0.16) neutral(0.395) NULL ARF3 377 genome.wustl.edu 37 12 49334835 49334835 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001659.2 -1 reviewed p.K15M 1.000 154 0% 119 10.1% 195 10.2% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases DDN 23109 genome.wustl.edu 37 12 49391145 49391145 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015086.1 -1 validated p.V505A 0.000 15 0% 31 29% 0 - benign(0) tolerated(1) - NULL MLL2 8085 genome.wustl.edu 37 12 49416084 49416084 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003482.3 -1 validated p.T5464M 1.000 116 0% 167 46.7% 81 48.1% unknown(0) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain MLL2 8085 genome.wustl.edu 37 12 49424515 49424515 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003482.3 -1 validated p.T4570A 1.000 19 0% 35 28.6% 32 40.6% unknown(0) - - NULL LMBR1L 55716 genome.wustl.edu 37 12 49491808 49491808 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018113.2 -1 validated p.A441T 0.995 31 0% 67 34.3% 32 43.7% benign(0.098) tolerated(0.4) neutral(0.024) HMMPfam_LMBR1 TUBA1A 7846 genome.wustl.edu 37 12 49579497 49579497 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006009.2 -1 reviewed p.D218Y 1.000 162 0% 261 32.6% 127 17.3% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like ENSG00000246003 0 genome.wustl.edu 37 12 49690347 49690347 + RNA SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000501178 -1 known NULL 0.000 75 0% 152 30.9% 0 - - - - - DNAJC22 79962 genome.wustl.edu 37 12 49745225 49745225 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024902.2 +1 provisional p.E322 1.000 27 0% 61 34.4% 5 40% - - - HMMPfam_DnaJ,HMMSmart_DnaJ,superfamily_DnaJ_N KCNH3 23416 genome.wustl.edu 37 12 49937815 49937815 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012284.1 +1 validated p.A314V 0.992 82 0% 169 39.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 KCNH3 23416 genome.wustl.edu 37 12 49949456 49949456 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012284.1 +1 validated p.E730D 1.000 18 0% 62 33.9% 4 25% probably_damaging(0.989) tolerated(0.08) deleterious(0.740) NULL FAM186B 84070 genome.wustl.edu 37 12 49994802 49994802 + Silent SNP C C T rs188991068 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032130.2 -1 validated p.T207 0.000 107 0% 77 29.9% 2 50% - - - NULL PRPF40B 25766 genome.wustl.edu 37 12 50027856 50027856 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031698.1 +1 provisional p.L243 0.461 38 0% 46 15.2% 17 47% - - - NULL PRPF40B 25766 genome.wustl.edu 37 12 50029727 50029727 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031698.1 +1 provisional p.Q437 1.000 64 0% 94 22.3% 42 35.7% - - - HMMSmart_SM00441,superfamily_FF domain PRPF40B 25766 genome.wustl.edu 37 12 50036426 50036426 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031698.1 +1 provisional p.R674W 1.000 207 0% 197 23.4% 30 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00441,superfamily_FF domain AQP2 359 genome.wustl.edu 37 12 50344872 50344872 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000486.5 +1 reviewed p.A87T 0.178 25 0% 43 37.2% 11 36.3% benign(0) deleterious(0.02) neutral(0.383) HMMPfam_MIP,superfamily_MIP SMARCD1 6602 genome.wustl.edu 37 12 50492748 50492748 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003076.4 +1 reviewed p.E505* 1.000 140 0% 152 34.2% 106 36.7% - - - NULL LIMA1 51474 genome.wustl.edu 37 12 50642471 50642471 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113546.1 -1 validated p.E22* 1.000 166 0% 104 25% 10 40% - - - NULL FAM186A 121006 genome.wustl.edu 37 12 50748371 50748371 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145475.1 -1 provisional p.K748 0.001 268 0% 281 26.3% 0 - - - - NULL FAM186A 121006 genome.wustl.edu 37 12 50748419 50748419 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145475.1 -1 provisional p.I732 0.002 198 0% 187 29.9% 0 - - - - NULL FAM186A 121006 genome.wustl.edu 37 12 50749277 50749277 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145475.1 -1 provisional p.F446L 0.000 163 0% 116 34.5% 0 - benign(0) tolerated(1) - NULL FAM186A 121006 genome.wustl.edu 37 12 50790160 50790160 + Missense_Mutation SNP C C A rs192954167 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145475.1 -1 provisional p.L36F 0.000 180 0% 205 22.9% 0 - possibly_damaging(0.901) deleterious(0.03) deleterious(0.722) NULL ATF1 466 genome.wustl.edu 37 12 51203238 51203238 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005171.3 +1 validated e3-1 1.000 102 0% 86 24.4% 0 - - - - - LETMD1 25875 genome.wustl.edu 37 12 51442916 51442916 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015416.3 +1 validated p.F74L 1.000 130 0% 119 26.1% 23 39.1% possibly_damaging(0.93) tolerated(0.25) neutral(0.413) NULL CSRNP2 81566 genome.wustl.edu 37 12 51467833 51467833 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030809.1 -1 provisional p.R62W 0.985 76 0% 82 39% 22 40.9% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TFCP2 7024 genome.wustl.edu 37 12 51497987 51497987 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005653.4 -1 reviewed e9-1 1.000 167 0% 116 24.1% 0 - - - - - POU6F1 5463 genome.wustl.edu 37 12 51583851 51583851 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026893.1 -1 validated NULL 0.002 8 0.000 14 0.429 6 33.3% - - - - GALNT6 11226 genome.wustl.edu 37 12 51773116 51773116 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007210.3 -1 reviewed p.I150 1.000 92 0% 94 23.4% 5 20% - - - superfamily_SSF53448 SLC4A8 9498 genome.wustl.edu 37 12 51864275 51864275 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039960.1 +1 validated p.L542F 1.000 276 0% 88 13.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp SCN8A 6334 genome.wustl.edu 37 12 52099239 52099239 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014191.2 +1 reviewed p.F391 0.978 266 0% 164 27.4% 1 100% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52100483 52100483 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014191.2 +1 reviewed p.F540S 0.998 104 0% 55 25.5% 1 0% benign(0) tolerated(0.41) neutral(0.015) NULL SCN8A 6334 genome.wustl.edu 37 12 52139729 52139729 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014191.2 +1 reviewed p.L681I 1.000 121 0% 91 29.7% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL SCN8A 6334 genome.wustl.edu 37 12 52180386 52180386 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014191.2 +1 reviewed p.L1335F 1.000 113 0% 86 18.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NR4A1 3164 genome.wustl.edu 37 12 52450944 52450944 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002135.3 +1 reviewed p.A421V 1.000 59 0% 119 28.6% 30 53.3% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain KRT85 3891 genome.wustl.edu 37 12 52756211 52756211 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002283.3 -1 reviewed p.G374 0.019 39 0% 77 22.1% 0 - - - - HMMPfam_Filament KRT6B 3854 genome.wustl.edu 37 12 52842644 52842644 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005555.3 -1 reviewed p.I395 0.754 246 0% 261 35.2% 0 - - - - HMMPfam_Filament KRT6C 286887 genome.wustl.edu 37 12 52863559 52863559 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173086.4 -1 reviewed p.D440G 1.000 143 0% 149 29.5% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Filament KRT71 112802 genome.wustl.edu 37 12 52941717 52941717 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033448.2 -1 reviewed p.N343S 0.008 162 0% 151 27.8% 0 - benign(0.017) tolerated(0.39) neutral(0.017) HMMPfam_Filament KRT73 319101 genome.wustl.edu 37 12 53005048 53005048 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175068.2 -1 reviewed p.I350 1.000 222 0% 250 30% 0 - - - - HMMPfam_Filament KRT2 3849 genome.wustl.edu 37 12 53039139 53039139 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000423.2 -1 reviewed p.S528 0.206 147 0% 110 10.9% 0 - - - - NULL KRT77 374454 genome.wustl.edu 37 12 53096751 53096751 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175078.2 -1 reviewed p.E156D 0.998 153 0% 169 33.1% 0 - possibly_damaging(0.582) tolerated(0.16) neutral(0.260) NULL KRT78 196374 genome.wustl.edu 37 12 53233608 53233608 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173352.2 -1 reviewed p.K403T 1.000 71 0% 79 30.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Filament TENC1 23371 genome.wustl.edu 37 12 53452835 53452835 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015319.2 +1 reviewed p.S480 0.419 80 0% 116 26.7% 11 18.1% - - - NULL TENC1 23371 genome.wustl.edu 37 12 53457540 53457540 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015319.2 +1 reviewed p.F1378 0.948 99 0% 143 24.5% 26 19.2% - - - HMMSmart_PTB,HMMPfam_PTB,superfamily_SSF50729 IGFBP6 3489 genome.wustl.edu 37 12 53494616 53494616 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002178.2 +1 validated p.S152Y 0.230 66 0% 130 36.2% 14 7.1% possibly_damaging(0.819) deleterious(0.02) deleterious(0.693) superfamily_Thyroglobulin_1 IGFBP6 3489 genome.wustl.edu 37 12 53495877 53495877 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002178.2 +1 validated p.R217W 1.000 33 0% 92 26.1% 12 8.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Thyroglobulin_1,HMMSmart_TY,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin_1 ESPL1 9700 genome.wustl.edu 37 12 53683990 53683990 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012291.4 +1 validated p.Q1745 0.017 85 0% 94 29.8% 18 61.1% - - - HMMPfam_Peptidase_C50 AAAS 8086 genome.wustl.edu 37 12 53714403 53714403 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015665.5 -1 reviewed p.R66I 0.998 135 0% 238 31.1% 64 34.3% probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL PCBP2 5094 genome.wustl.edu 37 12 53862591 53862591 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005016.5 +1 reviewed p.S290Y 1.000 200 0% 199 30.7% 1362 42.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 MAP3K12 7786 genome.wustl.edu 37 12 53880860 53880860 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006301.2 -1 reviewed p.R73* 1.000 73 0% 62 29% 7 42.8% - - - NULL ATF7 11016 genome.wustl.edu 37 12 53926945 53926945 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130059.1 -1 validated p.S231L 1.000 52 0% 29 41.4% 10 10% benign(0.06) tolerated(0.23) neutral(0.045) NULL HOXC12 3228 genome.wustl.edu 37 12 54350318 54350318 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173860.1 +1 reviewed p.L273M 0.999 61 0% 82 29.3% 0 - benign(0.004) tolerated(1) - HMMSmart_HOX,superfamily_Homeodomain_like HOXC10 3226 genome.wustl.edu 37 12 54379758 54379758 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017409.3 +1 reviewed p.D239N 0.992 21 0% 25 36% 11 54.5% probably_damaging(0.979) tolerated(0.4) neutral(0.438) NULL CBX5 23468 genome.wustl.edu 37 12 54645853 54645853 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127321.1 -1 reviewed p.D99A 1.000 245 0% 288 36.8% 15 60% benign(0.009) tolerated(0.5) neutral(0.011) NULL HNRNPA1 3178 genome.wustl.edu 37 12 54675961 54675961 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031157.2 +1 reviewed p.D123Y 1.000 82 0% 114 37.7% 298 40.9% possibly_damaging(0.779) deleterious(0) deleterious(0.736) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NEUROD4 58158 genome.wustl.edu 37 12 55420315 55420315 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021191.2 +1 validated p.V31A 0.984 62 0% 40 17.5% 0 - benign(0) tolerated(0.8) neutral(0.001) NULL NEUROD4 58158 genome.wustl.edu 37 12 55420775 55420775 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021191.2 +1 validated p.E184D 1.000 49 0% 30 16.7% 0 - benign(0.001) tolerated(0.27) neutral(0.034) NULL NEUROD4 58158 genome.wustl.edu 37 12 55420874 55420874 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021191.2 +1 validated p.M217I 1.000 106 0% 88 29.5% 0 - benign(0.005) tolerated(0.16) neutral(0.059) NULL OR9K2 441639 genome.wustl.edu 37 12 55524545 55524545 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005243.1 +1 provisional p.K331N 0.998 56 0% 13 69.2% 0 - benign(0.001) deleterious(0.02) neutral(0.383) superfamily_Family A G protein-coupled receptor-like OR6C74 254783 genome.wustl.edu 37 12 55641164 55641164 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005490.1 +1 provisional p.F31L 0.025 261 0% 261 26.8% 0 - benign(0) tolerated(1) - superfamily_SSF81321 OR6C6 283365 genome.wustl.edu 37 12 55688354 55688354 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005493.1 -1 provisional p.K221N 0.001 110 0% 37 16.2% 0 - possibly_damaging(0.871) tolerated(0.27) neutral(0.372) HMMPfam_7tm_1,superfamily_SSF81321 OR6C3 254786 genome.wustl.edu 37 12 55726238 55726238 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_054104.1 +1 provisional p.C252G 0.991 213 0% 153 26.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 OR10P1 121130 genome.wustl.edu 37 12 56031183 56031183 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206899.1 +1 provisional p.R170C 0.054 43 0% 43 41.9% 0 - benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 RDH5 5959 genome.wustl.edu 37 12 56115037 56115037 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002905.3 +1 reviewed p.S23 0.000 19 0% 36 30.6% 4 0% - - - NULL MMP19 4327 genome.wustl.edu 37 12 56234912 56234912 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002429.4 -1 reviewed p.K94N 0.998 169 0% 160 21.9% 2 0% possibly_damaging(0.937) tolerated(0.11) deleterious(0.655) NULL IKZF4 64375 genome.wustl.edu 37 12 56429076 56429076 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022465.3 +1 validated p.F573L 1.000 58 0% 61 24.6% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00355 ERBB3 2065 genome.wustl.edu 37 12 56482577 56482577 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001982.2 +1 reviewed p.S345L 0.999 105 0% 115 23.5% 17 35.2% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) superfamily_L domain-like ZC3H10 84872 genome.wustl.edu 37 12 56514922 56514922 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032786.1 +1 provisional p.I192 0.966 39 0% 55 41.8% 9 33.3% - - - NULL ESYT1 23344 genome.wustl.edu 37 12 56522299 56522299 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015292.2 +1 validated p.I66V 1.000 251 0% 382 30.6% 32 37.5% benign(0) tolerated(0.66) neutral(0.003) NULL SMARCC2 6601 genome.wustl.edu 37 12 56565694 56565694 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003075.3 -1 reviewed p.N621H 1.000 28 0% 57 33.3% 62 33.8% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding ANKRD52 283373 genome.wustl.edu 37 12 56641862 56641862 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173595.3 -1 validated p.G641 0.485 32 0% 55 34.5% 36 38.8% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK GLS2 27165 genome.wustl.edu 37 12 56874126 56874126 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013267.2 -1 reviewed p.L76 0.971 120 0% 153 30.7% 1 0% - - - NULL BAZ2A 11176 genome.wustl.edu 37 12 57004263 57004263 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013449.3 -1 validated p.R572Q 1.000 64 0% 63 33.3% 12 50% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain NACA 4666 genome.wustl.edu 37 12 57112936 57112936 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113203.1 -1 validated p.S793Y 0.001 71 0% 65 32.3% 0 - unknown(0) - - NULL NACA 4666 genome.wustl.edu 37 12 57114367 57114367 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113203.1 -1 validated p.S316Y 0.022 111 0% 79 27.8% 1 100% unknown(0) tolerated(0.15) - NULL MYO1A 4640 genome.wustl.edu 37 12 57437788 57437788 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005379.2 -1 reviewed e9-1 0.992 148 0% 84 35.7% 0 - - - - - TMEM194A 23306 genome.wustl.edu 37 12 57454642 57454642 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130963.1 -1 validated p.R356Q 0.822 169 0% 75 33.3% 8 37.5% benign(0.055) tolerated(0.76) neutral(0.005) HMMPfam_DUF2215 GLI1 2735 genome.wustl.edu 37 12 57858600 57858600 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005269.2 +1 reviewed p.R113Q 1.000 120 0% 165 34.5% 2 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL GLI1 2735 genome.wustl.edu 37 12 57861838 57861838 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005269.2 +1 reviewed p.R380Q 0.996 25 0% 45 26.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GLI1 2735 genome.wustl.edu 37 12 57865427 57865427 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005269.2 +1 reviewed p.S968 0.488 50 2% 69 24.6% 2 0% - - - NULL ARHGAP9 64333 genome.wustl.edu 37 12 57867453 57867453 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032496.2 -1 reviewed p.E653* 0.981 189 0% 338 34.6% 19 0% - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP MARS 4141 genome.wustl.edu 37 12 57910042 57910042 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004990.2 +1 reviewed p.P826 0.822 83 0% 186 38.2% 213 45% - - - NULL KIF5A 3798 genome.wustl.edu 37 12 57957931 57957931 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004984.2 +1 reviewed p.R111Q 1.000 78 0% 58 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF5A 3798 genome.wustl.edu 37 12 57965952 57965952 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004984.2 +1 reviewed p.L491M 0.998 97 0% 69 26.1% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL DTX3 196403 genome.wustl.edu 37 12 58000666 58000666 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000413885 +1 known e2-1 1.000 33 0% 73 24.7% 35 28.5% - - - - DTX3 196403 genome.wustl.edu 37 12 58001180 58001180 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000413885 +1 known p.E181D 1.000 19 0% 48 29.2% 24 25% benign(0.013) tolerated(0.15) neutral(0.241) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 ENSG00000247039 0 genome.wustl.edu 37 12 58013886 58013886 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000501036 -1 known NULL 0.002 41 0% 47 34% 0 - - - - - ENSG00000247039 0 genome.wustl.edu 37 12 58014652 58014652 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000501036 -1 known NULL 0.000 22 0% 38 31.6% 1 0% - - - - TSFM 10102 genome.wustl.edu 37 12 58190019 58190019 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005726.5 +1 reviewed p.F211I 0.995 43 0% 68 11.8% 72 18% benign(0.002) tolerated(0.8) neutral(0.001) HMMPfam_EF_TS,superfamily_Elongation factor Ts (EF-Ts) dimerisation domain SLC16A7 9194 genome.wustl.edu 37 12 60168775 60168775 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004731.3 +1 provisional p.V233 0.598 120 0% 32 18.8% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ENSG00000250314 0 genome.wustl.edu 37 12 63398388 63398388 + RNA SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000514535 -1 known NULL 0.617 26 0% 29 41.4% 0 - - - - - DPY19L2 283417 genome.wustl.edu 37 12 63991612 63991612 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173812.4 -1 validated p.E480* 0.973 56 0% 66 28.8% 0 - - - - HMMPfam_DUF2211 DPY19L2 283417 genome.wustl.edu 37 12 64017824 64017824 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173812.4 -1 validated p.L317I 0.997 70 0% 40 35% 0 - probably_damaging(0.986) tolerated(0.32) neutral(0.459) HMMPfam_DUF2211 TMEM5 10329 genome.wustl.edu 37 12 64202701 64202701 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014254.1 +1 provisional p.K387N 0.994 99 0% 46 26.1% 12 50% possibly_damaging(0.741) deleterious(0.04) deleterious(0.621) NULL SRGAP1 57522 genome.wustl.edu 37 12 64456706 64456706 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020762.2 +1 validated p.L271I 1.000 129 0% 93 29% 0 - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL SRGAP1 57522 genome.wustl.edu 37 12 64480785 64480785 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020762.2 +1 validated p.R472I 1.000 202 0% 83 28.9% 1 0% benign(0.148) deleterious(0.02) neutral(0.396) NULL SRGAP1 57522 genome.wustl.edu 37 12 64491125 64491125 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020762.2 +1 validated p.E595* 1.000 97 0% 86 39.5% 0 - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP XPOT 11260 genome.wustl.edu 37 12 64815202 64815202 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007235.3 +1 reviewed p.S344Y 1.000 164 0% 103 24.3% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold XPOT 11260 genome.wustl.edu 37 12 64829443 64829443 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007235.3 +1 reviewed p.H908N 1.000 217 0% 101 24.8% 71 36.6% benign(0.001) tolerated(0.31) neutral(0.027) NULL TBK1 29110 genome.wustl.edu 37 12 64858221 64858221 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013254.2 +1 reviewed p.F112L 1.000 328 0% 193 36.8% 11 54.5% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TBK1 29110 genome.wustl.edu 37 12 64875650 64875650 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013254.2 +1 reviewed p.L281I 1.000 106 0% 42 26.2% 11 54.5% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) GNS 2799 genome.wustl.edu 37 12 65137006 65137006 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002076.3 -1 reviewed p.S236L 0.999 104 0% 74 35.1% 58 5.1% possibly_damaging(0.595) deleterious(0.01) deleterious(0.612) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core IRAK3 11213 genome.wustl.edu 37 12 66638338 66638338 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007199.2 +1 reviewed p.H320 0.170 97 0% 107 35.5% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HELB 92797 genome.wustl.edu 37 12 66703945 66703945 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033647.2 +1 reviewed p.E413* 0.944 85 0% 65 36.9% 0 - - - - NULL CAND1 55832 genome.wustl.edu 37 12 67696164 67696164 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018448.3 +1 validated p.A354 0.953 120 0% 40 32.5% 132 46.2% - - - superfamily_ARM repeat MDM1 56890 genome.wustl.edu 37 12 68710012 68710012 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017440.4 -1 reviewed p.A343S 1.000 135 0% 62 30.6% 8 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MDM1 56890 genome.wustl.edu 37 12 68715320 68715320 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017440.4 -1 reviewed p.K297I 1.000 396 0% 258 30.2% 5 80% possibly_damaging(0.906) deleterious(0.02) deleterious(0.742) NULL MDM1 56890 genome.wustl.edu 37 12 68716947 68716947 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017440.4 -1 reviewed p.R236I 1.000 312 0% 198 38.9% 4 25% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL NUP107 57122 genome.wustl.edu 37 12 69109464 69109464 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020401.2 +1 reviewed p.E343* 1.000 223 0% 106 25.5% 20 5% - - - HMMPfam_Nup84_Nup100 CPM 1368 genome.wustl.edu 37 12 69252802 69252802 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005502.2 -1 reviewed p.V330 0.993 190 0% 84 27.4% 11 18.1% - - - HMMSmart_Zn_pept,superfamily_CarboxypepD_reg CPSF6 11052 genome.wustl.edu 37 12 69651608 69651608 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007007.2 +1 validated p.R206H 1.000 108 0% 69 42% 93 41.9% unknown(0) tolerated(0.13) - superfamily_RNA-binding domain RBD CCT2 10576 genome.wustl.edu 37 12 69985881 69985881 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006431.2 +1 reviewed p.R231Q 1.000 117 0% 130 32.3% 44 9% possibly_damaging(0.786) deleterious(0.01) deleterious(0.700) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like CCT2 10576 genome.wustl.edu 37 12 69991468 69991468 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006431.2 +1 reviewed p.E385* 1.000 129 0% 105 33.3% 182 4.9% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like PTPRB 5787 genome.wustl.edu 37 12 70946664 70946664 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001109754.1 -1 reviewed p.K1760N 1.000 143 0% 66 27.3% 1 0% probably_damaging(0.968) tolerated(0.23) neutral(0.451) HMMSmart_SM00060,superfamily_Fibronectin type III PTPRB 5787 genome.wustl.edu 37 12 70953215 70953215 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001109754.1 -1 reviewed p.R1541H 0.987 116 0% 52 26.9% 2 0% benign(0.011) tolerated(0.58) neutral(0.005) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRR 5801 genome.wustl.edu 37 12 71139848 71139848 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002849.2 -1 reviewed p.E253* 1.000 204 0% 65 20% 0 - - - - NULL TSPAN8 7103 genome.wustl.edu 37 12 71533507 71533507 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004616.2 -1 reviewed p.R82H 0.990 90 2.2% 51 47.1% 4 25% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_Tetraspannin,PatternScan_TM4_1 ZFC3H1 196441 genome.wustl.edu 37 12 72037952 72037952 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144982.4 -1 validated p.R476* 1.000 477 0.2% 352 26.7% 3 33.3% - - - NULL TMEM19 55266 genome.wustl.edu 37 12 72090248 72090248 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018279.3 +1 validated p.N93H 1.000 165 0% 156 33.3% 10 40% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_DUF92 TPH2 121278 genome.wustl.edu 37 12 72332806 72332806 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173353.3 +1 reviewed p.A14T 1.000 107 0% 79 39.2% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL TPH2 121278 genome.wustl.edu 37 12 72372832 72372832 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173353.3 +1 reviewed p.I302 0.830 61 0% 27 44.4% 0 - - - - HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase TPH2 121278 genome.wustl.edu 37 12 72425419 72425419 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173353.3 +1 reviewed p.D473N 1.000 125 0% 96 44.8% 0 - possibly_damaging(0.767) tolerated(0.06) deleterious(0.607) HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase CAPS2 84698 genome.wustl.edu 37 12 75706647 75706647 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032606.3 -1 validated p.M233V 1.000 218 0% 209 14.4% 0 - benign(0.138) deleterious(0) neutral(0.456) NULL CAPS2 84698 genome.wustl.edu 37 12 75710176 75710176 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032606.3 -1 validated p.T188 0.768 265 0% 185 16.2% 4 25% - - - NULL GLIPR1 11010 genome.wustl.edu 37 12 75892747 75892747 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006851.2 +1 reviewed p.L264I 0.000 156 0% 75 20% 14 14.2% benign(0.238) tolerated(0.28) neutral(0.056) NULL NAP1L1 4673 genome.wustl.edu 37 12 76447595 76447595 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004537.4 -1 reviewed p.S242F 1.000 169 0% 102 31.4% 344 48.2% possibly_damaging(0.776) deleterious(0.03) deleterious(0.654) HMMPfam_NAP E2F7 144455 genome.wustl.edu 37 12 77449698 77449698 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203394.2 -1 validated p.E102D 1.000 195 0% 142 27.5% 3 100% probably_damaging(0.958) tolerated(0.2) neutral(0.451) NULL NAV3 89795 genome.wustl.edu 37 12 78392174 78392174 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014903.4 +1 validated p.A266 0.992 67 0% 83 38.6% 0 - - - - NULL NAV3 89795 genome.wustl.edu 37 12 78513083 78513083 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014903.4 +1 validated p.R1036I 1.000 62 0% 51 45.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NAV3 89795 genome.wustl.edu 37 12 78562559 78562559 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014903.4 +1 validated p.E1632* 1.000 62 0% 28 17.9% 1 0% - - - NULL NAV3 89795 genome.wustl.edu 37 12 78582402 78582402 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014903.4 +1 validated p.R1945Q 1.000 99 0% 51 37.3% 0 - probably_damaging(0.997) tolerated(0.24) deleterious(0.504) NULL NAV3 89795 genome.wustl.edu 37 12 78591179 78591179 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014903.4 +1 validated p.K2126N 1.000 182 0% 48 27.1% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases NAV3 89795 genome.wustl.edu 37 12 78604280 78604280 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014903.4 +1 validated p.L2359I 1.000 70 0% 32 31.2% 0 - benign(0.253) tolerated(0.16) neutral(0.085) NULL LOC338756 338756 genome.wustl.edu 37 12 79952698 79952698 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001714544.1 +1 model p.S83Y 0.155 9 0.000 20 0.250 0 - - - - NULL LOC338756 338756 genome.wustl.edu 37 12 79952852 79952852 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001714544.1 +1 model p.F134L 0.062 5 0.000 14 0.357 0 - - - - NULL PPP1R12A 4659 genome.wustl.edu 37 12 80226210 80226210 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143885.1 -1 reviewed p.Q183H 1.000 135 0% 59 28.8% 9 44.4% benign(0.158) tolerated(0.06) neutral(0.337) superfamily_Ankyrin repeat OTOGL 283310 genome.wustl.edu 37 12 80623116 80623116 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343203.1 +1 model p.E131G 1.000 290 0% 145 30.3% 0 - probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80626673 80626673 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343203.1 +1 model p.L146V 1.000 98 0% 52 38.5% 0 - benign(0.044) tolerated(0.82) neutral(0.003) HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80650220 80650220 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343203.1 +1 model p.N505S 1.000 119 0% 131 32.8% 0 - benign(0.02) tolerated(0.19) neutral(0.051) HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80749675 80749675 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343203.1 +1 model p.E1815A 1.000 114 0% 61 26.2% 0 - possibly_damaging(0.467) deleterious(0.01) deleterious(0.559) NULL PTPRQ 374462 genome.wustl.edu 37 12 80878349 80878349 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000266688 +1 known p.I442L 0.013 87 0% 57 31.6% 0 - benign(0) tolerated(0.51) neutral(0.009) HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 81007564 81007564 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145026.1 +1 validated p.S1554L 0.373 80 0% 33 30.3% 0 - - - - NULL PTPRQ 374462 genome.wustl.edu 37 12 81026024 81026024 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000266688 +1 known p.I1914V 1.000 238 0% 99 36.4% 0 - benign(0.003) tolerated(0.69) neutral(0.002) NULL PTPRQ 374462 genome.wustl.edu 37 12 81062886 81062886 + Nonsense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000266688 +1 known p.L2098* 1.000 101 0% 34 44.1% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II MYF6 4618 genome.wustl.edu 37 12 81101537 81101537 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002469.2 +1 reviewed p.F13L 1.000 95 0% 178 38.2% 0 - possibly_damaging(0.882) deleterious(0) deleterious(0.789) HMMPfam_Basic,HMMSmart_SM00520 MYF6 4618 genome.wustl.edu 37 12 81101837 81101837 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002469.2 +1 reviewed p.F113 1.000 35 0% 65 29.2% 0 - - - - HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain MYF6 4618 genome.wustl.edu 37 12 81101898 81101898 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002469.2 +1 reviewed p.L134M 1.000 23 0% 53 26.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain MYF5 4617 genome.wustl.edu 37 12 81110959 81110959 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005593.2 +1 validated p.F39 0.998 20 0% 21 33.3% 0 - - - - HMMPfam_Basic,HMMSmart_BASIC PPFIA2 8499 genome.wustl.edu 37 12 81839369 81839369 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003625.2 -1 reviewed p.S179Y 1.000 162 0% 150 36.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PPFIA2 8499 genome.wustl.edu 37 12 81851557 81851557 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003625.2 -1 reviewed p.R131I 1.000 416 0% 113 25.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SLC6A15 55117 genome.wustl.edu 37 12 85255518 85255518 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182767.4 -1 validated p.R696* 0.998 132 0% 51 41.2% 0 - - - - NULL SLC6A15 55117 genome.wustl.edu 37 12 85285873 85285873 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182767.4 -1 validated p.K9N 1.000 226 0% 169 35.5% 0 - possibly_damaging(0.898) deleterious(0.01) deleterious(0.760) NULL SLC6A15 55117 genome.wustl.edu 37 12 85285892 85285892 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182767.4 -1 validated p.K3T 1.000 206 0% 151 11.9% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL LRRIQ1 84125 genome.wustl.edu 37 12 85492274 85492274 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079910.1 +1 validated p.E1010G 0.998 142 0% 33 42.4% 0 - benign(0.002) tolerated(0.13) neutral(0.253) superfamily_RNI-like MGAT4C 25834 genome.wustl.edu 37 12 86373347 86373347 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013244.3 -1 validated p.P386Q 1.000 81 0% 36 36.1% 0 - possibly_damaging(0.948) deleterious(0) deleterious(0.836) NULL MGAT4C 25834 genome.wustl.edu 37 12 86373944 86373944 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013244.3 -1 validated p.R187I 1.000 76 0% 35 34.3% 0 - benign(0.325) tolerated(0.05) neutral(0.447) HMMPfam_Glyco_transf_54 C12orf29 91298 genome.wustl.edu 37 12 88436685 88436685 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009894.2 +1 validated p.E98* 0.962 81 0% 62 25.8% 5 20% - - - NULL CEP290 80184 genome.wustl.edu 37 12 88505548 88505548 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025114.3 -1 reviewed p.E714* 1.000 135 0% 130 35.4% 1 0% - - - NULL TMTC3 160418 genome.wustl.edu 37 12 88547113 88547113 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181783.3 +1 reviewed p.R79C 1.000 133 0% 94 30.9% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP2B1 490 genome.wustl.edu 37 12 89985005 89985005 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001682.2 -1 reviewed p.S1140L 1.000 137 0% 67 22.4% 25 36% benign(0.001) deleterious(0.03) neutral(0.364) NULL ATP2B1 490 genome.wustl.edu 37 12 89997957 89997957 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001682.2 -1 reviewed p.A870D 1.000 159 0% 44 9.1% 29 20.6% probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_SSF81665 DCN 1634 genome.wustl.edu 37 12 91558441 91558441 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001920.3 -1 reviewed p.Q89* 1.000 243 0% 173 30.6% 73 0% - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like PLEKHG7 440107 genome.wustl.edu 37 12 93155550 93155550 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004330.2 +1 validated p.V241 0.978 221 0% 125 30.4% 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 EEA1 8411 genome.wustl.edu 37 12 93175873 93175873 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003566.3 -1 validated p.L1063F 1.000 136 0% 43 30.2% 1 100% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL EEA1 8411 genome.wustl.edu 37 12 93205117 93205117 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003566.3 -1 validated p.E713* 1.000 76 0% 60 25% 1 0% - - - NULL EEA1 8411 genome.wustl.edu 37 12 93226419 93226419 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003566.3 -1 validated p.Q375K 0.833 169 0% 310 34.5% 2 50% probably_damaging(0.973) tolerated(0.19) neutral(0.464) NULL UBE2N 7334 genome.wustl.edu 37 12 93805035 93805035 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003348.3 -1 reviewed p.K24R 1.000 74 0% 35 31.4% 161 46.5% possibly_damaging(0.582) tolerated(0.07) deleterious(0.519) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like PLXNC1 10154 genome.wustl.edu 37 12 94562938 94562938 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005761.1 +1 provisional p.D358N 0.001 153 0% 97 34% 10 60% benign(0.001) tolerated(0.54) neutral(0.007) superfamily_Sema PLXNC1 10154 genome.wustl.edu 37 12 94676100 94676100 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005761.1 +1 provisional p.E1268K 1.000 62 0% 50 50% 12 66.6% benign(0.067) deleterious(0.04) neutral(0.353) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl CCDC41 51134 genome.wustl.edu 37 12 94703806 94703806 + Missense_Mutation SNP C C T rs192349282 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042399.1 -1 validated p.R630Q 1.000 224 0% 49 30.6% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMCC3 57458 genome.wustl.edu 37 12 94965272 94965272 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020698.2 -1 validated p.I458R 0.793 106 0% 83 28.9% 2 0% possibly_damaging(0.906) deleterious(0.02) deleterious(0.742) HMMPfam_Tmemb_cc2 FGD6 55785 genome.wustl.edu 37 12 95604559 95604559 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018351.3 -1 validated p.K167N 0.013 230 0% 236 33.1% 3 66.6% benign(0.344) deleterious(0) deleterious(0.553) NULL VEZT 55591 genome.wustl.edu 37 12 95656699 95656699 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017599.3 +1 validated p.L92 0.796 101 0% 72 34.7% 17 29.4% - - - NULL USP44 84101 genome.wustl.edu 37 12 95912036 95912036 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042403.1 -1 validated p.R678Q 1.000 93 0% 61 31.1% 2 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Cysteine proteinases USP44 84101 genome.wustl.edu 37 12 95927233 95927233 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042403.1 -1 validated p.I267T 0.010 233 0% 161 28% 0 - benign(0) tolerated(0.45) neutral(0.012) superfamily_Cysteine proteinases CCDC38 120935 genome.wustl.edu 37 12 96312708 96312708 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182496.2 -1 validated p.I28 0.990 299 0% 195 26.7% 0 - - - - NULL AMDHD1 144193 genome.wustl.edu 37 12 96346512 96346512 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152435.2 +1 validated p.A52V 1.000 163 0% 231 28.6% 0 - benign(0.062) tolerated(0.51) neutral(0.013) superfamily_Composite domain of metallo-dependent hydrolases AMDHD1 144193 genome.wustl.edu 37 12 96346553 96346553 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152435.2 +1 validated p.E66* 0.948 181 0% 225 12.4% 0 - - - - superfamily_Composite domain of metallo-dependent hydrolases HAL 3034 genome.wustl.edu 37 12 96387243 96387243 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002108.2 -1 reviewed p.R192H 0.991 97 0% 131 33.6% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_PAL,superfamily_L-Aspartase-like HAL 3034 genome.wustl.edu 37 12 96387603 96387603 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002108.2 -1 reviewed p.I166M 1.000 221 0% 284 34.9% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_PAL,superfamily_L-Aspartase-like C12orf63 374467 genome.wustl.edu 37 12 97051678 97051678 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198520.2 +1 validated p.E132K 1.000 119 0% 43 32.6% 0 - unknown(0) tolerated(0.15) - NULL C12orf63 374467 genome.wustl.edu 37 12 97147573 97147573 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198520.2 +1 validated p.S1004 0.001 174 0% 66 27.3% 0 - - - - NULL C12orf63 374467 genome.wustl.edu 37 12 97150278 97150278 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198520.2 +1 validated p.S1053I 0.000 167 0% 71 14.1% 0 - unknown(0) tolerated(0.17) - NULL NEDD1 121441 genome.wustl.edu 37 12 97339584 97339584 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135175.1 +1 validated p.R597S 0.991 156 0% 52 36.5% 21 19% benign(0.271) tolerated(0.57) neutral(0.035) NULL ENSG00000206899 0 genome.wustl.edu 37 12 98115580 98115580 + RNA SNP C C T rs186124988 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384172 +1 known NULL 0.010 100 0% 153 19.6% 2 0% - - - - ENSG00000227825 0 genome.wustl.edu 37 12 98849267 98849267 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000370696 -1 known p.E211K 0.151 102 0% 136 37.5% 0 - - - - NULL SLC25A3 5250 genome.wustl.edu 37 12 98992403 98992403 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005888.3 +1 reviewed p.R189Q 1.000 108 0% 166 30.1% 819 42.3% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr IKBIP 121457 genome.wustl.edu 37 12 99007832 99007832 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201612.1 -1 provisional p.S195Y 0.972 117 0% 92 37% 2 0% possibly_damaging(0.887) deleterious(0.02) deleterious(0.730) NULL IKBIP 121457 genome.wustl.edu 37 12 99020288 99020288 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153687.2 -1 provisional p.T185I 1.000 272 0% 206 31.6% 2 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL IKBIP 121457 genome.wustl.edu 37 12 99020388 99020388 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153687.2 -1 provisional p.F152L 1.000 170 0% 111 39.6% 3 66.6% probably_damaging(0.985) tolerated(1) neutral(0.432) NULL APAF1 317 genome.wustl.edu 37 12 99052985 99052985 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181861.1 +1 reviewed p.K192E 1.000 156 0% 262 23.3% 2 50% possibly_damaging(0.902) tolerated(0.28) neutral(0.388) HMMPfam_NB-ARC,superfamily_WD40 repeat-like,superfamily_P-loop containing nucleoside triphosphate hydrolases APAF1 317 genome.wustl.edu 37 12 99074172 99074172 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181861.1 +1 reviewed p.K680Q 1.000 120 0% 168 32.7% 3 66.6% probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 APAF1 317 genome.wustl.edu 37 12 99102435 99102435 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181861.1 +1 reviewed p.E932* 1.000 200 0% 115 25.2% 4 25% - - - NULL ANKS1B 56899 genome.wustl.edu 37 12 99225903 99225903 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152788.3 -1 validated p.I930 1.000 85 0% 51 23.5% 1 0% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain ANKS1B 56899 genome.wustl.edu 37 12 100048893 100048893 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152788.3 -1 validated p.L408F 0.976 201 0% 99 31.3% 1 100% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL ANKS1B 56899 genome.wustl.edu 37 12 100166798 100166798 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152788.3 -1 validated p.S344P 1.000 243 0% 184 27.7% 3 33.3% benign(0.088) tolerated(0.72) neutral(0.008) NULL UHRF1BP1L 23074 genome.wustl.edu 37 12 100444974 100444974 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015054.1 -1 validated p.N1150K 0.453 169 0% 88 40.9% 11 45.4% benign(0.053) tolerated(0.23) neutral(0.045) NULL DEPDC4 120863 genome.wustl.edu 37 12 100657537 100657537 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152317.2 -1 provisional p.D98N 0.997 106 0% 244 28.3% 4 50% probably_damaging(1) deleterious(0.03) deleterious(0.865) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" SLC17A8 246213 genome.wustl.edu 37 12 100784812 100784812 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139319.2 +1 reviewed p.G130S 1.000 249 0% 77 11.7% 0 - unknown(0) tolerated(0.23) - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC17A8 246213 genome.wustl.edu 37 12 100813706 100813706 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139319.2 +1 reviewed p.E513D 1.000 70 0% 59 30.5% 0 - possibly_damaging(0.45) deleterious(0.01) deleterious(0.553) superfamily_MFS general substrate transporter NR1H4 9971 genome.wustl.edu 37 12 100930756 100930756 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005123.2 +1 provisional p.F284V 1.000 67 0% 36 30.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Nuclear receptor ligand-binding domain ANO4 121601 genome.wustl.edu 37 12 101333162 101333162 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178826.3 +1 validated p.S42Y 1.000 203 0% 86 32.6% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ANO4 121601 genome.wustl.edu 37 12 101436146 101436146 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178826.3 +1 validated p.A317P 1.000 160 0% 127 19.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ANO4 121601 genome.wustl.edu 37 12 101510552 101510552 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178826.3 +1 validated p.S814L 1.000 160 0% 85 23.5% 2 0% benign(0.01) tolerated(0.35) neutral(0.021) HMMPfam_DUF590 SLC5A8 160728 genome.wustl.edu 37 12 101555755 101555755 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145913.3 -1 validated p.T543P 0.997 94 0% 62 41.9% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL UTP20 27340 genome.wustl.edu 37 12 101727147 101727147 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014503.2 +1 validated p.I1162 1.000 136 0% 87 29.9% 3 33.3% - - - superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101750395 101750395 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014503.2 +1 validated p.R1820* 1.000 103 0% 69 31.9% 9 11.1% - - - superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101761709 101761709 + Silent SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014503.2 +1 validated p.P2113 0.678 188 0.5% 136 22.8% 18 72.2% - - - superfamily_ARM repeat SPIC 121599 genome.wustl.edu 37 12 101873448 101873448 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152323.1 +1 provisional p.P62 0.001 95 0% 74 29.7% 1 0% - - - NULL SPIC 121599 genome.wustl.edu 37 12 101876591 101876591 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152323.1 +1 provisional p.F78V 0.319 149 0% 108 20.4% 0 - benign(0.059) tolerated(0.45) neutral(0.016) NULL SPIC 121599 genome.wustl.edu 37 12 101876620 101876620 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152323.1 +1 provisional p.Q87H 0.980 153 0% 112 41.1% 0 - possibly_damaging(0.837) tolerated(0.09) deleterious(0.616) NULL MYBPC1 4604 genome.wustl.edu 37 12 102030482 102030482 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002465.2 +1 validated p.D214G 1.000 137 0.7% 191 42.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MYBPC1 4604 genome.wustl.edu 37 12 102071104 102071104 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002465.2 +1 validated p.S1014Y 1.000 167 0% 110 34.5% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III GNPTAB 79158 genome.wustl.edu 37 12 102158198 102158198 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024312.4 -1 reviewed p.E833* 0.002 303 0% 169 34.3% 5 0% - - - NULL GNPTAB 79158 genome.wustl.edu 37 12 102174052 102174052 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024312.4 -1 reviewed p.E217* 1.000 294 0% 95 26.3% 4 0% - - - NULL C12orf73 728568 genome.wustl.edu 37 12 104345308 104345308 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135570.1 -1 validated p.L70R 0.000 235 0% 253 35.6% 16 37.5% possibly_damaging(0.88) deleterious(0) deleterious(0.788) NULL GLT8D2 83468 genome.wustl.edu 37 12 104396965 104396965 + Missense_Mutation SNP C C T rs181331226 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031302.3 -1 provisional p.A78T 0.999 137 0% 57 28.1% 6 0% possibly_damaging(0.79) deleterious(0.02) deleterious(0.679) HMMPfam_Glyco_transf_8,superfamily_SSF53448 GLT8D2 83468 genome.wustl.edu 37 12 104396981 104396981 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031302.3 -1 provisional p.I72 1.000 153 0% 69 33.3% 1 0% - - - HMMPfam_Glyco_transf_8,superfamily_SSF53448 EID3 493861 genome.wustl.edu 37 12 104698016 104698016 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008394.1 +1 provisional p.E102* 0.999 102 0% 157 30.6% 2 100% - - - HMMPfam_Nse4 ENSG00000179821 0 genome.wustl.edu 37 12 105371177 105371177 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000312876 -1 known p.K204N 1.000 13 0% 18 38.9% 0 - - - - HMMPfam_Filament KIAA1033 23325 genome.wustl.edu 37 12 105534678 105534678 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015275.1 +1 validated p.K521R 1.000 97 0% 37 40.5% 8 37.5% probably_damaging(0.991) tolerated(0.22) deleterious(0.486) NULL KIAA1033 23325 genome.wustl.edu 37 12 105546151 105546151 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015275.1 +1 validated p.R894* 1.000 89 0% 40 30% 7 14.2% - - - NULL APPL2 55198 genome.wustl.edu 37 12 105569833 105569833 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018171.3 -1 validated p.E614* 1.000 146 0% 75 25.3% 10 50% - - - superfamily_SSF50729 APPL2 55198 genome.wustl.edu 37 12 105570747 105570747 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018171.3 -1 validated p.K573N 1.000 178 0% 85 28.2% 11 9% benign(0.25) tolerated(0.12) neutral(0.286) HMMPfam_PID,superfamily_SSF50729 NUAK1 9891 genome.wustl.edu 37 12 106532359 106532359 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014840.2 -1 validated p.E25* 0.651 19 0% 27 40.7% 5 60% - - - NULL CKAP4 10970 genome.wustl.edu 37 12 106632898 106632898 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006825.3 -1 validated p.E571 0.987 68 0% 146 24% 264 48.1% - - - NULL TCP11L2 255394 genome.wustl.edu 37 12 106729822 106729822 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152772.1 +1 provisional p.D325N 1.000 60 0% 34 35.3% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tcp11 RIC8B 55188 genome.wustl.edu 37 12 107236590 107236590 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018157.2 +1 validated p.D354Y 1.000 114 0% 55 23.6% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM-type_fold,HMMPfam_Ric8 MTERFD3 80298 genome.wustl.edu 37 12 107372085 107372085 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033050.1 -1 validated p.F136L 1.000 95 0% 73 27.4% 4 75% probably_damaging(0.999) tolerated(0.2) deleterious(0.539) HMMPfam_mTERF,HMMSmart_Mterf PRDM4 11108 genome.wustl.edu 37 12 108145733 108145733 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012406.3 -1 reviewed p.E195D 1.000 105 0% 98 21.4% 27 37% benign(0.39) tolerated(0.23) neutral(0.167) NULL WSCD2 9671 genome.wustl.edu 37 12 108634209 108634209 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014653.2 +1 validated p.F411 1.000 50 0% 29 31% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases WSCD2 9671 genome.wustl.edu 37 12 108642000 108642000 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014653.2 +1 validated p.L526 0.354 44 0% 38 26.3% 9 33.3% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CMKLR1 1240 genome.wustl.edu 37 12 108685972 108685972 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142343.1 -1 validated p.K256N 1.000 148 0% 114 40.4% 17 0% benign(0.024) tolerated(0.36) neutral(0.021) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SART3 9733 genome.wustl.edu 37 12 108917356 108917356 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014706.3 -1 reviewed p.S924R 0.001 38 0% 60 40% 96 45.8% possibly_damaging(0.471) deleterious(0.04) deleterious(0.504) NULL CORO1C 23603 genome.wustl.edu 37 12 109072163 109072163 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014325.2 -1 reviewed p.R68Q 1.000 58 0% 40 22.5% 66 27.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like ACACB 32 genome.wustl.edu 37 12 109577850 109577850 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001093.3 +1 reviewed p.V214I 0.000 38 0% 34 23.5% 0 - benign(0.011) tolerated(0.13) neutral(0.253) NULL ACACB 32 genome.wustl.edu 37 12 109629526 109629526 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001093.3 +1 reviewed p.I751 0.200 118 0% 109 34.9% 0 - - - - HMMPfam_Biotin_carb_C,superfamily_Rudiment single hybrid motif ACACB 32 genome.wustl.edu 37 12 109670597 109670597 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001093.3 +1 reviewed p.F1375 0.972 87 0% 78 32.1% 4 25% - - - HMMPfam_ACC_central ACACB 32 genome.wustl.edu 37 12 109673428 109673428 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001093.3 +1 reviewed p.F1474L 1.000 293 0% 250 33.2% 5 60% benign(0.037) tolerated(0.09) neutral(0.298) HMMPfam_ACC_central ACACB 32 genome.wustl.edu 37 12 109692111 109692111 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001093.3 +1 reviewed p.R2046 1.000 177 0% 118 33.1% 5 80% - - - HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase FOXN4 121643 genome.wustl.edu 37 12 109723218 109723218 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_213596.2 -1 validated p.K264N 1.000 95 0% 198 34.3% 0 - unknown(0) - - "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" MMAB 326625 genome.wustl.edu 37 12 110006605 110006605 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052845.3 -1 reviewed p.G87E 1.000 202 0% 289 31.5% 21 52.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cob_adeno_trans,superfamily_Cobalamin adenosyltransferase-like TRPV4 59341 genome.wustl.edu 37 12 110230202 110230202 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021625.4 -1 reviewed p.L619 0.999 42 0% 80 30% 4 50% - - - HMMPfam_Ion_trans TRPV4 59341 genome.wustl.edu 37 12 110231397 110231397 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021625.4 -1 reviewed p.D531E 1.000 53 0% 78 17.9% 3 0% benign(0.351) tolerated(0.49) neutral(0.121) NULL TCHP 84260 genome.wustl.edu 37 12 110352341 110352341 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143852.1 +1 validated p.R410Q 0.000 102 0% 162 32.7% 20 50% benign(0.005) tolerated(0.44) neutral(0.013) NULL GIT2 9815 genome.wustl.edu 37 12 110370918 110370918 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_057169.3 -1 reviewed p.K715N 1.000 109 0% 87 32.2% 12 25% benign(0.019) tolerated(0.37) neutral(0.020) NULL FAM216A 29902 genome.wustl.edu 37 12 110910887 110910887 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013300.2 +1 validated p.A50T 1.000 120 0% 261 26.1% 1 0% possibly_damaging(0.86) - - NULL RAD9B 144715 genome.wustl.edu 37 12 110944442 110944442 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152442.3 +1 validated p.R111I 0.043 139 0% 200 29% 0 - benign(0.282) tolerated(0.16) neutral(0.146) HMMPfam_Rad9,superfamily_DNA clamp PPTC7 160760 genome.wustl.edu 37 12 110976079 110976079 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139283.1 -1 provisional e5-1 1.000 102 0% 98 34.7% 0 - - - - - TCTN1 79600 genome.wustl.edu 37 12 111085118 111085118 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001082538.2 +1 reviewed p.L538I 0.021 158 0% 125 29.6% 12 25% benign(0.044) tolerated(0.54) neutral(0.010) NULL CCDC63 160762 genome.wustl.edu 37 12 111317838 111317838 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152591.1 +1 provisional p.E206D 0.995 98 0% 64 15.6% 0 - benign(0.004) tolerated(0.57) neutral(0.006) NULL CUX2 23316 genome.wustl.edu 37 12 111655705 111655705 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015267.3 +1 validated p.E62D 1.000 45 0% 46 28.3% 0 - benign(0.104) tolerated(0.17) neutral(0.067) NULL ATXN2 6311 genome.wustl.edu 37 12 111926495 111926495 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002973.3 -1 reviewed p.K835N 0.998 201 0% 134 29.9% 21 57.1% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ATXN2 6311 genome.wustl.edu 37 12 111990713 111990713 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002973.3 -1 reviewed p.P299 0.996 148 0% 75 38.7% 6 33.3% - - - superfamily_Sm-like ribonucleoproteins ATXN2 6311 genome.wustl.edu 37 12 111992008 111992008 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002973.3 -1 reviewed p.G261E 1.000 76 0% 39 23.1% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C12orf51 283450 genome.wustl.edu 37 12 112608942 112608942 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001109662.2 -1 validated p.A3549T 0.978 87 0% 139 30.2% 31 9.6% benign(0.017) - - NULL C12orf51 283450 genome.wustl.edu 37 12 112691862 112691862 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000311694 -1 known p.R607Q 0.628 109 0.9% 55 32.7% 5 20% - - - NULL PTPN11 5781 genome.wustl.edu 37 12 112888149 112888149 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002834.3 +1 reviewed p.K55N 1.000 149 0% 105 31.4% 23 47.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain RPH3A 22895 genome.wustl.edu 37 12 113285591 113285591 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143854.1 +1 validated p.I58 1.000 70 0% 46 30.4% 0 - - - - HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger RPH3A 22895 genome.wustl.edu 37 12 113332453 113332453 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143854.1 +1 validated p.E616K 1.000 80 0% 54 29.6% 0 - possibly_damaging(0.609) tolerated(0.1) deleterious(0.497) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) OAS1 4938 genome.wustl.edu 37 12 113346492 113346492 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001032409.1 +1 reviewed p.R111K 0.000 105 0% 61 31.1% 29 24.1% benign(0.003) tolerated(0.31) neutral(0.027) superfamily_Nucleotidyltransferase OAS2 4939 genome.wustl.edu 37 12 113424998 113424998 + Silent SNP G G A rs190356894 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016817.2 +1 reviewed p.T111 0.000 82 0% 51 41.2% 23 52.1% - - - superfamily_Nucleotidyltransferase RASAL1 8437 genome.wustl.edu 37 12 113554958 113554958 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004658.1 -1 reviewed p.F217L 0.969 60 0% 116 36.2% 1 0% possibly_damaging(0.637) tolerated(0.33) neutral(0.247) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) IQCD 115811 genome.wustl.edu 37 12 113645857 113645857 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138451.1 -1 provisional p.L39I 0.810 377 0% 344 28.5% 1 100% benign(0.003) tolerated(0.11) neutral(0.272) NULL LOC100287933 100287933 genome.wustl.edu 37 12 113906345 113906345 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343216.1 +1 model p.K304T 0.001 14 0% 15 40% 0 - - - - NULL RBM19 9904 genome.wustl.edu 37 12 114356212 114356212 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016196.3 -1 reviewed p.S809L 0.993 53 1.9% 48 35.4% 23 39.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_RNA-binding domain RBD RBM19 9904 genome.wustl.edu 37 12 114397071 114397071 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016196.3 -1 reviewed p.D173N 1.000 98 0% 101 38.6% 8 25% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL RBM19 9904 genome.wustl.edu 37 12 114397975 114397975 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016196.3 -1 reviewed p.F76L 0.996 186 0% 148 29.1% 9 44.4% benign(0) tolerated(0.72) neutral(0.002) superfamily_RNA-binding domain RBD TBX5 6910 genome.wustl.edu 37 12 114837376 114837376 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000192.3 -1 reviewed p.L102I 1.000 194 0% 415 30.4% 0 - possibly_damaging(0.762) deleterious(0.02) deleterious(0.665) HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors NOS1 4842 genome.wustl.edu 37 12 117705894 117705894 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000620.2 -1 reviewed p.D632G 1.000 62 0% 46 21.7% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain NOS1 4842 genome.wustl.edu 37 12 117718611 117718611 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000620.2 -1 reviewed p.N481 0.622 43 0% 60 25% 0 - - - - HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain NOS1 4842 genome.wustl.edu 37 12 117768704 117768704 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000620.2 -1 reviewed p.L57 0.995 28 0% 44 18.2% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like RFC5 5985 genome.wustl.edu 37 12 118457550 118457550 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007370.4 +1 reviewed p.E82* 1.000 85 0% 134 32.8% 21 14.2% - - - HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 PEBP1 5037 genome.wustl.edu 37 12 118575870 118575870 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002567.2 +1 validated p.S54 0.002 68 0% 155 33.5% 545 40% - - - HMMPfam_PBP,superfamily_PEBP-like CCDC60 160777 genome.wustl.edu 37 12 119937888 119937888 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178499.3 +1 validated p.P188L 0.952 94 0% 51 41.2% 0 - probably_damaging(0.999) tolerated(1) deleterious(0.490) NULL CIT 11113 genome.wustl.edu 37 12 120148158 120148158 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007174.1 -1 validated p.A1615T 1.000 134 0% 133 29.3% 4 25% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CNH,HMMSmart_SM00036 CIT 11113 genome.wustl.edu 37 12 120150420 120150420 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007174.1 -1 validated p.E1512K 1.000 62 0% 59 32.2% 16 68.7% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CIT 11113 genome.wustl.edu 37 12 120214625 120214625 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007174.1 -1 validated p.E563* 1.000 75 0% 53 35.8% 4 50% - - - NULL CCDC64 92558 genome.wustl.edu 37 12 120499548 120499548 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207311.2 +1 validated p.V227A 1.000 53 0% 68 33.8% 20 40% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL PXN 5829 genome.wustl.edu 37 12 120651760 120651760 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080855.1 -1 validated p.R465H 1.000 50 0% 77 26% 125 33.6% benign(0.101) tolerated(0.12) neutral(0.268) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) COQ5 84274 genome.wustl.edu 37 12 120941430 120941430 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000302223 -1 known p.K218T 0.004 18 0% 15 40% 23 17.3% unknown(0) deleterious(0) - NULL RNF10 9921 genome.wustl.edu 37 12 121000846 121000846 + Silent SNP G G A rs61760870 byCluster;byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014868.4 +1 reviewed p.A409 0.110 180 0% 119 32.8% 241 43.1% - - - NULL RNF34 80196 genome.wustl.edu 37 12 121854123 121854123 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194271.1 +1 reviewed p.E57D 0.993 150 0% 104 25% 19 68.4% benign(0.311) tolerated(0.16) neutral(0.157) superfamily_FYVE/PHD zinc finger KDM2B 84678 genome.wustl.edu 37 12 121880604 121880604 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032590.4 -1 reviewed p.A880 0.000 35 0% 52 36.5% 23 39.1% - - - NULL KDM2B 84678 genome.wustl.edu 37 12 122018742 122018742 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032590.4 -1 reviewed p.K25N 0.044 307 0% 624 31.9% 1 0% possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL DIABLO 56616 genome.wustl.edu 37 12 122692960 122692960 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019887.4 -1 reviewed p.S230P 0.000 123 0% 189 23.8% 151 44.3% benign(0) tolerated(0.23) neutral(0.042) superfamily_Smac/diablo,HMMPfam_Smac_DIABLO CLIP1 6249 genome.wustl.edu 37 12 122825857 122825857 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002956.2 -1 validated p.A621T 0.994 145 0% 123 35.8% 12 25% benign(0.072) tolerated(0.32) neutral(0.029) NULL ZCCHC8 55596 genome.wustl.edu 37 12 122958596 122958596 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017612.2 -1 validated p.Q524H 1.000 109 0% 68 14.7% 31 25.8% possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL HCAR1 27198 genome.wustl.edu 37 12 123214200 123214200 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032554.3 -1 validated p.F229L 0.142 55 1.8% 55 27.3% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCDC62 84660 genome.wustl.edu 37 12 123265730 123265730 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201435.3 +1 validated p.T83 0.996 109 0% 149 35.6% 0 - - - - NULL CCDC62 84660 genome.wustl.edu 37 12 123282687 123282687 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201435.3 +1 validated p.S306Y 1.000 97 0% 112 27.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ABCB9 23457 genome.wustl.edu 37 12 123430707 123430707 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019625.3 -1 reviewed p.I372 1.000 84 0% 159 13.8% 19 5.2% - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB9 23457 genome.wustl.edu 37 12 123434459 123434459 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019625.3 -1 reviewed p.F241 1.000 70 0% 137 32.8% 17 52.9% - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB9 23457 genome.wustl.edu 37 12 123444635 123444635 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019625.3 -1 reviewed p.L50I 1.000 18 0% 28 32.1% 10 70% benign(0.009) tolerated(0.33) neutral(0.025) NULL OGFOD2 79676 genome.wustl.edu 37 12 123461269 123461269 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024623.1 +1 provisional p.A26 0.000 33 0% 72 43.1% 39 46.1% unknown(0) - - NULL CDK2AP1 8099 genome.wustl.edu 37 12 123749831 123749831 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004642.2 -1 reviewed p.A64 0.756 134 0% 250 30.4% 635 48.6% - - - HMMPfam_CDK2AP SBNO1 55206 genome.wustl.edu 37 12 123813290 123813290 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018183.3 -1 validated p.F428 0.998 206 0% 128 35.9% 15 60% - - - NULL DDX55 57696 genome.wustl.edu 37 12 124097762 124097762 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020936.1 +1 reviewed p.R263C 1.000 167 0.6% 195 30.3% 14 57.1% probably_damaging(0.975) tolerated(0.07) deleterious(0.736) superfamily_P-loop containing nucleoside triphosphate hydrolases ATP6V0A2 23545 genome.wustl.edu 37 12 124233273 124233273 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012463.3 +1 reviewed p.E626* 1.000 193 0% 193 31.6% 7 0% - - - HMMPfam_V_ATPase_I DNAH10 196385 genome.wustl.edu 37 12 124268572 124268572 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207437.3 +1 validated p.L299I 0.977 144 0% 155 31.6% 0 - benign(0.045) tolerated(0.2) neutral(0.052) HMMPfam_DHC_N1 DNAH10 196385 genome.wustl.edu 37 12 124333344 124333344 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207437.3 +1 validated p.R1888Q 1.000 211 0% 269 35.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124345714 124345714 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207437.3 +1 validated p.R2184Q 1.000 84 0% 45 42.2% 0 - possibly_damaging(0.941) tolerated(0.12) deleterious(0.647) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124358140 124358140 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207437.3 +1 validated p.T2489 0.020 95 0% 95 33.7% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124393957 124393957 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207437.3 +1 validated p.S3204* 0.110 83 0% 130 33.8% 0 - - - - NULL CCDC92 80212 genome.wustl.edu 37 12 124422354 124422354 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025140.1 -1 provisional p.E83* 0.998 198 0% 338 32.2% 19 42.1% - - - NULL LOC100288312 100288312 genome.wustl.edu 37 12 125397046 125397046 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343222.1 +1 model p.D310Y 1.000 280 0% 383 29.5% 5471 12.4% - - - NULL DHX37 57647 genome.wustl.edu 37 12 125435248 125435248 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032656.2 -1 reviewed p.M991V 1.000 128 0% 197 28.9% 20 45% possibly_damaging(0.643) tolerated(0.23) neutral(0.267) HMMPfam_DUF1605 AACS 65985 genome.wustl.edu 37 12 125613907 125613907 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023928.3 +1 validated p.E484K 1.000 109 0% 151 28.5% 42 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like TMEM132B 114795 genome.wustl.edu 37 12 125834486 125834486 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052907.2 +1 provisional p.G181R 1.000 34 0% 22 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM132B 114795 genome.wustl.edu 37 12 126068523 126068523 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052907.2 +1 provisional p.D469N 0.965 277 0.4% 158 33.5% 0 - probably_damaging(0.992) tolerated(0.49) neutral(0.458) NULL TMEM132B 114795 genome.wustl.edu 37 12 126139061 126139061 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052907.2 +1 provisional p.M1014I 0.000 61 0% 40 30% 0 - benign(0) tolerated(0.28) neutral(0.032) NULL TMEM132C 92293 genome.wustl.edu 37 12 129190804 129190804 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136103.2 +1 provisional p.L985 0.122 28 0% 53 35.8% 5 0% - - - NULL RIMBP2 23504 genome.wustl.edu 37 12 130892338 130892338 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015347.4 -1 validated p.S953L 0.151 72 0% 77 16.9% 0 - - - - superfamily_SH3-domain RIMBP2 23504 genome.wustl.edu 37 12 130897194 130897194 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015347.4 -1 validated p.L931I 1.000 139 0% 163 28.2% 1 0% probably_damaging(0.973) tolerated(0.18) deleterious(0.471) NULL RIMBP2 23504 genome.wustl.edu 37 12 130926553 130926553 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015347.4 -1 validated p.I431 0.845 62 0% 63 27% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RIMBP2 23504 genome.wustl.edu 37 12 130926559 130926559 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015347.4 -1 validated p.F429 0.961 67 0% 69 37.7% 2 50% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MMP17 4326 genome.wustl.edu 37 12 132334477 132334477 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016155.4 +1 reviewed p.F445L 1.000 53 0% 84 32.1% 13 46.1% benign(0.01) tolerated(0.23) neutral(0.042) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 ULK1 8408 genome.wustl.edu 37 12 132391447 132391447 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003565.2 +1 validated p.N86T 0.991 126 0% 352 31% 25 24% benign(0.025) tolerated(0.37) neutral(0.020) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC100288577 100288577 genome.wustl.edu 37 12 132426186 132426186 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343226.1 -1 model p.D56N 0.421 100 0% 174 14.4% 55 20% - - - NULL EP400 57634 genome.wustl.edu 37 12 132446241 132446241 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015409.3 +1 validated p.P359 1.000 180 0% 349 11.2% 4 50% - - - NULL POLE 5426 genome.wustl.edu 37 12 133208906 133208906 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006231.2 -1 validated p.C2109R 1.000 71 0% 118 27.1% 59 30.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL POLE 5426 genome.wustl.edu 37 12 133253184 133253184 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006231.2 -1 validated p.P286R 1.000 100 0% 169 34.3% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold ZNF10 7556 genome.wustl.edu 37 12 133732473 133732473 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015394.4 +1 reviewed p.E214G 0.002 124 0% 72 37.5% 15 80% benign(0.042) deleterious(0.04) neutral(0.351) superfamily_C2H2 and C2HC zinc fingers ZNF10 7556 genome.wustl.edu 37 12 133733106 133733106 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015394.4 +1 reviewed p.R425I 1.000 94 0% 30 36.7% 14 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF268 10795 genome.wustl.edu 37 12 133768135 133768135 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003415.2 +1 validated p.D99Y 0.697 185 0% 114 28.9% 10 30% unknown(0) tolerated(0.07) - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC729535 729535 genome.wustl.edu 37 13 19271319 19271319 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001130539.3 +1 model p.E71K 0.087 56 0% 81 35.8% 25 0% - - - NULL TPTE2 93492 genome.wustl.edu 37 13 19999128 19999128 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199254.2 -1 validated p.P475 0.196 198 0% 99 30.3% 0 - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 TPTE2 93492 genome.wustl.edu 37 13 20048216 20048216 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199254.2 -1 validated e6-1 0.823 76 0% 51 27.5% 0 - - - - - MPHOSPH8 54737 genome.wustl.edu 37 13 20244432 20244432 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017520.3 +1 validated p.A796P 1.000 253 0% 205 30.7% 31 25.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PSPC1 55269 genome.wustl.edu 37 13 20283697 20283697 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042414.1 -1 validated p.A401S 1.000 359 0% 202 28.7% 72 43% possibly_damaging(0.799) tolerated(0.28) neutral(0.333) NULL ZMYM2 7750 genome.wustl.edu 37 13 20577252 20577252 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003453.2 +1 validated p.K370N 1.000 96 0% 38 42.1% 15 73.3% possibly_damaging(0.88) deleterious(0) deleterious(0.788) HMMPfam_zf-FCS GJA3 2700 genome.wustl.edu 37 13 20717020 20717020 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021954.3 -1 reviewed p.R136 0.896 37 0% 55 34.5% 0 - - - - NULL GJB2 2706 genome.wustl.edu 37 13 20763377 20763377 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004004.5 -1 reviewed p.F115C 0.000 133 0% 198 37.9% 9 11.1% benign(0.223) tolerated(0.17) neutral(0.081) HMMPfam_Connexin N6AMT2 221143 genome.wustl.edu 37 13 21306195 21306195 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174928.1 -1 provisional p.S98L 0.040 104 0% 153 33.3% 16 31.2% benign(0.068) tolerated(0.32) neutral(0.029) HMMPfam_DPPF N6AMT2 221143 genome.wustl.edu 37 13 21331664 21331664 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174928.1 -1 provisional p.A25D 1.000 237 0% 230 28.7% 13 53.8% benign(0.006) tolerated(0.28) neutral(0.032) NULL XPO4 64328 genome.wustl.edu 37 13 21383304 21383304 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022459.4 -1 validated p.R471* 1.000 117 0% 53 39.6% 3 0% - - - superfamily_ARM-type_fold XPO4 64328 genome.wustl.edu 37 13 21384066 21384066 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022459.4 -1 validated p.K405T 0.997 118 0.8% 89 40.4% 2 100% benign(0.006) tolerated(0.12) neutral(0.261) superfamily_ARM-type_fold FGF9 2254 genome.wustl.edu 37 13 22275367 22275367 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002010.2 +1 reviewed p.F140 1.000 69 0% 59 39% 0 - - - - HMMPfam_FGF,HMMSmart_SM00442,PatternScan_HBGF_FGF,superfamily_Cytokine SACS 26278 genome.wustl.edu 37 13 23905090 23905090 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014363.4 -1 reviewed p.E4309* 1.000 93 0% 62 27.4% 3 33.3% - - - superfamily_Chaperone J-domain SACS 26278 genome.wustl.edu 37 13 23907160 23907160 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014363.4 -1 reviewed p.E3619K 1.000 72 0% 36 33.3% 4 0% benign(0.028) tolerated(0.36) neutral(0.022) NULL SACS 26278 genome.wustl.edu 37 13 23908582 23908582 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014363.4 -1 reviewed p.E3145* 1.000 27 0% 15 33.3% 0 - - - - NULL SACS 26278 genome.wustl.edu 37 13 23911014 23911014 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014363.4 -1 reviewed p.K2334T 0.981 153 0% 83 30.1% 1 0% benign(0.409) tolerated(0.13) neutral(0.385) NULL SACS 26278 genome.wustl.edu 37 13 23911305 23911305 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014363.4 -1 reviewed p.E2237A 1.000 94 0% 49 32.7% 1 0% benign(0.001) tolerated(0.5) neutral(0.010) NULL SACS 26278 genome.wustl.edu 37 13 23911784 23911784 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014363.4 -1 reviewed p.M2077I 1.000 56 0% 16 37.5% 0 - benign(0.001) tolerated(0.49) neutral(0.011) NULL SACS 26278 genome.wustl.edu 37 13 23914939 23914939 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014363.4 -1 reviewed p.E1026* 1.000 82 0% 43 25.6% 0 - - - - NULL SACS 26278 genome.wustl.edu 37 13 23945280 23945280 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014363.4 -1 reviewed p.D66N 1.000 119 0% 218 32.1% 1 0% benign(0.006) tolerated(0.34) neutral(0.023) superfamily_Ubiquitin-like C1QTNF9B 387911 genome.wustl.edu 37 13 24470983 24470983 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007537.1 -1 provisional p.A48V 0.746 196 0% 300 30.7% 0 - benign(0) tolerated(0.69) neutral(0.002) HMMPfam_Collagen PARP4 143 genome.wustl.edu 37 13 25033257 25033257 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006437.3 -1 reviewed p.F783L 1.000 199 0% 125 38.4% 12 33.3% possibly_damaging(0.456) tolerated(0.26) neutral(0.183) NULL PARP4 143 genome.wustl.edu 37 13 25075782 25075782 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006437.3 -1 reviewed p.A108V 0.000 190 0% 247 39.3% 9 11.1% benign(0.291) tolerated(0.5) neutral(0.099) NULL ATP12A 479 genome.wustl.edu 37 13 25255709 25255709 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001676.5 +1 reviewed p.E7K 0.445 80 0% 155 26.5% 1 0% benign(0.095) deleterious(0.02) neutral(0.390) NULL ATP12A 479 genome.wustl.edu 37 13 25264532 25264532 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001676.5 +1 reviewed p.V201 1.000 92 0% 97 39.2% 0 - - - - HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M ATP12A 479 genome.wustl.edu 37 13 25285645 25285645 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001676.5 +1 reviewed p.K1035N 1.000 226 0% 212 26.4% 0 - benign(0.003) tolerated(0.07) neutral(0.319) NULL RNF17 56163 genome.wustl.edu 37 13 25362131 25362131 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031277.2 +1 reviewed p.K206M 0.998 72 0% 15 26.7% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL RNF17 56163 genome.wustl.edu 37 13 25416216 25416216 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031277.2 +1 reviewed p.F840 0.776 286 0% 133 24.1% 0 - - - - superfamily_Staphylococcal nuclease RNF17 56163 genome.wustl.edu 37 13 25425702 25425702 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031277.2 +1 reviewed p.E1105* 0.997 166 0% 93 22.6% 0 - - - - NULL RNF17 56163 genome.wustl.edu 37 13 25453360 25453360 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031277.2 +1 reviewed p.D1603 0.924 78 0% 61 18% 0 - - - - superfamily_Staphylococcal nuclease MTMR6 9107 genome.wustl.edu 37 13 25842050 25842050 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004685.3 -1 validated p.E57D 1.000 142 0% 162 36.4% 10 30% possibly_damaging(0.841) deleterious(0.02) deleterious(0.705) superfamily_PH domain-like ATP8A2 51761 genome.wustl.edu 37 13 26104729 26104729 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016529.4 +1 validated p.R117 1.000 233 0% 100 24% 0 - - - - NULL ATP8A2 51761 genome.wustl.edu 37 13 26107451 26107451 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016529.4 +1 validated p.E169D 1.000 72 0% 40 22.5% 0 - benign(0.001) tolerated(1) - HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A SHISA2 387914 genome.wustl.edu 37 13 26620688 26620688 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007538.1 -1 provisional p.N284S 0.000 64 0% 97 23.7% 1 0% benign(0) tolerated(0.67) neutral(0.003) NULL CDK8 1024 genome.wustl.edu 37 13 26970475 26970475 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001260.1 +1 reviewed p.D282Y 1.000 56 0% 42 19% 5 40% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase WASF3 10810 genome.wustl.edu 37 13 27241727 27241727 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006646.5 +1 reviewed p.K114N 1.000 73 0% 47 36.2% 2 50% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL GPR12 2835 genome.wustl.edu 37 13 27333332 27333332 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005288.3 -1 validated p.A211 0.821 50 0% 70 35.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like USP12 219333 genome.wustl.edu 37 13 27643492 27643492 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182488.2 -1 provisional p.F347L 1.000 196 0% 135 28.1% 0 - possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) HMMPfam_UCH,superfamily_SSF54001 RPL21 6144 genome.wustl.edu 37 13 27830610 27830610 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000982.3 +1 reviewed p.N144T 1.000 15 0% 29 17.2% 178 34.8% benign(0.046) tolerated(0.26) neutral(0.037) NULL GTF3A 2971 genome.wustl.edu 37 13 28009647 28009647 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002097.2 +1 reviewed p.Q337H 0.000 128 0% 104 9.6% 174 9.1% benign(0.075) tolerated(0.14) neutral(0.255) NULL LNX2 222484 genome.wustl.edu 37 13 28127441 28127441 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153371.3 -1 validated p.A561V 0.134 72 0% 27 18.5% 12 58.3% benign(0.005) tolerated(0.28) neutral(0.032) NULL FLT3 2322 genome.wustl.edu 37 13 28592617 28592617 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004119.2 -1 reviewed p.V843A 0.998 117 0% 91 36.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FLT3 2322 genome.wustl.edu 37 13 28608352 28608352 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004119.2 -1 reviewed e14-1 1.000 159 0% 68 36.8% 0 - - - - - FLT1 2321 genome.wustl.edu 37 13 29004306 29004306 + Splice_Site SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002019.4 -1 reviewed e8-2 1.000 76 0% 42 26.2% 0 - - - - - FLT1 2321 genome.wustl.edu 37 13 29041252 29041252 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002019.4 -1 reviewed p.H59R 0.738 187 0% 89 23.6% 3 0% possibly_damaging(0.608) tolerated(0.07) deleterious(0.529) HMMSmart_SM00409,superfamily_Immunoglobulin POMP 51371 genome.wustl.edu 37 13 29242633 29242633 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015932.4 +1 validated p.M62I 1.000 142 0% 151 31.1% 244 29% benign(0) tolerated(0.55) neutral(0.007) HMMPfam_UMP1 SLC46A3 283537 genome.wustl.edu 37 13 29275670 29275670 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135919.1 -1 validated p.I450M 0.429 175 0% 82 23.2% 4 25% benign(0.071) deleterious(0.04) neutral(0.354) NULL SLC46A3 283537 genome.wustl.edu 37 13 29284946 29284946 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135919.1 -1 validated p.F365L 0.088 94 0% 109 28.4% 6 0% benign(0) tolerated(1) - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC46A3 283537 genome.wustl.edu 37 13 29287108 29287108 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135919.1 -1 validated p.R257* 0.002 75 0% 95 25.3% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter MTUS2 23281 genome.wustl.edu 37 13 29599362 29599362 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033602.2 +1 validated p.S186Y 0.018 52 0% 30 30% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MTUS2 23281 genome.wustl.edu 37 13 29599373 29599373 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033602.2 +1 validated p.A190S 0.008 50 0% 27 33.3% 0 - benign(0.02) tolerated(0.05) neutral(0.346) NULL MTUS2 23281 genome.wustl.edu 37 13 29599907 29599907 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033602.2 +1 validated p.D368N 0.000 40 0% 30 16.7% 0 - benign(0) tolerated(0.22) neutral(0.042) NULL MTUS2 23281 genome.wustl.edu 37 13 30072623 30072623 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033602.2 +1 validated p.K1259 1.000 114 0% 89 28.1% 0 - - - - NULL UBL3 5412 genome.wustl.edu 37 13 30341437 30341437 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007106.3 -1 validated p.R103 1.000 66 0% 33 15.2% 20 50% - - - NULL USPL1 10208 genome.wustl.edu 37 13 31231980 31231980 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005800.4 +1 validated p.E589G 0.866 173 0% 87 21.8% 6 16.6% possibly_damaging(0.489) deleterious(0) deleterious(0.607) NULL USPL1 10208 genome.wustl.edu 37 13 31232232 31232232 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005800.4 +1 validated p.T673N 0.000 58 0% 57 38.6% 11 45.4% benign(0.427) deleterious(0.03) deleterious(0.504) NULL HSPH1 10808 genome.wustl.edu 37 13 31711623 31711623 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006644.2 -1 validated p.P803 0.973 408 0% 160 39.4% 78 84.6% - - - superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain HSPH1 10808 genome.wustl.edu 37 13 31717955 31717955 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006644.2 -1 validated p.E564* 1.000 202 0% 116 21.6% 64 4.6% - - - HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain HSPH1 10808 genome.wustl.edu 37 13 31725211 31725211 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006644.2 -1 validated p.R261* 0.961 236 0% 121 31.4% 53 3.7% - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain B3GALTL 145173 genome.wustl.edu 37 13 31797099 31797099 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194318.3 +1 reviewed p.K44T 0.957 324 0% 202 31.7% 2 100% benign(0.086) deleterious(0.04) neutral(0.355) NULL B3GALTL 145173 genome.wustl.edu 37 13 31850894 31850894 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194318.3 +1 reviewed p.F279C 1.000 274 0% 164 28.7% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fringe FRY 10129 genome.wustl.edu 37 13 32721489 32721489 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023037.2 +1 validated p.R417Q 1.000 141 0% 142 26.1% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FRY 10129 genome.wustl.edu 37 13 32811838 32811838 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023037.2 +1 validated p.F2045V 1.000 64 0% 28 28.6% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BRCA2 675 genome.wustl.edu 37 13 32900276 32900276 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000059.3 +1 reviewed p.R155I 0.981 173 0% 84 32.1% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL BRCA2 675 genome.wustl.edu 37 13 32911683 32911683 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000059.3 +1 reviewed p.S1064* 0.694 95 0% 60 36.7% 1 0% - - - NULL BRCA2 675 genome.wustl.edu 37 13 32911909 32911909 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000059.3 +1 reviewed p.K1139N 0.004 81 0% 42 21.4% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL BRCA2 675 genome.wustl.edu 37 13 32913312 32913312 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000059.3 +1 reviewed p.I1607S 0.000 23 0% 22 27.3% 4 0% benign(0.001) tolerated(0.15) neutral(0.241) NULL BRCA2 675 genome.wustl.edu 37 13 32921032 32921032 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000059.3 +1 reviewed p.R2336C 0.118 214 0% 100 28% 0 - benign(0.001) tolerated(0.12) neutral(0.261) NULL N4BP2L2 10443 genome.wustl.edu 37 13 33111135 33111135 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014887.2 -1 validated p.F10L 0.461 167 0% 198 29.3% 26 11.5% benign(0.004) tolerated(0.77) neutral(0.001) NULL KL 9365 genome.wustl.edu 37 13 33638048 33638048 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004795.3 +1 reviewed p.A922T 0.993 164 0% 149 38.3% 0 - benign(0.052) tolerated(0.79) neutral(0.004) superfamily_(Trans)glycosidases STARD13 90627 genome.wustl.edu 37 13 33741737 33741737 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178006.3 -1 validated p.C64 1.000 78 0% 59 13.6% 1 0% - - - HMMPfam_SAM_2 RFC3 5983 genome.wustl.edu 37 13 34395384 34395384 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002915.3 +1 reviewed p.R68K 1.000 191 0% 251 30.3% 46 58.6% benign(0.016) tolerated(1) neutral(0.001) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases NBEA 26960 genome.wustl.edu 37 13 35806683 35806683 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015678.4 +1 validated p.E1901D 1.000 163 0% 86 33.7% 2 50% probably_damaging(0.984) tolerated(0.13) deleterious(0.683) superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 36125136 36125136 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015678.4 +1 validated p.G2258V 1.000 127 0% 65 23.1% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat,superfamily_PH domain-like NBEA 26960 genome.wustl.edu 37 13 36223874 36223874 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015678.4 +1 validated p.S2597Y 1.000 115 0% 133 36.8% 8 12.5% probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_WD40 repeat-like DCLK1 9201 genome.wustl.edu 37 13 36367505 36367505 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004734.3 -1 validated p.A686T 1.000 337 0% 136 25% 25 52% benign(0) tolerated(1) - NULL SERTM1 400120 genome.wustl.edu 37 13 37269344 37269344 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203451.2 +1 validated p.I43 1.000 207 0% 111 24.3% 2 50% - - - NULL SERTM1 400120 genome.wustl.edu 37 13 37269473 37269473 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203451.2 +1 validated p.S86 0.463 163 0% 108 36.1% 1 0% - - - NULL RFXAP 5994 genome.wustl.edu 37 13 37399632 37399632 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000538.3 +1 reviewed p.R223K 1.000 124 0% 164 26.2% 6 50% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL POSTN 10631 genome.wustl.edu 37 13 38158932 38158932 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006475.2 -1 validated p.I343 1.000 280 0% 129 36.4% 16 0% - - - HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain POSTN 10631 genome.wustl.edu 37 13 38160279 38160279 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006475.2 -1 validated p.E298K 1.000 121 0% 38 42.1% 9 0% benign(0.001) tolerated(0.93) - HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain STOML3 161003 genome.wustl.edu 37 13 39541004 39541004 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145286.2 -1 validated p.G278 0.000 47 2.1% 27 37% 0 - - - - NULL STOML3 161003 genome.wustl.edu 37 13 39544322 39544322 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145286.2 -1 validated p.Q172H 1.000 58 0% 22 40.9% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Band_7,HMMSmart_PHB,PatternScan_BAND_7 STOML3 161003 genome.wustl.edu 37 13 39544435 39544435 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145286.2 -1 validated p.D135N 0.990 72 0% 37 27% 0 - benign(0.001) tolerated(0.71) neutral(0.002) HMMPfam_Band_7,HMMSmart_PHB SLC25A15 10166 genome.wustl.edu 37 13 41382658 41382658 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014252.3 +1 reviewed p.R236K 1.000 288 0% 192 37% 6 83.3% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr KBTBD6 89890 genome.wustl.edu 37 13 41706560 41706560 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152903.4 -1 validated p.V30I 0.888 67 0% 74 29.7% 9 33.3% possibly_damaging(0.931) tolerated(0.3) neutral(0.406) NULL NAA16 79612 genome.wustl.edu 37 13 41897318 41897318 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024561.4 +1 validated p.T177A 1.000 176 0% 176 33.5% 4 50% possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) superfamily_TPR-like NAA16 79612 genome.wustl.edu 37 13 41899872 41899872 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024561.4 +1 validated p.L192F 1.000 114 0% 94 27.7% 3 0% benign(0.333) tolerated(0.07) neutral(0.423) superfamily_TPR-like KIAA0564 23078 genome.wustl.edu 37 13 42275660 42275660 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015058.1 -1 validated p.A1078S 0.998 245 0% 128 32% 6 33.3% benign(0.03) tolerated(0.07) neutral(0.321) NULL KIAA0564 23078 genome.wustl.edu 37 13 42295659 42295659 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015058.1 -1 validated p.L937 0.170 135 0% 55 32.7% 17 58.8% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA0564 23078 genome.wustl.edu 37 13 42301368 42301368 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015058.1 -1 validated p.G907V 1.000 148 0.7% 61 9.8% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases AKAP11 11215 genome.wustl.edu 37 13 42874565 42874565 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016248.2 +1 reviewed p.S561R 1.000 79 0% 29 34.5% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENOX1 55068 genome.wustl.edu 37 13 43987010 43987010 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127615.1 -1 validated p.P14L 0.253 111 0% 151 30.5% 0 - possibly_damaging(0.913) deleterious(0.02) deleterious(0.748) NULL CCDC122 160857 genome.wustl.edu 37 13 44432991 44432991 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144974.3 -1 validated p.E200* 0.995 120 0% 72 30.6% 0 - - - - NULL TSC22D1 8848 genome.wustl.edu 37 13 45149429 45149429 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183422.2 -1 validated p.K261T 0.998 51 0% 94 27.7% 28 46.4% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL NUFIP1 26747 genome.wustl.edu 37 13 45515406 45515406 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012345.2 -1 validated p.R475W 1.000 142 0% 70 27.1% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM194B 220081 genome.wustl.edu 37 13 46164794 46164794 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182542.2 -1 predicted p.R226C 0.000 122 0% 85 27.1% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL FAM194B 220081 genome.wustl.edu 37 13 46170547 46170547 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182542.2 -1 predicted p.E198D 0.000 327 0% 375 34.4% 0 - benign(0.002) tolerated(0.42) neutral(0.014) NULL SPERT 220082 genome.wustl.edu 37 13 46287863 46287863 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152719.1 +1 provisional p.A235T 0.000 18 0% 30 30% 0 - benign(0) tolerated(0.45) neutral(0.012) NULL ZC3H13 23091 genome.wustl.edu 37 13 46559794 46559794 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015070.3 -1 validated p.R453Q 1.000 278 0% 235 28.9% 17 41.1% unknown(0) deleterious(0.01) - NULL LRCH1 23143 genome.wustl.edu 37 13 47224417 47224417 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015116.2 +1 reviewed p.N130T 1.000 152 0% 123 25.2% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like HTR2A 3356 genome.wustl.edu 37 13 47409525 47409525 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000621.3 -1 reviewed p.S288Y 1.000 74 0% 33 39.4% 0 - possibly_damaging(0.885) deleterious(0.01) deleterious(0.752) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RB1 5925 genome.wustl.edu 37 13 49050942 49050942 + Missense_Mutation SNP C C T rs143105337 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000321.2 +1 reviewed p.R876C 1.000 104 0% 59 28.8% 23 26% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rb_C FNDC3A 22862 genome.wustl.edu 37 13 49710718 49710718 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079673.1 +1 validated p.Q247H 0.943 170 0% 87 11.5% 8 25% possibly_damaging(0.823) tolerated(0.1) deleterious(0.598) NULL FNDC3A 22862 genome.wustl.edu 37 13 49742748 49742748 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079673.1 +1 validated e9-1 1.000 108 0% 64 20.3% 0 - - - - - FNDC3A 22862 genome.wustl.edu 37 13 49760153 49760153 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079673.1 +1 validated p.F557L 0.998 110 0% 83 31.3% 8 25% benign(0) tolerated(0.65) neutral(0.003) superfamily_Fibronectin type III MLNR 2862 genome.wustl.edu 37 13 49796434 49796434 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001507.1 +1 provisional p.A387V 0.000 58 0% 106 35.8% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL CAB39L 81617 genome.wustl.edu 37 13 49924992 49924992 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079670.1 -1 validated p.R151Q 1.000 94 0% 66 25.8% 7 71.4% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Mo25,superfamily_ARM-type_fold SETDB2 83852 genome.wustl.edu 37 13 50050703 50050703 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031915.2 +1 validated p.H145N 0.999 54 0% 22 31.8% 4 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL RCBTB1 55213 genome.wustl.edu 37 13 50118873 50118873 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018191.3 -1 reviewed p.R391K 1.000 177 0% 143 29.4% 6 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB ARL11 115761 genome.wustl.edu 37 13 50204764 50204764 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138450.5 +1 reviewed p.L61I 0.295 47 0% 29 27.6% 2 0% benign(0.354) tolerated(0.12) neutral(0.372) HMMSmart_ARF,HMMPfam_Arf,superfamily_SSF52540 KPNA3 3839 genome.wustl.edu 37 13 50285136 50285136 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002267.3 -1 reviewed p.A265D 1.000 85 0% 56 32.1% 23 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat SPRYD7 57213 genome.wustl.edu 37 13 50495691 50495691 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020456.2 -1 validated p.L139* 1.000 138 0% 118 32.2% 14 14.2% - - - HMMPfam_SPRY,HMMSmart_SM00449 TRIM13 10206 genome.wustl.edu 37 13 50586868 50586868 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007278.1 +1 reviewed p.E267D 1.000 104 0% 43 30.2% 17 35.2% possibly_damaging(0.719) tolerated(0.49) neutral(0.271) NULL RNASEH2B 79621 genome.wustl.edu 37 13 51522142 51522142 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024570.2 +1 reviewed p.A212 0.997 136 0% 77 29.9% 48 41.6% - - - HMMPfam_RNase_H2-Ydr279 GUCY1B2 2974 genome.wustl.edu 37 13 51598289 51598289 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000389600 -1 known p.R158Q 0.066 194 0.5% 104 33.7% 0 - - - - HMMPfam_HNOBA GUCY1B2 2974 genome.wustl.edu 37 13 51599553 51599553 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000389600 -1 known p.E76* 0.089 175 0% 68 20.6% 0 - - - - NULL SERPINE3 647174 genome.wustl.edu 37 13 51935969 51935969 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101320.1 +1 validated p.R371W 0.996 136 0% 45 35.6% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINE3 647174 genome.wustl.edu 37 13 51936064 51936064 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101320.1 +1 validated p.I402M 0.000 198 0% 105 13.3% 0 - possibly_damaging(0.911) - - HMMPfam_Serpin,HMMSmart_SM00093 WDFY2 115825 genome.wustl.edu 37 13 52293459 52293459 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052950.3 +1 reviewed p.T154A 1.000 107 0% 96 29.2% 14 42.8% benign(0.213) tolerated(0.85) neutral(0.022) superfamily_WD40 repeat-like WDFY2 115825 genome.wustl.edu 37 13 52301862 52301862 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052950.3 +1 reviewed p.Q178H 1.000 153 0% 81 24.7% 15 33.3% probably_damaging(0.992) tolerated(0.22) deleterious(0.489) superfamily_WD40 repeat-like WDFY2 115825 genome.wustl.edu 37 13 52332409 52332409 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052950.3 +1 reviewed p.L382 1.000 103 0% 85 25.9% 36 50% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 DHRS12 79758 genome.wustl.edu 37 13 52364150 52364150 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031719.1 -1 provisional p.L100M 0.015 159 0% 124 11.3% 11 18.1% possibly_damaging(0.747) tolerated(0.07) deleterious(0.593) superfamily_NAD(P)-bd UTP14C 9724 genome.wustl.edu 37 13 52603414 52603414 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021645.5 +1 validated p.F158L 1.000 88 0% 49 22.4% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Utp14 UTP14C 9724 genome.wustl.edu 37 13 52604492 52604492 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021645.5 +1 validated p.E518* 0.045 77 0% 39 28.2% 7 42.8% - - - HMMPfam_Utp14 NEK5 341676 genome.wustl.edu 37 13 52693509 52693509 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199289.1 -1 provisional p.L54I 1.000 186 0% 164 23.8% 0 - probably_damaging(0.991) tolerated(0.5) neutral(0.454) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HNRNPA1L2 144983 genome.wustl.edu 37 13 53216967 53216967 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001011724.1 +1 validated p.E114* 1.000 6 0.000 8 0.750 173 0% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 SUGT1 10910 genome.wustl.edu 37 13 53241004 53241004 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130912.1 +1 reviewed p.L225F 1.000 186 0% 109 32.1% 40 45% possibly_damaging(0.558) tolerated(1) neutral(0.191) superfamily_HSP20-like chaperones,HMMPfam_CS LECT1 11061 genome.wustl.edu 37 13 53307403 53307403 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007015.2 -1 reviewed p.K102T 1.000 257 0% 327 33.6% 0 - possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) NULL OLFM4 10562 genome.wustl.edu 37 13 53624837 53624837 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006418.3 +1 reviewed p.Q488 0.089 85 0% 35 25.7% 22 36.3% - - - HMMPfam_OLF,HMMSmart_OLF PCDH17 27253 genome.wustl.edu 37 13 58206950 58206950 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040429.2 +1 reviewed p.I90 0.996 26 0% 51 33.3% 5 0% - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDH17 27253 genome.wustl.edu 37 13 58209074 58209074 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040429.2 +1 reviewed p.F798 1.000 45 0% 94 26.6% 3 0% - - - NULL LOC341689 341689 genome.wustl.edu 37 13 59103395 59103395 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_017487.3 +1 model NULL 0.197 123 0% 143 28.7% 0 - - - - - DIAPH3 81624 genome.wustl.edu 37 13 60498968 60498968 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042517.1 -1 validated p.S704L 0.299 70 0% 37 27% 1 100% benign(0.095) tolerated(0.42) neutral(0.021) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) DIAPH3 81624 genome.wustl.edu 37 13 60566266 60566266 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042517.1 -1 validated p.E394K 1.000 184 0% 45 35.6% 5 60% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_Drf_FH3 DIAPH3 81624 genome.wustl.edu 37 13 60686210 60686210 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042517.1 -1 validated p.E108 0.006 203 0% 120 30% 4 0% - - - NULL TDRD3 81550 genome.wustl.edu 37 13 61084832 61084832 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030794.2 +1 validated p.A269T 1.000 135 0% 62 27.4% 16 31.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TDRD3 81550 genome.wustl.edu 37 13 61102603 61102603 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030794.2 +1 validated p.R322Q 1.000 61 0% 50 38% 13 23% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) NULL PCDH20 64881 genome.wustl.edu 37 13 61986309 61986309 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022843.3 -1 validated p.N641 1.000 105 0% 153 33.3% 0 - - - - superfamily_Cadherin PCDH9 5101 genome.wustl.edu 37 13 67799607 67799607 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203487.2 -1 reviewed p.D989A 1.000 107 0% 113 35.4% 36 61.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Protocadherin PCDH9 5101 genome.wustl.edu 37 13 67801073 67801073 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203487.2 -1 reviewed p.K500N 1.000 124 0% 158 38.6% 29 37.9% benign(0.045) tolerated(0.1) neutral(0.289) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like KLHL1 57626 genome.wustl.edu 37 13 70293571 70293571 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020866.2 -1 validated p.L649I 1.000 103 0% 44 34.1% 0 - possibly_damaging(0.843) tolerated(0.38) neutral(0.341) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL1 57626 genome.wustl.edu 37 13 70370916 70370916 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020866.2 -1 validated p.K531N 1.000 138 0% 117 37.6% 0 - benign(0.006) tolerated(1) - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain BORA 79866 genome.wustl.edu 37 13 73319117 73319117 + Splice_Site SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024808.2 +1 validated e7-2 0.992 86 0% 24 41.7% 1 100% - - - - PIBF1 10464 genome.wustl.edu 37 13 73357637 73357637 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006346.2 +1 validated p.K10N 0.999 63 0% 116 33.6% 0 - possibly_damaging(0.868) deleterious(0.01) deleterious(0.743) NULL PIBF1 10464 genome.wustl.edu 37 13 73357820 73357820 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006346.2 +1 validated p.T71 0.807 82 0% 141 31.9% 8 37.5% - - - NULL PIBF1 10464 genome.wustl.edu 37 13 73547799 73547799 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006346.2 +1 validated p.L679I 1.000 100 0% 58 27.6% 18 22.2% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL KLF12 11278 genome.wustl.edu 37 13 74420090 74420090 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007249.4 -1 validated p.H182N 1.000 95 0% 45 40% 4 50% possibly_damaging(0.485) tolerated(0.35) neutral(0.181) NULL KLF12 11278 genome.wustl.edu 37 13 74420374 74420374 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007249.4 -1 validated p.N87S 1.000 81 0% 76 18.4% 1 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL TBC1D4 9882 genome.wustl.edu 37 13 75898521 75898521 + Nonsense_Mutation SNP G G A rs61736969 byCluster;byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014832.2 -1 validated p.R684* 0.991 183 0% 112 25.9% 0 - - - - NULL LMO7 4008 genome.wustl.edu 37 13 76379688 76379688 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015842.2 +1 reviewed p.Y97D 0.177 86 0% 79 27.8% 0 - benign(0.255) deleterious(0.01) neutral(0.432) NULL FBXL3 26224 genome.wustl.edu 37 13 77595953 77595953 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012158.2 -1 reviewed p.E15* 0.889 124 0% 186 35.5% 7 28.5% - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77671712 77671712 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015057.4 -1 validated p.L3155I 0.998 113 0% 50 12% 7 0% possibly_damaging(0.916) tolerated(0.45) neutral(0.379) NULL MYCBP2 23077 genome.wustl.edu 37 13 77672420 77672420 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015057.4 -1 validated p.F2919V 0.997 144 0% 73 30.1% 6 50% benign(0) tolerated(0.59) neutral(0.004) NULL MYCBP2 23077 genome.wustl.edu 37 13 77732220 77732220 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015057.4 -1 validated p.L2170I 1.000 141 0% 66 57.6% 2 50% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) NULL MYCBP2 23077 genome.wustl.edu 37 13 77817953 77817953 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015057.4 -1 validated p.D801N 1.000 152 0% 110 33.6% 8 37.5% probably_damaging(0.995) tolerated(0.1) deleterious(0.744) superfamily_RCC1/BLIP-II MYCBP2 23077 genome.wustl.edu 37 13 77825420 77825420 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015057.4 -1 validated p.E711D 1.000 127 0% 117 28.2% 3 66.6% probably_damaging(0.971) tolerated(0.51) neutral(0.422) superfamily_RCC1/BLIP-II MYCBP2 23077 genome.wustl.edu 37 13 77844495 77844495 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015057.4 -1 validated p.F337C 1.000 134 0% 68 30.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MYCBP2 23077 genome.wustl.edu 37 13 77844653 77844653 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015057.4 -1 validated p.S284 0.437 190 0% 81 25.9% 0 - - - - NULL SCEL 8796 genome.wustl.edu 37 13 78208567 78208567 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144777.2 +1 validated p.R582M 1.000 90 0% 166 12% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL POU4F1 5457 genome.wustl.edu 37 13 79176476 79176476 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006237.3 -1 validated p.E112K 1.000 13 0% 16 31.2% 0 - unknown(0) deleterious(0.04) - NULL RNF219 79596 genome.wustl.edu 37 13 79190817 79190817 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024546.3 -1 validated p.M360T 1.000 200 0% 166 30.7% 6 50% benign(0.27) tolerated(0.26) neutral(0.063) NULL RNF219 79596 genome.wustl.edu 37 13 79209326 79209326 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024546.3 -1 validated p.K186T 1.000 185 0% 198 32.8% 8 25% possibly_damaging(0.851) tolerated(0.24) neutral(0.364) NULL RBM26 64062 genome.wustl.edu 37 13 79896579 79896579 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022118.3 -1 validated p.R920C 1.000 183 0% 82 32.9% 59 37.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SSF54928 RBM26 64062 genome.wustl.edu 37 13 79929432 79929432 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022118.3 -1 validated p.V593L 1.000 346 0% 136 27.2% 22 50% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMSmart_RRM,superfamily_SSF54928 RBM26 64062 genome.wustl.edu 37 13 79939776 79939776 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022118.3 -1 validated p.V452M 1.000 215 0% 103 34% 26 50% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL NDFIP2 54602 genome.wustl.edu 37 13 80125172 80125172 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019080.2 +1 validated p.G310* 1.000 110 0% 39 35.9% 8 0% - - - HMMPfam_DUF2370 SLITRK1 114798 genome.wustl.edu 37 13 84454383 84454383 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052910.1 -1 reviewed p.K420N 1.000 127 0% 137 33.6% 0 - benign(0.025) tolerated(0.49) neutral(0.011) HMMPfam_LRR_1,superfamily_SSF52058 SLITRK1 114798 genome.wustl.edu 37 13 84455172 84455172 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052910.1 -1 reviewed p.E157 1.000 72 0% 67 32.8% 0 - - - - HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 SLITRK6 84189 genome.wustl.edu 37 13 86368433 86368433 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032229.2 -1 validated p.Y737 1.000 242 0% 121 21.5% 2 0% - - - NULL SLITRK6 84189 genome.wustl.edu 37 13 86368523 86368523 + Nonstop_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000313206 -1 known p.*396R 1.000 211 0% 115 36.5% 9 88.8% - - - NULL MIR19A 406979 genome.wustl.edu 37 13 92003209 92003209 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384878 +1 known NULL 1.000 227 0% 364 35.7% 0 - - - - - TGDS 23483 genome.wustl.edu 37 13 95232185 95232185 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014305.2 -1 validated p.S193N 1.000 197 0% 77 24.7% 9 22.2% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains TGDS 23483 genome.wustl.edu 37 13 95244502 95244502 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014305.2 -1 validated p.F72C 1.000 227 0% 287 32.4% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains SOX21 11166 genome.wustl.edu 37 13 95364062 95364062 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007084.2 -1 validated p.R81H 1.000 59 0% 85 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HMG-box ABCC4 10257 genome.wustl.edu 37 13 95673859 95673859 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005845.3 -1 reviewed p.S1316 0.012 156 0% 214 31.8% 15 33.3% - - - NULL ABCC4 10257 genome.wustl.edu 37 13 95830328 95830328 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005845.3 -1 reviewed p.E521D 1.000 121 0% 70 12.9% 5 20% benign(0.004) deleterious(0.03) neutral(0.364) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases DZIP1 22873 genome.wustl.edu 37 13 96264366 96264366 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198968.2 -1 validated p.F413L 1.000 195 0% 139 31.7% 1 100% probably_damaging(0.996) tolerated(0.16) deleterious(0.521) NULL DNAJC3 5611 genome.wustl.edu 37 13 96412463 96412463 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006260.3 +1 reviewed p.E239G 1.000 97 0% 42 42.9% 29 24.1% benign(0.039) tolerated(0.29) neutral(0.031) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like FARP1 10160 genome.wustl.edu 37 13 99030122 99030122 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005766.2 +1 reviewed p.L149S 1.000 99 0% 34 29.4% 88 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 STK24 8428 genome.wustl.edu 37 13 99127571 99127571 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003576.3 -1 validated p.I136M 0.998 192 0% 378 32.3% 90 51.1% benign(0.009) tolerated(0.09) neutral(0.297) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLC15A1 6564 genome.wustl.edu 37 13 99356546 99356546 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005073.3 -1 reviewed p.Q471H 0.001 125 0% 83 25.3% 3 66.6% benign(0.001) tolerated(0.35) neutral(0.021) HMMPfam_PTR2,superfamily_MFS general substrate transporter SLC15A1 6564 genome.wustl.edu 37 13 99358477 99358477 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005073.3 -1 reviewed p.E394K 0.003 210 0% 130 25.4% 3 33.3% possibly_damaging(0.439) tolerated(0.08) neutral(0.443) HMMPfam_PTR2,superfamily_MFS general substrate transporter CLYBL 171425 genome.wustl.edu 37 13 100518604 100518604 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000339105 +1 known p.R249* 0.387 102 0% 35 34.3% 10 20% - - - HMMPfam_HpcH_HpaI,superfamily_Phosphoenolpyruvate/pyruvate domain TMTC4 84899 genome.wustl.edu 37 13 101257341 101257341 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032813.2 -1 validated p.I730 1.000 238 0% 189 31.2% 29 48.2% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like NALCN 259232 genome.wustl.edu 37 13 101720313 101720313 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052867.2 -1 validated p.R1468H 1.000 202 0% 131 27.5% 1 0% possibly_damaging(0.937) deleterious(0.04) deleterious(0.732) superfamily_Voltage-gated potassium channels NALCN 259232 genome.wustl.edu 37 13 101844402 101844402 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052867.2 -1 validated p.F544V 1.000 84 0% 55 23.6% 1 100% benign(0.072) tolerated(0.09) neutral(0.301) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NALCN 259232 genome.wustl.edu 37 13 102029328 102029328 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052867.2 -1 validated p.R152Q 1.000 101 1% 86 48.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ITGBL1 9358 genome.wustl.edu 37 13 102227841 102227841 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004791.1 +1 provisional p.F177C 1.000 282 0% 183 32.8% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_SSF57196 TPP2 7174 genome.wustl.edu 37 13 103279486 103279486 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003291.2 +1 reviewed p.T303 0.997 118 0% 48 33.3% 6 16.6% - - - HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53 TPP2 7174 genome.wustl.edu 37 13 103301293 103301293 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003291.2 +1 reviewed p.R889* 1.000 271 0% 85 25.9% 23 17.3% - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103382954 103382954 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.L6546R 0.000 162 0% 45 26.7% 1 100% unknown(0) deleterious(0) - NULL LOC643677 643677 genome.wustl.edu 37 13 103385458 103385458 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.K5711N 0.004 299 0% 165 30.9% 0 - unknown(0) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103386646 103386646 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.L5315 0.009 230 0% 126 23.8% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103388561 103388561 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.P4677Q 0.000 193 0% 103 29.1% 0 - benign(0.049) deleterious(0.02) neutral(0.386) NULL LOC643677 643677 genome.wustl.edu 37 13 103389704 103389704 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.R4296I 0.001 210 0% 119 13.4% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103390364 103390364 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.R4157I 0.000 422 0% 287 31.7% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103390990 103390990 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.K3948N 0.000 363 0% 123 35% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103392450 103392450 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.E3462* 0.032 94 0% 50 42% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103392678 103392678 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.E3386* 0.000 102 0% 38 10.5% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394403 103394403 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.L2811I 0.000 210 0% 76 15.8% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394869 103394869 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.F2655L 0.002 80 0% 30 40% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394968 103394968 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.Q2622H 0.001 136 0% 50 26% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103396243 103396243 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.F2197L 0.000 152 0% 81 40.7% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103399761 103399761 + Missense_Mutation SNP G G A rs143261898 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.P1025S 0.000 154 0% 60 36.7% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103399777 103399777 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.I1019 0.073 149 0% 60 26.7% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103401845 103401845 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344085.1 -1 model p.F330C 0.000 110 0% 42 38.1% 0 - - - - NULL KDELC1 79070 genome.wustl.edu 37 13 103449347 103449347 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024089.2 -1 reviewed p.S65 0.622 180 0% 265 10.9% 12 0% - - - HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin ERCC5 2073 genome.wustl.edu 37 13 103518673 103518673 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000123.2 +1 reviewed p.K754I 0.968 47 0% 40 35% 31 38.7% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_PIN domain-like SLC10A2 6555 genome.wustl.edu 37 13 103718407 103718407 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000452.2 -1 reviewed p.P65S 1.000 144 0% 78 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SBF DAOA 267012 genome.wustl.edu 37 13 106142351 106142351 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172370.3 +1 reviewed p.R128L 0.000 66 0% 46 43.5% 0 - possibly_damaging(0.599) deleterious(0) deleterious(0.652) NULL ARGLU1 55082 genome.wustl.edu 37 13 107211877 107211877 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018011.3 -1 validated p.R159Q 1.000 196 0% 203 31% 116 43.9% possibly_damaging(0.666) deleterious(0.03) deleterious(0.601) NULL LOC390424 390424 genome.wustl.edu 37 13 107315861 107315861 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344086.1 +1 model p.S26Y 0.186 43 0% 18 38.9% 0 - - - - NULL FAM155A 728215 genome.wustl.edu 37 13 108518147 108518147 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080396.2 -1 validated p.E266 1.000 64 0% 106 40.6% 1 0% - - - NULL LIG4 3981 genome.wustl.edu 37 13 108861812 108861812 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098268.1 -1 reviewed p.L602R 0.670 120 0% 171 26.9% 7 57.1% possibly_damaging(0.859) deleterious(0.01) deleterious(0.738) NULL LIG4 3981 genome.wustl.edu 37 13 108862001 108862001 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098268.1 -1 reviewed p.L539* 0.944 118 0% 196 33.2% 10 40% - - - HMMPfam_DNA_ligase_A_C ABHD13 84945 genome.wustl.edu 37 13 108882396 108882396 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032859.2 +1 validated p.K277T 1.000 68 0% 67 34.3% 19 21% benign(0.007) tolerated(0.29) neutral(0.029) superfamily_alpha/beta-Hydrolases MYO16 23026 genome.wustl.edu 37 13 109318319 109318319 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015011.1 +1 validated p.R16 0.978 56 0% 35 37.1% 0 - - - - NULL MYO16 23026 genome.wustl.edu 37 13 109562376 109562376 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015011.1 +1 validated p.E579D 1.000 267 0% 116 29.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109672074 109672074 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015011.1 +1 validated p.L849I 0.945 77 0% 50 26% 0 - possibly_damaging(0.909) deleterious(0.02) deleterious(0.745) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109704685 109704685 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015011.1 +1 validated p.S948 1.000 165 0% 67 19.4% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases COL4A1 1282 genome.wustl.edu 37 13 110813632 110813632 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001845.4 -1 reviewed p.R1516Q 0.998 116 0% 155 36.1% 175 18.8% unknown(0) deleterious(0) - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like COL4A1 1282 genome.wustl.edu 37 13 110839486 110839486 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001845.4 -1 reviewed p.P576L 1.000 61 0% 36 30.6% 54 18.5% unknown(0) deleterious(0.03) - HMMPfam_Collagen TEX29 121793 genome.wustl.edu 37 13 111980561 111980561 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152324.1 +1 predicted p.D30E 1.000 147 0% 239 31.8% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL TUBGCP3 10426 genome.wustl.edu 37 13 113173308 113173308 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006322.4 -1 provisional p.V644A 0.998 103 0% 168 25.6% 18 27.7% possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_Spc97_Spc98 TUBGCP3 10426 genome.wustl.edu 37 13 113181728 113181728 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006322.4 -1 provisional p.S469L 0.997 119 0% 209 27.8% 12 33.3% benign(0.102) deleterious(0.04) neutral(0.357) HMMPfam_Spc97_Spc98 TUBGCP3 10426 genome.wustl.edu 37 13 113208474 113208474 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006322.4 -1 provisional p.R288K 1.000 89 0% 159 25.2% 11 45.4% benign(0.003) tolerated(0.52) neutral(0.009) HMMPfam_Spc97_Spc98 F7 2155 genome.wustl.edu 37 13 113772905 113772905 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000131.3 +1 reviewed p.F328L 0.997 18 0% 40 32.5% 0 - benign(0.041) tolerated(0.24) neutral(0.040) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TFDP1 7027 genome.wustl.edu 37 13 114240088 114240088 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007111.4 +1 reviewed e1-1 0.995 76 0% 157 38.2% 0 - - - - - TFDP1 7027 genome.wustl.edu 37 13 114288276 114288276 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007111.4 +1 reviewed p.I182 1.000 91 0% 122 29.5% 143 43.3% - - - HMMPfam_E2F_TDP,superfamily_SSF46785 RASA3 22821 genome.wustl.edu 37 13 114766322 114766322 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007368.2 -1 reviewed p.F610C 1.000 113 0% 225 35.1% 4 0% possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMPfam_PH,HMMSmart_PH,HMMSmart_RasGAP,superfamily_Rho_GAP,superfamily_SSF50729 CDC16 8881 genome.wustl.edu 37 13 115004902 115004902 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001078645.1 +1 reviewed p.K106N 0.975 41 0% 95 34.7% 29 44.8% benign(0.087) tolerated(0.31) neutral(0.034) superfamily_TPR-like CHAMP1 283489 genome.wustl.edu 37 13 115091142 115091142 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032436.2 +1 validated p.E609K 0.994 50 0% 34 20.6% 20 35% benign(0.028) tolerated(0.33) neutral(0.026) NULL POTEG 404785 genome.wustl.edu 37 14 19553677 19553677 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005356.2 +1 validated p.D87 0.000 244 0.4% 418 12.7% 1 100% - - - NULL POTEG 404785 genome.wustl.edu 37 14 19559112 19559112 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005356.2 +1 validated p.L253S 0.005 1037 0% 780 7.6% 0 - benign(0.004) tolerated(0.67) neutral(0.003) HMMSmart_SM00248,superfamily_Ankyrin repeat OR4Q3 441669 genome.wustl.edu 37 14 20215592 20215592 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172194.1 +1 provisional p.K2N 0.661 420 0% 251 13.1% 0 - benign(0) tolerated(0.52) neutral(0.009) NULL OR4N2 390429 genome.wustl.edu 37 14 20296267 20296267 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004723.1 +1 provisional p.V220 0.029 259 0% 137 12.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4K2 390431 genome.wustl.edu 37 14 20345066 20345066 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005501.1 +1 provisional p.L214V 0.953 382 0% 437 17.6% 0 - possibly_damaging(0.535) deleterious(0.01) deleterious(0.587) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4K5 79317 genome.wustl.edu 37 14 20388897 20388897 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005483.1 +1 provisional p.L44 0.998 477 0% 325 18.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4K5 79317 genome.wustl.edu 37 14 20389481 20389481 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005483.1 +1 provisional p.T239M 0.732 521 0% 298 17.8% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_7tm_1,superfamily_SSF81321 OR4K15 81127 genome.wustl.edu 37 14 20444383 20444383 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005486.1 +1 provisional p.L236I 0.000 165 0% 78 33.3% 0 - benign(0.155) tolerated(0.5) neutral(0.024) HMMPfam_7tm_1,superfamily_SSF81321 OR4K13 390433 genome.wustl.edu 37 14 20502016 20502016 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004714.1 -1 provisional p.R301I 0.000 60 1.7% 29 24.1% 0 - benign(0) tolerated(0.14) neutral(0.249) superfamily_SSF81321 OR4K13 390433 genome.wustl.edu 37 14 20502281 20502281 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004714.1 -1 provisional p.L213I 0.000 77 0% 89 27% 0 - benign(0.372) tolerated(0.28) neutral(0.150) HMMPfam_7tm_1,superfamily_SSF81321 OR11G2 390439 genome.wustl.edu 37 14 20665890 20665890 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005503.1 +1 provisional p.F132L 0.997 110 0% 126 34.1% 0 - possibly_damaging(0.575) tolerated(0.09) deleterious(0.493) HMMPfam_7tm_1,superfamily_SSF81321 OR11G2 390439 genome.wustl.edu 37 14 20665990 20665990 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005503.1 +1 provisional p.R166W 0.017 129 0% 143 32.9% 0 - benign(0.016) deleterious(0.03) neutral(0.365) HMMPfam_7tm_1,superfamily_SSF81321 OR11G2 390439 genome.wustl.edu 37 14 20666049 20666049 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005503.1 +1 provisional p.N185K 0.166 141 0% 152 32.2% 0 - benign(0.013) tolerated(0.27) neutral(0.034) HMMPfam_7tm_1,superfamily_SSF81321 OR11G2 390439 genome.wustl.edu 37 14 20666089 20666089 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005503.1 +1 provisional p.V199I 0.000 166 0% 167 25.1% 0 - benign(0) tolerated(0.71) neutral(0.002) HMMPfam_7tm_1,superfamily_SSF81321 TEP1 7011 genome.wustl.edu 37 14 20841256 20841256 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007110.4 -1 reviewed p.A2289T 1.000 47 0% 39 10.3% 12 8.3% probably_damaging(0.979) tolerated(0.39) neutral(0.438) HMMSmart_SM00320,superfamily_WD40 repeat-like RNASE10 338879 genome.wustl.edu 37 14 20979205 20979205 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012975.1 +1 provisional p.Y192C 0.155 62 0% 113 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like RNASE11 122651 genome.wustl.edu 37 14 21052097 21052097 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145250.3 -1 validated p.K179N 0.007 112 0% 56 35.7% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) superfamily_RNase A-like RNASE12 493901 genome.wustl.edu 37 14 21058834 21058834 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024822.2 -1 validated p.E17* 0.926 156 0% 162 23.5% 0 - - - - NULL EDDM3B 64184 genome.wustl.edu 37 14 21238342 21238342 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022360.4 +1 validated p.L11 0.000 65 1.5% 36 36.1% 0 - - - - NULL RNASE2 6036 genome.wustl.edu 37 14 21423938 21423938 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002934.2 +1 validated p.P3Q 0.096 69 0% 44 38.6% 4 0% benign(0.383) deleterious(0) deleterious(0.567) NULL METTL17 64745 genome.wustl.edu 37 14 21464708 21464708 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029991.1 +1 validated p.K368T 0.999 52 0% 45 35.6% 66 50% benign(0.002) tolerated(0.71) neutral(0.002) HMMPfam_Rsm22 HNRNPC 3183 genome.wustl.edu 37 14 21702240 21702240 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077442.1 -1 reviewed p.S38L 0.999 144 0% 86 26.7% 415 43.6% benign(0.235) deleterious(0) neutral(0.468) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RPGRIP1 57096 genome.wustl.edu 37 14 21762905 21762905 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020366.3 +1 reviewed p.R52Q 0.987 141 0.7% 158 32.9% 0 - probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL RPGRIP1 57096 genome.wustl.edu 37 14 21780626 21780626 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020366.3 +1 reviewed p.R371L 1.000 111 0% 104 32.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RPGRIP1 57096 genome.wustl.edu 37 14 21780653 21780653 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020366.3 +1 reviewed p.K380T 1.000 104 0% 95 14.7% 0 - benign(0.001) deleterious(0.01) neutral(0.406) NULL CHD8 57680 genome.wustl.edu 37 14 21883117 21883117 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020920.3 -1 reviewed p.F389L 1.000 251 0% 133 38.3% 13 23% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like SALL2 6297 genome.wustl.edu 37 14 21991122 21991122 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005407.1 -1 validated p.E914K 1.000 85 0% 106 30.2% 11 45.4% benign(0.074) tolerated(0.09) neutral(0.301) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SALL2 6297 genome.wustl.edu 37 14 21992717 21992717 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005407.1 -1 validated p.F382C 1.000 66 0% 134 12.7% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR4E2 26686 genome.wustl.edu 37 14 22133482 22133482 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001912.1 +1 validated p.F62 1.000 254 0% 164 27.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 PSMB11 122706 genome.wustl.edu 37 14 23511732 23511732 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099780.1 +1 validated p.D100N 1.000 57 0% 79 36.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Proteasome,PatternScan_PROTEASOME_B,superfamily_SSF56235 CDH24 64403 genome.wustl.edu 37 14 23518888 23518888 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022478.3 -1 validated p.S553 1.000 48 0% 74 37.8% 26 50% - - - HMMPfam_Cadherin,superfamily_Cadherin-like HOMEZ 57594 genome.wustl.edu 37 14 23745179 23745179 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020834.2 -1 validated p.R420W 1.000 242 0% 199 29.1% 26 23% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Homeodomain-like MYH6 4624 genome.wustl.edu 37 14 23859509 23859509 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002471.3 -1 validated p.I1163 0.939 59 0% 123 23.6% 0 - - - - HMMPfam_Myosin_tail_1 MYH6 4624 genome.wustl.edu 37 14 23862683 23862683 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002471.3 -1 validated p.I991 0.776 252 0% 348 29.3% 0 - - - - NULL MYH6 4624 genome.wustl.edu 37 14 23863358 23863358 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002471.3 -1 validated p.S868 0.368 151 0% 182 29.1% 0 - - - - NULL MYH6 4624 genome.wustl.edu 37 14 23866254 23866254 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002471.3 -1 validated p.R696C 1.000 88 0% 94 27.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23884692 23884692 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000257.2 -1 reviewed p.K1727N 1.000 159 0% 203 34.5% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Myosin_tail_1 MYH7 4625 genome.wustl.edu 37 14 23886133 23886133 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000257.2 -1 reviewed p.R1530* 1.000 77 0% 125 35.2% 0 - - - - HMMPfam_Myosin_tail_1 NGDN 25983 genome.wustl.edu 37 14 23944463 23944463 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042635.1 +1 validated p.S76 0.943 156 0% 91 30.8% 46 19.5% - - - HMMPfam_Sas10_Utp3 AP1G2 8906 genome.wustl.edu 37 14 24033844 24033844 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003917.2 -1 reviewed p.R283Q 1.000 82 0% 108 38% 55 32.7% benign(0.362) deleterious(0) deleterious(0.559) HMMPfam_Adaptin_N,superfamily_ARM-type_fold DHRS4L1 728635 genome.wustl.edu 37 14 24511937 24511937 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001082488.1 +1 provisional p.S116L 0.002 179 0% 319 33.9% 0 - unknown(0) deleterious(0.02) - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains LRRC16B 90668 genome.wustl.edu 37 14 24528583 24528583 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138360.3 +1 validated p.S577 0.949 66 4.5% 84 33.3% 2 100% - - - HMMSmart_SM00368,superfamily_RNI-like LRRC16B 90668 genome.wustl.edu 37 14 24533551 24533551 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138360.3 +1 validated p.S1026A 0.997 57 0% 72 34.7% 5 40% unknown(0) tolerated(0.5) - NULL MDP1 145553 genome.wustl.edu 37 14 24683240 24683240 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138476.2 -1 provisional p.F174C 0.000 44 0% 83 33.7% 24 41.6% unknown(0) - - NULL TGM1 7051 genome.wustl.edu 37 14 24729894 24729894 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000359.2 -1 reviewed p.P173 0.004 114 0% 138 31.9% 3 0% - - - HMMPfam_Transglut_N,superfamily_Ig_E-set RABGGTA 5875 genome.wustl.edu 37 14 24738826 24738826 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004581.3 -1 validated p.D168Y 1.000 63 0% 122 11.5% 43 6.9% benign(0.127) deleterious(0.03) neutral(0.375) HMMPfam_PPTA,superfamily_Prenyl_trans DHRS1 115817 genome.wustl.edu 37 14 24766024 24766024 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136050.2 -1 reviewed p.R72* 0.007 96 0% 163 34.4% 96 8.3% - - - HMMPfam_adh_short,superfamily_NAD(P)-bd LTB4R 1241 genome.wustl.edu 37 14 24785548 24785548 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143919.2 +1 validated p.A231T 0.994 11 0% 19 26.3% 12 16.6% benign(0.334) tolerated(0.26) neutral(0.139) HMMPfam_7tm_1,superfamily_SSF81321 ADCY4 196883 genome.wustl.edu 37 14 24792231 24792231 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139247.2 -1 reviewed p.E741K 1.000 30 0% 54 20.4% 3 0% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL ADCY4 196883 genome.wustl.edu 37 14 24793333 24793333 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139247.2 -1 reviewed p.G661* 0.830 66 0% 109 22% 6 33.3% - - - NULL NYNRIN 57523 genome.wustl.edu 37 14 24884798 24884798 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025081.2 +1 validated p.E1281D 0.034 47 0% 64 42.2% 14 42.8% benign(0) tolerated(0.07) neutral(0.319) NULL NYNRIN 57523 genome.wustl.edu 37 14 24884933 24884933 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025081.2 +1 validated p.G1326 0.998 102 0% 145 23.4% 25 44% - - - superfamily_Ribonuclease H-like NOVA1 4857 genome.wustl.edu 37 14 26949194 26949194 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002515.2 -1 reviewed p.R146C 1.000 243 0% 160 36.2% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FOXG1 2290 genome.wustl.edu 37 14 29237880 29237880 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005249.3 +1 reviewed p.T465 1.000 92 0% 174 28.2% 16 56.2% - - - NULL G2E3 55632 genome.wustl.edu 37 14 31074788 31074788 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017769.3 +1 validated p.R363I 0.356 81 0% 54 20.4% 3 0% benign(0.167) deleterious(0.03) neutral(0.380) superfamily_HECT SCFD1 23256 genome.wustl.edu 37 14 31107337 31107337 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016106.2 +1 validated p.R107* 1.000 70 0% 29 24.1% 7 28.5% - - - HMMPfam_Sec1,superfamily_Sec1-like SCFD1 23256 genome.wustl.edu 37 14 31169431 31169431 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016106.2 +1 validated p.I459 1.000 156 0% 108 25% 26 3.8% - - - HMMPfam_Sec1,superfamily_Sec1-like COCH 1690 genome.wustl.edu 37 14 31354788 31354788 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135058.1 +1 reviewed p.E308* 1.000 297 0% 212 36.3% 3 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like STRN3 29966 genome.wustl.edu 37 14 31416358 31416358 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083893.1 -1 validated p.K218N 1.000 168 0% 120 33.3% 11 54.5% possibly_damaging(0.699) tolerated(0.34) neutral(0.275) NULL STRN3 29966 genome.wustl.edu 37 14 31424885 31424885 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083893.1 -1 validated p.K134R 1.000 191 0% 105 38.1% 19 63.1% probably_damaging(1) tolerated(0.47) deleterious(0.511) HMMPfam_Striatin HECTD1 25831 genome.wustl.edu 37 14 31572204 31572204 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015382.2 -1 validated p.L2490I 1.000 145 0% 79 36.7% 40 60% possibly_damaging(0.936) tolerated(0.36) neutral(0.402) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECTD1 25831 genome.wustl.edu 37 14 31576352 31576352 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015382.2 -1 validated p.T2242 0.927 62 0% 47 31.9% 57 24.5% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECTD1 25831 genome.wustl.edu 37 14 31618328 31618328 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015382.2 -1 validated p.R732* 1.000 248 0.4% 148 31.8% 8 25% - - - superfamily_ARM repeat HECTD1 25831 genome.wustl.edu 37 14 31647385 31647385 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015382.2 -1 validated p.E72 1.000 132 0% 79 10.1% 13 7.6% - - - superfamily_ARM repeat HEATR5A 25938 genome.wustl.edu 37 14 31790740 31790740 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015473.2 -1 validated p.P1019S 1.000 47 0% 27 37% 10 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_ARM repeat HEATR5A 25938 genome.wustl.edu 37 14 31817007 31817007 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015473.2 -1 validated p.C646G 1.000 58 0% 76 25% 5 80% benign(0.006) tolerated(0.36) neutral(0.020) superfamily_ARM repeat ARHGAP5 394 genome.wustl.edu 37 14 32563452 32563452 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001030055.1 +1 reviewed p.R1193C 1.000 105 0% 61 26.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKAP6 9472 genome.wustl.edu 37 14 33165284 33165284 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004274.4 +1 reviewed p.M990V 1.000 135 0% 83 34.9% 8 37.5% probably_damaging(0.973) deleterious(0.03) deleterious(0.779) HMMSmart_SM00150,superfamily_Spectrin repeat AKAP6 9472 genome.wustl.edu 37 14 33290843 33290843 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004274.4 +1 reviewed p.S1275* 0.029 76 0% 40 35% 12 66.6% - - - NULL NPAS3 64067 genome.wustl.edu 37 14 33525145 33525145 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000356141 +1 known p.E29* 1.000 121 0% 79 35.4% 2 0% - - - NULL SNX6 58533 genome.wustl.edu 37 14 35062322 35062322 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152233.2 -1 reviewed p.F228C 1.000 143 0% 109 34.9% 61 49.1% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_Vps5 CFL2 1073 genome.wustl.edu 37 14 35182132 35182132 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021914.7 -1 reviewed p.S147L 0.535 206 0% 382 30.1% 20 20% benign(0.072) tolerated(0.24) neutral(0.042) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins CFL2 1073 genome.wustl.edu 37 14 35182662 35182662 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021914.7 -1 reviewed p.L37I 1.000 186 0% 408 27.5% 15 33.3% benign(0.388) tolerated(0.32) neutral(0.148) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins BAZ1A 11177 genome.wustl.edu 37 14 35222876 35222876 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013448.2 -1 validated p.S1503 0.949 206 0% 144 31.2% 17 58.8% - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 SRP54 6729 genome.wustl.edu 37 14 35468845 35468845 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003136.3 +1 validated p.E54* 1.000 124 0% 105 33.3% 27 7.4% - - - HMMPfam_SRP54_N,superfamily_Domain of the SRP/SRP receptor G-proteins SRP54 6729 genome.wustl.edu 37 14 35488243 35488243 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003136.3 +1 validated p.K373N 1.000 201 0% 136 35.3% 32 25% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_SRP_SPB,superfamily_Signal peptide-binding domain PPP2R3C 55012 genome.wustl.edu 37 14 35554877 35554877 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017917.2 -1 provisional p.L427F 1.000 155 0% 175 30.3% 29 44.8% benign(0.011) tolerated(0.43) neutral(0.014) NULL INSM2 84684 genome.wustl.edu 37 14 36005038 36005038 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032594.3 +1 validated p.C527Y 1.000 32 0% 48 29.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BRMS1L 84312 genome.wustl.edu 37 14 36302296 36302296 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032352.3 +1 reviewed p.R116C 1.000 122 0% 145 29.7% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sds3 FOXA1 3169 genome.wustl.edu 37 14 38061344 38061344 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004496.2 -1 reviewed p.Q215 1.000 40 0% 92 31.5% 4 100% - - - HMMPfam_Fork_head,HMMSmart_FH,PatternScan_FORK_HEAD_2,superfamily_SSF46785 FOXA1 3169 genome.wustl.edu 37 14 38061907 38061907 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004496.2 -1 reviewed p.S28P 1.000 153 0% 303 35.3% 4 100% benign(0.132) tolerated(0.14) neutral(0.261) HMMPfam_Fork_head_N CLEC14A 161198 genome.wustl.edu 37 14 38724910 38724910 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175060.1 -1 provisional p.E106D 0.955 13 0% 26 42.3% 7 0% possibly_damaging(0.893) tolerated(0.24) neutral(0.389) HMMSmart_CLECT,superfamily_C-type_lectin_fold MIA2 117153 genome.wustl.edu 37 14 39721971 39721971 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_054024.3 +1 validated p.E529D 0.000 94 0% 50 30% 1 0% benign(0.313) deleterious(0.05) neutral(0.443) NULL CTAGE5 4253 genome.wustl.edu 37 14 39788453 39788453 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005930.3 +1 validated p.D501Y 1.000 183 0% 123 24.4% 32 34.3% possibly_damaging(0.655) deleterious(0.01) deleterious(0.636) NULL LRFN5 145581 genome.wustl.edu 37 14 42356316 42356316 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152447.3 +1 validated p.P163H 1.000 108 0% 78 20.5% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LRR_1,superfamily_SSF52058 LRFN5 145581 genome.wustl.edu 37 14 42357144 42357144 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152447.3 +1 validated p.R439I 1.000 55 0% 49 26.5% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_fn3,superfamily_FN_III-like FSCB 84075 genome.wustl.edu 37 14 44973756 44973756 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032135.3 -1 validated p.S812I 0.000 82 0% 73 32.9% 0 - possibly_damaging(0.741) deleterious(0.01) deleterious(0.677) NULL FSCB 84075 genome.wustl.edu 37 14 44973916 44973916 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032135.3 -1 validated p.E759* 0.021 43 0% 38 26.3% 0 - - - - NULL FAM179B 23116 genome.wustl.edu 37 14 45468592 45468592 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015091.2 +1 validated p.L744I 0.981 145 0% 126 29.4% 0 - benign(0) deleterious(0.01) neutral(0.406) superfamily_ARM repeat FAM179B 23116 genome.wustl.edu 37 14 45542737 45542737 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015091.2 +1 validated p.L1712 0.725 99 0% 104 31.7% 3 33.3% - - - NULL RPL10L 140801 genome.wustl.edu 37 14 47120502 47120502 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080746.2 -1 reviewed p.E146D 1.000 73 0% 110 27.3% 0 - benign(0.036) tolerated(0.6) neutral(0.006) HMMPfam_Ribosomal_L16,superfamily_Ribosomal_L10e/L16 MDGA2 161357 genome.wustl.edu 37 14 47314984 47314984 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113498.1 -1 validated p.D923Y 1.000 128 0% 132 35.6% 0 - possibly_damaging(0.697) deleterious(0.05) deleterious(0.595) NULL MDGA2 161357 genome.wustl.edu 37 14 47504324 47504324 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113498.1 -1 validated p.R501M 1.000 143 0% 90 36.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 MDGA2 161357 genome.wustl.edu 37 14 47530617 47530617 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113498.1 -1 validated p.R385W 1.000 116 0% 32 18.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 MGAT2 4247 genome.wustl.edu 37 14 50089217 50089220 + Frame_Shift_Del DEL CTAA CTAA - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 CTAA CTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002408.3 +1 reviewed p.T412fs 0.982:0.985:0.001:0.000 - - - - - - - - - HMMPfam_MGAT2 DNAAF2 55172 genome.wustl.edu 37 14 50100132 50100132 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018139.2 -1 reviewed p.K579T 0.717 121 0% 229 10.9% 18 11.1% probably_damaging(0.999) tolerated(0.74) deleterious(0.492) NULL KLHDC2 23588 genome.wustl.edu 37 14 50244959 50244959 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014315.2 +1 validated p.F177 1.000 403 0% 247 31.2% 43 41.8% - - - superfamily_Galactose oxidase central domain NEMF 9147 genome.wustl.edu 37 14 50256258 50256258 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004713.3 -1 validated p.D885Y 1.000 288 0% 108 30.6% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEMF 9147 genome.wustl.edu 37 14 50267382 50267382 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004713.3 -1 validated p.E710* 1.000 202 0% 164 26.2% 17 0% - - - NULL SOS2 6655 genome.wustl.edu 37 14 50600912 50600912 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006939.2 -1 validated p.E1002* 1.000 198 0% 93 26.9% 9 22.2% - - - HMMSmart_RasGEF,superfamily_Ras_GEF SOS2 6655 genome.wustl.edu 37 14 50655256 50655256 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006939.2 -1 validated p.R225* 1.000 86 0% 50 32% 2 50% - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain MAP4K5 11183 genome.wustl.edu 37 14 50906781 50906781 + Missense_Mutation SNP C C T rs55997280 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006575.3 -1 reviewed p.R552Q 1.000 168 0% 56 23.2% 12 41.6% possibly_damaging(0.827) tolerated(0.25) neutral(0.351) HMMPfam_CNH,HMMSmart_SM00036 NIN 51199 genome.wustl.edu 37 14 51223677 51223677 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020921.3 -1 reviewed p.I1357 0.000 145 0.7% 108 22.2% 2 0% - - - NULL NIN 51199 genome.wustl.edu 37 14 51224434 51224434 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020921.3 -1 reviewed p.S1105Y 0.000 169 0% 179 31.8% 1 0% benign(0.15) deleterious(0.01) neutral(0.419) NULL PYGL 5836 genome.wustl.edu 37 14 51404532 51404532 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002863.4 -1 reviewed p.E89D 1.000 144 0% 160 26.3% 62 62.9% possibly_damaging(0.952) deleterious(0) deleterious(0.840) superfamily_SSF53756 TRIM9 114088 genome.wustl.edu 37 14 51446043 51446043 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000338969 -1 known p.R792K 0.005 76 0% 30 20% 0 - benign(0) tolerated(1) - NULL GNG2 54331 genome.wustl.edu 37 14 52433295 52433295 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053064.3 +1 validated p.D36Y 1.000 70 0% 48 29.2% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain C14orf166 51637 genome.wustl.edu 37 14 52458135 52458135 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016039.2 +1 validated p.S54 0.419 98 0% 161 38.5% 161 32.2% - - - HMMPfam_RLL NID2 22795 genome.wustl.edu 37 14 52507395 52507395 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007361.3 -1 validated p.K667M 1.000 228 0% 105 26.7% 7 0% probably_damaging(0.979) deleterious(0.03) deleterious(0.786) HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like NID2 22795 genome.wustl.edu 37 14 52520585 52520585 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007361.3 -1 validated p.G381C 0.000 145 0% 75 26.7% 6 0% possibly_damaging(0.859) tolerated(0.07) deleterious(0.651) NULL PTGDR 5729 genome.wustl.edu 37 14 52734862 52734862 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000953.2 +1 reviewed p.F110L 1.000 59 0% 106 35.8% 1 100% probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_7tm_1,superfamily_SSF81321 PSMC6 5706 genome.wustl.edu 37 14 53185743 53185743 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002806.3 +1 reviewed p.R269I 1.000 191 0% 169 34.3% 87 43.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases GNPNAT1 64841 genome.wustl.edu 37 14 53251323 53251323 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198066.3 -1 validated p.E16* 1.000 100 0% 138 29% 16 56.2% - - - NULL DDHD1 80821 genome.wustl.edu 37 14 53521254 53521254 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030637.2 -1 validated p.S780* 0.005 131 0% 96 31.2% 8 37.5% - - - HMMPfam_DDHD DDHD1 80821 genome.wustl.edu 37 14 53522414 53522414 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030637.2 -1 validated p.E737* 1.000 232 0% 171 33.3% 3 66.6% - - - HMMPfam_DDHD DDHD1 80821 genome.wustl.edu 37 14 53529787 53529787 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030637.2 -1 validated p.M547T 1.000 122 0% 134 9.7% 4 0% possibly_damaging(0.672) deleterious(0) deleterious(0.682) NULL BMP4 652 genome.wustl.edu 37 14 54417022 54417022 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001202.3 -1 reviewed p.D319N 1.000 70 0% 118 33.1% 5 0% possibly_damaging(0.62) deleterious(0) deleterious(0.660) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines CDKN3 1033 genome.wustl.edu 37 14 54866653 54866653 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005192.3 +1 reviewed p.E17 1.000 90 0% 193 11.9% 24 16.6% - - - HMMPfam_CDKN3 WDHD1 11169 genome.wustl.edu 37 14 55411081 55411081 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007086.2 -1 reviewed p.R1053Q 1.000 371 0% 229 30.1% 2 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_HMG,superfamily_HMG-box,superfamily_WD40_like WDHD1 11169 genome.wustl.edu 37 14 55423802 55423802 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007086.2 -1 reviewed p.E956* 0.815 193 0% 99 37.4% 2 0% - - - superfamily_WD40_like KTN1 3895 genome.wustl.edu 37 14 56078857 56078857 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079521.1 +1 validated p.E31* 1.000 120 0% 73 27.4% 7 14.2% - - - NULL KTN1 3895 genome.wustl.edu 37 14 56133986 56133986 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079521.1 +1 validated p.E1069K 1.000 200 0% 81 28.4% 45 77.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL KTN1 3895 genome.wustl.edu 37 14 56138548 56138548 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079521.1 +1 validated p.N1162H 1.000 140 0% 75 29.3% 78 11.5% possibly_damaging(0.753) deleterious(0.03) deleterious(0.641) NULL MUDENG 55745 genome.wustl.edu 37 14 57741320 57741320 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018229.3 +1 validated p.G145C 0.052 98 0% 122 27% 7 42.8% possibly_damaging(0.888) tolerated(0.1) deleterious(0.634) NULL PSMA3 5684 genome.wustl.edu 37 14 58737155 58737155 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002788.2 +1 reviewed p.E204K 1.000 200 0% 114 23.7% 180 41.6% benign(0.009) deleterious(0) neutral(0.445) HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) DACT1 51339 genome.wustl.edu 37 14 59107453 59107453 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016651.5 +1 validated e2-1 1.000 58 0% 129 27.9% 0 - - - - - DAAM1 23002 genome.wustl.edu 37 14 59806864 59806864 + Missense_Mutation SNP C C T rs181718144 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014992.1 +1 reviewed p.R691W 1.000 147 0% 72 38.9% 13 61.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) C14orf38 729665 genome.wustl.edu 37 14 60030574 60030574 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000281581 -1 known p.N242H 0.000 224 0% 108 28.7% 0 - possibly_damaging(0.644) tolerated(0.17) neutral(0.284) NULL C14orf38 729665 genome.wustl.edu 37 14 60035015 60035015 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000281581 -1 known p.E147* 0.001 427 0% 310 27.1% 0 - - - - NULL RTN1 6252 genome.wustl.edu 37 14 60072155 60072155 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021136.2 -1 reviewed p.F681L 0.976 51 0% 45 22.2% 13 7.6% benign(0) tolerated(0.47) neutral(0.011) HMMPfam_Reticulon LOC100286978 100286978 genome.wustl.edu 37 14 60212419 60212419 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343277.1 +1 model p.P83S 0.000 119 0% 70 25.7% 0 - - - - NULL RTN1 6252 genome.wustl.edu 37 14 60212801 60212801 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021136.2 -1 reviewed p.E214K 0.000 282 0% 152 25.7% 1 0% benign(0) tolerated(0.47) neutral(0.011) NULL DHRS7 51635 genome.wustl.edu 37 14 60622777 60622777 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016029.2 -1 validated p.S76F 0.992 147 0% 111 30.6% 180 48.8% possibly_damaging(0.774) deleterious(0.01) deleterious(0.694) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains C14orf39 317761 genome.wustl.edu 37 14 60935176 60935176 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174978.2 -1 validated p.E252* 1.000 282 0% 106 22.6% 0 - - - - NULL C14orf39 317761 genome.wustl.edu 37 14 60951623 60951623 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174978.2 -1 validated p.E28* 1.000 204 0% 392 39.3% 0 - - - - NULL SIX1 6495 genome.wustl.edu 37 14 61113285 61113285 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005982.3 -1 reviewed p.E191K 1.000 114 0% 210 31.4% 9 44.4% benign(0.35) deleterious(0) deleterious(0.555) superfamily_Homeodomain-like SIX1 6495 genome.wustl.edu 37 14 61115710 61115710 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005982.3 -1 reviewed p.L66 1.000 47 0% 89 37.1% 17 52.9% - - - NULL TRMT5 57570 genome.wustl.edu 37 14 61446182 61446182 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020810.2 -1 validated p.I145T 0.923 164 0% 224 29.5% 9 22.2% benign(0.018) tolerated(0.09) neutral(0.297) NULL HIF1A 3091 genome.wustl.edu 37 14 62188361 62188361 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001530.3 +1 validated p.G121* 1.000 241 0.4% 100 19% 46 2.1% - - - HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) SNAPC1 6617 genome.wustl.edu 37 14 62245592 62245592 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003082.3 +1 validated p.A263 0.921 183 0% 140 31.4% 7 42.8% - - - NULL KCNH5 27133 genome.wustl.edu 37 14 63175013 63175013 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139318.3 -1 reviewed p.G727D 0.636 87 0% 91 34.1% 2 0% benign(0) tolerated(0.14) neutral(0.249) NULL KCNH5 27133 genome.wustl.edu 37 14 63316371 63316371 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139318.3 -1 reviewed p.K523N 1.000 149 0% 133 31.6% 0 - possibly_damaging(0.747) tolerated(0.18) neutral(0.330) superfamily_cAMP-binding domain-like KCNH5 27133 genome.wustl.edu 37 14 63416839 63416839 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000453406 -1 known p.N403H 0.000 64 0% 35 25.7% 0 - benign(0.004) deleterious(0.02) neutral(0.383) superfamily_SSF81324 KCNH5 27133 genome.wustl.edu 37 14 63447862 63447862 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139318.3 -1 reviewed p.L224I 1.000 134 0% 62 25.8% 2 0% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) superfamily_Voltage-gated potassium channels SYNE2 23224 genome.wustl.edu 37 14 64445596 64445596 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182914.2 +1 reviewed p.F478C 0.000 118 0% 101 24.8% 0 - probably_damaging(0.987) - - superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64537607 64537607 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182914.2 +1 reviewed p.S3559Y 0.052 57 0% 41 41.5% 0 - probably_damaging(0.998) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64687201 64687201 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182914.2 +1 reviewed p.V6636A 0.997 75 0% 61 11.5% 34 2.9% unknown(0) - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin ENSG00000249603 0 genome.wustl.edu 37 14 65067446 65067446 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000509438 +1 novel NULL 0.297 109 0% 168 29.2% 0 - - - - - PLEKHG3 26030 genome.wustl.edu 37 14 65210241 65210241 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015549.1 +1 validated p.E1104 0.566 24 0% 36 36.1% 38 36.8% - - - NULL RAB15 376267 genome.wustl.edu 37 14 65417855 65417855 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198686.2 -1 validated p.V87 1.000 60 0% 39 25.6% 10 60% - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 FUT8 2530 genome.wustl.edu 37 14 66083014 66083014 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178154.1 +1 reviewed p.K135N 1.000 67 0% 57 31.6% 15 26.6% benign(0.078) tolerated(0.5) neutral(0.015) NULL FUT8 2530 genome.wustl.edu 37 14 66199966 66199966 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178154.1 +1 reviewed p.F426C 1.000 107 0% 44 29.5% 27 59.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GPHN 10243 genome.wustl.edu 37 14 67589024 67589024 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020806.4 +1 reviewed p.R560C 1.000 136 0% 108 34.3% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MoCF_biosynth,superfamily_MoCF_biosynth MPP5 64398 genome.wustl.edu 37 14 67768806 67768806 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022474.2 +1 validated p.R258C 1.000 162 0% 84 32.1% 10 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PDZ,superfamily_PDZ domain-like MPP5 64398 genome.wustl.edu 37 14 67787844 67787844 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022474.2 +1 validated p.F536 0.988 174 0% 124 29.8% 21 38% - - - HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases PIGH 5283 genome.wustl.edu 37 14 68060598 68060598 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004569.3 -1 reviewed p.K84N 1.000 106 0% 127 37.8% 25 32% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL RDH12 145226 genome.wustl.edu 37 14 68191196 68191196 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152443.2 +1 reviewed p.F25L 0.995 394 0% 317 28.4% 0 - benign(0.037) tolerated(0.31) neutral(0.029) NULL KIAA0247 9766 genome.wustl.edu 37 14 70177688 70177688 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014734.3 +1 validated p.E302* 1.000 166 0% 138 29.7% 28 32.1% - - - NULL SRSF5 6430 genome.wustl.edu 37 14 70235391 70235391 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039465.1 +1 validated p.R66M 1.000 260 0% 558 29.9% 395 36.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SRSF5 6430 genome.wustl.edu 37 14 70237773 70237773 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039465.1 +1 validated p.E168K 1.000 324 0% 375 34.1% 174 36.7% probably_damaging(0.976) deleterious(0.02) deleterious(0.801) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SRSF5 6430 genome.wustl.edu 37 14 70237967 70237967 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039465.1 +1 validated p.R203Q 0.999 112 0% 116 26.7% 468 42.3% unknown(0) tolerated(0.14) - superfamily_RNA-binding domain RBD SLC8A3 6547 genome.wustl.edu 37 14 70634017 70634017 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183002.1 -1 reviewed p.E375* 1.000 71 0% 44 36.4% 0 - - - - NULL ENSG00000235812 0 genome.wustl.edu 37 14 70713056 70713056 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000433248 -1 known p.R271M 0.000 67 0% 87 32.2% 0 - - - - HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) ADAM20 8748 genome.wustl.edu 37 14 70991384 70991384 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003814.4 -1 reviewed p.A81T 0.006 67 0% 42 38.1% 0 - benign(0.004) tolerated(0.58) neutral(0.005) HMMPfam_Pep_M12B_propep MED6 10001 genome.wustl.edu 37 14 71063403 71063403 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005466.2 -1 validated p.E67K 1.000 77 0% 147 42.2% 38 39.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MED6 MAP3K9 4293 genome.wustl.edu 37 14 71199707 71199707 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033141.2 -1 validated p.R807 0.912 54 0% 80 33.8% 3 33.3% - - - NULL SIPA1L1 26037 genome.wustl.edu 37 14 72055106 72055106 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015556.1 +1 provisional p.R173* 1.000 71 0% 38 26.3% 8 37.5% - - - NULL SIPA1L1 26037 genome.wustl.edu 37 14 72055247 72055247 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015556.1 +1 provisional p.E220K 1.000 103 0% 51 19.6% 7 28.5% possibly_damaging(0.868) deleterious(0.01) deleterious(0.743) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72139094 72139094 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015556.1 +1 provisional p.E953D 1.000 82 0% 83 28.9% 27 37% possibly_damaging(0.678) tolerated(0.27) neutral(0.275) HMMPfam_PDZ,superfamily_PDZ domain-like DPF3 8110 genome.wustl.edu 37 14 73198531 73198531 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012074.3 -1 provisional p.S138I 0.927 110 0% 104 34.6% 1 0% benign(0.41) tolerated(0.07) neutral(0.452) NULL ZFYVE1 53349 genome.wustl.edu 37 14 73464710 73464710 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021260.1 -1 reviewed p.R266Q 1.000 89 0% 52 26.9% 12 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases ZFYVE1 53349 genome.wustl.edu 37 14 73491166 73491166 + Missense_Mutation SNP C C T rs147351573 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021260.1 -1 reviewed p.M17I 0.870 79 0% 106 15.1% 15 6.6% benign(0) tolerated(0.35) neutral(0.021) NULL HEATR4 399671 genome.wustl.edu 37 14 73961944 73961944 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203309.1 -1 provisional p.E878* 0.225 218 0% 323 32.5% 2 50% - - - NULL PTGR2 145482 genome.wustl.edu 37 14 74340773 74340773 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152444.2 +1 reviewed p.W68* 1.000 189 0.5% 177 27.1% 2 0% - - - superfamily_GroES-like PTGR2 145482 genome.wustl.edu 37 14 74347957 74347957 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152444.2 +1 reviewed p.L301I 0.977 120 0% 136 33.1% 1 100% benign(0.026) tolerated(0.23) neutral(0.043) superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains ZNF410 57862 genome.wustl.edu 37 14 74360554 74360554 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021188.1 +1 provisional p.E30* 1.000 162 0% 167 36.5% 27 48.1% - - - NULL FAM161B 145483 genome.wustl.edu 37 14 74413218 74413218 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152445.1 -1 predicted p.E49K 0.958 66 0% 115 30.4% 3 100% possibly_damaging(0.489) deleterious(0.02) deleterious(0.545) NULL C14orf45 80127 genome.wustl.edu 37 14 74516840 74516840 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025057.2 +1 validated p.D410Y 1.000 57 0% 38 28.9% 3 66.6% probably_damaging(0.959) deleterious(0.04) deleterious(0.752) NULL KIAA0317 9870 genome.wustl.edu 37 14 75136387 75136387 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039479.1 -1 validated p.E627* 1.000 276 0% 151 37.1% 8 12.5% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain KIAA0317 9870 genome.wustl.edu 37 14 75139605 75139605 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039479.1 -1 validated p.R451W 1.000 107 0% 87 40.2% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0317 9870 genome.wustl.edu 37 14 75151355 75151355 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039479.1 -1 validated p.F15L 1.000 34 0% 22 40.9% 7 42.8% benign(0.005) tolerated(0.32) neutral(0.024) NULL MLH3 27030 genome.wustl.edu 37 14 75515173 75515173 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040108.1 -1 reviewed p.N396H 1.000 97 0% 143 30.1% 0 - unknown(0) deleterious(0.01) - NULL ZC2HC1C 79696 genome.wustl.edu 37 14 75538399 75538399 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024643.2 +1 validated p.D375Y 0.009 29 0% 43 32.6% 1 0% possibly_damaging(0.907) deleterious(0) deleterious(0.805) NULL TTLL5 23093 genome.wustl.edu 37 14 76286476 76286476 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015072.4 +1 reviewed p.E1100K 0.965 58 1.7% 34 44.1% 19 47.3% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL TGFB3 7043 genome.wustl.edu 37 14 76446913 76446913 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003239.2 -1 reviewed p.F108 1.000 176 0% 257 31.1% 35 42.8% - - - HMMPfam_TGFb_propeptide IFT43 112752 genome.wustl.edu 37 14 76549621 76549621 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052873.2 +1 validated p.E171K 1.000 120 0% 98 33.7% 77 48% probably_damaging(0.998) tolerated(0.39) deleterious(0.490) NULL C14orf118 55668 genome.wustl.edu 37 14 76621242 76621242 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017926.2 +1 validated p.S179* 1.000 83 0% 120 25.8% 10 0% - - - NULL C14orf166B 145497 genome.wustl.edu 37 14 77294739 77294739 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194287.2 +1 validated p.S65L 0.867 66 0% 60 25% 0 - probably_damaging(0.958) tolerated(0.28) neutral(0.433) NULL C14orf166B 145497 genome.wustl.edu 37 14 77297559 77297559 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194287.2 +1 validated p.F77L 0.364 85 0% 99 14.1% 0 - benign(0.005) tolerated(0.68) neutral(0.002) NULL C14orf166B 145497 genome.wustl.edu 37 14 77311207 77311207 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_194287.2 +1 validated p.F230L 1.000 125 0% 91 29.7% 1 0% unknown(0) tolerated(0.08) - HMMPfam_LRR_1,HMMSmart_SM00368,superfamily_RNI-like POMT2 29954 genome.wustl.edu 37 14 77778319 77778319 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013382.5 -1 reviewed p.F102L 1.000 124 0% 122 27.9% 12 58.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) PatternScan_SERPIN,HMMPfam_PMT SAMD15 161394 genome.wustl.edu 37 14 77844779 77844779 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010860.1 +1 provisional p.E340* 0.000 47 0% 74 20.3% 0 - - - - NULL C14orf133 63894 genome.wustl.edu 37 14 77895373 77895373 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022067.2 -1 provisional p.F444L 1.000 71 0% 50 26% 43 48.8% benign(0.111) tolerated(0.55) neutral(0.015) HMMPfam_Golgin_A5 ISM2 145501 genome.wustl.edu 37 14 77942412 77942412 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199296.2 -1 reviewed p.F414 1.000 17 0% 28 42.9% 0 - - - - HMMPfam_AMOP,HMMSmart_SM00723 SPTLC2 9517 genome.wustl.edu 37 14 78063663 78063663 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004863.2 -1 validated p.E65* 1.000 179 0% 129 35.7% 9 0% - - - NULL ADCK1 57143 genome.wustl.edu 37 14 78353434 78353434 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020421.3 +1 validated p.I142V 1.000 108 0% 97 12.4% 14 14.2% benign(0) tolerated(1) - HMMPfam_ABC1,superfamily_Kinase_like DIO2 1734 genome.wustl.edu 37 14 80669113 80669113 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007023.2 -1 reviewed p.F283L 1.000 112 0% 68 38.2% 3 0% probably_damaging(0.974) tolerated(0.62) neutral(0.420) HMMPfam_T4_deiodinase CEP128 145508 genome.wustl.edu 37 14 81244383 81244383 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152446.3 -1 validated p.S740I 0.881 83 0% 68 35.3% 0 - possibly_damaging(0.903) deleterious(0.05) deleterious(0.704) NULL CEP128 145508 genome.wustl.edu 37 14 81251670 81251670 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152446.3 -1 validated p.E594K 0.997 225 0% 163 14.7% 1 100% unknown(0) tolerated(0.45) - NULL DYNLL1P1 246720 genome.wustl.edu 37 14 81712677 81712677 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000380761 -1 known p.Y77 1.000 43 0% 101 15.8% 7 0% - - - HMMPfam_Dynein_light,superfamily_DLC KCNK10 54207 genome.wustl.edu 37 14 88652107 88652107 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138317.2 -1 reviewed p.K468N 1.000 129 0% 219 26.9% 0 - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL KCNK10 54207 genome.wustl.edu 37 14 88652167 88652167 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138317.2 -1 reviewed p.I448 1.000 102 0% 166 36.7% 0 - - - - NULL KCNK10 54207 genome.wustl.edu 37 14 88658647 88658647 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138317.2 -1 reviewed p.I263 0.012 83 0% 91 28.6% 0 - - - - HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels PTPN21 11099 genome.wustl.edu 37 14 88951486 88951486 + Missense_Mutation SNP C C T rs139338619 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007039.3 -1 reviewed p.V338M 1.000 194 0% 244 33.6% 5 60% benign(0) tolerated(0.53) neutral(0.007) superfamily_PH domain-like PTPN21 11099 genome.wustl.edu 37 14 88974355 88974355 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007039.3 -1 reviewed p.Y120* 1.000 135 0% 93 31.2% 2 50% - - - HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 ZC3H14 79882 genome.wustl.edu 37 14 89042217 89042217 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024824.4 +1 validated p.K352N 1.000 169 0% 153 26.8% 37 40.5% probably_damaging(0.973) deleterious(0) deleterious(0.859) NULL EML5 161436 genome.wustl.edu 37 14 89110800 89110800 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183387.2 -1 validated p.G1362S 1.000 244 0% 102 23.5% 0 - benign(0.002) tolerated(0.75) neutral(0.002) HMMPfam_HELP EML5 161436 genome.wustl.edu 37 14 89171222 89171222 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183387.2 -1 validated p.R678Q 0.996 261 0% 70 35.7% 0 - benign(0.164) tolerated(0.47) neutral(0.026) HMMPfam_HELP EML5 161436 genome.wustl.edu 37 14 89202903 89202903 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_183387.2 -1 validated p.S285Y 1.000 124 0% 179 30.7% 0 - benign(0.208) tolerated(0.36) neutral(0.040) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase TTC8 123016 genome.wustl.edu 37 14 89310167 89310167 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144596.2 +1 reviewed p.I199 0.990 216 0% 61 23% 11 9% possibly_damaging(0.578) - - NULL EFCAB11 90141 genome.wustl.edu 37 14 90263628 90263628 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145231.2 -1 validated p.D151Y 1.000 145 0% 134 21.6% 14 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,PatternScan_EF_HAND_1,superfamily_EF-hand EFCAB11 90141 genome.wustl.edu 37 14 90397906 90397906 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145231.2 -1 validated p.R130M 0.988 186 0% 116 25% 13 15.3% probably_damaging(0.961) tolerated(0.05) deleterious(0.750) superfamily_EF-hand EFCAB11 90141 genome.wustl.edu 37 14 90420315 90420315 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145231.2 -1 validated p.G36* 1.000 219 0% 392 25.5% 7 14.2% - - - HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand KCNK13 56659 genome.wustl.edu 37 14 90650504 90650504 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022054.2 +1 reviewed p.I128 0.999 120 0% 121 28.9% 0 - - - - HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels KCNK13 56659 genome.wustl.edu 37 14 90651281 90651281 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022054.2 +1 reviewed p.F387L 1.000 17 0% 19 42.1% 3 0% benign(0.072) tolerated(0.34) neutral(0.028) NULL C14orf102 55051 genome.wustl.edu 37 14 90754745 90754745 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017970.2 -1 validated p.K992Q 0.000 175 0% 154 34.4% 15 60% benign(0.001) tolerated(0.37) neutral(0.019) NULL C14orf102 55051 genome.wustl.edu 37 14 90769176 90769176 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017970.2 -1 validated p.S433 0.002 94 0% 119 25.2% 4 25% - - - HMMPfam_DUF1740,superfamily_Prenyl_trans GPR68 8111 genome.wustl.edu 37 14 91700620 91700620 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003485.3 -1 validated p.D269N 0.004 17 0% 23 21.7% 9 11.1% benign(0) tolerated(0.82) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 SMEK1 55671 genome.wustl.edu 37 14 91931760 91931760 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032560.4 -1 validated p.A542V 1.000 105 0% 74 31.1% 25 36% benign(0.156) deleterious(0.04) neutral(0.363) superfamily_ARM-type_fold TC2N 123036 genome.wustl.edu 37 14 92249535 92249535 + Missense_Mutation SNP C C T rs144878256 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128595.1 -1 validated p.S461N 1.000 271 0% 160 26.3% 20 35% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FBLN5 10516 genome.wustl.edu 37 14 92361324 92361324 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006329.3 -1 reviewed p.G158R 1.000 81 0% 63 39.7% 36 36.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin TRIP11 9321 genome.wustl.edu 37 14 92480781 92480781 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004239.3 -1 reviewed p.L322V 0.969 225 0% 131 10.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CPSF2 53981 genome.wustl.edu 37 14 92622953 92622953 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017437.1 +1 validated p.T525A 0.000 136 0% 121 44.6% 11 27.2% benign(0) tolerated(0.59) neutral(0.004) NULL CPSF2 53981 genome.wustl.edu 37 14 92624012 92624012 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017437.1 +1 validated p.V535 0.999 81 0% 70 47.1% 13 23% - - - HMMPfam_RMMBL RIN3 79890 genome.wustl.edu 37 14 93043733 93043733 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024832.3 +1 validated p.S93L 0.000 77 0% 45 35.6% 14 0% unknown(0) tolerated(0.57) - HMMSmart_SM00252,superfamily_SH2 domain RIN3 79890 genome.wustl.edu 37 14 93118825 93118825 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024832.3 +1 validated p.P477 0.001 103 0% 131 39.7% 11 9% - - - NULL UNC79 57578 genome.wustl.edu 37 14 94067037 94067037 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020818.3 +1 validated p.F988L 1.000 252 0% 126 33.3% 0 - possibly_damaging(0.882) tolerated(0.11) deleterious(0.616) NULL ASB2 51676 genome.wustl.edu 37 14 94405571 94405571 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016150.3 -1 reviewed p.C452 1.000 7 0.000 13 0.462 9 11.1% - - - PatternScan_ODR_DC_2_1,superfamily_Ankyrin repeat,PatternScan_C_TYPE_LECTIN_1 DDX24 57062 genome.wustl.edu 37 14 94545740 94545740 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020414.3 -1 reviewed p.E117* 0.127 334 0% 466 30% 26 7.6% - - - NULL PPP4R4 57718 genome.wustl.edu 37 14 94700081 94700081 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058237.1 +1 reviewed p.K203T 1.000 109 0% 76 30.3% 0 - possibly_damaging(0.61) deleterious(0.03) deleterious(0.576) superfamily_ARM repeat PPP4R4 57718 genome.wustl.edu 37 14 94703942 94703942 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058237.1 +1 reviewed p.E258* 1.000 158 0% 136 24.3% 0 - - - - HMMPfam_HEAT,superfamily_ARM repeat PPP4R4 57718 genome.wustl.edu 37 14 94716580 94716580 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058237.1 +1 reviewed p.E561 0.997 171 0% 83 18.1% 0 - - - - superfamily_ARM repeat PPP4R4 57718 genome.wustl.edu 37 14 94725144 94725144 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058237.1 +1 reviewed p.E679K 1.000 141 0% 113 37.2% 0 - possibly_damaging(0.649) tolerated(0.17) neutral(0.287) NULL SERPINA9 327657 genome.wustl.edu 37 14 94935557 94935557 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175739.3 -1 validated p.F225L 1.000 32 0% 22 36.4% 0 - possibly_damaging(0.496) tolerated(0.19) neutral(0.215) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINA4 5267 genome.wustl.edu 37 14 95029937 95029937 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006215.2 +1 provisional p.L40M 0.000 31 0% 19 52.6% 2 100% benign(0.002) tolerated(0.25) neutral(0.037) superfamily_Prot_inh_serpin DICER1 23405 genome.wustl.edu 37 14 95572486 95572486 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030621.3 -1 reviewed p.F960C 1.000 150 0% 93 28% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAZ,superfamily_SSF101690 DICER1 23405 genome.wustl.edu 37 14 95577681 95577681 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030621.3 -1 reviewed p.T743 0.764 234 0% 184 29.9% 14 57.1% - - - NULL DICER1 23405 genome.wustl.edu 37 14 95595877 95595877 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030621.3 -1 reviewed p.K222N 1.000 84 0% 82 25.6% 1 100% probably_damaging(0.995) tolerated(0.18) deleterious(0.514) HMMSmart_DEXDc,superfamily_SSF52540 LOC100287786 100287786 genome.wustl.edu 37 14 95898431 95898431 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343255.1 +1 model p.R65W 0.053 142 0% 164 33.5% 0 - - - - NULL C14orf49 161176 genome.wustl.edu 37 14 95898444 95898444 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152592.3 -1 validated p.S900Y 0.999 140 0% 174 25.9% 1 0% possibly_damaging(0.46) tolerated(0.06) deleterious(0.474) NULL BDKRB2 624 genome.wustl.edu 37 14 96707757 96707757 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000623.3 +1 reviewed p.E364D 0.033 46 0% 32 37.5% 1 0% benign(0.004) tolerated(0.25) neutral(0.037) superfamily_Family A G protein-coupled receptor-like ATG2B 55102 genome.wustl.edu 37 14 96758410 96758410 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018036.5 -1 validated p.P1818S 1.000 227 0% 200 33% 10 20% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL PAPOLA 10914 genome.wustl.edu 37 14 96997831 96997831 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032632.3 +1 validated p.R172I 1.000 386 0% 294 30.6% 100 47% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_NTP_transf_2,HMMPfam_PAP_central,superfamily_Nucleotidyltransferase C14orf177 283598 genome.wustl.edu 37 14 99182659 99182659 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182560.1 +1 provisional p.S44Y 0.000 46 0% 38 13.2% 0 - benign(0.201) - - NULL C14orf177 283598 genome.wustl.edu 37 14 99183496 99183496 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182560.1 +1 provisional p.S88Y 0.000 84 0% 51 17.6% 0 - benign(0.201) - - NULL HHIPL1 84439 genome.wustl.edu 37 14 100118834 100118834 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127258.1 +1 validated p.D177N 0.967 37 0% 87 32.2% 2 0% benign(0.293) tolerated(0.18) neutral(0.146) superfamily_Soluble quinoprotein glucose dehydrogenase RTL1 388015 genome.wustl.edu 37 14 101347737 101347737 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134888.2 -1 reviewed p.S1130L 0.002 21 0% 43 34.9% 1 0% benign(0.013) deleterious(0) neutral(0.445) NULL RTL1 388015 genome.wustl.edu 37 14 101348046 101348046 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134888.2 -1 reviewed p.S1027L 0.000 132 0% 208 36.1% 0 - benign(0.001) deleterious(0.04) neutral(0.349) NULL RTL1 388015 genome.wustl.edu 37 14 101348878 101348878 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134888.2 -1 reviewed p.R750C 0.887 104 0% 180 12.8% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_DNA/RNA polymerases MIR496 574454 genome.wustl.edu 37 14 101526991 101526991 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000385226 +1 known NULL 0.998 120 0% 170 30.6% 0 - - - - - DYNC1H1 1778 genome.wustl.edu 37 14 102442114 102442114 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001376.4 +1 reviewed p.H108N 1.000 87 0% 110 35.5% 12 66.6% benign(0.013) tolerated(0.39) neutral(0.017) NULL DYNC1H1 1778 genome.wustl.edu 37 14 102471488 102471488 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001376.4 +1 reviewed p.S1783I 1.000 32 0% 42 28.6% 50 34% benign(0.003) tolerated(0.17) neutral(0.059) NULL MOK 5891 genome.wustl.edu 37 14 102729926 102729926 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014226.1 -1 provisional p.L80 0.998 187 0% 335 33.4% 9 44.4% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNF839 55778 genome.wustl.edu 37 14 102805447 102805447 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018335.3 +1 validated p.L605R 0.009 113 0% 92 21.7% 13 30.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RCOR1 23186 genome.wustl.edu 37 14 103187380 103187380 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015156.2 +1 validated p.E361* 1.000 157 0% 106 31.1% 5 0% - - - NULL CDC42BPB 9578 genome.wustl.edu 37 14 103442034 103442034 + Missense_Mutation SNP C C A rs113291152 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006035.3 -1 reviewed p.K498N 1.000 352 0% 589 28.5% 34 44.1% possibly_damaging(0.936) deleterious(0.04) deleterious(0.730) NULL BAG5 9529 genome.wustl.edu 37 14 104026748 104026748 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001015049.1 -1 reviewed p.L293V 0.378 165 0% 351 31.6% 22 36.3% possibly_damaging(0.921) deleterious(0) deleterious(0.816) HMMPfam_BAG,HMMSmart_SM00264,superfamily_BAG domain KLC1 3831 genome.wustl.edu 37 14 104153422 104153422 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130107.1 +1 reviewed p.G552D 1.000 124 0% 176 26.1% 46 39.1% benign(0.341) tolerated(0.15) neutral(0.348) NULL PPP1R13B 23368 genome.wustl.edu 37 14 104220488 104220488 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015316.2 -1 reviewed p.E184* 1.000 294 0% 286 23.8% 16 18.7% - - - NULL ASPG 374569 genome.wustl.edu 37 14 104561913 104561913 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080464.1 +1 provisional p.D117Y 0.999 61 0% 128 22.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Asparaginase,PatternScan_ASN_GLN_ASE_2,superfamily_Glutaminase/Asparaginase ASPG 374569 genome.wustl.edu 37 14 104570007 104570007 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080464.1 +1 provisional p.A250T 0.434 21 0% 28 21.4% 0 - benign(0.004) tolerated(0.44) neutral(0.013) HMMPfam_Asparaginase,superfamily_Glutaminase/Asparaginase INF2 64423 genome.wustl.edu 37 14 105176013 105176013 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022489.3 +1 validated p.H703Q 0.862 26 0% 56 26.8% 70 31.4% benign(0) tolerated(0.57) neutral(0.006) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) AKT1 207 genome.wustl.edu 37 14 105239274 105239274 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001014431.1 -1 reviewed p.T371 0.871 69 0% 129 31.8% 186 44.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AHNAK2 113146 genome.wustl.edu 37 14 105411846 105411846 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138420.2 -1 validated p.K3314N 0.985 148 0% 214 26.6% 0 - unknown(0) tolerated(0.13) - NULL AHNAK2 113146 genome.wustl.edu 37 14 105411853 105411853 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138420.2 -1 validated p.K3312T 1.000 151 0% 224 31.7% 1 0% unknown(0) tolerated(0.1) - NULL C14orf79 122616 genome.wustl.edu 37 14 105453100 105453100 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174891.3 +1 validated p.R111I 0.000 40 0% 87 27.6% 8 75% probably_damaging(0.981) tolerated(0.26) neutral(0.460) NULL BRF1 2972 genome.wustl.edu 37 14 105718886 105718886 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001519.2 -1 reviewed p.L168I 1.000 57 0% 128 28.1% 34 29.4% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMSmart_SM00385,superfamily_Cyclin-like MTA1 9112 genome.wustl.edu 37 14 105929578 105929578 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004689.3 +1 reviewed p.D334N 1.000 24 0% 38 18.4% 124 44.3% possibly_damaging(0.929) tolerated(0.08) deleterious(0.676) superfamily_Homeodomain-like IGHG2 3501 genome.wustl.edu 37 14 106109615 106109615 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390545 -1 known p.F302L 0.001 204 0% 363 27.8% 4931 0% possibly_damaging(0.74) deleterious(0) deleterious(0.716) PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHD 3495 genome.wustl.edu 37 14 106306966 106306966 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390556 -1 known p.R288W 0.000 16 0% 28 39.3% 5 0% benign(0.374) tolerated(0.2) neutral(0.168) superfamily_Immunoglobulin IGHM 3507 genome.wustl.edu 37 14 106322204 106322204 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000496208 -1 known p.F39L 1.000 104 0% 186 43.5% 76 0% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin IGHV1-2 28474 genome.wustl.edu 37 14 106452853 106452853 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390594 -1 known p.R57* 0.931 163 0% 88 36.4% 29 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV@ 3509 genome.wustl.edu 37 14 106725414 106725414 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390609 -1 known p.F46 0.412 271 0% 157 16.6% 2032 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV@ 3509 genome.wustl.edu 37 14 106725627 106725627 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390609 -1 known p.L10I 0.337 287 0% 207 21.7% 2060 0% benign(0.388) tolerated(0.15) neutral(0.365) NULL IGHV3-53 28420 genome.wustl.edu 37 14 107048865 107048865 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390627 -1 known p.Y52C 0.000 225 0% 171 20.5% 80 0% benign(0.096) tolerated(0.14) neutral(0.257) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV1-58 28464 genome.wustl.edu 37 14 107078376 107078376 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390628 -1 known p.A116 0.787 131 0% 182 29.7% 0 - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV3-72 28410 genome.wustl.edu 37 14 107199010 107199010 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000433072 -1 known p.R93S 0.971 190 0% 222 33.8% 17 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 LOC729722 729722 genome.wustl.edu 37 15 20086530 20086530 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001716538.2 +1 model p.T207K 0.088 30 0% 20 40% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ENSG00000215407 0 genome.wustl.edu 37 15 20444697 20444697 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000400226 -1 known p.I483 0.381 151 0% 133 13.5% 0 - - - - HMMSmart_SM00228,superfamily_PDZ domain-like LOC727924 727924 genome.wustl.edu 37 15 22332448 22332448 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_015416.1 +1 predicted NULL 1.000 632 0% 314 10.2% 0 - - - - - OR4M2 390538 genome.wustl.edu 37 15 22368693 22368693 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004719.2 +1 validated p.P40S 0.217 739 0% 371 11.9% 0 - probably_damaging(0.974) tolerated(0.12) deleterious(0.676) superfamily_Family A G protein-coupled receptor-like OR4M2 390538 genome.wustl.edu 37 15 22368697 22368697 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004719.2 +1 validated p.G41V 0.385 734 0% 372 12.4% 0 - benign(0.03) deleterious(0.01) neutral(0.407) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4M2 390538 genome.wustl.edu 37 15 22369068 22369068 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004719.2 +1 validated p.R165* 0.005 727 0% 294 15.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4N4 283694 genome.wustl.edu 37 15 22383237 22383237 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005241.1 +1 provisional p.I255 0.241 290 0% 282 12.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 LOC642131 642131 genome.wustl.edu 37 15 22472986 22472986 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001716834.1 -1 model p.K102N 0.999 366 0% 474 18.1% 22 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin GOLGA6L1 283767 genome.wustl.edu 37 15 22742973 22742973 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001413.3 +1 provisional p.R453Q 0.006 676 0.1% 614 10.1% 0 - unknown(0) tolerated(0.42) - NULL TUBGCP5 114791 genome.wustl.edu 37 15 22836062 22836062 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102610.1 +1 validated e3-1 1.000 111 0% 155 23.9% 0 - - - - - TUBGCP5 114791 genome.wustl.edu 37 15 22836136 22836136 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102610.1 +1 validated p.L92I 1.000 100 0% 137 26.3% 8 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CYFIP1 23191 genome.wustl.edu 37 15 22997798 22997798 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014608.2 +1 validated p.S1015Y 1.000 146 0% 162 13% 190 12.6% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_FragX_IP NIPA2 81614 genome.wustl.edu 37 15 23014448 23014448 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008860.2 -1 reviewed p.V93M 1.000 71 0% 81 29.6% 46 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF803,superfamily_Multidrug resistance efflux transporter EmrE LOC283683 283683 genome.wustl.edu 37 15 23128244 23128244 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_015696.3 -1 model NULL 0.014 18 0.000 9 0.444 0 - - - - - LOC283685 283685 genome.wustl.edu 37 15 23685249 23685249 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343322.1 -1 model p.E643G 0.001 35 5.7% 53 20.8% 0 - - - - NULL LOC283685 283685 genome.wustl.edu 37 15 23685703 23685703 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343322.1 -1 model p.R570W 0.010 68 0% 102 18.6% 0 - - - - NULL LOC283685 283685 genome.wustl.edu 37 15 23685935 23685935 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343322.1 -1 model p.E492D 0.000 87 0% 104 22.1% 0 - - - - NULL MAGEL2 54551 genome.wustl.edu 37 15 23890347 23890347 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019066.4 -1 reviewed p.S245L 0.000 60 0% 82 29.3% 0 - benign(0.054) tolerated(0.31) neutral(0.030) NULL C15orf2 23742 genome.wustl.edu 37 15 24924154 24924154 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018958.2 +1 reviewed p.S1047N 0.003 81 0% 105 25.7% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL UBE3A 7337 genome.wustl.edu 37 15 25616214 25616214 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000462.2 -1 reviewed p.S372 0.748 86 0% 72 36.1% 21 28.5% - - - NULL ATP10A 57194 genome.wustl.edu 37 15 25962069 25962069 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024490.3 -1 reviewed p.E528D 1.000 51 0% 84 23.8% 3 33.3% possibly_damaging(0.838) tolerated(0.12) deleterious(0.581) superfamily_SSF56784 ATP10A 57194 genome.wustl.edu 37 15 25981250 25981250 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024490.3 -1 reviewed p.I231 0.960 98 0% 123 32.5% 3 33.3% - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81653 ATP10A 57194 genome.wustl.edu 37 15 26026297 26026297 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024490.3 -1 reviewed p.E175K 1.000 131 0% 221 29% 4 50% benign(0.356) deleterious(0) deleterious(0.557) HMMPfam_E1-E2_ATPase,superfamily_SSF81653 GABRA5 2558 genome.wustl.edu 37 15 27185074 27185074 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000810.3 +1 reviewed p.E243K 0.997 138 0% 162 25.9% 0 - benign(0.36) deleterious(0.04) neutral(0.463) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA5 2558 genome.wustl.edu 37 15 27188440 27188440 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000810.3 +1 reviewed p.A319V 1.000 29 0% 42 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA5 2558 genome.wustl.edu 37 15 27193356 27193356 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000810.3 +1 reviewed p.I455 0.832 17 0% 13 38.5% 0 - - - - superfamily_Neu_channel_TM HERC2 8924 genome.wustl.edu 37 15 28508147 28508147 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004667.4 -1 reviewed p.S680* 1.000 225 0.4% 251 34.3% 3 33.3% - - - HMMPfam_RCC1,HMMSmart_SM00706,superfamily_RCC1/BLIP-II LOC728310 728310 genome.wustl.edu 37 15 29087943 29087943 + RNA SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_078490.1 -1 model NULL 0.002 9 0.000 12 0.583 0 - - - - - NDNL2 56160 genome.wustl.edu 37 15 29561189 29561189 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138704.2 -1 reviewed p.T241A 0.994 87 0% 143 30.8% 64 42.1% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) HMMPfam_MAGE TJP1 7082 genome.wustl.edu 37 15 30034888 30034888 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003257.3 -1 validated p.V370F 0.981 276 0% 209 25.4% 18 27.7% benign(0.057) tolerated(0.2) neutral(0.053) NULL ENSG00000215315 0 genome.wustl.edu 37 15 30337159 30337159 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000400005 +1 known p.S111 1.000 81 0% 168 29.8% 3 0% - - - HMMPfam_MARVEL TRPM1 4308 genome.wustl.edu 37 15 31332467 31332467 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002420.4 -1 reviewed p.E702K 1.000 118 0% 117 31.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TRPM1 4308 genome.wustl.edu 37 15 31342667 31342667 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002420.4 -1 reviewed p.V439G 0.981 396 0% 473 29.6% 0 - benign(0) tolerated(0.08) neutral(0.300) NULL MIR211 406993 genome.wustl.edu 37 15 31357242 31357242 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384969 -1 known NULL 0.070 120 0% 87 34.5% 0 - - - - - FMN1 342184 genome.wustl.edu 37 15 33300232 33300232 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001103184.2 -1 validated p.E513* 1.000 307 0% 169 28.4% 1 0% - - - NULL FMN1 342184 genome.wustl.edu 37 15 33359245 33359245 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001103184.2 -1 validated p.R281C 1.000 63 0% 48 31.2% 0 - unknown(0) deleterious(0) - NULL RYR3 6263 genome.wustl.edu 37 15 33831613 33831613 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.R166* 0.996 116 0% 44 29.5% 0 - - - - HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 RYR3 6263 genome.wustl.edu 37 15 33835881 33835881 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.T235 0.887 160 0% 89 27% 0 - - - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 RYR3 6263 genome.wustl.edu 37 15 33922211 33922211 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.N917S 1.000 184 0% 97 35.1% 0 - probably_damaging(0.973) - - HMMPfam_RyR RYR3 6263 genome.wustl.edu 37 15 33955747 33955747 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.L1810F 1.000 70 0% 94 35.1% 0 - probably_damaging(1) - - NULL RYR3 6263 genome.wustl.edu 37 15 33990121 33990121 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.N2058S 1.000 143 0% 148 35.1% 0 - benign(0.002) - - HMMPfam_RYDR_ITPR RYR3 6263 genome.wustl.edu 37 15 34021182 34021182 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.E2386D 1.000 130 0% 86 33.7% 0 - probably_damaging(0.971) - - NULL RYR3 6263 genome.wustl.edu 37 15 34049784 34049784 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.E2898* 1.000 165 0% 94 25.5% 0 - - - - NULL RYR3 6263 genome.wustl.edu 37 15 34077972 34077972 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.E3126D 1.000 102 0% 49 36.7% 0 - benign(0.096) - - NULL RYR3 6263 genome.wustl.edu 37 15 34131007 34131007 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.D4276Y 0.994 59 0% 40 27.5% 1 100% probably_damaging(0.962) - - HMMPfam_RR_TM4-6 RYR3 6263 genome.wustl.edu 37 15 34131115 34131115 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.P4312A 0.467 51 0% 37 32.4% 0 - benign(0.002) - - HMMPfam_RR_TM4-6 RYR3 6263 genome.wustl.edu 37 15 34146642 34146642 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.T4618A 1.000 169 0% 211 31.3% 1 0% possibly_damaging(0.891) - - NULL RYR3 6263 genome.wustl.edu 37 15 34152815 34152815 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001036.3 +1 validated p.F4773 1.000 202 0% 359 30.9% 3 33.3% - - - NULL AVEN 57099 genome.wustl.edu 37 15 34158895 34158895 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020371.2 -1 validated p.N336K 0.000 469 0% 274 27.4% 23 39.1% benign(0.002) tolerated(0.14) neutral(0.249) NULL PGBD4 161779 genome.wustl.edu 37 15 34395899 34395899 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152595.4 +1 validated p.D389 0.967 68 0% 106 16% 0 - - - - NULL C15orf55 256646 genome.wustl.edu 37 15 34649252 34649252 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175741.1 +1 validated p.E987* 0.004 36 0% 49 42.9% 0 - - - - NULL GJD2 57369 genome.wustl.edu 37 15 35045374 35045374 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020660.1 -1 provisional p.L91I 1.000 55 0% 113 15% 0 - probably_damaging(0.981) tolerated(0.74) neutral(0.427) HMMPfam_Connexin GJD2 57369 genome.wustl.edu 37 15 35045563 35045563 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020660.1 -1 provisional p.T28A 1.000 53 0% 77 11.7% 0 - possibly_damaging(0.772) deleterious(0) deleterious(0.732) HMMPfam_Connexin AQR 9716 genome.wustl.edu 37 15 35178825 35178825 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014691.2 -1 validated p.E907* 1.000 176 0% 124 30.6% 6 0% - - - superfamily_SSF52540 AQR 9716 genome.wustl.edu 37 15 35252991 35252991 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014691.2 -1 validated p.E53* 1.000 155 0% 137 30.7% 0 - - - - NULL ZNF770 54989 genome.wustl.edu 37 15 35274161 35274161 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014106.2 -1 validated p.R492I 1.000 112 0% 121 26.4% 12 50% probably_damaging(0.972) deleterious(0.03) deleterious(0.778) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000248276 0 genome.wustl.edu 37 15 35377228 35377228 + RNA SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000514460 +1 known NULL 0.000 115 0% 215 17.2% 0 - - - - - C15orf41 84529 genome.wustl.edu 37 15 36872139 36872139 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130010.1 +1 validated p.R26 1.000 65 0% 71 36.6% 4 50% - - - NULL FAM98B 283742 genome.wustl.edu 37 15 38766390 38766390 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173611.2 +1 validated p.L207P 0.416 134 0% 82 23.2% 41 36.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2465 THBS1 7057 genome.wustl.edu 37 15 39879645 39879645 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003246.2 +1 reviewed p.C406 0.893 21 0% 38 23.7% 34 2.9% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat EIF2AK4 440275 genome.wustl.edu 37 15 40309413 40309413 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013703.2 +1 validated p.I1345 1.000 171 0% 78 34.6% 58 31% - - - superfamily_Class II aaRS and biotin synthetases EIF2AK4 440275 genome.wustl.edu 37 15 40326622 40326622 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013703.2 +1 validated p.I1623M 0.992 113 0% 131 35.1% 28 39.2% possibly_damaging(0.719) tolerated(0.12) deleterious(0.521) NULL BUB1B 701 genome.wustl.edu 37 15 40500943 40500943 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001211.5 +1 reviewed p.E705D 1.000 84 0% 60 26.7% 27 40.7% possibly_damaging(0.94) deleterious(0) deleterious(0.830) NULL C15orf52 388115 genome.wustl.edu 37 15 40630090 40630090 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207380.2 -1 validated p.S217Y 0.016 42 2.4% 57 29.8% 0 - benign(0.345) deleterious(0.02) deleterious(0.492) NULL DISP2 85455 genome.wustl.edu 37 15 40657830 40657830 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033510.1 +1 reviewed p.E283D 0.998 85 0% 161 31.1% 0 - possibly_damaging(0.906) tolerated(0.58) neutral(0.364) NULL C15orf23 90417 genome.wustl.edu 37 15 40675207 40675207 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033286.3 +1 validated p.E57D 0.012 34 0% 60 28.3% 6 16.6% benign(0.011) tolerated(0.54) neutral(0.008) NULL CASC5 57082 genome.wustl.edu 37 15 40913035 40913035 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170589.3 +1 validated p.E217D 0.005 89 0% 50 26% 0 - benign(0.252) tolerated(0.51) neutral(0.035) NULL CASC5 57082 genome.wustl.edu 37 15 40914902 40914902 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170589.3 +1 validated p.E840* 0.005 63 0% 67 44.8% 0 - - - - NULL LOC100288995 100288995 genome.wustl.edu 37 15 41222933 41222933 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343338.1 -1 model p.L441I 1.000 46 0% 59 32.2% 0 - - - - NULL DLL4 54567 genome.wustl.edu 37 15 41224381 41224381 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019074.2 +1 reviewed p.S224L 1.000 129 0% 238 33.6% 5 0% benign(0.055) deleterious(0.01) neutral(0.409) HMMSmart_EGF,HMMPfam_EGF_2 INO80 54617 genome.wustl.edu 37 15 41364112 41364112 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017553.1 -1 reviewed p.F514V 1.000 94 0% 60 43.3% 5 60% benign(0.085) deleterious(0.02) neutral(0.389) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases EXD1 161829 genome.wustl.edu 37 15 41482317 41482317 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152596.2 -1 provisional p.E234* 0.993 104 0% 106 46.2% 0 - - - - HMMSmart_SM00474,superfamily_Ribonuclease H-like NUSAP1 51203 genome.wustl.edu 37 15 41657625 41657625 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016359.3 +1 validated p.V229A 0.000 60 0% 50 14% 79 54.4% benign(0.002) tolerated(0.44) neutral(0.013) NULL RTF1 23168 genome.wustl.edu 37 15 41763431 41763431 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015138.4 +1 validated p.R363* 1.000 137 0% 116 24.1% 39 7.6% - - - HMMPfam_Plus-3,HMMSmart_SM00719 LTK 4058 genome.wustl.edu 37 15 41796357 41796357 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002344.5 -1 reviewed p.S811Y 0.010 47 0% 89 34.8% 0 - possibly_damaging(0.502) deleterious(0.02) deleterious(0.550) NULL MGA 23269 genome.wustl.edu 37 15 42028472 42028472 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080541.2 +1 validated p.E1337G 1.000 85 0% 57 24.6% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MGA 23269 genome.wustl.edu 37 15 42040997 42040997 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080541.2 +1 validated p.V1841A 0.999 180 0% 81 38.3% 5 20% benign(0.425) deleterious(0) deleterious(0.583) NULL MAPKBP1 23005 genome.wustl.edu 37 15 42105267 42105267 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128608.1 +1 validated p.R263* 0.127 192 0% 218 31.7% 8 25% - - - superfamily_WD40 repeat-like MAPKBP1 23005 genome.wustl.edu 37 15 42107836 42107836 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128608.1 +1 validated p.I450 0.780 58 0% 64 31.2% 3 0% - - - superfamily_WD40 repeat-like MAPKBP1 23005 genome.wustl.edu 37 15 42109932 42109932 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128608.1 +1 validated p.R641W 1.000 39 0% 50 26% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like MAPKBP1 23005 genome.wustl.edu 37 15 42110463 42110463 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128608.1 +1 validated p.F690L 1.000 120 0% 158 33.5% 3 33.3% benign(0.307) deleterious(0.01) deleterious(0.501) superfamily_WD40 repeat-like JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42135889 42135889 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005090.3 +1 validated p.A484 0.007 35 0% 44 36.4% 18 38.8% - - - HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like SPTBN5 51332 genome.wustl.edu 37 15 42147781 42147781 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016642.2 -1 validated p.A3027S 0.506 24 0% 68 36.8% 4 25% possibly_damaging(0.731) tolerated(0.24) neutral(0.304) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN5 51332 genome.wustl.edu 37 15 42179569 42179569 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016642.2 -1 validated p.V209L 0.272 44 0% 62 35.5% 1 0% possibly_damaging(0.675) deleterious(0.05) deleterious(0.585) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain EHD4 30844 genome.wustl.edu 37 15 42211723 42211723 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139265.3 -1 validated p.F203L 1.000 77 0% 40 27.5% 60 36.6% possibly_damaging(0.94) tolerated(0.08) deleterious(0.685) HMMPfam_Dynamin_N,superfamily_SSF52540 PLA2G4E 123745 genome.wustl.edu 37 15 42276652 42276652 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080490.1 -1 provisional p.R761* 0.994 102 0% 129 11.6% 0 - - - - HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like GANC 2595 genome.wustl.edu 37 15 42618562 42618562 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198141.2 +1 reviewed p.D454Y 0.997 207 0% 104 35.6% 3 33.3% benign(0.296) deleterious(0.02) deleterious(0.475) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases GANC 2595 genome.wustl.edu 37 15 42622841 42622841 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198141.2 +1 reviewed p.R571H 1.000 185 0% 111 29.7% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases LRRC57 255252 genome.wustl.edu 37 15 42839556 42839556 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153260.2 -1 validated p.H132R 1.000 62 0% 116 24.1% 13 46.1% possibly_damaging(0.44) tolerated(0.16) neutral(0.203) HMMPfam_LRR_1,superfamily_SSF52058 HAUS2 55142 genome.wustl.edu 37 15 42858946 42858946 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018097.2 +1 validated p.H214Y 0.047 121 0% 86 26.7% 8 12.5% possibly_damaging(0.736) tolerated(0.09) deleterious(0.566) NULL STARD9 57519 genome.wustl.edu 37 15 42978841 42978841 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001129482.3 +1 model p.D1603N 0.000 56 0% 31 35.5% 2 0% benign(0) - - NULL STARD9 57519 genome.wustl.edu 37 15 42985120 42985120 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001129482.3 +1 model p.P3696T 0.000 74 0% 49 34.7% 0 - benign(0.002) - - NULL CDAN1 146059 genome.wustl.edu 37 15 43016798 43016798 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138477.2 -1 reviewed p.L1192* 1.000 120 0% 110 29.1% 18 44.4% - - - NULL TTBK2 146057 genome.wustl.edu 37 15 43044593 43044593 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173500.3 -1 reviewed p.E951* 1.000 131 0% 102 34.3% 0 - - - - NULL TTBK2 146057 genome.wustl.edu 37 15 43044748 43044748 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173500.3 -1 reviewed p.F899C 1.000 81 0% 44 27.3% 3 33.3% possibly_damaging(0.513) deleterious(0) deleterious(0.617) NULL UBR1 197131 genome.wustl.edu 37 15 43339390 43339390 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174916.2 -1 reviewed p.L546* 1.000 129 0% 88 47.7% 1 0% - - - NULL UBR1 197131 genome.wustl.edu 37 15 43347065 43347065 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174916.2 -1 reviewed p.I438 1.000 164 0% 94 29.8% 4 75% - - - NULL MAP1A 4130 genome.wustl.edu 37 15 43814086 43814086 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002373.5 +1 reviewed p.V139M 1.000 162 0% 169 23.7% 1 0% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL MAP1A 4130 genome.wustl.edu 37 15 43814496 43814496 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002373.5 +1 reviewed p.K275N 1.000 64 0% 76 39.5% 0 - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) NULL MAP1A 4130 genome.wustl.edu 37 15 43816513 43816513 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002373.5 +1 reviewed p.V948I 0.001 101 0% 106 35.8% 1 0% benign(0.213) tolerated(0.14) neutral(0.271) NULL MAP1A 4130 genome.wustl.edu 37 15 43818802 43818802 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002373.5 +1 reviewed p.E1711K 0.940 49 0% 68 39.7% 2 0% possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL MAP1A 4130 genome.wustl.edu 37 15 43819697 43819697 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002373.5 +1 reviewed p.R2009Q 0.030 27 0% 32 34.4% 2 0% possibly_damaging(0.935) tolerated(0.1) deleterious(0.667) NULL MAP1A 4130 genome.wustl.edu 37 15 43820474 43820474 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002373.5 +1 reviewed p.I2268T 0.371 42 0% 66 36.4% 0 - benign(0.079) deleterious(0) neutral(0.450) NULL STRC 161497 genome.wustl.edu 37 15 43893654 43893654 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153700.2 -1 reviewed p.I1547 0.012 99 0% 102 32.4% 1 0% - - - NULL STRC 161497 genome.wustl.edu 37 15 43902548 43902548 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153700.2 -1 reviewed p.R1154* 0.994 386 0% 287 15.7% 0 - - - - NULL CATSPER2 117155 genome.wustl.edu 37 15 43939282 43939282 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172095.1 -1 reviewed p.V118 1.000 188 0% 316 29.1% 0 - - - - superfamily_Voltage-gated potassium channels CKMT1A 548596 genome.wustl.edu 37 15 43988294 43988294 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001015001.1 +1 reviewed p.R242* 1.000 399 0% 523 15.9% 3 0% - - - HMMPfam_ATP-gua_Ptrans,superfamily_SSF55931 ELL3 80237 genome.wustl.edu 37 15 44067560 44067560 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025165.2 -1 validated p.N197D 0.997 79 0% 159 32.7% 1 0% benign(0.139) deleterious(0.03) neutral(0.377) HMMPfam_ELL FRMD5 84978 genome.wustl.edu 37 15 44175962 44175962 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032892.3 -1 validated p.G358 1.000 96 0% 57 29.8% 1 0% - - - NULL FRMD5 84978 genome.wustl.edu 37 15 44184255 44184255 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032892.3 -1 validated p.N218H 1.000 118 0% 83 9.6% 3 33.3% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) HMMPfam_FERM_C,superfamily_PH domain-like CASC4 113201 genome.wustl.edu 37 15 44695092 44695092 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138423.2 +1 reviewed p.F360L 1.000 129 0% 118 30.5% 20 30% probably_damaging(0.987) tolerated(0.3) neutral(0.465) NULL EIF3J 8669 genome.wustl.edu 37 15 44849770 44849770 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003758.2 +1 validated p.D165Y 1.000 120 0% 91 36.3% 18 38.8% possibly_damaging(0.453) deleterious(0.02) deleterious(0.531) HMMPfam_eIF3_subunit SPG11 80208 genome.wustl.edu 37 15 44920905 44920905 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025137.3 -1 reviewed p.V677L 0.838 299 0% 195 26.2% 8 25% benign(0.146) tolerated(0.55) neutral(0.019) NULL SORD 6652 genome.wustl.edu 37 15 45353314 45353314 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003104.4 +1 validated p.F105 0.998 161 0% 93 37.6% 91 38.4% - - - superfamily_GroES-like,HMMPfam_ADH_N DUOX2 50506 genome.wustl.edu 37 15 45389449 45389449 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014080.4 -1 reviewed p.E1278 1.000 94 0% 85 31.8% 0 - - - - HMMPfam_FAD_binding_8,superfamily_Riboflavin synthase domain-like DUOXA2 405753 genome.wustl.edu 37 15 45408792 45408792 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207581.3 +1 reviewed p.A140V 0.000 38 0% 48 33.3% 0 - benign(0.018) tolerated(0.24) neutral(0.038) HMMPfam_DuoxA GATM 2628 genome.wustl.edu 37 15 45661653 45661653 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001482.2 -1 reviewed p.H119N 1.000 248 0% 224 27.2% 6 33.3% probably_damaging(0.997) tolerated(0.17) deleterious(0.525) HMMPfam_Amidinotransf,superfamily_Pentein HMGN2P46 283651 genome.wustl.edu 37 15 45847750 45847750 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000313559 +1 known p.E34* 0.000 50 0% 40 25% 0 - - - - NULL SQRDL 58472 genome.wustl.edu 37 15 45965990 45965990 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021199.2 +1 provisional p.Y215* 0.998 90 0% 58 36.2% 26 0% - - - HMMPfam_Pyr_redox_2,superfamily_SSF51905 SEMA6D 80031 genome.wustl.edu 37 15 48053203 48053203 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153618.1 +1 reviewed p.E84* 1.000 134 0% 52 28.8% 1 0% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6D 80031 genome.wustl.edu 37 15 48056195 48056195 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153618.1 +1 reviewed p.S299F 1.000 194 0% 81 25.9% 2 100% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6D 80031 genome.wustl.edu 37 15 48063853 48063853 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153618.1 +1 reviewed p.Y1031 0.991 45 0% 25 24% 2 0% - - - NULL CTXN2 399697 genome.wustl.edu 37 15 48493701 48493701 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145668.1 +1 validated p.V68 0.790 250 0% 167 15% 1 0% - - - NULL SLC12A1 6557 genome.wustl.edu 37 15 48518684 48518684 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000338.2 +1 reviewed p.L214F 1.000 163 0% 108 13% 4 25% benign(0.157) deleterious(0.01) neutral(0.420) HMMPfam_AA_permease SLC12A1 6557 genome.wustl.edu 37 15 48580308 48580308 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000338.2 +1 reviewed p.T900P 0.003 141 0% 74 32.4% 5 20% benign(0) deleterious(0.01) neutral(0.406) NULL SLC12A1 6557 genome.wustl.edu 37 15 48593571 48593571 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000338.2 +1 reviewed p.L1052 1.000 112 0% 128 28.1% 11 63.6% - - - NULL SLC12A1 6557 genome.wustl.edu 37 15 48595010 48595010 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000338.2 +1 reviewed p.I1076 0.997 188 0% 317 31.2% 5 60% - - - NULL FBN1 2200 genome.wustl.edu 37 15 48726861 48726861 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000138.4 -1 reviewed p.K2182N 1.000 118 0% 49 34.7% 6 33.3% benign(0.174) tolerated(0.19) neutral(0.066) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48779290 48779290 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000138.4 -1 reviewed p.D1191N 0.992 34 2.9% 37 24.3% 12 33.3% possibly_damaging(0.825) tolerated(0.54) neutral(0.320) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48780424 48780424 + Missense_Mutation SNP G G A rs186805359 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000138.4 -1 reviewed p.R1075C 1.000 83 0% 64 20.3% 8 12.5% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin CEP152 22995 genome.wustl.edu 37 15 49031003 49031003 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014985.2 -1 provisional p.D1470N 0.000 85 0% 43 25.6% 3 33.3% benign(0.026) tolerated(0.65) neutral(0.004) NULL CEP152 22995 genome.wustl.edu 37 15 49036533 49036533 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014985.2 -1 provisional p.S1191P 0.998 91 0% 82 22% 5 20% probably_damaging(0.989) tolerated(0.22) deleterious(0.481) NULL CEP152 22995 genome.wustl.edu 37 15 49048288 49048288 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014985.2 -1 provisional p.L1053I 0.165 179 0% 90 32.2% 3 33.3% probably_damaging(0.971) tolerated(0.4) neutral(0.429) NULL SECISBP2L 9728 genome.wustl.edu 37 15 49309757 49309757 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014701.2 -1 provisional p.L368 1.000 205 0% 76 42.1% 1 0% - - - NULL C15orf33 196951 genome.wustl.edu 37 15 49867222 49867222 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152647.2 -1 validated p.L211I 1.000 84 0% 61 34.4% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ATP8B4 79895 genome.wustl.edu 37 15 50303067 50303067 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024837.2 -1 validated p.K137T 1.000 332 0% 79 26.6% 0 - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 HDC 3067 genome.wustl.edu 37 15 50544635 50544635 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002112.2 -1 validated p.D345N 1.000 74 0% 47 38.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pyridoxal_deC,superfamily_PyrdxlP-dep_Trfase_major USP8 9101 genome.wustl.edu 37 15 50773789 50773789 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128610.1 +1 validated p.R444C 1.000 155 0% 93 29% 12 41.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TRPM7 54822 genome.wustl.edu 37 15 50867185 50867185 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017672.4 -1 reviewed p.K1628T 1.000 203 0% 154 31.2% 20 25% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Alpha_kinase,HMMSmart_Alpha_kinase,superfamily_Kinase_like TRPM7 54822 genome.wustl.edu 37 15 50886632 50886632 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017672.4 -1 reviewed p.G1157* 1.000 141 0% 91 30.8% 7 28.5% - - - NULL TRPM7 54822 genome.wustl.edu 37 15 50916403 50916403 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017672.4 -1 reviewed p.K467T 1.000 158 0% 143 26.6% 6 83.3% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL AP4E1 23431 genome.wustl.edu 37 15 51223083 51223083 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007347.3 +1 validated p.E262* 1.000 123 0% 58 34.5% 1 0% - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold AP4E1 23431 genome.wustl.edu 37 15 51250835 51250835 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007347.3 +1 validated p.A565 0.975 118 0% 54 38.9% 2 0% - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold CYP19A1 1588 genome.wustl.edu 37 15 51510773 51510773 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000103.3 -1 reviewed p.K236N 1.000 164 0% 94 13.8% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_p450,superfamily_Cytochrome_P450 CYP19A1 1588 genome.wustl.edu 37 15 51510842 51510842 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000103.3 -1 reviewed p.I213 0.177 104 0% 59 44.1% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 DMXL2 23312 genome.wustl.edu 37 15 51742382 51742382 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015263.3 -1 validated p.A2949T 1.000 158 0% 94 22.3% 31 41.9% benign(0.017) tolerated(0.09) neutral(0.297) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DMXL2 23312 genome.wustl.edu 37 15 51772896 51772896 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015263.3 -1 validated p.A2136V 1.000 136 0% 142 9.9% 6 16.6% unknown(0) deleterious(0.01) - superfamily_WD40 repeat-like SCG3 29106 genome.wustl.edu 37 15 51975299 51975299 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013243.3 +1 reviewed p.K53N 1.000 115 0% 125 12.8% 0 - benign(0.053) tolerated(0.1) neutral(0.290) NULL SCG3 29106 genome.wustl.edu 37 15 51980463 51980463 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013243.3 +1 reviewed p.P135L 1.000 120 0% 59 23.7% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SCG3 29106 genome.wustl.edu 37 15 51980575 51980575 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013243.3 +1 reviewed p.V172 1.000 123 0% 56 28.6% 0 - - - - NULL MYO5A 4644 genome.wustl.edu 37 15 52643532 52643532 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000259.3 -1 reviewed p.S1256 0.844 113 0% 82 26.8% 5 40% - - - NULL WDR72 256764 genome.wustl.edu 37 15 53889440 53889440 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182758.2 -1 validated p.A995V 0.974 178 0% 77 24.7% 77 42.8% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL UNC13C 440279 genome.wustl.edu 37 15 54305295 54305295 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080534.1 +1 provisional p.K65N 0.998 122 0% 74 18.9% 0 - benign(0.052) deleterious(0) neutral(0.448) NULL UNC13C 440279 genome.wustl.edu 37 15 54308000 54308000 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080534.1 +1 provisional p.R967I 0.998 117 0% 62 25.8% 0 - possibly_damaging(0.856) deleterious(0) deleterious(0.775) NULL UNC13C 440279 genome.wustl.edu 37 15 54586116 54586116 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080534.1 +1 provisional p.R1281Q 1.000 187 0% 152 33.6% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB UNC13C 440279 genome.wustl.edu 37 15 54916148 54916148 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080534.1 +1 provisional p.Q2119K 1.000 113 0.9% 54 25.9% 1 100% benign(0.238) deleterious(0.04) neutral(0.373) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB RSL24D1 51187 genome.wustl.edu 37 15 55477572 55477572 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016304.2 -1 reviewed p.F107C 1.000 212 0% 97 40.2% 69 55% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL PIGB 9488 genome.wustl.edu 37 15 55612484 55612484 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004855.4 +1 reviewed p.E59* 0.999 394 0% 339 11.2% 3 0% - - - NULL CCPG1 9236 genome.wustl.edu 37 15 55652505 55652505 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004748.3 -1 validated p.V489A 1.000 242 0% 217 30.4% 8 12.5% probably_damaging(0.999) tolerated(0.51) deleterious(0.499) NULL CCPG1 9236 genome.wustl.edu 37 15 55652868 55652868 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004748.3 -1 validated p.F368S 1.000 290 0% 228 37.7% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCPG1 9236 genome.wustl.edu 37 15 55657460 55657460 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004748.3 -1 validated p.E252* 1.000 96 0% 44 29.5% 14 7.1% - - - NULL PYGO1 26108 genome.wustl.edu 37 15 55838259 55838259 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015617.1 -1 provisional p.E408* 1.000 73 0% 58 31% 9 55.5% - - - NULL PYGO1 26108 genome.wustl.edu 37 15 55838828 55838828 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015617.1 -1 provisional p.S218Y 0.961 123 0% 68 26.5% 0 - benign(0.174) tolerated(0.07) neutral(0.335) NULL PRTG 283659 genome.wustl.edu 37 15 55916659 55916659 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173814.4 -1 validated p.P992T 0.002 137 0% 105 39% 0 - benign(0.036) tolerated(0.25) neutral(0.039) NULL PRTG 283659 genome.wustl.edu 37 15 55964707 55964707 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173814.4 -1 validated p.G659 0.999 93 0% 99 38.4% 1 100% - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NEDD4 4734 genome.wustl.edu 37 15 56122766 56122766 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198400.2 -1 validated p.S1196* 0.995 121 0% 83 37.3% 0 - - - - HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT NEDD4 4734 genome.wustl.edu 37 15 56130769 56130769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198400.2 -1 validated p.L1036I 1.000 166 0% 97 26.8% 1 0% benign(0.002) deleterious(0.05) neutral(0.345) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT NEDD4 4734 genome.wustl.edu 37 15 56207807 56207807 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198400.2 -1 validated p.S408Y 0.342 76 0% 46 30.4% 0 - possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL RFX7 64864 genome.wustl.edu 37 15 56387470 56387470 + Missense_Mutation SNP G G T rs190494413 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022841.5 -1 validated p.S819Y 0.071 126 0% 84 26.2% 4 25% possibly_damaging(0.716) deleterious(0.02) deleterious(0.642) NULL RFX7 64864 genome.wustl.edu 37 15 56394390 56394390 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022841.5 -1 validated p.D194Y 1.000 208 0% 212 28.8% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MNS1 55329 genome.wustl.edu 37 15 56739142 56739142 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018365.2 -1 reviewed e4-1 1.000 136 0% 64 15.6% 0 - - - - - ZNF280D 54816 genome.wustl.edu 37 15 56961093 56961093 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017661.2 -1 validated p.M491I 1.000 336 0% 74 27% 8 37.5% benign(0.001) tolerated(0.94) - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF280D 54816 genome.wustl.edu 37 15 56996375 56996375 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017661.2 -1 validated p.D40G 1.000 342 0% 216 27.8% 32 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TCF12 6938 genome.wustl.edu 37 15 57511760 57511760 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207040.1 +1 reviewed p.S14Y 1.000 213 0% 127 31.5% 14 64.2% probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL GCOM1 145781 genome.wustl.edu 37 15 57896543 57896543 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001018090.1 +1 reviewed p.R51I 0.999 69 0% 64 29.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GCOM1 145781 genome.wustl.edu 37 15 57925929 57925929 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001018090.1 +1 reviewed p.R308H 1.000 84 0% 77 33.8% 0 - probably_damaging(1) tolerated(0.53) deleterious(0.507) NULL LIPC 3990 genome.wustl.edu 37 15 58855768 58855768 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000236.2 +1 reviewed p.E412K 1.000 76 0% 52 25% 1 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) HSP90AB4P 664618 genome.wustl.edu 37 15 58984608 58984608 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000380522 -1 known p.K239N 1.000 28 0% 41 29.3% 0 - - - - HMMPfam_HSP90 SLTM 79811 genome.wustl.edu 37 15 59185179 59185179 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024755.2 -1 validated p.L605 1.000 305 0.3% 171 31.6% 35 34.2% - - - NULL RNF111 54778 genome.wustl.edu 37 15 59323676 59323676 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017610.6 +1 reviewed p.N219H 0.760 87 0% 56 35.7% 3 100% benign(0.066) deleterious(0) neutral(0.449) NULL RNF111 54778 genome.wustl.edu 37 15 59377946 59377946 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017610.6 +1 reviewed p.R838* 1.000 182 0% 79 38% 18 11.1% - - - NULL MYO1E 4643 genome.wustl.edu 37 15 59466008 59466008 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004998.2 -1 validated p.F757 0.981 178 0% 145 32.4% 27 48.1% - - - HMMPfam_Myosin_TH1 MYO1E 4643 genome.wustl.edu 37 15 59501033 59501033 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004998.2 -1 validated p.I459 1.000 91 0% 110 33.6% 17 35.2% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases NARG2 79664 genome.wustl.edu 37 15 60741792 60741792 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024611.4 -1 validated p.Q458H 1.000 139 0% 106 28.3% 9 66.6% possibly_damaging(0.685) deleterious(0) deleterious(0.689) NULL RORA 6095 genome.wustl.edu 37 15 60907193 60907193 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002943.3 -1 reviewed p.F57L 0.001 48 0% 19 42.1% 0 - benign(0) tolerated(1) - NULL VPS13C 54832 genome.wustl.edu 37 15 62204064 62204064 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020821.1 -1 validated p.K2897T 1.000 120 0% 59 33.9% 9 66.6% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_DUF1162 VPS13C 54832 genome.wustl.edu 37 15 62209737 62209737 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020821.1 -1 validated p.E2620K 0.998 82 0% 87 24.1% 6 50% probably_damaging(0.991) tolerated(0.16) deleterious(0.504) NULL VPS13C 54832 genome.wustl.edu 37 15 62242598 62242598 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020821.1 -1 validated p.E1519* 1.000 138 0% 74 27% 3 0% - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62274682 62274682 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020821.1 -1 validated p.E669* 1.000 386 0% 248 31.5% 1 0% - - - NULL LOC100289289 100289289 genome.wustl.edu 37 15 62542644 62542644 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343368.1 -1 model p.P871H 0.006 14 0.000 9 0.556 0 - - - - NULL TLN2 83660 genome.wustl.edu 37 15 63045974 63045974 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015059.2 +1 reviewed p.A1445 0.995 87 0% 65 16.9% 14 64.2% - - - NULL TLN2 83660 genome.wustl.edu 37 15 63084959 63084959 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015059.2 +1 reviewed p.I1952 0.940 21 0% 28 32.1% 30 46.6% - - - HMMPfam_VBS TLN2 83660 genome.wustl.edu 37 15 63089455 63089455 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015059.2 +1 reviewed p.D2030Y 1.000 29 0% 40 27.5% 33 48.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VBS ENSG00000247530 0 genome.wustl.edu 37 15 63880812 63880812 + RNA SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000499437 -1 known NULL 0.001 68 0% 37 29.7% 1 0% - - - - HERC1 8925 genome.wustl.edu 37 15 64019920 64019920 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003922.3 -1 reviewed p.P1091H 1.000 65 0% 32 46.9% 2 100% benign(0.195) - - NULL HERC1 8925 genome.wustl.edu 37 15 64021813 64021813 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003922.3 -1 reviewed p.D968 1.000 104 0% 63 38.1% 2 50% - - - NULL HERC1 8925 genome.wustl.edu 37 15 64056375 64056375 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003922.3 -1 reviewed p.R316W 1.000 58 0% 39 38.5% 1 100% probably_damaging(0.999) - - NULL DAPK2 23604 genome.wustl.edu 37 15 64218250 64218250 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014326.3 -1 reviewed p.E234 0.967 104 0% 88 36.4% 5 20% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PPIB 5479 genome.wustl.edu 37 15 64448304 64448304 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000942.4 -1 reviewed p.R190Q 1.000 97 0% 173 30.6% 2687 37% probably_damaging(0.994) tolerated(0.35) deleterious(0.473) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase KIAA0101 9768 genome.wustl.edu 37 15 64668945 64668945 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014736.4 -1 validated p.R96I 1.000 90 0% 102 10.8% 40 30% possibly_damaging(0.856) deleterious(0) deleterious(0.775) NULL TRIP4 9325 genome.wustl.edu 37 15 64686159 64686159 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016213.3 +1 validated p.I39T 1.000 120 0% 145 37.2% 22 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OAZ2 4947 genome.wustl.edu 37 15 64982680 64982680 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002537.2 -1 reviewed p.Q82 1.000 138 0% 155 32.3% 179 49.7% - - - HMMPfam_ODC_AZ CILP 8483 genome.wustl.edu 37 15 65490276 65490276 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003613.3 -1 reviewed p.R783I 0.221 70 0% 68 26.5% 0 - benign(0.055) tolerated(0.16) neutral(0.063) NULL PARP16 54956 genome.wustl.edu 37 15 65551875 65551875 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017851.4 -1 provisional p.S281L 0.992 67 0% 58 34.5% 21 52.3% possibly_damaging(0.701) deleterious(0.05) deleterious(0.597) NULL IGDCC4 57722 genome.wustl.edu 37 15 65684251 65684251 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020962.1 -1 provisional p.W731R 1.000 96 0% 159 35.8% 1 0% benign(0.156) tolerated(0.62) neutral(0.018) superfamily_Fibronectin type III DPP8 54878 genome.wustl.edu 37 15 65780127 65780127 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_197960.2 -1 reviewed p.L302I 0.955 100 0% 69 33.3% 4 50% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain C15orf44 81556 genome.wustl.edu 37 15 65891230 65891230 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030800.1 -1 predicted p.K195N 1.000 82 0% 77 27.3% 34 52.9% possibly_damaging(0.935) tolerated(0.2) neutral(0.429) superfamily_vWA-like DENND4A 10260 genome.wustl.edu 37 15 65988761 65988761 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144823.1 -1 validated p.V1008I 1.000 192 0% 104 35.6% 7 28.5% possibly_damaging(0.889) deleterious(0.04) deleterious(0.698) NULL DENND4A 10260 genome.wustl.edu 37 15 66007871 66007871 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144823.1 -1 validated p.S633Y 1.000 152 0% 77 39% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DIS3L 115752 genome.wustl.edu 37 15 66587470 66587470 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133375.3 +1 validated p.R12K 0.980 148 0% 306 25.5% 13 30.7% benign(0.001) tolerated(1) - NULL DIS3L 115752 genome.wustl.edu 37 15 66618457 66618457 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133375.3 +1 validated p.E569D 0.877 67 0% 48 43.8% 59 38.9% benign(0.248) tolerated(0.48) neutral(0.036) HMMPfam_RNB TIPIN 54962 genome.wustl.edu 37 15 66633536 66633536 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017858.2 -1 validated p.E212K 1.000 136 0% 104 37.5% 10 60% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) NULL SNAPC5 10302 genome.wustl.edu 37 15 66787731 66787731 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006049.2 -1 validated p.M39I 1.000 141 0% 205 11.2% 33 6% benign(0.015) deleterious(0) neutral(0.445) NULL ZWILCH 55055 genome.wustl.edu 37 15 66812982 66812982 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017975.3 +1 validated p.R192I 1.000 122 0% 69 20.3% 17 58.8% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_DUF2352 IQCH 64799 genome.wustl.edu 37 15 67553639 67553639 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031715.2 +1 validated p.E27D 0.411 107 0% 154 28.6% 1 100% possibly_damaging(0.942) tolerated(0.09) deleterious(0.683) NULL SKOR1 390598 genome.wustl.edu 37 15 68118703 68118703 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031807.1 +1 provisional p.F170 1.000 56 0% 75 34.7% 5 40% - - - superfamily_SAND_like PIAS1 8554 genome.wustl.edu 37 15 68466220 68466220 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016166.1 +1 reviewed p.I387V 1.000 188 0% 79 27.8% 11 27.2% benign(0.001) tolerated(0.49) neutral(0.011) superfamily_RING/U-box SPESP1 246777 genome.wustl.edu 37 15 69238761 69238761 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145658.3 +1 reviewed p.I296 0.000 40 0% 27 37% 1 100% - - - NULL GLCE 26035 genome.wustl.edu 37 15 69548483 69548483 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015554.1 +1 validated p.D113A 1.000 229 0% 132 32.6% 4 75% benign(0.117) tolerated(0.14) neutral(0.259) NULL UACA 55075 genome.wustl.edu 37 15 70976690 70976690 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018003.2 -1 validated p.G233D 1.000 141 0% 35 40% 11 36.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_ANK THSD4 79875 genome.wustl.edu 37 15 71433881 71433881 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024817.2 +1 provisional p.F5L 0.002 98 0% 44 38.6% 0 - benign(0.043) - - NULL MYO9A 4649 genome.wustl.edu 37 15 72192168 72192168 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006901.2 -1 validated p.D1110E 0.000 94 0% 41 36.6% 1 100% benign(0) tolerated(0.52) neutral(0.009) superfamily_P-loop containing nucleoside triphosphate hydrolases MYO9A 4649 genome.wustl.edu 37 15 72338405 72338405 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006901.2 -1 validated p.R167Q 1.000 97 0% 65 35.4% 1 0% probably_damaging(0.985) tolerated(0.33) neutral(0.456) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO9A 4649 genome.wustl.edu 37 15 72338902 72338902 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006901.2 -1 validated p.M1I 1.000 119 0% 102 26.5% 3 33.3% possibly_damaging(0.866) deleterious(0) deleterious(0.780) NULL GRAMD2 196996 genome.wustl.edu 37 15 72455726 72455726 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012642.2 -1 validated p.P279 0.000 122 0% 73 31.5% 0 - - - - NULL TMEM202 338949 genome.wustl.edu 37 15 72691082 72691082 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080462.1 +1 provisional p.R57Q 0.930 66 0% 124 69.4% 0 - probably_damaging(0.958) tolerated(0.21) neutral(0.446) NULL ARIH1 25820 genome.wustl.edu 37 15 72847676 72847676 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005744.3 +1 validated p.T218I 1.000 277 0% 154 31.8% 18 66.6% benign(0.37) tolerated(0.16) neutral(0.177) HMMSmart_SM00184,superfamily_RING/U-box ARIH1 25820 genome.wustl.edu 37 15 72864486 72864486 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005744.3 +1 validated p.A399S 1.000 107 0% 145 26.9% 62 43.5% benign(0.009) tolerated(0.57) neutral(0.007) NULL NEO1 4756 genome.wustl.edu 37 15 73562744 73562744 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002499.3 +1 validated p.R936* 1.000 126 0% 85 40% 36 8.3% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NEO1 4756 genome.wustl.edu 37 15 73590734 73590734 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002499.3 +1 validated p.S1316L 1.000 116 0% 82 35.4% 66 84.8% benign(0.291) tolerated(0.22) neutral(0.132) HMMPfam_Neogenin_C HCN4 10021 genome.wustl.edu 37 15 73615823 73615823 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005477.2 -1 reviewed p.L871 0.991 29 0% 51 35.3% 1 100% - - - NULL HCN4 10021 genome.wustl.edu 37 15 73617684 73617684 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005477.2 -1 reviewed p.F564 0.962 84 0% 143 40.6% 0 - - - - superfamily_cNMP_binding HCN4 10021 genome.wustl.edu 37 15 73624615 73624615 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005477.2 -1 reviewed p.D410Y 1.000 66 0% 80 27.5% 1 100% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) HMMPfam_Ion_trans,superfamily_SSF81324 TBC1D21 161514 genome.wustl.edu 37 15 74177161 74177161 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153356.1 +1 provisional p.G136D 1.000 46 0% 42 31% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMSmart_TBC,superfamily_RabGAP_TBC ISLR2 57611 genome.wustl.edu 37 15 74425596 74425596 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130136.1 +1 validated p.F167 1.000 24 0% 53 41.5% 4 75% - - - HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 CYP11A1 1583 genome.wustl.edu 37 15 74631939 74631939 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000781.2 -1 reviewed p.K382N 1.000 219 0% 200 29% 14 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 CLK3 1198 genome.wustl.edu 37 15 74917251 74917251 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130028.1 +1 reviewed p.S329Y 0.996 60 0% 79 34.2% 66 39.3% possibly_damaging(0.828) deleterious(0.01) deleterious(0.720) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase ENSG00000233166 0 genome.wustl.edu 37 15 75595013 75595013 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000454231 -1 known p.S3L 0.469 10 0% 10 40% 0 - - - - NULL LOC646791 646791 genome.wustl.edu 37 15 75614196 75614196 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_017650.3 -1 model NULL 0.926 261 0% 427 27.4% 0 - - - - - SIN3A 25942 genome.wustl.edu 37 15 75687184 75687184 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145357.1 -1 reviewed p.E705A 1.000 156 0% 65 20% 25 56% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNX33 257364 genome.wustl.edu 37 15 75942680 75942680 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153271.1 +1 provisional p.E413* 1.000 78 0% 155 37.4% 10 0% - - - HMMPfam_BAR_3_WASP_bdg CSPG4 1464 genome.wustl.edu 37 15 75981848 75981848 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001897.4 -1 reviewed p.L520 0.933 11 0% 22 27.3% 2 0% - - - NULL ENSG00000187812 0 genome.wustl.edu 37 15 76069698 76069698 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000395215 +1 known p.E31* 1.000 53 0% 38 23.7% 0 - - - - NULL ENSG00000187812 0 genome.wustl.edu 37 15 76074721 76074721 + Missense_Mutation SNP C C T rs192258934 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000395215 +1 known p.S251L 0.087 56 0% 72 36.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FBXO22 26263 genome.wustl.edu 37 15 76225317 76225317 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_147188.1 +1 reviewed p.E362D 0.996 330 0% 179 30.2% 32 43.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FIST_C SCAPER 49855 genome.wustl.edu 37 15 76995327 76995327 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020843.2 -1 validated p.R754Q 1.000 66 0% 52 38.5% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SCAPER 49855 genome.wustl.edu 37 15 77021036 77021036 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020843.2 -1 validated p.E688* 1.000 350 0% 138 31.2% 4 0% - - - NULL SCAPER 49855 genome.wustl.edu 37 15 77064151 77064151 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020843.2 -1 validated p.N393H 0.000 237 0% 89 36% 1 0% benign(0.114) tolerated(0.14) neutral(0.259) NULL SCAPER 49855 genome.wustl.edu 37 15 77064234 77064234 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020843.2 -1 validated p.R365Q 0.000 167 0% 63 34.9% 1 0% benign(0.001) tolerated(0.46) neutral(0.012) NULL TSPAN3 10099 genome.wustl.edu 37 15 77345214 77345214 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005724.5 -1 reviewed p.E164* 1.000 112 0% 66 28.8% 208 2.4% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin SGK269 79834 genome.wustl.edu 37 15 77473846 77473846 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024776.2 -1 validated p.K141N 0.328 219 0% 122 24.6% 6 50% benign(0.012) tolerated(0.08) neutral(0.300) NULL HMG20A 10363 genome.wustl.edu 37 15 77759563 77759563 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018200.2 +1 provisional p.R122* 1.000 84 0% 58 43.1% 11 18.1% - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box ACSBG1 23205 genome.wustl.edu 37 15 78500375 78500375 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015162.3 -1 reviewed p.E67 0.069 97 0% 88 29.5% 0 - - - - NULL CRABP1 1381 genome.wustl.edu 37 15 78633555 78633555 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004378.2 +1 reviewed p.K81E 1.000 32 0% 68 20.6% 164 56.7% benign(0) tolerated(0.54) neutral(0.007) HMMPfam_Lipocalin,superfamily_Lipocalins IREB2 3658 genome.wustl.edu 37 15 78770658 78770658 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004136.2 +1 validated p.L405 0.012 153 0% 256 32.4% 18 66.6% - - - HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain IREB2 3658 genome.wustl.edu 37 15 78770659 78770659 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004136.2 +1 validated p.E406K 0.006 150 0% 259 34.7% 18 27.7% benign(0) tolerated(0.84) neutral(0.001) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain IREB2 3658 genome.wustl.edu 37 15 78781107 78781107 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004136.2 +1 validated p.K690N 0.971 99 0% 82 37.8% 14 35.7% possibly_damaging(0.478) tolerated(0.62) neutral(0.162) superfamily_Aconitase iron-sulfur domain AGPHD1 123688 genome.wustl.edu 37 15 78825726 78825726 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013619.2 +1 validated p.S279N 0.000 180 0% 203 27.6% 3 33.3% benign(0) tolerated(0.32) neutral(0.024) HMMPfam_APH CHRNA5 1138 genome.wustl.edu 37 15 78880692 78880692 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000745.2 +1 provisional p.D114Y 1.000 177 0% 100 23% 2 50% possibly_damaging(0.625) deleterious(0) deleterious(0.662) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD CHRNB4 1143 genome.wustl.edu 37 15 78921776 78921776 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000750.3 -1 validated p.D291N 0.797 131 0% 177 28.2% 0 - benign(0.047) tolerated(0.09) neutral(0.299) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM ANKRD34C 390616 genome.wustl.edu 37 15 79585947 79585947 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343327.1 +1 model p.E107D 0.963 41 0% 28 46.4% 0 - benign(0.004) tolerated(0.69) neutral(0.002) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD34C 390616 genome.wustl.edu 37 15 79586122 79586122 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343327.1 +1 model p.Q166* 1.000 53 0% 49 30.6% 0 - - - - NULL LOC647020 647020 genome.wustl.edu 37 15 81410291 81410291 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001719614.2 -1 model p.D169Y 1.000 98 0% 192 26% 0 - - - - superfamily_L domain-like LOC647020 647020 genome.wustl.edu 37 15 81410432 81410432 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001719614.2 -1 model p.D122Y 1.000 72 0% 107 29% 0 - - - - superfamily_L domain-like C15orf26 161502 genome.wustl.edu 37 15 81427651 81427651 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173528.2 +1 predicted p.K37T 0.009 95 0% 161 26.7% 0 - benign(0.27) deleterious(0.01) neutral(0.435) NULL IL16 3603 genome.wustl.edu 37 15 81561934 81561934 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172217.3 +1 reviewed p.G207V 0.966 64 0% 39 30.8% 0 - possibly_damaging(0.647) deleterious(0.02) deleterious(0.610) superfamily_PDZ domain-like STARD5 80765 genome.wustl.edu 37 15 81610812 81610812 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181900.2 -1 validated p.P144 0.864 53 0% 74 39.2% 14 21.4% - - - HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like TMC3 342125 genome.wustl.edu 37 15 81625359 81625359 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080532.1 -1 provisional p.N902H 0.000 69 0% 76 28.9% 0 - possibly_damaging(0.476) deleterious(0.03) deleterious(0.521) NULL TMC3 342125 genome.wustl.edu 37 15 81637234 81637234 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080532.1 -1 provisional p.R464I 0.082 255 0% 142 31% 0 - possibly_damaging(0.929) tolerated(0.16) neutral(0.435) NULL TMC3 342125 genome.wustl.edu 37 15 81666342 81666342 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080532.1 -1 provisional p.S26Y 1.000 104 0% 36 52.8% 0 - possibly_damaging(0.931) deleterious(0.03) deleterious(0.742) NULL EFTUD1 79631 genome.wustl.edu 37 15 82431176 82431176 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024580.5 -1 validated p.V999 1.000 67 0% 30 46.7% 49 61.2% - - - HMMPfam_EFG_C,superfamily_EF-G C-terminal domain-like EFTUD1 79631 genome.wustl.edu 37 15 82444715 82444715 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024580.5 -1 validated p.E694* 1.000 109 0% 45 37.8% 8 12.5% - - - superfamily_Ribosomal protein S5 domain 2-like CPEB1 64506 genome.wustl.edu 37 15 83226577 83226577 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030594.3 -1 reviewed p.S180Y 1.000 148 0% 108 11.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL AP3B2 8120 genome.wustl.edu 37 15 83345366 83345366 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004644.3 -1 validated p.I504 1.000 78 0% 124 40.3% 1 100% - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold WHAMM 123720 genome.wustl.edu 37 15 83499656 83499656 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080435.1 +1 provisional p.P649 0.000 28 0% 30 26.7% 5 80% - - - NULL BTBD1 53339 genome.wustl.edu 37 15 83725293 83725293 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025238.3 -1 reviewed p.L136I 1.000 128 0% 121 33.9% 28 50% probably_damaging(0.992) tolerated(0.28) deleterious(0.479) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB BNC1 646 genome.wustl.edu 37 15 83926261 83926261 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001717.3 -1 reviewed p.R973Q 0.997 109 0% 82 37.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_ZnF_C2H2 BNC1 646 genome.wustl.edu 37 15 83933478 83933478 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001717.3 -1 reviewed p.E175D 1.000 102 0% 49 22.4% 0 - benign(0.054) deleterious(0.01) neutral(0.409) NULL BNC1 646 genome.wustl.edu 37 15 83935606 83935606 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001717.3 -1 reviewed p.I139 0.993 41 0% 36 36.1% 0 - - - - NULL LOC648809 648809 genome.wustl.edu 37 15 84795269 84795269 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001713991.2 +1 model p.A179V 0.999 145 0% 68 19.1% 0 - - - - superfamily_Translation proteins SEC11A 23478 genome.wustl.edu 37 15 85213986 85213986 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014300.2 -1 provisional p.T153 0.111 82 0% 143 34.3% 241 44.3% - - - NULL ALPK3 57538 genome.wustl.edu 37 15 85399973 85399973 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020778.4 +1 validated p.E870D 0.004 214 0% 310 29.4% 1 0% benign(0) tolerated(1) - NULL PDE8A 5151 genome.wustl.edu 37 15 85669508 85669508 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002605.2 +1 validated p.R719Q 0.980 113 0% 56 25% 14 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like AKAP13 11214 genome.wustl.edu 37 15 86262461 86262461 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006738.4 +1 reviewed p.F2056L 0.997 179 0% 65 46.2% 7 57.1% probably_damaging(0.965) tolerated(0.08) deleterious(0.707) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain AGBL1 123624 genome.wustl.edu 37 15 86790919 86790919 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152336.2 +1 validated p.A136T 1.000 28 0% 28 25% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM repeat LOC100288732 100288732 genome.wustl.edu 37 15 88671916 88671916 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343392.1 +1 model p.Q64K 0.132 76 0% 73 26% 0 - - - - NULL DET1 55070 genome.wustl.edu 37 15 89070886 89070886 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017996.3 -1 validated p.E416D 1.000 92 0% 167 29.3% 13 46.1% benign(0.076) tolerated(0.61) neutral(0.009) HMMPfam_Det1 ACAN 176 genome.wustl.edu 37 15 89382240 89382240 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013227.3 +1 reviewed p.I139 0.092 72 0% 76 35.5% 1 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MFGE8 4240 genome.wustl.edu 37 15 89442929 89442929 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005928.2 -1 validated p.A328 0.000 71 0% 131 24.4% 321 34.2% - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like MFGE8 4240 genome.wustl.edu 37 15 89453024 89453024 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005928.2 -1 validated p.T68 0.001 84 0% 137 35% 288 32.2% - - - PatternScan_EGF_2,superfamily_EGF/Laminin FANCI 55215 genome.wustl.edu 37 15 89817416 89817416 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113378.1 +1 reviewed p.K331N 0.228 124 0% 66 30.3% 6 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL FANCI 55215 genome.wustl.edu 37 15 89834847 89834847 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113378.1 +1 reviewed p.K632Q 1.000 167 0% 218 30.7% 20 65% probably_damaging(0.99) tolerated(0.12) deleterious(0.702) NULL FANCI 55215 genome.wustl.edu 37 15 89856142 89856142 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113378.1 +1 reviewed p.S1220I 0.682 79 0% 94 25.5% 19 63.1% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) NULL RHCG 51458 genome.wustl.edu 37 15 90026324 90026324 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016321.1 -1 provisional p.E166* 1.000 50 0% 72 37.5% 2 0% - - - HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) C15orf42 90381 genome.wustl.edu 37 15 90162962 90162962 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152259.3 +1 validated p.R1015* 1.000 92 0% 103 23.3% 4 25% - - - NULL C15orf42 90381 genome.wustl.edu 37 15 90167498 90167498 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152259.3 +1 validated p.V1319 0.040 67 0% 88 31.8% 6 50% - - - NULL PEX11A 8800 genome.wustl.edu 37 15 90226887 90226887 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003847.1 -1 provisional p.K155N 0.000 182 0% 165 26.1% 12 41.6% possibly_damaging(0.7) tolerated(0.4) neutral(0.268) HMMPfam_PEX11 SEMA4B 10509 genome.wustl.edu 37 15 90764602 90764602 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020210.3 +1 validated p.G200D 1.000 24 0% 47 34% 46 65.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain ZNF774 342132 genome.wustl.edu 37 15 90903827 90903827 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004309.2 +1 validated p.R255I 1.000 39 0% 36 44.4% 3 66.6% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers IQGAP1 8826 genome.wustl.edu 37 15 91040551 91040551 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003870.3 +1 reviewed p.E1613D 1.000 68 0% 49 22.4% 37 27% possibly_damaging(0.706) tolerated(0.22) neutral(0.296) NULL CRTC3 64784 genome.wustl.edu 37 15 91185346 91185346 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022769.3 +1 validated p.E612* 1.000 61 0% 84 34.5% 16 50% - - - NULL SV2B 9899 genome.wustl.edu 37 15 91803627 91803627 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014848.4 +1 validated p.E332D 1.000 156 0% 89 32.6% 0 - probably_damaging(1) tolerated(0.36) deleterious(0.520) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLCO3A1 28232 genome.wustl.edu 37 15 92638181 92638181 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013272.3 +1 validated p.I239 1.000 286 0.7% 158 32.9% 2 0% - - - HMMPfam_OATP,superfamily_MFS general substrate transporter CHD2 1106 genome.wustl.edu 37 15 93489438 93489438 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001271.3 +1 reviewed p.E457* 1.000 59 0% 47 36.2% 17 52.9% - - - superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases CHD2 1106 genome.wustl.edu 37 15 93547887 93547887 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001271.3 +1 reviewed p.R1440Q 1.000 104 0% 96 24% 28 28.5% possibly_damaging(0.644) tolerated(0.41) neutral(0.240) superfamily_P-loop containing nucleoside triphosphate hydrolases RGMA 56963 genome.wustl.edu 37 15 93595242 93595242 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020211.2 -1 reviewed p.A209V 0.001 31 0% 78 29.5% 19 42.1% benign(0.024) tolerated(0.06) neutral(0.324) HMMPfam_RGM_N FAM149B2 100113400 genome.wustl.edu 37 15 97301205 97301205 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000398303 +1 known p.Q169R 0.383 164 0% 238 25.2% 0 - - - - NULL SPATA8 145946 genome.wustl.edu 37 15 97328313 97328313 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173499.3 +1 provisional p.R95K 0.000 128 0% 176 31.2% 0 - unknown(0) - - NULL FAM169B 283777 genome.wustl.edu 37 15 98995162 98995162 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182562.2 -1 validated p.W88R 0.042 71 0% 37 35.1% 0 - benign(0) tolerated(1) - NULL IGF1R 3480 genome.wustl.edu 37 15 99465635 99465635 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000875.3 +1 reviewed p.F820 0.623 74 0% 72 37.5% 24 33.3% - - - NULL SYNM 23336 genome.wustl.edu 37 15 99672779 99672779 + Missense_Mutation SNP G G A rs138650780 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000336292 +1 known p.R1404Q 0.000 79 0% 114 34.2% 0 - benign(0.002) tolerated(0.41) neutral(0.015) NULL TTC23 64927 genome.wustl.edu 37 15 99758880 99758880 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040655.1 -1 validated p.R165K 0.994 346 0% 213 34.7% 7 42.8% benign(0.01) tolerated(0.91) neutral(0.001) HMMSmart_SM00028,superfamily_TPR-like HSP90B2P 7190 genome.wustl.edu 37 15 99799914 99799914 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000378906 +1 known p.R338* 0.003 128 0% 106 32.1% 8 0% - - - HMMPfam_HSP90,superfamily_SSF110942 CERS3 204219 genome.wustl.edu 37 15 101020206 101020206 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178842.3 -1 validated p.A151 0.076 71 0% 57 26.3% 0 - - - - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 LRRK1 79705 genome.wustl.edu 37 15 101528955 101528955 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024652.3 +1 validated p.A184T 1.000 61 0% 37 37.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ank,superfamily_Ankyrin repeat CHSY1 22856 genome.wustl.edu 37 15 101718515 101718515 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000254190 -1 known p.R496I 0.007 83 0% 105 30.5% 27 14.8% benign(0.004) tolerated(0.24) neutral(0.037) HMMPfam_CHGN,superfamily_SSF53448 OR4F4 26682 genome.wustl.edu 37 15 102462817 102462817 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004195.2 -1 provisional p.S149L 0.007 560 0% 229 17% 0 - possibly_damaging(0.938) deleterious(0) deleterious(0.828) HMMPfam_7tm_1,superfamily_SSF81321 LOC100129478 100129478 genome.wustl.edu 37 16 281411 281411 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001719774.2 +1 model p.F93L 0.959 119 0% 258 28.3% 0 - - - - NULL WDR90 197335 genome.wustl.edu 37 16 701235 701235 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145294.4 +1 provisional p.P235 0.000 74 0% 121 35.5% 8 87.5% - - - NULL PRR25 388199 genome.wustl.edu 37 16 855743 855743 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013638.1 +1 provisional p.A101T 0.001 28 0% 46 21.7% 0 - unknown(0) - - NULL SSTR5 6755 genome.wustl.edu 37 16 1129693 1129693 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001053.3 +1 reviewed p.A275 0.001 152 0.7% 256 25.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CACNA1H 8912 genome.wustl.edu 37 16 1265028 1265028 + Silent SNP C C T rs60938322 byCluster TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021098.2 +1 reviewed p.F1662 0.014 348 0% 532 31.6% 4 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels BAIAP3 8938 genome.wustl.edu 37 16 1395990 1395991 + Frame_Shift_Del DEL GT GT - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003933.3 +1 reviewed p.C774fs 0.199:0.921 - - - - - - - - - NULL C16orf73 254528 genome.wustl.edu 37 16 1891940 1891940 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152764.2 -1 validated p.Q305H 0.007 171 0% 194 32% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C16orf73 254528 genome.wustl.edu 37 16 1912118 1912118 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152764.2 -1 validated e3-1 1.000 81 0% 87 31% 0 - - - - - HS3ST6 64711 genome.wustl.edu 37 16 1962098 1962098 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009606.2 -1 validated p.T143 0.995 39 0% 37 21.6% 1 100% - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases TRAF7 84231 genome.wustl.edu 37 16 2226167 2226167 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032271.2 +1 validated p.D622N 1.000 31 0% 66 37.9% 193 45.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CASKIN1 57524 genome.wustl.edu 37 16 2235141 2235141 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020764.3 -1 validated p.A404T 0.000 30 0% 61 36.1% 0 - benign(0.001) tolerated(0.39) neutral(0.016) NULL CCNF 899 genome.wustl.edu 37 16 2485828 2485828 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001761.2 +1 reviewed p.F100 1.000 132 0% 185 31.9% 17 35.2% - - - superfamily_SSF81383 SRRM2 23524 genome.wustl.edu 37 16 2815124 2815124 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016333.3 +1 validated p.P1532L 0.993 66 0% 70 37.1% 102 46% unknown(0) - - NULL FLYWCH1 84256 genome.wustl.edu 37 16 2979803 2979803 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032296.2 +1 validated p.F39L 0.105 39 0% 98 28.6% 18 38.8% possibly_damaging(0.808) tolerated(0.38) neutral(0.322) NULL TIGD7 91151 genome.wustl.edu 37 16 3350146 3350146 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033208.2 -1 validated p.R157* 0.809 139 0% 219 33.3% 15 60% - - - NULL ZNF434 54925 genome.wustl.edu 37 16 3433324 3433324 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017810.2 -1 provisional p.R329I 0.988 104 0% 71 28.2% 7 42.8% possibly_damaging(0.529) tolerated(0.08) deleterious(0.478) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF174 7727 genome.wustl.edu 37 16 3452349 3452349 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003450.2 +1 validated p.K115N 0.999 46 0% 63 23.8% 18 55.5% possibly_damaging(0.718) deleterious(0) deleterious(0.705) HMMPfam_SCAN,HMMSmart_SM00431 CLUAP1 23059 genome.wustl.edu 37 16 3554789 3554789 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015041.1 +1 provisional p.N31T 1.000 202 0% 336 32.7% 10 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cluap1 NLRC3 197358 genome.wustl.edu 37 16 3607639 3607639 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178844.2 -1 validated p.A685D 1.000 157 0% 219 26.9% 2 0% possibly_damaging(0.706) tolerated(0.36) neutral(0.274) HMMSmart_SM00368,superfamily_RNI-like SLX4 84464 genome.wustl.edu 37 16 3641185 3641185 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032444.2 -1 provisional p.L818 0.860 158 0% 259 38.6% 8 37.5% - - - NULL CREBBP 1387 genome.wustl.edu 37 16 3794921 3794921 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004380.2 -1 reviewed p.R1319Q 0.997 252 0% 252 33.3% 20 45% unknown(0) deleterious(0.01) - HMMPfam_DUF906 CREBBP 1387 genome.wustl.edu 37 16 3827632 3827632 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004380.2 -1 reviewed p.R714C 1.000 82 0% 129 26.4% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADCY9 115 genome.wustl.edu 37 16 4016169 4016169 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001116.2 -1 reviewed p.F1223 0.879 121 0.8% 219 32.4% 11 27.2% - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain ADCY9 115 genome.wustl.edu 37 16 4016839 4016839 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001116.2 -1 reviewed p.F1000C 0.999 39 0% 60 40% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADCY9 115 genome.wustl.edu 37 16 4029277 4029277 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001116.2 -1 reviewed e7-1 1.000 44 0% 85 37.6% 0 - - - - - SRL 6345 genome.wustl.edu 37 16 4242930 4242930 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098814.1 -1 validated p.D216N 1.000 40 0% 34 32.4% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_SSF52540 SEPT12 124404 genome.wustl.edu 37 16 4835879 4835879 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144605.3 -1 validated p.E101D 1.000 65 0% 149 27.5% 0 - possibly_damaging(0.892) deleterious(0) deleterious(0.796) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases ABAT 18 genome.wustl.edu 37 16 8873429 8873429 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000663.4 +1 reviewed p.L455V 0.097 121 0% 112 22.3% 10 50% benign(0) tolerated(0.32) neutral(0.024) superfamily_PyrdxlP-dep_Trfase_major TMEM186 25880 genome.wustl.edu 37 16 8890167 8890167 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015421.3 -1 validated p.Q95R 0.998 104 0% 160 29.4% 38 39.4% benign(0.081) tolerated(0.1) neutral(0.292) NULL GRIN2A 2903 genome.wustl.edu 37 16 9857544 9857544 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000833.3 -1 reviewed p.I1286S 1.000 142 0% 74 41.9% 0 - benign(0.299) deleterious(0) deleterious(0.537) HMMPfam_NMDAR2_C NUBP1 4682 genome.wustl.edu 37 16 10855621 10855621 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002484.2 +1 validated p.S242Y 0.999 62 0% 105 29.5% 56 35.7% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_ParA,superfamily_P-loop containing nucleoside triphosphate hydrolases CIITA 4261 genome.wustl.edu 37 16 11001030 11001030 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000246.3 +1 reviewed p.D561N 0.926 12 0% 28 39.3% 14 28.5% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_NACHT CIITA 4261 genome.wustl.edu 37 16 11001528 11001528 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000246.3 +1 reviewed p.E727K 0.091 46 0% 55 29.1% 16 31.2% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) NULL TXNDC11 51061 genome.wustl.edu 37 16 11785384 11785384 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015914.5 -1 provisional p.E554D 0.993 122 0% 131 27.5% 70 40% benign(0.001) tolerated(0.32) neutral(0.024) NULL ZC3H7A 29066 genome.wustl.edu 37 16 11861372 11861372 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014153.2 -1 provisional p.L475V 1.000 346 0% 205 28.3% 17 41.1% probably_damaging(0.965) tolerated(0.08) deleterious(0.707) NULL SNX29 92017 genome.wustl.edu 37 16 12492330 12492330 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080530.2 +1 provisional p.E258K 0.991 160 0% 74 33.8% 2 0% possibly_damaging(0.824) tolerated(0.09) deleterious(0.609) NULL SNX29 92017 genome.wustl.edu 37 16 12497348 12497348 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080530.2 +1 provisional p.L282I 1.000 212 0% 134 31.3% 4 25% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMSmart_SM00312,superfamily_PX domain MKL2 57496 genome.wustl.edu 37 16 14311132 14311132 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014048.3 +1 validated p.E168* 1.000 96 0% 31 22.6% 6 0% - - - NULL PARN 5073 genome.wustl.edu 37 16 14693805 14693805 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002582.2 -1 reviewed p.D266Y 1.000 125 0% 102 12.7% 28 14.2% probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_CAF1,superfamily_Ribonuclease H-like RRN3 54700 genome.wustl.edu 37 16 15170405 15170405 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000327307 -1 known p.L290V 0.010 132 0% 149 29.5% 0 - - - - NULL KIAA0430 9665 genome.wustl.edu 37 16 15703483 15703483 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014647.3 -1 validated p.F1284C 1.000 101 0% 76 27.6% 22 59% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0430 9665 genome.wustl.edu 37 16 15719487 15719487 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014647.3 -1 validated p.Q565H 1.000 152 0.7% 102 14.7% 7 14.2% benign(0.004) tolerated(0.21) neutral(0.044) HMMSmart_SM00360,superfamily_RNA-binding domain RBD KIAA0430 9665 genome.wustl.edu 37 16 15727480 15727480 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014647.3 -1 validated p.N409 1.000 85 0% 60 40% 9 77.7% - - - HMMPfam_DUF537 MYH11 4629 genome.wustl.edu 37 16 15802674 15802674 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000396320 -1 known p.R1944H 1.000 52 0% 53 32.1% 1 0% benign(0.012) tolerated(0.14) neutral(0.250) NULL MYH11 4629 genome.wustl.edu 37 16 15814739 15814739 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040114.1 -1 reviewed p.R1590Q 1.000 99 0% 132 34.1% 9 0% probably_damaging(0.972) deleterious(0.04) deleterious(0.763) HMMPfam_Myosin_tail_1 MYH11 4629 genome.wustl.edu 37 16 15839036 15839036 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040114.1 -1 reviewed p.A831T 1.000 87 0% 80 27.5% 5 0% possibly_damaging(0.839) tolerated(0.22) neutral(0.362) superfamily_SSF52540 ABCC1 4363 genome.wustl.edu 37 16 16162153 16162153 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004996.3 +1 reviewed p.I606 0.945 117 0% 72 34.7% 44 38.6% - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC1 4363 genome.wustl.edu 37 16 16177361 16177361 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004996.3 +1 reviewed p.I752L 1.000 75 0% 38 34.2% 34 50% benign(0.285) tolerated(1) neutral(0.087) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC6 368 genome.wustl.edu 37 16 16253384 16253384 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001171.5 -1 reviewed p.I1230 0.933 106 0% 89 31.5% 0 - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC6P1 653190 genome.wustl.edu 37 16 18602456 18602456 + RNA SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_003569.1 +1 provisional NULL 0.003 75 0% 54 29.6% 0 - benign(0.003) tolerated(0.13) neutral(0.253) - SMG1 23049 genome.wustl.edu 37 16 18866194 18866194 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015092.4 -1 reviewed p.E1423K 1.000 162 0% 93 20.4% 3 33.3% possibly_damaging(0.653) tolerated(0.11) deleterious(0.501) superfamily_ARM repeat TMC5 79838 genome.wustl.edu 37 16 19488796 19488796 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105248.1 +1 validated p.L709F 1.000 282 0% 175 35.4% 0 - benign(0.346) deleterious(0.01) deleterious(0.515) NULL C16orf88 400506 genome.wustl.edu 37 16 19726276 19726276 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012991.2 -1 provisional p.R28* 0.091 69 0% 99 27.3% 20 35% - - - NULL IQCK 124152 genome.wustl.edu 37 16 19775186 19775186 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153208.1 +1 provisional p.F164C 1.000 211 0% 154 40.9% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GP2 2813 genome.wustl.edu 37 16 20328557 20328557 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007240.1 -1 validated p.S468Y 0.000 73 0% 23 47.8% 0 - benign(0.372) tolerated(0.82) neutral(0.119) HMMPfam_Zona_pellucida,HMMSmart_SM00241 GP2 2813 genome.wustl.edu 37 16 20335551 20335551 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007240.1 -1 validated p.S41L 0.012 31 0% 20 20% 0 - possibly_damaging(0.832) deleterious(0.01) deleterious(0.723) NULL PDILT 204474 genome.wustl.edu 37 16 20387484 20387484 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174924.1 -1 provisional p.R150Q 1.000 101 0% 59 39% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Thiordxn-like_fd ACSM2B 348158 genome.wustl.edu 37 16 20576007 20576007 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105069.1 -1 validated p.W54* 1.000 251 0% 123 22.8% 0 - - - - superfamily_Acetyl-CoA synthetase-like ACSM3 6296 genome.wustl.edu 37 16 20788724 20788724 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005622.3 +1 validated p.L154V 1.000 67 0% 65 24.6% 18 27.7% possibly_damaging(0.928) deleterious(0) deleterious(0.820) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM3 6296 genome.wustl.edu 37 16 20792346 20792346 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005622.3 +1 validated p.T278M 1.000 261 0% 124 46% 35 54.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM3 6296 genome.wustl.edu 37 16 20793090 20793090 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005622.3 +1 validated p.V334I 0.939 176 0% 71 25.4% 23 43.4% benign(0.07) tolerated(0.88) neutral(0.005) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ERI2 112479 genome.wustl.edu 37 16 20809418 20809418 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142725.1 -1 validated p.S568 0.000 302 0% 194 28.4% 5 100% - - - NULL LOC81691 81691 genome.wustl.edu 37 16 20835783 20835783 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030941.2 +1 validated p.F213L 0.997 223 0% 93 30.1% 5 40% benign(0.106) deleterious(0.02) neutral(0.391) superfamily_Ribonuclease H-like DNAH3 55567 genome.wustl.edu 37 16 20996835 20996835 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017539.1 -1 provisional p.R2410M 0.073 78 0% 102 39.2% 0 - possibly_damaging(0.93) deleterious(0) deleterious(0.821) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 20999158 20999158 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017539.1 -1 provisional p.L2247 0.990 133 0% 235 37% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21011658 21011658 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017539.1 -1 provisional p.F2103L 1.000 232 0% 159 28.9% 0 - possibly_damaging(0.476) deleterious(0.01) deleterious(0.562) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21147832 21147832 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017539.1 -1 provisional p.R233S 1.000 174 0% 118 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZP2 7783 genome.wustl.edu 37 16 21218198 21218198 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003460.1 -1 reviewed p.G148 0.000 149 0% 57 33.3% 0 - - - - NULL ANKS4B 257629 genome.wustl.edu 37 16 21245126 21245126 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145865.2 +1 validated p.R23Q 1.000 118 0% 58 19% 0 - possibly_damaging(0.883) deleterious(0.02) deleterious(0.728) superfamily_Ankyrin repeat ANKS4B 257629 genome.wustl.edu 37 16 21261384 21261384 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145865.2 +1 validated p.S166I 0.093 119 0% 59 32.2% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL METTL9 51108 genome.wustl.edu 37 16 21636355 21636355 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016025.3 +1 validated p.D224Y 1.000 112 0% 153 37.3% 144 42.3% probably_damaging(0.958) deleterious(0.02) deleterious(0.784) HMMPfam_DREV,superfamily_S-adenosyl-L-methionine-dependent methyltransferases OTOA 146183 genome.wustl.edu 37 16 21696597 21696597 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144672.3 +1 reviewed p.K105T 0.998 32 0% 30 20% 0 - possibly_damaging(0.692) tolerated(0.09) deleterious(0.544) NULL VWA3A 146177 genome.wustl.edu 37 16 22142928 22142928 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173615.3 +1 validated p.R584 0.000 54 0% 45 15.6% 1 0% - - - superfamily_vWA-like VWA3A 146177 genome.wustl.edu 37 16 22153010 22153010 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173615.3 +1 validated p.V831M 0.981 86 0% 68 33.8% 0 - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL VWA3A 146177 genome.wustl.edu 37 16 22153013 22153013 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173615.3 +1 validated p.G832S 1.000 84 0% 67 28.4% 0 - probably_damaging(0.999) tolerated(0.28) deleterious(0.522) NULL VWA3A 146177 genome.wustl.edu 37 16 22153991 22153991 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173615.3 +1 validated p.S833A 0.006 47 0% 61 26.2% 0 - benign(0.002) tolerated(1) - NULL RRN3P3 100131998 genome.wustl.edu 37 16 22447015 22447015 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000415797 -1 known p.F40C 1.000 39 0% 101 28.7% 3 0% - - - HMMPfam_RRN3 HS3ST2 9956 genome.wustl.edu 37 16 22926601 22926601 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006043.1 +1 reviewed p.G274 0.167 75 0% 33 12.1% 1 0% - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 USP31 57478 genome.wustl.edu 37 16 23080121 23080121 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020718.3 -1 validated p.K1102T 0.111 84 0% 79 29.1% 3 66.6% benign(0.313) tolerated(0.25) neutral(0.135) NULL SCNN1G 6340 genome.wustl.edu 37 16 23203723 23203723 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039.3 +1 reviewed p.I223 0.998 110 0% 113 25.7% 2 50% - - - HMMPfam_ASC SCNN1B 6338 genome.wustl.edu 37 16 23382703 23382703 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000336.2 +1 reviewed p.E322K 0.997 62 0% 55 34.5% 4 50% possibly_damaging(0.701) tolerated(0.45) neutral(0.264) HMMPfam_ASC RBBP6 5930 genome.wustl.edu 37 16 24564851 24564851 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006910.4 +1 reviewed p.A107 0.799 315 0% 157 23.6% 20 60% - - - NULL RBBP6 5930 genome.wustl.edu 37 16 24582237 24582237 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006910.4 +1 reviewed p.E1284* 1.000 51 0% 85 27.1% 21 42.8% - - - NULL RBBP6 5930 genome.wustl.edu 37 16 24583347 24583347 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006910.4 +1 reviewed p.E1654* 1.000 69 0% 108 38% 21 42.8% - - - NULL SLC5A11 115584 genome.wustl.edu 37 16 24888673 24888673 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052944.2 +1 provisional p.Y191C 1.000 86 0% 60 30% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_SSF SLC5A11 115584 genome.wustl.edu 37 16 24920280 24920280 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052944.2 +1 provisional p.R505* 0.244 84 0% 86 31.4% 0 - - - - NULL ZKSCAN2 342357 genome.wustl.edu 37 16 25251325 25251325 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012981.4 -1 validated p.R906W 0.901 145 0% 68 30.9% 4 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GTF3C1 2975 genome.wustl.edu 37 16 27494433 27494433 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001520.3 -1 validated p.E1339K 0.998 107 0% 151 29.8% 47 31.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GTF3C1 2975 genome.wustl.edu 37 16 27495632 27495632 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001520.3 -1 validated p.L1301 0.004 98 0% 129 33.3% 67 44.7% - - - NULL KIAA0556 23247 genome.wustl.edu 37 16 27777741 27777741 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015202.2 +1 validated p.I1307 0.994 47 0% 63 25.4% 11 36.3% - - - superfamily_Galactose-binding domain-like GSG1L 146395 genome.wustl.edu 37 16 27974516 27974516 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001109763.1 -1 validated p.C120G 0.996 124 0% 79 12.7% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_GSG-1 ATXN2L 11273 genome.wustl.edu 37 16 28844608 28844608 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_148414.1 +1 reviewed p.S630R 0.641 59 0% 88 23.9% 137 39.4% benign(0.132) deleterious(0.02) neutral(0.394) NULL ATP2A1 487 genome.wustl.edu 37 16 28900171 28900171 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173201.2 +1 reviewed p.A331V 1.000 77 0% 90 30% 1 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M RABEP2 79874 genome.wustl.edu 37 16 28919975 28919975 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024816.2 -1 validated p.S400 0.939 75 0% 141 29.8% 42 64.2% - - - HMMPfam_Rab5-bind RRN3P2 653390 genome.wustl.edu 37 16 29088081 29088081 + Missense_Mutation SNP C C T rs2432514 byCluster TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000415221 +1 known p.T65M 0.995 196 0% 415 36.6% 0 - possibly_damaging(0.947) deleterious(0.01) deleterious(0.796) NULL MVP 9961 genome.wustl.edu 37 16 29855977 29855977 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005115.3 +1 reviewed p.R600C 1.000 55 0% 93 43% 116 23.2% benign(0.196) tolerated(0.15) neutral(0.260) NULL ITGAL 3683 genome.wustl.edu 37 16 30490775 30490775 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002209.2 +1 reviewed p.S190L 1.000 110 0% 93 30.1% 12 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain SRCAP 10847 genome.wustl.edu 37 16 30724019 30724019 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006662.2 +1 validated p.L671F 1.000 132 0% 135 30.4% 27 55.5% unknown(0) - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases SETD1A 9739 genome.wustl.edu 37 16 30970478 30970478 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014712.1 +1 provisional p.D73Y 1.000 176 0% 327 31.5% 18 38.8% possibly_damaging(0.94) - - NULL SETD1A 9739 genome.wustl.edu 37 16 30977560 30977560 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014712.1 +1 provisional p.P786 0.000 15 0% 36 36.1% 31 48.3% - - - NULL PRSS53 339105 genome.wustl.edu 37 16 31097751 31097751 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039503.2 -1 validated p.I190 0.997 87 0% 146 26% 7 28.5% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ITGAM 3684 genome.wustl.edu 37 16 31286869 31286869 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000632.3 +1 reviewed e9-1 1.000 105 0% 55 43.6% 0 - - - - - ITGAM 3684 genome.wustl.edu 37 16 31341654 31341654 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000632.3 +1 reviewed p.R1029I 0.022 48 0% 82 37.8% 11 0% possibly_damaging(0.78) deleterious(0.02) deleterious(0.674) HMMPfam_Integrin_alpha2 ITGAD 3681 genome.wustl.edu 37 16 31413498 31413498 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005353.2 +1 validated p.N164H 0.005 51 0% 75 30.7% 0 - benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain ITGAD 3681 genome.wustl.edu 37 16 31434447 31434447 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005353.2 +1 validated p.S931 0.999 96 0% 152 26.3% 1 0% - - - HMMPfam_Integrin_alpha2 ITGAD 3681 genome.wustl.edu 37 16 31435264 31435264 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005353.2 +1 validated p.F1048 0.577 86 0% 99 35.4% 1 0% - - - NULL ZNF843 283933 genome.wustl.edu 37 16 31447844 31447844 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136509.1 -1 provisional p.E109 0.020 25 0% 54 31.5% 0 - - - - NULL ZNF720 124411 genome.wustl.edu 37 16 31734636 31734636 + Frame_Shift_Del DEL G G - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130913.1 +1 validated p.W63fs 0.006 - - - - - - - - - HMMSmart_SM00349 ZNF720 124411 genome.wustl.edu 37 16 31765148 31765148 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130913.1 +1 validated p.Q96H 0.536 142 0% 62 21% 5 20% possibly_damaging(0.647) tolerated(0.07) deleterious(0.546) NULL ZNF267 10308 genome.wustl.edu 37 16 31927273 31927273 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003414.4 +1 validated p.R568Q 0.999 108 0% 102 21.6% 6 16.6% probably_damaging(0.991) tolerated(0.11) deleterious(0.716) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF267 10308 genome.wustl.edu 37 16 31927357 31927357 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003414.4 +1 validated p.R596Q 0.130 128 0% 129 34.1% 11 45.4% probably_damaging(0.982) tolerated(0.38) neutral(0.444) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC401847 401847 genome.wustl.edu 37 16 33605616 33605616 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001718104.2 +1 model p.K95N 0.960 111 0% 63 19% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin GPT2 84706 genome.wustl.edu 37 16 46934656 46934656 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133443.2 +1 validated p.K132N 1.000 53 0% 92 30.4% 102 40.1% possibly_damaging(0.916) tolerated(0.13) deleterious(0.619) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases DNAJA2 10294 genome.wustl.edu 37 16 46991003 46991003 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005880.3 -1 reviewed p.D393Y 1.000 168 0% 109 32.1% 159 42.7% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL ITFG1 81533 genome.wustl.edu 37 16 47192820 47192820 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030790.3 -1 provisional p.I581 1.000 80 0% 53 28.3% 130 51.5% benign(0.048) - - NULL PHKB 5257 genome.wustl.edu 37 16 47531349 47531349 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000293.2 +1 reviewed p.R39I 1.000 115 0% 134 36.6% 20 55% possibly_damaging(0.908) tolerated(0.09) deleterious(0.658) HMMPfam_PHK_AB ABCC12 94160 genome.wustl.edu 37 16 48139248 48139248 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033226.2 -1 reviewed e19-1 0.233 47 0% 53 35.8% 0 - - - - - ABCC12 94160 genome.wustl.edu 37 16 48175190 48175190 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033226.2 -1 reviewed p.K117T 1.000 93 0% 66 39.4% 0 - possibly_damaging(0.875) tolerated(0.1) deleterious(0.627) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC11 85320 genome.wustl.edu 37 16 48248806 48248806 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032583.3 -1 reviewed p.L412F 0.873 120 0% 96 29.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain LONP2 83752 genome.wustl.edu 37 16 48381419 48381419 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031490.2 +1 provisional p.V647A 1.000 151 0% 93 35.5% 67 28.3% benign(0.051) tolerated(0.73) neutral(0.005) HMMPfam_Lon_C,superfamily_SSF52540 N4BP1 9683 genome.wustl.edu 37 16 48576983 48576983 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153029.3 -1 validated p.Q841H 0.830 139 0% 207 30.4% 38 31.5% probably_damaging(0.984) tolerated(0.06) deleterious(0.753) NULL N4BP1 9683 genome.wustl.edu 37 16 48582018 48582018 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153029.3 -1 validated p.L709I 0.628 116 0% 113 21.2% 23 30.4% probably_damaging(0.975) deleterious(0.03) deleterious(0.781) NULL ZNF423 23090 genome.wustl.edu 37 16 49671463 49671463 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015069.2 -1 reviewed p.E534K 1.000 127 0% 242 38.8% 63 42.8% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 PAPD5 64282 genome.wustl.edu 37 16 50258865 50258865 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040284.2 +1 validated p.K300 1.000 238 0% 172 28.5% 13 30.7% - - - NULL BRD7 29117 genome.wustl.edu 37 16 50383960 50383960 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013263.3 -1 validated p.D189Y 1.000 359 0% 169 32.5% 16 43.7% benign(0.002) tolerated(0.13) neutral(0.253) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain NOD2 64127 genome.wustl.edu 37 16 50745557 50745557 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022162.1 +1 reviewed p.D579Y 0.996 36 0% 51 21.6% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CYLD 1540 genome.wustl.edu 37 16 50821710 50821710 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015247.2 +1 reviewed p.F685L 1.000 70 0% 33 18.2% 19 36.8% benign(0.016) tolerated(0.06) neutral(0.323) HMMPfam_UCH,superfamily_Cysteine proteinases SALL1 6299 genome.wustl.edu 37 16 51174062 51174062 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002968.2 -1 reviewed p.L691I 1.000 33 0% 59 16.9% 11 45.4% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) NULL TOX3 27324 genome.wustl.edu 37 16 52502432 52502432 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080430.2 -1 reviewed p.A48T 1.000 153 0.7% 76 26.3% 1 0% possibly_damaging(0.86) tolerated(0.51) neutral(0.342) NULL CHD9 80205 genome.wustl.edu 37 16 53279254 53279254 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025134.4 +1 validated p.K1021E 1.000 130 0% 80 11.3% 0 - probably_damaging(0.96) deleterious(0.02) deleterious(0.786) HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 CHD9 80205 genome.wustl.edu 37 16 53319602 53319602 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025134.4 +1 validated p.F1688V 1.000 124 0% 50 30% 2 50% benign(0.047) deleterious(0.01) neutral(0.409) superfamily_SSF52540 LOC643802 643802 genome.wustl.edu 37 16 53404692 53404692 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001719265.1 -1 model p.M132I 1.000 41 0% 73 35.6% 0 - - - - HMMPfam_Mpp10 RBL2 5934 genome.wustl.edu 37 16 53476577 53476577 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005611.3 +1 validated p.E127K 1.000 64 0% 58 25.9% 13 30.7% benign(0.406) deleterious(0.03) deleterious(0.495) HMMSmart_CYCLIN RBL2 5934 genome.wustl.edu 37 16 53496543 53496543 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005611.3 +1 validated p.K512N 0.997 124 0% 66 33.3% 10 60% benign(0.014) deleterious(0.01) neutral(0.406) HMMPfam_RB_A,superfamily_Cyclin_like RBL2 5934 genome.wustl.edu 37 16 53524105 53524105 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005611.3 +1 validated p.L1105I 1.000 88 0% 66 31.8% 22 40.9% possibly_damaging(0.943) tolerated(0.54) neutral(0.395) NULL RPGRIP1L 23322 genome.wustl.edu 37 16 53692754 53692754 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015272.2 -1 reviewed p.L427R 0.919 379 0% 201 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CAPNS2 84290 genome.wustl.edu 37 16 55601144 55601144 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032330.1 +1 validated p.K159T 0.995 54 0% 24 20.8% 0 - benign(0.006) tolerated(0.07) neutral(0.319) superfamily_SSF47473 SLC6A2 6530 genome.wustl.edu 37 16 55690682 55690682 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001043.3 +1 reviewed p.R26W 0.000 30 0% 23 30.4% 1 100% possibly_damaging(0.575) deleterious(0.01) deleterious(0.603) NULL OGFOD1 55239 genome.wustl.edu 37 16 56496523 56496523 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018233.3 +1 validated p.S142F 1.000 212 0% 135 34.1% 27 37% possibly_damaging(0.662) deleterious(0) deleterious(0.678) HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 OGFOD1 55239 genome.wustl.edu 37 16 56510060 56510060 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018233.3 +1 validated p.K524 0.994 134 0% 48 16.7% 31 41.9% - - - NULL NUP93 9688 genome.wustl.edu 37 16 56868086 56868086 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014669.3 +1 validated p.F528 0.978 61 0% 31 38.7% 72 44.4% - - - HMMPfam_Nic96 CPNE2 221184 genome.wustl.edu 37 16 57159811 57159811 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152727.4 +1 reviewed p.D323N 1.000 150 0% 194 33% 111 38.7% benign(0.002) tolerated(0.53) neutral(0.007) HMMSmart_VWA,superfamily_SSF53300 CX3CL1 6376 genome.wustl.edu 37 16 57416521 57416521 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002996.3 +1 provisional p.E257D 0.001 27 0% 31 25.8% 27 44.4% benign(0.244) deleterious(0) deleterious(0.469) NULL GPR97 222487 genome.wustl.edu 37 16 57717872 57717872 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170776.4 +1 validated p.D304Y 1.000 135 0% 117 29.9% 0 - probably_damaging(0.981) tolerated(0.14) deleterious(0.675) HMMPfam_7tm_2 CCDC135 84229 genome.wustl.edu 37 16 57738798 57738798 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032269.5 +1 validated p.K237T 0.000 98 0% 115 29.6% 0 - benign(0.071) tolerated(0.19) neutral(0.054) NULL CNGB1 1258 genome.wustl.edu 37 16 57954409 57954409 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001297.4 -1 reviewed p.S561 0.962 72 0% 49 32.7% 0 - - - - superfamily_Voltage-gated potassium channels PRSS54 221191 genome.wustl.edu 37 16 58318587 58318587 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080492.1 -1 provisional p.I187 0.948 142 0% 112 28.6% 0 - - - - HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys PRSS54 221191 genome.wustl.edu 37 16 58325012 58325012 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080492.1 -1 provisional p.F38L 0.001 38 0% 31 29% 0 - benign(0.003) tolerated(0.6) neutral(0.004) superfamily_Pept_Ser_Cys SLC38A7 55238 genome.wustl.edu 37 16 58705075 58705075 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018231.1 -1 provisional p.R369W 1.000 35 0% 48 33.3% 18 27.7% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Aa_trans SLC38A7 55238 genome.wustl.edu 37 16 58706134 58706134 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018231.1 -1 provisional p.F299 1.000 40 0% 45 17.8% 17 41.1% - - - HMMPfam_Aa_trans CDH8 1006 genome.wustl.edu 37 16 61687749 61687749 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001796.2 -1 reviewed p.V721 0.391 114 0% 76 27.6% 0 - - - - HMMPfam_Cadherin_C CDH8 1006 genome.wustl.edu 37 16 61851614 61851614 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001796.2 -1 reviewed p.K349I 1.000 61 0% 29 17.2% 0 - possibly_damaging(0.588) deleterious(0.03) deleterious(0.568) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH5 1003 genome.wustl.edu 37 16 66430089 66430089 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001795.3 +1 reviewed p.E449* 0.999 53 0% 83 24.1% 6 16.6% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TK2 7084 genome.wustl.edu 37 16 66575806 66575806 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004614.4 -1 reviewed p.F111L 1.000 74 0% 82 28% 25 40% benign(0.009) tolerated(0.7) neutral(0.003) superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC79 283847 genome.wustl.edu 37 16 66822113 66822113 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136505.1 -1 provisional p.R120I 1.000 68 0% 69 31.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_ARM repeat CCDC79 283847 genome.wustl.edu 37 16 66824505 66824505 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136505.1 -1 provisional p.E88D 0.883 148 0% 155 38.1% 0 - probably_damaging(0.985) deleterious(0.05) deleterious(0.777) superfamily_ARM repeat CDH16 1014 genome.wustl.edu 37 16 66945874 66945874 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004062.2 -1 reviewed p.V573A 0.333 100 0% 124 31.5% 7 28.5% benign(0.007) deleterious(0) neutral(0.445) HMMPfam_Cadherin,superfamily_Cadherin-like CDH16 1014 genome.wustl.edu 37 16 66947101 66947101 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004062.2 -1 reviewed p.E329D 0.769 83 0% 94 26.6% 0 - benign(0.271) tolerated(0.06) neutral(0.352) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like RRAD 6236 genome.wustl.edu 37 16 66956020 66956020 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128850.1 -1 validated p.R296C 0.987 62 0% 93 36.6% 7 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CES2 8824 genome.wustl.edu 37 16 66975531 66975531 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003869.4 +1 reviewed p.F410 0.012 69 0% 103 34% 14 35.7% - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases CES4A 283848 genome.wustl.edu 37 16 67029640 67029640 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173815.4 +1 validated p.F56L 0.581 100 0% 154 36.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_COesterase,superfamily_SSF53474 FHOD1 29109 genome.wustl.edu 37 16 67270593 67270593 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013241.2 -1 reviewed p.G396S 0.001 33 0% 60 30% 21 38% benign(0) tolerated(0.55) neutral(0.007) NULL PLEKHG4 25894 genome.wustl.edu 37 16 67315038 67315038 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001129727.1 +1 reviewed p.R255Q 0.864 59 0% 131 28.2% 2 50% benign(0.413) deleterious(0) deleterious(0.578) NULL PLEKHG4 25894 genome.wustl.edu 37 16 67316644 67316644 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001129727.1 +1 reviewed e10-1 1.000 33 0% 73 35.6% 0 - - - - - KCTD19 146212 genome.wustl.edu 37 16 67331522 67331522 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100915.1 -1 provisional p.S344F 0.995 121 0% 157 40.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LRRC36 55282 genome.wustl.edu 37 16 67375943 67375943 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018296.5 +1 validated p.L52I 1.000 204 0% 69 27.5% 0 - possibly_damaging(0.938) tolerated(0.12) deleterious(0.644) HMMPfam_LRR_1,superfamily_L domain-like ZDHHC1 29800 genome.wustl.edu 37 16 67432159 67432159 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013304.2 -1 validated p.H295N 0.909 88 0% 178 34.3% 10 40% benign(0.026) tolerated(0.13) neutral(0.254) NULL RLTPR 146206 genome.wustl.edu 37 16 67682863 67682863 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013838.1 +1 provisional p.D526G 1.000 63 0% 136 14.7% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) superfamily_RNI-like ACD 65057 genome.wustl.edu 37 16 67694228 67694228 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001082486.1 -1 reviewed p.L52I 0.000 7 0.000 24 0.250 0 - benign(0.081) - - NULL PARD6A 50855 genome.wustl.edu 37 16 67696085 67696085 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016948.2 +1 reviewed p.I192 1.000 113 0% 163 33.1% 10 40% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like TSNAXIP1 55815 genome.wustl.edu 37 16 67857612 67857612 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018430.2 +1 validated p.E103D 0.494 101 0% 178 15.7% 2 50% possibly_damaging(0.942) tolerated(0.26) neutral(0.421) NULL EDC4 23644 genome.wustl.edu 37 16 67916201 67916201 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014329.3 +1 validated p.E1083* 1.000 121 0% 192 24% 44 15.9% - - - NULL CTRL 1506 genome.wustl.edu 37 16 67965043 67965043 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001907.1 -1 provisional p.E38 0.973 29 0% 47 34% 4 25% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SLC12A4 6560 genome.wustl.edu 37 16 67979321 67979321 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005072.4 -1 validated p.D995N 1.000 128 0% 257 32.3% 25 24% benign(0) tolerated(0.65) neutral(0.003) NULL ENSG00000252026 0 genome.wustl.edu 37 16 68318176 68318176 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000516217 -1 novel NULL 0.023 16 0% 29 24.1% 0 - - - - - SMPD3 55512 genome.wustl.edu 37 16 68405671 68405671 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018667.3 -1 validated p.L138 0.988 33 0% 84 29.8% 0 - - - - NULL ZFP90 146198 genome.wustl.edu 37 16 68597128 68597128 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133458.2 +1 provisional p.K146N 1.000 73 0% 44 34.1% 3 33.3% possibly_damaging(0.778) tolerated(0.25) neutral(0.328) NULL CDH3 1001 genome.wustl.edu 37 16 68716312 68716312 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001793.4 +1 reviewed p.I368 0.285 62 0% 68 39.7% 109 49.5% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TMCO7 79613 genome.wustl.edu 37 16 68961981 68961981 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024562.1 +1 validated p.L880F 1.000 49 0% 51 37.3% 0 - probably_damaging(0.981) deleterious(0.04) deleterious(0.774) superfamily_ARM repeat NIP7 51388 genome.wustl.edu 37 16 69375492 69375492 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016101.3 +1 validated p.A160 0.997 135 0% 221 28.5% 33 42.4% - - - HMMSmart_SM00359,superfamily_PUA domain-like TERF2 7014 genome.wustl.edu 37 16 69391429 69391429 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005652.2 -1 reviewed p.K446Q 0.953 284 0% 174 37.9% 8 37.5% benign(0.269) deleterious(0.01) neutral(0.434) HMMSmart_SM00717,superfamily_Homeodomain-like NFAT5 10725 genome.wustl.edu 37 16 69729212 69729212 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138713.2 +1 reviewed p.E1530K 0.995 115 0% 87 31% 5 40% benign(0.004) deleterious(0) neutral(0.445) NULL WWP2 11060 genome.wustl.edu 37 16 69973017 69973017 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007014.3 +1 reviewed p.E811K 1.000 112 0.9% 182 35.7% 59 33.8% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT CLEC18C 283971 genome.wustl.edu 37 16 70219856 70219856 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173619.2 +1 validated p.R427Q 0.998 295 0% 452 19.5% 7 28.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 COG4 25839 genome.wustl.edu 37 16 70548334 70548334 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015386.2 -1 validated p.L150 0.955 96 0% 91 26.4% 43 39.5% - - - NULL SF3B3 23450 genome.wustl.edu 37 16 70605009 70605009 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012426.4 +1 reviewed p.F1140L 1.000 56 0% 83 36.1% 369 48.5% possibly_damaging(0.924) tolerated(0.13) deleterious(0.625) HMMPfam_CPSF_A VAC14 55697 genome.wustl.edu 37 16 70765486 70765486 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018052.3 -1 validated p.S525A 1.000 123 0% 197 41.6% 54 48.1% possibly_damaging(0.902) tolerated(0.19) neutral(0.406) superfamily_ARM-type_fold HYDIN 54768 genome.wustl.edu 37 16 70874115 70874115 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032821.2 -1 validated p.M4298L 0.000 101 0% 49 18.4% 0 - benign(0) tolerated(0.4) neutral(0.016) NULL HYDIN 54768 genome.wustl.edu 37 16 70896041 70896041 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032821.2 -1 validated p.S3895L 0.081 123 1.6% 52 32.7% 0 - benign(0.016) tolerated(0.18) neutral(0.057) NULL HYDIN 54768 genome.wustl.edu 37 16 70972554 70972554 + Missense_Mutation SNP G G A rs138000790 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032821.2 -1 validated p.R2319W 0.000 175 0% 163 33.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases HYDIN 54768 genome.wustl.edu 37 16 70972656 70972656 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032821.2 -1 validated p.R2285C 0.000 188 0% 160 31.9% 0 - probably_damaging(0.997) deleterious(0.05) deleterious(0.811) superfamily_P-loop containing nucleoside triphosphate hydrolases HYDIN 54768 genome.wustl.edu 37 16 70977819 70977819 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032821.2 -1 validated p.H2188N 0.999 81 0% 45 26.7% 0 - benign(0.002) tolerated(0.99) - superfamily_P-loop containing nucleoside triphosphate hydrolases FTSJD1 55783 genome.wustl.edu 37 16 71318239 71318239 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099642.1 -1 validated p.G529* 1.000 52 0% 80 32.5% 3 0% - - - NULL ZNF19 7567 genome.wustl.edu 37 16 71509908 71509908 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006961.3 -1 reviewed p.R181I 0.712 190 0% 133 33.1% 3 0% probably_damaging(0.973) deleterious(0.05) deleterious(0.760) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CHST4 10164 genome.wustl.edu 37 16 71571215 71571215 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005769.2 +1 reviewed p.R212H 0.824 94 0% 63 23.8% 0 - benign(0.408) deleterious(0.03) deleterious(0.496) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 TAT 6898 genome.wustl.edu 37 16 71606222 71606222 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000353.2 -1 reviewed p.E191D 0.996 147 0% 147 27.9% 0 - benign(0) tolerated(0.3) neutral(0.029) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases MARVELD3 91862 genome.wustl.edu 37 16 71660456 71660456 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017967.2 +1 validated p.E108D 0.011 13 0% 17 35.3% 23 43.4% possibly_damaging(0.791) tolerated(0.11) deleterious(0.568) NULL PHLPP2 23035 genome.wustl.edu 37 16 71682987 71682987 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015020.2 -1 validated p.E1260* 1.000 107 0% 78 35.9% 1 0% - - - NULL AP1G1 164 genome.wustl.edu 37 16 71782173 71782173 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001030007.1 -1 reviewed p.R539* 0.903 74 0% 80 33.8% 25 12% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat AP1G1 164 genome.wustl.edu 37 16 71823246 71823246 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001030007.1 -1 reviewed p.R46Q 1.000 136 0% 85 36.5% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat PKD1L3 342372 genome.wustl.edu 37 16 71976624 71976624 + Missense_Mutation SNP T T C rs75734766 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000335106 -1 known p.N1386S 0.001 131 0% 138 34.8% 0 - - - - NULL PKD1L3 342372 genome.wustl.edu 37 16 71986823 71986823 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000335106 -1 known p.V993 0.000 72 0% 105 23.8% 0 - - - - NULL PMFBP1 83449 genome.wustl.edu 37 16 72153907 72153907 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031293.2 -1 validated p.A950 0.000 396 0% 270 31.5% 4 0% - - - NULL PMFBP1 83449 genome.wustl.edu 37 16 72159956 72159956 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031293.2 -1 validated p.L722I 0.024 112 0% 95 31.6% 0 - benign(0.001) tolerated(0.35) neutral(0.021) NULL ZFHX3 463 genome.wustl.edu 37 16 72821192 72821192 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006885.3 -1 reviewed p.S3661 1.000 51 0% 115 31.3% 33 45.4% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72827575 72827575 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006885.3 -1 reviewed p.K3002N 1.000 165 0% 243 32.5% 26 57.6% probably_damaging(1) - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ZFHX3 463 genome.wustl.edu 37 16 72828223 72828223 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006885.3 -1 reviewed p.S2786 0.969 105 0% 132 28% 38 42.1% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72828370 72828370 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006885.3 -1 reviewed p.E2737D 1.000 37 0% 59 25.4% 28 57.1% probably_damaging(0.998) - - superfamily_C2H2 and C2HC zinc fingers ZFHX3 463 genome.wustl.edu 37 16 72829282 72829282 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006885.3 -1 reviewed p.A2433 0.861 212 0% 314 38.9% 27 37% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72923722 72923722 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006885.3 -1 reviewed p.R1119Q 1.000 68 0% 45 40% 12 33.3% unknown(0) - - HMMSmart_SM00451 PSMD7 5713 genome.wustl.edu 37 16 74334950 74334950 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002811.3 +1 reviewed p.V56A 1.000 170 0% 239 31.4% 114 48.2% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Mov34,HMMSmart_JAB_MPN PSMD7 5713 genome.wustl.edu 37 16 74339547 74339547 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002811.3 +1 reviewed p.K297N 0.992 121 0% 152 28.3% 204 45.5% unknown(0) tolerated(0.34) - NULL GLG1 2734 genome.wustl.edu 37 16 74487212 74487212 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012201.5 -1 validated p.F1131L 1.000 98 0% 111 27% 251 47% probably_damaging(0.999) tolerated(0.51) deleterious(0.499) NULL RFWD3 55159 genome.wustl.edu 37 16 74666557 74666557 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018124.3 -1 validated p.M481V 1.000 124 0% 95 25.3% 14 35.7% possibly_damaging(0.783) tolerated(0.22) neutral(0.335) superfamily_WD40_like MLKL 197259 genome.wustl.edu 37 16 74719433 74719433 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152649.2 -1 validated p.F257 1.000 243 0% 217 36.9% 5 20% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) WDR59 79726 genome.wustl.edu 37 16 74990458 74990458 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030581.3 -1 validated p.R52Q 1.000 114 0% 70 32.9% 12 33.3% possibly_damaging(0.943) tolerated(0.18) neutral(0.444) HMMSmart_SM00320,superfamily_WD40 repeat-like LDHD 197257 genome.wustl.edu 37 16 75146775 75146775 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153486.2 -1 reviewed p.I401 0.797 40 0% 49 22.4% 2 50% - - - HMMPfam_FAD-oxidase_C,superfamily_FAD-linked oxidases C-terminal domain ZFP1 162239 genome.wustl.edu 37 16 75203633 75203633 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153688.2 +1 validated p.E209K 1.000 52 0% 30 43.3% 5 40% benign(0.372) deleterious(0.01) deleterious(0.524) superfamily_C2H2 and C2HC zinc fingers CNTNAP4 85445 genome.wustl.edu 37 16 76389373 76389373 + Missense_Mutation SNP A A C rs72794957 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138994.3 +1 validated p.N94H 1.000 72 0% 30 23.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like CNTNAP4 85445 genome.wustl.edu 37 16 76481996 76481996 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138994.3 +1 validated p.S184Y 1.000 155 0% 70 21.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases CNTNAP4 85445 genome.wustl.edu 37 16 76486506 76486506 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138994.3 +1 validated p.E318D 0.006 144 0% 103 38.8% 0 - benign(0.013) tolerated(0.52) neutral(0.009) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases CNTNAP4 85445 genome.wustl.edu 37 16 76528873 76528873 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138994.3 +1 validated p.S643L 0.000 167 0% 185 33% 0 - benign(0) tolerated(0.87) neutral(0.001) superfamily_Concanavalin A-like lectins/glucanases CNTNAP4 85445 genome.wustl.edu 37 16 76555148 76555148 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138994.3 +1 validated p.S753* 0.996 345 0% 174 12.1% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 NUDT7 283927 genome.wustl.edu 37 16 77759416 77759416 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105663.1 +1 reviewed p.V42I 0.007 156 0% 202 25.2% 2 50% benign(0.061) tolerated(0.18) neutral(0.060) HMMPfam_NUDIX,superfamily_NUDIX_hydrolase VAT1L 57687 genome.wustl.edu 37 16 77910270 77910270 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020927.1 +1 provisional p.I242 1.000 220 0% 120 22.5% 0 - - - - HMMPfam_ADH_zinc_N,superfamily_NAD(P)-bd WWOX 51741 genome.wustl.edu 37 16 79245589 79245589 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016373.1 +1 reviewed p.R381S 1.000 51 0% 44 36.4% 19 52.6% benign(0.014) tolerated(0.08) neutral(0.300) NULL CENPN 55839 genome.wustl.edu 37 16 81051405 81051405 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100625.1 +1 validated p.S107L 0.153 62 0% 47 25.5% 18 33.3% possibly_damaging(0.538) tolerated(0.31) neutral(0.209) HMMPfam_CHL4 PKD1L2 114780 genome.wustl.edu 37 16 81180925 81180925 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052892.3 -1 reviewed p.T1722 0.000 162 0% 170 29.4% 0 - - - - NULL PKD1L2 114780 genome.wustl.edu 37 16 81211487 81211487 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001076780.1 -1 reviewed p.L788M 0.984 36 0% 33 39.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PLCG2 5336 genome.wustl.edu 37 16 81888069 81888069 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002661.2 +1 validated p.E72* 1.000 104 0% 43 32.6% 6 0% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PLCG2 5336 genome.wustl.edu 37 16 81968060 81968060 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002661.2 +1 validated p.K922N 1.000 63 1.6% 39 30.8% 9 0% possibly_damaging(0.743) deleterious(0) deleterious(0.717) superfamily_PLC-like_Pdiesterase_TIM-brl PLCG2 5336 genome.wustl.edu 37 16 81971448 81971448 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002661.2 +1 validated p.E1046D 0.925 82 0% 55 27.3% 20 10% benign(0) tolerated(1) - superfamily_PLC-like_Pdiesterase_TIM-brl SDR42E1 93517 genome.wustl.edu 37 16 82034450 82034450 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145168.2 -1 validated p.R5I 0.000 136 0% 102 25.5% 0 - benign(0.156) deleterious(0.03) neutral(0.379) NULL CDH13 1012 genome.wustl.edu 37 16 83251040 83251040 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001257.3 +1 reviewed p.E192* 1.000 91 0% 40 27.5% 2 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin MLYCD 23417 genome.wustl.edu 37 16 83941822 83941822 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012213.2 +1 reviewed p.T245A 0.762 47 0% 81 18.5% 14 35.7% benign(0.009) tolerated(0.09) neutral(0.297) HMMPfam_MCD SLC38A8 146167 genome.wustl.edu 37 16 84046626 84046626 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080442.1 -1 provisional p.E398D 0.894 76 0% 111 30.6% 3 66.6% possibly_damaging(0.946) tolerated(0.35) neutral(0.411) NULL DNAAF1 123872 genome.wustl.edu 37 16 84208315 84208315 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178452.4 +1 reviewed p.S562Y 0.003 80 0% 164 37.2% 1 0% possibly_damaging(0.855) deleterious(0) deleterious(0.774) NULL CRISPLD2 83716 genome.wustl.edu 37 16 84922933 84922933 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031476.3 +1 validated p.Y468C 1.000 73 0% 66 25.8% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain MTHFSD 64779 genome.wustl.edu 37 16 86575809 86575809 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022764.2 -1 validated p.I150 0.989 52 0% 71 9.9% 11 9% - - - HMMPfam_5-FTHF_cyc-lig,superfamily_SSF100950 CA5A 763 genome.wustl.edu 37 16 87969977 87969977 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001739.1 -1 reviewed p.S27L 0.000 76 0% 97 34% 0 - benign(0) tolerated(0.42) neutral(0.014) NULL ZNF469 84627 genome.wustl.edu 37 16 88497685 88497685 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127464.1 +1 reviewed p.P1241 0.001 23 0% 41 31.7% 1 0% - - - NULL ZNF469 84627 genome.wustl.edu 37 16 88499959 88499959 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127464.1 +1 reviewed p.T1999 0.000 32 0% 46 41.3% 0 - - - - NULL TRAPPC2L 51693 genome.wustl.edu 37 16 88925126 88925126 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016209.3 +1 validated p.A45T 0.902 49 0% 83 28.9% 164 45.1% benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Sedlin_N,superfamily_SNARE-like ACSF3 197322 genome.wustl.edu 37 16 89167300 89167300 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127214.1 +1 validated p.L71F 0.996 37 0% 56 32.1% 17 23.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_AMP-binding,superfamily_SSF56801 CDH15 1013 genome.wustl.edu 37 16 89261272 89261272 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004933.2 +1 reviewed p.G718 0.024 32 0% 56 28.6% 0 - - - - HMMPfam_Cadherin_C ZNF778 197320 genome.wustl.edu 37 16 89293933 89293933 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182531.2 +1 validated p.R385* 0.654 141 0% 203 37.4% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANKRD11 29123 genome.wustl.edu 37 16 89351132 89351132 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013275.4 -1 validated p.E606D 0.993 49 0% 59 27.1% 11 36.3% benign(0.047) tolerated(0.48) neutral(0.014) superfamily_Ankyrin repeat RPL13 6137 genome.wustl.edu 37 16 89628029 89628029 + Missense_Mutation SNP C C A rs35249649 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000977.2 +1 reviewed p.S97Y 1.000 36 0% 67 35.8% 5221 42.6% possibly_damaging(0.515) deleterious(0) deleterious(0.618) HMMPfam_Ribosomal_L13e SPATA2L 124044 genome.wustl.edu 37 16 89763903 89763903 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152339.2 -1 provisional p.D372N 0.987 11 0% 21 57.1% 29 48.2% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) NULL FANCA 2175 genome.wustl.edu 37 16 89818605 89818605 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000135.2 -1 reviewed p.N1003H 0.066 65 0% 126 32.5% 27 33.3% probably_damaging(0.99) tolerated(0.08) deleterious(0.742) NULL FANCA 2175 genome.wustl.edu 37 16 89824989 89824989 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000135.2 -1 reviewed p.Q993* 0.985 85 0% 208 30.8% 18 44.4% - - - NULL FANCA 2175 genome.wustl.edu 37 16 89857839 89857839 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000135.2 -1 reviewed p.A444V 0.001 35 0% 51 51% 29 68.9% benign(0) tolerated(1) - NULL DEF8 54849 genome.wustl.edu 37 16 90015973 90015973 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207514.1 +1 validated p.V34I 0.000 18 0% 40 25% 4 75% benign(0.126) - - NULL VPS53 55275 genome.wustl.edu 37 17 526830 526830 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128159.1 -1 reviewed p.N353K 1.000 98 0% 141 27.7% 5 0% possibly_damaging(0.879) tolerated(0.37) neutral(0.362) HMMPfam_Vps53_N GEMIN4 50628 genome.wustl.edu 37 17 650908 650908 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015721.2 -1 reviewed p.F125L 0.999 154 0% 211 25.6% 21 38% possibly_damaging(0.775) deleterious(0.02) deleterious(0.671) NULL ABR 29 genome.wustl.edu 37 17 915093 915093 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021962.2 -1 reviewed p.F698 0.964 102 0% 197 31.5% 63 14.2% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP WDR81 124997 genome.wustl.edu 37 17 1630816 1630816 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000409644 +1 known p.L855M 0.994 11 0% 26 30.8% 14 21.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_WD40 repeat-like RPA1 6117 genome.wustl.edu 37 17 1791985 1791985 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002945.3 +1 validated p.S464Y 1.000 57 0% 69 21.7% 151 41% benign(0.233) deleterious(0.01) neutral(0.429) HMMPfam_Rep_fac-A_C,superfamily_Nucleic acid-binding proteins OVCA2 124641 genome.wustl.edu 37 17 1946373 1946373 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080822.2 +1 validated p.K220T 1.000 68 0% 104 38.5% 180 45% benign(0.26) tolerated(0.31) neutral(0.054) HMMPfam_FSH1,superfamily_SSF53474 OR1A2 26189 genome.wustl.edu 37 17 3100833 3100833 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012352.1 +1 provisional p.S7 0.011 145 0% 62 25.8% 0 - - - - superfamily_SSF81321 OR1A2 26189 genome.wustl.edu 37 17 3101472 3101472 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012352.1 +1 provisional p.V220 0.984 99 0% 68 26.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SPATA22 84690 genome.wustl.edu 37 17 3346480 3346480 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032598.4 -1 validated p.V296 0.940 88 0% 70 37.1% 0 - - - - NULL SPATA22 84690 genome.wustl.edu 37 17 3349810 3349810 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032598.4 -1 validated p.W253L 1.000 175 0% 95 31.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TRPV3 162514 genome.wustl.edu 37 17 3458101 3458101 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145068.2 -1 reviewed p.R15I 0.243 85 0% 93 28% 1 0% possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL TRPV1 7442 genome.wustl.edu 37 17 3493236 3493236 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018727.5 -1 reviewed p.T303 0.973 69 0% 123 36.6% 5 60% - - - superfamily_Ankyrin repeat SHPK 23729 genome.wustl.edu 37 17 3527444 3527444 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013276.2 -1 reviewed p.R131Q 1.000 36 0% 54 40.7% 29 44.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FGGY_N,superfamily_Actin-like ATPase domain ITGAE 3682 genome.wustl.edu 37 17 3654948 3654948 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002208.4 -1 reviewed p.S630L 0.945 63 0% 136 25.7% 6 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_Int_alpha,superfamily_SSF69318 CAMKK1 84254 genome.wustl.edu 37 17 3773124 3773124 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172207.2 -1 reviewed p.E433K 0.939 227 0% 342 21.6% 1 0% benign(0.018) tolerated(0.43) neutral(0.014) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ZZEF1 23140 genome.wustl.edu 37 17 3989047 3989047 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015113.3 -1 validated p.E855* 1.000 107 0% 65 23.1% 5 0% - - - NULL SPNS2 124976 genome.wustl.edu 37 17 4436347 4436347 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001124758.1 +1 provisional p.P337 0.017 15 0% 40 30% 2 50% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter PELP1 27043 genome.wustl.edu 37 17 4578385 4578385 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014389.2 -1 validated p.E421D 1.000 39 0% 51 35.3% 85 50.5% possibly_damaging(0.857) tolerated(0.11) deleterious(0.603) NULL PELP1 27043 genome.wustl.edu 37 17 4578897 4578897 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000301396 -1 known p.S421 0.000 25 0% 19 47.4% 1 100% - - - NULL ZMYND15 84225 genome.wustl.edu 37 17 4645753 4645753 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136046.1 +1 provisional p.E371* 1.000 106 0.9% 170 27.6% 0 - - - - NULL TM4SF5 9032 genome.wustl.edu 37 17 4685827 4685827 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003963.2 +1 reviewed p.F96 0.009 77 0% 128 33.6% 0 - - - - HMMPfam_L6_membrane PLD2 5338 genome.wustl.edu 37 17 4722488 4722488 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002663.3 +1 validated p.I761 0.995 70 0% 120 32.5% 36 50% - - - HMMPfam_PLDc,HMMSmart_SM00155,superfamily_Phospholipase D/nuclease CAMTA2 23125 genome.wustl.edu 37 17 4883297 4883297 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015099.3 -1 validated p.N440K 0.985 14 0% 20 25% 11 36.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL KIF1C 10749 genome.wustl.edu 37 17 4925727 4925727 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006612.5 +1 validated p.R784H 1.000 88 0% 122 38.5% 100 41% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ZFP3 124961 genome.wustl.edu 37 17 4995476 4995476 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153018.2 +1 validated p.K226T 0.005 130 0% 202 29.2% 2 100% possibly_damaging(0.799) tolerated(0.16) neutral(0.360) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP3 124961 genome.wustl.edu 37 17 4995869 4995869 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153018.2 +1 validated p.R357I 0.489 69 0% 119 33.6% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers USP6 9098 genome.wustl.edu 37 17 5041514 5041514 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004505.2 +1 validated p.L342I 1.000 80 0% 119 32.8% 0 - unknown(0) deleterious(0) - superfamily_Ypt/Rab-GAP domain of gyp1p USP6 9098 genome.wustl.edu 37 17 5044782 5044782 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004505.2 +1 validated p.D521Y 1.000 229 0% 325 24.9% 0 - benign(0.258) deleterious(0.04) neutral(0.376) NULL USP6 9098 genome.wustl.edu 37 17 5048042 5048042 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004505.2 +1 validated p.E626* 1.000 208 0% 392 32.1% 0 - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP6 9098 genome.wustl.edu 37 17 5048728 5048728 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004505.2 +1 validated p.R674I 1.000 274 0% 370 31.4% 0 - probably_damaging(0.976) deleterious(0.04) deleterious(0.767) HMMPfam_UCH,superfamily_Cysteine proteinases USP6 9098 genome.wustl.edu 37 17 5058809 5058809 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004505.2 +1 validated p.R912 1.000 177 0% 129 33.3% 0 - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP6 9098 genome.wustl.edu 37 17 5073773 5073773 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004505.2 +1 validated e27-1 1.000 65 0% 52 30.8% 0 - - - - - USP6 9098 genome.wustl.edu 37 17 5073840 5073840 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004505.2 +1 validated p.S1195I 1.000 93 0% 73 17.8% 7 0% probably_damaging(0.983) tolerated(0.07) deleterious(0.748) HMMPfam_UCH,superfamily_Cysteine proteinases ZNF594 84622 genome.wustl.edu 37 17 5084871 5084871 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000381752 -1 known p.H106N 0.997 162 0% 218 31.7% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,superfamily_SSF57667 ZNF594 84622 genome.wustl.edu 37 17 5085366 5085366 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032530.1 -1 validated p.L729R 0.815 243 0% 324 31.2% 10 30% possibly_damaging(0.718) tolerated(0.06) deleterious(0.583) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF594 84622 genome.wustl.edu 37 17 5086691 5086691 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032530.1 -1 validated p.R287 0.984 114 0% 160 35.6% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF594 84622 genome.wustl.edu 37 17 5086692 5086692 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032530.1 -1 validated p.R287I 0.985 114 0% 159 35.8% 3 33.3% probably_damaging(0.984) deleterious(0.04) deleterious(0.779) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RABEP1 9135 genome.wustl.edu 37 17 5250091 5250091 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004703.4 +1 validated p.E219* 1.000 105 0% 71 28.2% 7 14.2% - - - NULL RABEP1 9135 genome.wustl.edu 37 17 5264818 5264818 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004703.4 +1 validated p.D471Y 1.000 85 0% 87 33.3% 16 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rabaptin RPAIN 84268 genome.wustl.edu 37 17 5331597 5331597 + Nonstop_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000405578 +1 known p.*232C 0.000 109 0% 133 30.1% 7 28.5% - - - NULL C1QBP 708 genome.wustl.edu 37 17 5336703 5336703 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001212.3 -1 reviewed p.I203 1.000 90 0% 117 21.4% 406 38.9% - - - HMMPfam_MAM33,superfamily_MAM33 NLRP1 22861 genome.wustl.edu 37 17 5462129 5462129 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033004.3 -1 reviewed p.F629L 1.000 96 0% 80 28.7% 9 11.1% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL FAM64A 54478 genome.wustl.edu 37 17 6350784 6350784 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019013.1 +1 provisional p.R99K 0.997 41 0% 69 29% 18 44.4% possibly_damaging(0.942) tolerated(0.49) neutral(0.398) HMMPfam_DUF1466 PITPNM3 83394 genome.wustl.edu 37 17 6381945 6381945 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031220.3 -1 reviewed p.V233 0.201 85 0% 117 28.2% 9 44.4% - - - NULL ALOX12 239 genome.wustl.edu 37 17 6913663 6913663 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000697.2 +1 validated p.I638S 0.845 77 0% 156 34% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase BCL6B 255877 genome.wustl.edu 37 17 6927918 6927918 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181844.3 +1 validated p.I200 0.992 50 0% 104 33.7% 2 0% - - - NULL CLEC10A 10462 genome.wustl.edu 37 17 6982070 6982070 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182906.2 -1 reviewed p.K21T 0.006 169 0% 175 26.3% 3 0% benign(0) tolerated(0.36) neutral(0.020) HMMPfam_Lectin_N DLG4 1742 genome.wustl.edu 37 17 7106569 7106569 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001365.3 -1 reviewed p.I238 0.905 174 0% 314 37.3% 3 33.3% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ DLG4 1742 genome.wustl.edu 37 17 7107541 7107541 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001365.3 -1 reviewed p.D86Y 1.000 218 0% 360 37.2% 2 0% probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_MAGUK_N_PEST CTDNEP1 23399 genome.wustl.edu 37 17 7149424 7149424 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143775.1 -1 validated p.K170N 1.000 55 0% 112 29.5% 306 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NIF,HMMSmart_SM00577,superfamily_HAD-like YBX2 51087 genome.wustl.edu 37 17 7194415 7194415 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015982.3 -1 validated p.E152D 1.000 290 0% 583 14.2% 2 0% benign(0.183) tolerated(0.08) neutral(0.317) HMMPfam_CSD,HMMSmart_CSP,superfamily_Nucleic_acid_OB EIF5A 1984 genome.wustl.edu 37 17 7212941 7212941 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143760.1 +1 validated p.S26L 1.000 156 0% 314 32.5% 965 42.3% benign(0.429) deleterious(0) deleterious(0.584) NULL EIF5A 1984 genome.wustl.edu 37 17 7214392 7214392 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143760.1 +1 validated p.P104L 1.000 204 0% 403 33% 381 42.5% probably_damaging(0.97) deleterious(0) deleterious(0.857) superfamily_Transl_SH3_like ACAP1 9744 genome.wustl.edu 37 17 7247264 7247264 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014716.3 +1 validated p.L220 0.999 100 0% 122 35.2% 17 0% - - - NULL SPEM1 374768 genome.wustl.edu 37 17 7324450 7324450 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199339.2 +1 provisional p.E152D 0.000 70 0% 100 40% 1 100% possibly_damaging(0.568) tolerated(0.21) neutral(0.238) NULL SPEM1 374768 genome.wustl.edu 37 17 7324552 7324552 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199339.2 +1 provisional p.E186D 0.003 72 0% 114 30.7% 0 - benign(0.014) deleterious(0) neutral(0.445) NULL POLR2A 5430 genome.wustl.edu 37 17 7401404 7401404 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000937.3 +1 validated p.E404* 1.000 90 0% 97 26.8% 69 14.4% - - - HMMPfam_RNA_pol_Rpb1_2,superfamily_SSF64484 SHBG 6462 genome.wustl.edu 37 17 7535297 7535297 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040.3 +1 reviewed p.E272D 0.010 79 0% 103 34% 0 - possibly_damaging(0.81) tolerated(0.09) deleterious(0.601) superfamily_Concanavalin A-like lectins/glucanases SHBG 6462 genome.wustl.edu 37 17 7536639 7536639 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040.3 +1 reviewed p.S393I 0.002 122 0% 179 24% 1 100% benign(0.053) deleterious(0.01) neutral(0.409) NULL TP53 7157 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000546.4 -1 reviewed p.R213* 0.893 190 0% 269 28.6% 58 8.6% - - - superfamily_p53-like transcription factors,HMMPfam_P53 EFNB3 1949 genome.wustl.edu 37 17 7612879 7612879 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001406.3 +1 reviewed p.I336 1.000 21 0% 35 28.6% 2 50% - - - NULL DNAH2 146754 genome.wustl.edu 37 17 7678148 7678148 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020877.2 +1 validated p.E1525* 1.000 145 0% 164 25.6% 0 - - - - HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7689912 7689912 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020877.2 +1 validated p.L2125V 0.013 117 0% 120 20% 0 - benign(0.015) tolerated(0.13) neutral(0.253) HMMPfam_AAA_5 DNAH2 146754 genome.wustl.edu 37 17 7696394 7696394 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020877.2 +1 validated p.T2480 0.965 87 0% 100 32% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases CHD3 1107 genome.wustl.edu 37 17 7800406 7800406 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005271.2 +1 reviewed p.E630D 1.000 50 0% 68 14.7% 79 18.9% benign(0.271) - - HMMSmart_SM00298,superfamily_Chromo domain-like CHD3 1107 genome.wustl.edu 37 17 7803987 7803987 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005271.2 +1 reviewed p.V1031 1.000 73 0% 100 33% 121 36.3% - - - HMMPfam_SNF2_N KCNAB3 9196 genome.wustl.edu 37 17 7828495 7828495 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004732.2 -1 reviewed p.R182Q 0.999 78 0% 112 24.1% 2 0% benign(0.001) tolerated(0.3) neutral(0.029) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red TRAPPC1 58485 genome.wustl.edu 37 17 7835076 7835076 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021210.4 -1 reviewed p.K24N 1.000 86 0% 175 25.7% 339 33% benign(0.006) tolerated(0.48) neutral(0.011) HMMPfam_Sybindin,superfamily_SNARE-like ALOXE3 59344 genome.wustl.edu 37 17 8007504 8007504 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021628.2 -1 reviewed p.E572* 1.000 109 0% 130 31.5% 0 - - - - HMMPfam_Lipoxygenase,superfamily_Lipoxygenase CTC1 80169 genome.wustl.edu 37 17 8135530 8135530 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025099.5 -1 validated p.F692L 0.769 70 0% 68 30.9% 9 44.4% probably_damaging(0.995) tolerated(0.4) deleterious(0.474) NULL CTC1 80169 genome.wustl.edu 37 17 8141386 8141386 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025099.5 -1 validated p.L204I 0.926 43 0% 46 17.4% 8 25% benign(0.085) tolerated(0.34) neutral(0.029) NULL MYH10 4628 genome.wustl.edu 37 17 8383806 8383806 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005964.1 -1 validated p.R1737W 0.998 57 0% 119 31.9% 106 39.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH10 4628 genome.wustl.edu 37 17 8492406 8492406 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005964.1 -1 validated p.L175I 1.000 188 0% 228 32.9% 18 38.8% benign(0.045) deleterious(0) neutral(0.447) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases SPDYE4 388333 genome.wustl.edu 37 17 8656753 8656753 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128076.1 -1 provisional p.F180L 0.005 117 0% 119 24.4% 0 - benign(0.009) tolerated(0.06) neutral(0.323) NULL STX8 9482 genome.wustl.edu 37 17 9281920 9281920 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004853.2 -1 reviewed p.R198C 0.968 192 0% 104 26.9% 76 43.4% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_SNARE,HMMSmart_SM00397 GLP2R 9340 genome.wustl.edu 37 17 9763289 9763289 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004246.1 +1 reviewed p.L266I 0.640 150 0% 105 31.4% 0 - possibly_damaging(0.818) tolerated(0.16) neutral(0.368) HMMPfam_7tm_2 RCVRN 5957 genome.wustl.edu 37 17 9801504 9801504 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002903.2 -1 reviewed p.E171* 1.000 301 0% 383 30.8% 0 - - - - HMMSmart_SM00054,superfamily_EF-hand MYH13 8735 genome.wustl.edu 37 17 10219315 10219315 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003802.2 -1 validated p.V1256I 0.883 193 0% 194 28.4% 0 - benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH13 8735 genome.wustl.edu 37 17 10223705 10223705 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003802.2 -1 validated p.E1074* 1.000 204 0% 187 26.2% 0 - - - - HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH8 4626 genome.wustl.edu 37 17 10298591 10298591 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002472.2 -1 reviewed p.E1607D 1.000 329 0% 282 30.1% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Myosin_tail_1 MYH8 4626 genome.wustl.edu 37 17 10307808 10307808 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002472.2 -1 reviewed p.L843I 1.000 285 0% 173 20.8% 0 - possibly_damaging(0.903) tolerated(0.09) deleterious(0.654) NULL MYH4 4622 genome.wustl.edu 37 17 10356223 10356223 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017533.2 -1 validated p.K1046N 1.000 456 0% 239 29.7% 0 - possibly_damaging(0.886) deleterious(0.02) deleterious(0.730) NULL MYH4 4622 genome.wustl.edu 37 17 10360790 10360790 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017533.2 -1 validated p.S615Y 1.000 221 0% 124 10.5% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10400440 10400440 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005963.3 -1 reviewed p.K1534N 1.000 402 0% 439 31.7% 0 - unknown(0) deleterious(0.03) - HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10400756 10400756 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005963.3 -1 reviewed p.W1460L 1.000 184 0% 185 27.6% 0 - unknown(0) deleterious(0.01) - HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10408721 10408721 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005963.3 -1 reviewed p.K761T 1.000 181 0% 71 29.6% 0 - possibly_damaging(0.808) deleterious(0.01) deleterious(0.710) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10411680 10411680 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005963.3 -1 reviewed p.E633K 1.000 145 0% 45 37.8% 0 - benign(0.017) tolerated(0.66) neutral(0.003) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10417437 10417437 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005963.3 -1 reviewed p.E180* 1.000 162 0% 80 37.5% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10419573 10419573 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005963.3 -1 reviewed p.L97 0.999 452 0% 172 26.7% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH2 4620 genome.wustl.edu 37 17 10426478 10426478 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100112.1 -1 reviewed p.L1868I 0.985 170 0% 92 27.2% 0 - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10426663 10426663 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100112.1 -1 reviewed p.R1847C 1.000 229 0% 142 33.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10432765 10432765 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100112.1 -1 reviewed p.R1051C 1.000 344 0.3% 202 33.2% 0 - benign(0.02) deleterious(0) neutral(0.446) NULL MYH3 4621 genome.wustl.edu 37 17 10537012 10537012 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002470.2 -1 reviewed p.E1515* 1.000 286 0% 264 31.1% 3 100% - - - HMMPfam_Myosin_tail_1 SCO1 6341 genome.wustl.edu 37 17 10595213 10595213 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004589.2 -1 reviewed p.E211* 1.000 175 0% 250 34.8% 32 6.2% - - - HMMPfam_SCO1-SenC,superfamily_Thiordxn-like_fd C17orf48 56985 genome.wustl.edu 37 17 10608642 10608642 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020233.4 +1 validated p.D133E 0.624 121 0% 126 31% 7 42.8% possibly_damaging(0.85) tolerated(0.12) deleterious(0.588) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases PIRT 644139 genome.wustl.edu 37 17 10728935 10728935 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101387.1 -1 validated p.L10I 0.926 52 0% 52 36.5% 0 - benign(0.011) deleterious(0) neutral(0.445) NULL DNAH9 1770 genome.wustl.edu 37 17 11535919 11535919 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001372.3 +1 reviewed p.V512I 0.003 153 0% 81 37% 0 - benign(0.076) tolerated(0.13) neutral(0.258) HMMPfam_DHC_N1 DNAH9 1770 genome.wustl.edu 37 17 11543606 11543606 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001372.3 +1 reviewed p.K602N 1.000 61 0% 41 34.1% 0 - benign(0.191) tolerated(0.37) neutral(0.037) HMMPfam_DHC_N1 DNAH9 1770 genome.wustl.edu 37 17 11556119 11556119 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001372.3 +1 reviewed p.D799Y 1.000 77 0% 95 34.7% 0 - benign(0.366) tolerated(0.13) neutral(0.369) NULL DNAH9 1770 genome.wustl.edu 37 17 11572944 11572944 + Silent SNP C C T rs184072165 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001372.3 +1 reviewed p.I1062 0.051 121 0% 95 36.8% 0 - - - - superfamily_Spectrin repeat DNAH9 1770 genome.wustl.edu 37 17 11631149 11631149 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001372.3 +1 reviewed p.I1908 1.000 296 0% 222 32.4% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11660942 11660942 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001372.3 +1 reviewed p.E2310* 1.000 119 0% 107 24.3% 0 - - - - NULL DNAH9 1770 genome.wustl.edu 37 17 11700944 11700944 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001372.3 +1 reviewed p.S2752R 0.029 123 0% 76 30.3% 0 - benign(0.053) tolerated(0.58) neutral(0.009) superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF18 7566 genome.wustl.edu 37 17 11882036 11882036 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144680.2 -1 provisional p.E296D 0.987 14 0% 13 30.8% 16 50% possibly_damaging(0.893) deleterious(0) deleterious(0.796) NULL MYOCD 93649 genome.wustl.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153604.2 +1 reviewed p.Q307in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL LOC100128006 100128006 genome.wustl.edu 37 17 12664057 12664057 + RNA SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_078523.1 -1 model NULL 0.000 109 0% 58 25.9% 0 - - - - - ARHGAP44 9912 genome.wustl.edu 37 17 12859240 12859240 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014859.4 +1 validated p.T398I 1.000 152 0% 164 27.4% 13 84.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ELAC2 60528 genome.wustl.edu 37 17 12896331 12896331 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018127.6 -1 reviewed p.K762T 0.998 45 0% 79 20.3% 163 11.6% probably_damaging(0.957) tolerated(0.09) deleterious(0.697) NULL ZNF286A 57335 genome.wustl.edu 37 17 15619733 15619733 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130842.1 +1 validated p.K232T 0.052 139 0% 91 23.1% 4 50% benign(0) tolerated(0.17) neutral(0.059) superfamily_SSF57667 NCOR1 9611 genome.wustl.edu 37 17 15974839 15974839 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006311.2 -1 reviewed p.E1346* 1.000 262 0% 129 34.1% 1 0% - - - NULL NCOR1 9611 genome.wustl.edu 37 17 16001704 16001704 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006311.2 -1 reviewed p.R933* 1.000 128 0% 236 30.5% 15 26.6% - - - NULL NCOR1 9611 genome.wustl.edu 37 17 16097850 16097850 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006311.2 -1 reviewed p.A12T 1.000 343 0% 291 22% 8 50% benign(0.002) deleterious(0) neutral(0.445) NULL ZNF287 57336 genome.wustl.edu 37 17 16455789 16455789 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020653.2 -1 validated p.R556K 1.000 162 0% 123 35.8% 1 0% probably_damaging(0.976) tolerated(0.1) deleterious(0.704) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCDC144A 9720 genome.wustl.edu 37 17 16608617 16608617 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014695.1 +1 provisional p.E190* 0.011 264 0% 209 16.3% 0 - - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16612557 16612557 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014695.1 +1 provisional p.L396V 0.086 264 0% 133 27.8% 0 - possibly_damaging(0.69) deleterious(0) deleterious(0.692) NULL CCDC144A 9720 genome.wustl.edu 37 17 16638715 16638715 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014695.1 +1 provisional p.Q1044* 0.998 69 0% 77 33.8% 0 - - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16664997 16664997 + Missense_Mutation SNP G G A rs11533759 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014695.1 +1 provisional p.E1211K 0.005 186 0% 123 15.4% 0 - benign(0) tolerated(0.48) neutral(0.011) NULL KRT17P1 147228 genome.wustl.edu 37 17 16744252 16744252 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000399211 -1 known p.K428R 0.995 16 0% 30 26.7% 0 - benign(0.008) tolerated(0.1) neutral(0.286) NULL MPRIP 23164 genome.wustl.edu 37 17 17046898 17046899 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015134.2 +1 validated p.L356fs 1.000:0.916 - - - - - - - - - NULL MPRIP 23164 genome.wustl.edu 37 17 17053464 17053464 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015134.2 +1 validated p.D428N 1.000 58 0% 87 31% 65 49.2% probably_damaging(0.957) tolerated(0.12) deleterious(0.661) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 TOM1L2 146691 genome.wustl.edu 37 17 17764809 17764809 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001082968.1 -1 validated p.R420Q 1.000 113 0% 101 36.6% 12 33.3% probably_damaging(0.997) tolerated(0.16) deleterious(0.526) NULL LRRC48 83450 genome.wustl.edu 37 17 17909551 17909551 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130090.1 +1 validated p.E396K 0.994 131 0% 268 34% 7 28.5% possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) NULL MYO15A 51168 genome.wustl.edu 37 17 18063017 18063017 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000359910 +1 known p.R31S 0.000 68 0% 154 33.8% 0 - - - - HMMSmart_SM00139 MYO15A 51168 genome.wustl.edu 37 17 18064644 18064644 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016239.3 +1 reviewed p.R3134* 0.997 61 0% 89 22.5% 0 - - - - HMMPfam_MyTH4,HMMSmart_SM00139 FLII 2314 genome.wustl.edu 37 17 18151272 18151272 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002018.2 -1 reviewed p.K756E 1.000 78 0% 122 23.8% 156 30.1% benign(0.009) tolerated(0.48) neutral(0.011) HMMSmart_GEL,HMMPfam_Gelsolin,superfamily_SSF55753 SMCR8 140775 genome.wustl.edu 37 17 18219626 18219626 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144775.2 +1 validated p.E175K 0.976 50 0% 89 33.7% 3 33.3% benign(0.242) tolerated(0.24) neutral(0.062) NULL SMCR8 140775 genome.wustl.edu 37 17 18219704 18219704 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144775.2 +1 validated p.D201Y 1.000 56 0% 86 29.1% 5 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SMCR8 140775 genome.wustl.edu 37 17 18225984 18225984 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144775.2 +1 validated p.R805H 1.000 78 0% 83 43.4% 18 27.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL EVPLL 645027 genome.wustl.edu 37 17 18284767 18284767 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145127.1 +1 validated p.K50N 1.000 49 0% 93 31.2% 0 - probably_damaging(0.988) tolerated(0.21) deleterious(0.481) superfamily_Spectrin LOC645139 645139 genome.wustl.edu 37 17 18554301 18554301 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_928169.3 +1 model p.L305I 1.000 299 0% 451 33% 63 0% - - - HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat ZNF286B 729288 genome.wustl.edu 37 17 18565527 18565527 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145045.1 -1 validated p.R431I 1.000 209 0% 203 32% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF286B 729288 genome.wustl.edu 37 17 18566506 18566506 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145045.1 -1 validated p.N105H 0.780 157 0% 105 26.7% 1 100% - - - NULL FBXW10 10517 genome.wustl.edu 37 17 18673292 18673292 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031456.3 +1 validated p.D634Y 1.000 177 0% 166 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MAPK7 5598 genome.wustl.edu 37 17 19285243 19285243 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002749.3 +1 reviewed p.R543W 0.999 34 2.9% 81 32.1% 22 45.4% unknown(0) deleterious(0.03) - NULL RNF112 7732 genome.wustl.edu 37 17 19317411 19317411 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007148.4 +1 reviewed p.L277I 0.998 101 0% 187 10.2% 1 0% - - - HMMPfam_GBP,superfamily_SSF52540 ALDH3A1 218 genome.wustl.edu 37 17 19644502 19644502 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000691.4 -1 reviewed p.F237L 0.994 98 0% 133 15% 7 14.2% probably_damaging(0.995) tolerated(0.25) deleterious(0.494) HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_CYS,superfamily_ALDH-like SPECC1 92521 genome.wustl.edu 37 17 20107938 20107938 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033553.1 +1 validated p.K192N 1.000 84 0% 53 30.2% 29 37.9% possibly_damaging(0.895) deleterious(0.04) deleterious(0.702) NULL SPECC1 92521 genome.wustl.edu 37 17 20109052 20109052 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033553.1 +1 validated p.K564Q 0.998 65 0% 63 33.3% 49 48.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CCDC144C 348254 genome.wustl.edu 37 17 20269128 20269128 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000425519 +1 known p.R863* 0.997 73 0% 50 34% 3 100% - - - NULL DHRS7B 25979 genome.wustl.edu 37 17 21081587 21081587 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015510.3 +1 validated p.L81I 1.000 107 0% 121 27.3% 46 63% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_adh_short,superfamily_NAD(P)-bd TMEM11 8834 genome.wustl.edu 37 17 21101654 21101654 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003876.2 -1 validated p.E188K 1.000 109 0% 151 35.1% 84 29.7% benign(0.002) tolerated(0.37) neutral(0.019) NULL C17orf51 339263 genome.wustl.edu 37 17 21438714 21438714 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001113434.3 -1 validated p.I171 0.001 156 0% 88 33% 1 100% - - - NULL KIAA0100 9703 genome.wustl.edu 37 17 26961962 26961962 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014680.2 -1 validated p.F881L 1.000 136 0% 118 29.7% 25 36% probably_damaging(0.971) tolerated(1) neutral(0.413) NULL MYO18A 399687 genome.wustl.edu 37 17 27425883 27425883 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_078471.3 -1 validated p.I1247 0.105 248 0% 345 31.9% 14 35.7% - - - NULL GIT1 28964 genome.wustl.edu 37 17 27908956 27908956 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001085454.1 -1 validated p.I204 0.934 30 0% 53 17% 60 43.3% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK GIT1 28964 genome.wustl.edu 37 17 27909727 27909727 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001085454.1 -1 validated p.D132Y 1.000 80 0% 124 25.8% 50 36% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_ANK,superfamily_ANK SSH2 85464 genome.wustl.edu 37 17 27958422 27958422 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033389.2 -1 reviewed p.E1237* 1.000 117 0% 96 11.5% 8 12.5% - - - NULL EFCAB5 374786 genome.wustl.edu 37 17 28400722 28400722 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026738.1 +1 validated NULL 0.001 87 0% 79 25.3% 0 - - - - - EFCAB5 374786 genome.wustl.edu 37 17 28417602 28417602 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198529.3 +1 validated p.D1283Y 1.000 156 0% 106 34% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CPD 1362 genome.wustl.edu 37 17 28788917 28788917 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001304.3 +1 reviewed p.F1218C 0.997 77 0% 43 25.6% 24 41.6% benign(0.012) tolerated(0.08) neutral(0.300) superfamily_CarboxypepD_reg ENSG00000247185 0 genome.wustl.edu 37 17 29096748 29096749 + RNA INS - - AT rs59722699 byCluster;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000499895 +1 known NULL 0.000:0.000 - - - - - - - - - - ATAD5 79915 genome.wustl.edu 37 17 29221045 29221045 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024857.3 +1 provisional p.S1725* 1.000 113 0% 79 29.1% 5 60% - - - NULL NF1 4763 genome.wustl.edu 37 17 29557326 29557326 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042492.2 +1 reviewed p.T1013 0.085 63 0% 66 36.4% 10 30% - - - NULL EVI2A 2123 genome.wustl.edu 37 17 29645623 29645623 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001003927.2 -1 validated p.I160L 0.683 217 0% 101 43.6% 9 0% benign(0.14) deleterious(0.05) neutral(0.357) HMMPfam_EVI2A NF1 4763 genome.wustl.edu 37 17 29653000 29653000 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042492.2 +1 reviewed p.F1666 1.000 129 0% 68 17.6% 8 37.5% - - - HMMSmart_SM00516 SUZ12 23512 genome.wustl.edu 37 17 30320885 30320885 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015355.2 +1 reviewed p.F432C 1.000 67 0% 78 35.9% 15 53.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SUZ12 23512 genome.wustl.edu 37 17 30325975 30325975 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015355.2 +1 reviewed p.D725Y 1.000 17 0% 15 26.7% 15 13.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL LRRC37B 114659 genome.wustl.edu 37 17 30348938 30348938 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052888.2 +1 validated p.S258Y 0.042 41 0% 35 37.1% 1 100% probably_damaging(0.983) tolerated(0.38) neutral(0.447) NULL LRRC37B 114659 genome.wustl.edu 37 17 30349429 30349429 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052888.2 +1 validated p.E422* 0.016 90 0% 121 18.2% 8 12.5% - - - NULL RHBDL3 162494 genome.wustl.edu 37 17 30625188 30625188 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138328.2 +1 validated p.R249Q 1.000 121 0% 130 46.9% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rhomboid MYO1D 4642 genome.wustl.edu 37 17 30965828 30965828 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015194.1 -1 provisional p.D874G 1.000 161 0% 65 27.7% 55 49% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Myosin_TH1 MYO1D 4642 genome.wustl.edu 37 17 31072280 31072280 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015194.1 -1 provisional p.D521G 1.000 65 0% 52 26.9% 17 58.8% possibly_damaging(0.639) deleterious(0) deleterious(0.668) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1D 4642 genome.wustl.edu 37 17 31099817 31099817 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015194.1 -1 provisional p.S203Y 1.000 111 0% 104 33.7% 9 55.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases SPACA3 124912 genome.wustl.edu 37 17 31322445 31322445 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173847.3 +1 provisional p.V18A 0.003 59 0% 59 27.1% 0 - benign(0.235) deleterious(0) neutral(0.468) NULL ENSG00000226049 0 genome.wustl.edu 37 17 32364880 32364880 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000430493 -1 known p.E613D 1.000 202 0% 325 36% 14 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000226049 0 genome.wustl.edu 37 17 32365195 32365195 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000430493 -1 known p.I508 1.000 271 0% 466 28.5% 10 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000226049 0 genome.wustl.edu 37 17 32365623 32365623 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000430493 -1 known p.N366H 1.000 215 0% 371 32.6% 0 - - - - NULL CCL7 6354 genome.wustl.edu 37 17 32598134 32598134 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000394627 +1 known p.Q43 0.000 45 0% 26 50% 0 - - - - NULL CCL7 6354 genome.wustl.edu 37 17 32598750 32598750 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006273.2 +1 reviewed p.D77Y 0.958 83 0% 28 21.4% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 C17orf102 400591 genome.wustl.edu 37 17 32906173 32906173 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207454.2 -1 validated p.D43Y 0.000 12 0% 22 27.3% 0 - benign(0.127) - - NULL TMEM132E 124842 genome.wustl.edu 37 17 32959782 32959782 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207313.1 +1 provisional p.N424 1.000 73 0% 141 32.6% 1 0% - - - NULL TMEM132E 124842 genome.wustl.edu 37 17 32964531 32964531 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207313.1 +1 provisional p.G745 0.944 13 0% 19 26.3% 0 - - - - NULL LIG3 3980 genome.wustl.edu 37 17 33316592 33316592 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013975.2 +1 reviewed p.R267* 1.000 91 0% 64 45.3% 13 7.6% - - - HMMPfam_DNA_ligase_A_N RAD51D 5892 genome.wustl.edu 37 17 33443989 33443989 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142571.1 -1 reviewed p.S71L 0.000 53 0% 139 33.1% 0 - unknown(0) - - NULL UNC45B 146862 genome.wustl.edu 37 17 33477072 33477072 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173167.2 +1 validated p.D71N 1.000 73 0% 159 25.8% 0 - benign(0.409) deleterious(0.02) deleterious(0.515) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like SLFN11 91607 genome.wustl.edu 37 17 33679522 33679522 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001104587.1 -1 validated p.S853 0.808 226 0% 218 29.4% 51 31.3% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN11 91607 genome.wustl.edu 37 17 33679730 33679730 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001104587.1 -1 validated p.T784N 0.000 131 0% 103 32% 32 31.2% possibly_damaging(0.914) tolerated(0.44) neutral(0.379) superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN13 146857 genome.wustl.edu 37 17 33771971 33771971 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144682.5 -1 validated p.G243 0.905 161 0% 199 23.6% 1 0% - - - HMMPfam_AAA_4 SLFN12L 100506736 genome.wustl.edu 37 17 33802003 33802003 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145027.1 -1 validated p.F598S 0.040 196 0% 169 32.5% 0 - unknown(0) deleterious(0) - NULL SLFN12L 100506736 genome.wustl.edu 37 17 33849316 33849316 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145027.1 -1 validated p.F28C 0.005 116 0% 98 37.8% 0 - unknown(0) deleterious(0.03) - NULL SLFN14 342618 genome.wustl.edu 37 17 33884628 33884628 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001129820.1 -1 provisional p.E152K 0.982 81 0% 44 36.4% 0 - probably_damaging(0.995) tolerated(0.84) neutral(0.458) NULL SLFN14 342618 genome.wustl.edu 37 17 33884959 33884959 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001129820.1 -1 provisional p.E41D 0.994 105 0% 100 29% 0 - probably_damaging(0.955) tolerated(0.1) deleterious(0.685) NULL PEX12 5193 genome.wustl.edu 37 17 33904198 33904198 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000286.2 -1 reviewed p.R180Q 0.057 108 0% 92 39.1% 6 66.6% benign(0.001) tolerated(0.17) neutral(0.059) HMMPfam_Pex2_Pex12 GAS2L2 246176 genome.wustl.edu 37 17 34072827 34072827 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139285.2 -1 validated p.Q563 0.050 31 0% 66 24.2% 0 - - - - NULL GAS2L2 246176 genome.wustl.edu 37 17 34074179 34074179 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139285.2 -1 validated p.S314L 1.000 103 0% 224 33.9% 0 - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) NULL RDM1 201299 genome.wustl.edu 37 17 34249574 34249574 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001034836.1 -1 reviewed p.T225I 0.977 133 0% 143 30.1% 2 50% possibly_damaging(0.815) tolerated(0.05) deleterious(0.653) superfamily_SSF54768 CCL14 6358 genome.wustl.edu 37 17 34310858 34310858 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032962.4 -1 reviewed p.I103 0.010 121 0% 92 32.6% 4 0% - - - HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 MYO19 80179 genome.wustl.edu 37 17 34869537 34869537 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025109.5 -1 validated p.L251P 0.996 171 0% 156 37.8% 27 48.1% possibly_damaging(0.455) tolerated(0.18) neutral(0.205) HMMSmart_MYSc,superfamily_SSF52540 GGNBP2 79893 genome.wustl.edu 37 17 34935763 34935763 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024835.2 +1 validated p.R312* 1.000 123 0% 175 18.9% 48 16.6% - - - NULL ACACA 31 genome.wustl.edu 37 17 35468547 35468547 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198834.1 -1 reviewed p.E2162* 1.000 167 0% 108 21.3% 21 19% - - - HMMPfam_Carboxyl_trans,superfamily_SSF52096 ACACA 31 genome.wustl.edu 37 17 35518742 35518742 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198834.1 -1 reviewed p.R1768C 1.000 109 0% 79 36.7% 17 17.6% probably_damaging(0.965) deleterious(0.03) deleterious(0.771) HMMPfam_Carboxyl_trans,superfamily_SSF52096 C17orf78 284099 genome.wustl.edu 37 17 35736191 35736191 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173625.3 +1 validated p.P88S 0.000 139 0% 87 37.9% 1 0% benign(0.235) tolerated(1) neutral(0.024) NULL SYNRG 11276 genome.wustl.edu 37 17 35945533 35945533 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007247.4 -1 reviewed p.R126Q 1.000 147 0% 69 21.7% 8 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DDX52 11056 genome.wustl.edu 37 17 35981514 35981514 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007010.2 -1 validated p.E427* 1.000 185 0% 141 31.9% 12 8.3% - - - HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX52 11056 genome.wustl.edu 37 17 35986122 35986122 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007010.2 -1 validated p.E319* 1.000 80 0% 70 35.7% 16 0% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX52 11056 genome.wustl.edu 37 17 35993407 35993407 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007010.2 -1 validated p.S110A 0.985 208 0% 153 36.6% 2 0% possibly_damaging(0.601) deleterious(0) deleterious(0.652) superfamily_P-loop containing nucleoside triphosphate hydrolases HNF1B 6928 genome.wustl.edu 37 17 36099459 36099459 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000458.2 -1 reviewed p.Y172 1.000 164 0% 233 30.9% 13 0% - - - HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains GPR179 440435 genome.wustl.edu 37 17 36483289 36483289 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004334.2 -1 validated p.K2055E 0.000 148 0% 202 32.7% 0 - benign(0.001) tolerated(0.63) neutral(0.004) NULL GPR179 440435 genome.wustl.edu 37 17 36484015 36484015 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004334.2 -1 validated p.E1813* 0.073 118 0% 200 31% 0 - - - - NULL GPR179 440435 genome.wustl.edu 37 17 36484516 36484516 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004334.2 -1 validated p.E1646* 0.982 141 0% 199 31.7% 0 - - - - NULL GPR179 440435 genome.wustl.edu 37 17 36486588 36486588 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004334.2 -1 validated p.S955Y 0.780 72 0% 65 29.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ARHGAP23 57636 genome.wustl.edu 37 17 36625474 36625474 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020876.1 +1 provisional p.L486M 0.996 101 0% 264 11.7% 24 12.5% benign(0.046) tolerated(0.23) neutral(0.044) NULL PSMB3 5691 genome.wustl.edu 37 17 36916808 36916808 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002795.2 +1 reviewed p.T141A 1.000 92 0% 109 26.6% 524 34.7% benign(0.425) deleterious(0) deleterious(0.583) HMMPfam_Proteasome,superfamily_SSF56235 FLJ43826 342666 genome.wustl.edu 37 17 37188614 37188614 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_040620.2 +1 model NULL 0.000 16 0% 20 35% 0 - - - - - CDK12 51755 genome.wustl.edu 37 17 37657642 37657642 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016507.2 +1 validated p.K853N 1.000 210 0% 204 33.3% 14 35.7% unknown(0) tolerated(0.16) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ERBB2 2064 genome.wustl.edu 37 17 37866082 37866082 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004448.2 +1 reviewed p.P197 0.000 137 0% 256 35.9% 48 45.8% - - - HMMPfam_Furin-like,superfamily_Growth factor receptor domain,superfamily_L domain-like IKZF3 22806 genome.wustl.edu 37 17 37948938 37948938 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012481.3 -1 reviewed p.R138* 1.000 147 0% 60 35% 3 0% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers IKZF3 22806 genome.wustl.edu 37 17 37949093 37949093 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012481.3 -1 reviewed p.P86H 1.000 191 0% 122 30.3% 0 - possibly_damaging(0.925) deleterious(0.05) deleterious(0.719) NULL GSDMA 284110 genome.wustl.edu 37 17 38133129 38133129 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178171.4 +1 validated p.P386S 0.051 183 0% 263 33.8% 0 - probably_damaging(0.99) tolerated(0.07) deleterious(0.760) HMMPfam_Gasdermin MED24 9862 genome.wustl.edu 37 17 38185182 38185182 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014815.3 -1 reviewed p.L436 1.000 62 0% 89 36% 81 49.3% - - - NULL THRA 7067 genome.wustl.edu 37 17 38244633 38244633 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003250.4 +1 reviewed p.K288E 1.000 64 0% 71 29.6% 101 46.5% possibly_damaging(0.462) tolerated(0.15) neutral(0.392) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain MSL1 339287 genome.wustl.edu 37 17 38289820 38289820 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012241.1 +1 validated p.I267M 1.000 92 0% 94 26.6% 33 39.3% probably_damaging(0.965) tolerated(0.32) neutral(0.431) NULL RAPGEFL1 51195 genome.wustl.edu 37 17 38346727 38346727 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016339.3 +1 validated p.A180T 1.000 64 0% 109 29.4% 8 0% benign(0) tolerated(0.89) - superfamily_Ras_GEF TOP2A 7153 genome.wustl.edu 37 17 38555366 38555366 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001067.2 -1 reviewed p.E1072* 1.000 289 0% 110 19.1% 17 0% - - - HMMPfam_DNA_topoisoIV,HMMSmart_SM00434,superfamily_Type II DNA topoisomerase TOP2A 7153 genome.wustl.edu 37 17 38563154 38563154 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001067.2 -1 reviewed p.F556C 1.000 92 0% 99 38.4% 24 16.6% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMSmart_SM00433,superfamily_Type II DNA topoisomerase TOP2A 7153 genome.wustl.edu 37 17 38572677 38572677 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001067.2 -1 reviewed p.L89I 1.000 119 0% 187 27.3% 16 62.5% possibly_damaging(0.872) deleterious(0) deleterious(0.784) HMMSmart_SM00433,HMMPfam_HATPase_c,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase KRT222 125113 genome.wustl.edu 37 17 38818179 38818179 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152349.2 -1 validated p.L72I 1.000 201 0% 147 12.2% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_Filament KRT24 192666 genome.wustl.edu 37 17 38859518 38859518 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019016.2 -1 reviewed p.T143N 1.000 217 0% 191 34% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT26 353288 genome.wustl.edu 37 17 38925198 38925198 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181539.4 -1 reviewed p.L374I 0.335 126 0% 87 9.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT28 162605 genome.wustl.edu 37 17 38956037 38956037 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181535.3 -1 reviewed p.G37S 0.201 52 0% 67 23.9% 0 - benign(0.001) tolerated(0.78) neutral(0.001) NULL KRT10 3858 genome.wustl.edu 37 17 38976361 38976361 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000421.3 -1 reviewed p.I365 1.000 157 0% 248 32.7% 0 - - - - superfamily_Prefoldin,HMMPfam_Filament TMEM99 147184 genome.wustl.edu 37 17 38990930 38990930 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145274.2 +1 validated p.V54 0.001 357 0.3% 250 21.2% 25 24% - - - NULL KRT20 54474 genome.wustl.edu 37 17 39034451 39034451 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019010.1 -1 reviewed p.R362L 0.678 283 0% 168 29.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Filament KRT23 25984 genome.wustl.edu 37 17 39084857 39084857 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000377763 -1 known p.K24R 0.358 119 0% 88 30.7% 22 63.6% - - - NULL KRT40 125115 genome.wustl.edu 37 17 39137066 39137066 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182497.3 -1 reviewed p.E316K 1.000 85 0% 66 34.8% 0 - possibly_damaging(0.798) deleterious(0.01) deleterious(0.706) HMMPfam_Filament KRTAP4-9 100132386 genome.wustl.edu 37 17 39262372 39262372 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343553.1 +1 model p.S238* 0.000 93 0% 143 34.3% 0 - - - - NULL KRTAP4-4 84616 genome.wustl.edu 37 17 39316647 39316647 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032524.1 -1 reviewed p.T99 0.034 50 0% 110 24.5% 1 0% - - - HMMPfam_Keratin_B2 KRT33A 3883 genome.wustl.edu 37 17 39506866 39506866 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004138.2 -1 reviewed p.F52V 1.000 141 0% 171 33.9% 0 - benign(0.196) tolerated(0.09) neutral(0.315) NULL KRT37 8688 genome.wustl.edu 37 17 39580504 39580504 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003770.4 -1 reviewed p.I91T 0.000 89 0% 83 27.7% 0 - benign(0.001) tolerated(0.4) neutral(0.016) NULL KRT38 8687 genome.wustl.edu 37 17 39595528 39595528 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006771.3 -1 reviewed p.A220V 0.005 52 0% 62 14.5% 0 - possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) HMMPfam_Filament KRT32 3882 genome.wustl.edu 37 17 39620650 39620650 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002278.3 -1 reviewed p.E252K 1.000 69 0% 79 31.6% 0 - probably_damaging(0.98) deleterious(0.04) deleterious(0.773) HMMPfam_Filament KRT9 3857 genome.wustl.edu 37 17 39726144 39726144 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000226.3 -1 reviewed p.E283D 0.922 37 0% 67 22.4% 0 - possibly_damaging(0.472) deleterious(0.05) deleterious(0.501) HMMPfam_Filament KRT9 3857 genome.wustl.edu 37 17 39727648 39727648 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000226.3 -1 reviewed p.K199N 0.068 112 0% 153 24.2% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Filament JUP 3728 genome.wustl.edu 37 17 39919446 39919446 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002230.2 -1 reviewed p.V429A 1.000 106 0% 123 35% 215 42.7% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Arm,HMMSmart_ARM,superfamily_ARM-type_fold KLHL11 55175 genome.wustl.edu 37 17 40010662 40010662 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018143.1 -1 provisional p.S486L 1.000 109 0% 69 37.7% 8 37.5% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KAT2A 2648 genome.wustl.edu 37 17 40269466 40269466 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021078.2 -1 validated p.V526A 1.000 10 0% 27 25.9% 109 37.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Acyl-CoA N-acyltransferases (Nat) STAT3 6774 genome.wustl.edu 37 17 40475322 40475322 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139276.2 -1 reviewed p.I568 1.000 123 0% 106 30.2% 113 38% - - - superfamily_p53-like transcription factors,HMMPfam_STAT_bind FAM134C 162427 genome.wustl.edu 37 17 40744161 40744161 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178126.3 -1 validated p.L87I 0.995 213 0% 194 35.6% 11 45.4% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL CNTNAP1 8506 genome.wustl.edu 37 17 40838135 40838135 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003632.2 +1 reviewed p.F292 0.654 147 0% 223 32.3% 1 0% - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CNTD1 124817 genome.wustl.edu 37 17 40951216 40951216 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173478.2 +1 validated p.S44L 0.001 24 0% 55 36.4% 0 - benign(0.032) tolerated(0.23) neutral(0.043) superfamily_Cyclin-like BECN1 8678 genome.wustl.edu 37 17 40963698 40963698 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003766.3 -1 validated p.E387K 1.000 127 0% 115 23.5% 133 43.6% benign(0) tolerated(0.13) neutral(0.253) HMMPfam_APG6 AOC2 314 genome.wustl.edu 37 17 41002212 41002212 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_009590.2 +1 reviewed p.F706L 1.000 156 0% 204 36.3% 8 50% probably_damaging(0.991) tolerated(0.13) deleterious(0.697) HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain G6PC 2538 genome.wustl.edu 37 17 41062990 41062990 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000151.2 +1 reviewed p.K207N 0.997 80 0% 69 43.5% 0 - benign(0.009) tolerated(0.1) neutral(0.287) NULL BRCA1 672 genome.wustl.edu 37 17 41201212 41201212 + Splice_Site SNP C C A rs80358126 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007294.3 -1 reviewed e20-1 1.000 80 0% 83 21.7% 0 - - - - - BRCA1 672 genome.wustl.edu 37 17 41226451 41226451 + Silent SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007294.3 -1 reviewed p.S1524 0.349 157 0% 100 29% 8 12.5% - - - NULL BRCA1 672 genome.wustl.edu 37 17 41243927 41243927 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007294.3 -1 reviewed p.K1207N 0.733 107 0% 54 40.7% 3 100% possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL NBR1 4077 genome.wustl.edu 37 17 41345171 41345171 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005899.3 +1 reviewed p.E378D 1.000 122 0% 88 20.5% 54 31.4% probably_damaging(1) tolerated(0.25) deleterious(0.537) NULL NBR1 4077 genome.wustl.edu 37 17 41362052 41362052 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005899.3 +1 reviewed p.L954I 1.000 63 0% 95 32.6% 70 44.2% possibly_damaging(0.484) tolerated(0.37) neutral(0.179) NULL MPP3 4356 genome.wustl.edu 37 17 41888554 41888554 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001932.3 -1 reviewed p.K425N 1.000 163 0% 138 36.2% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases CD300LG 146894 genome.wustl.edu 37 17 41926087 41926087 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145273.3 +1 validated p.E69* 0.000 80 0% 139 31.7% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin C17orf53 78995 genome.wustl.edu 37 17 42225700 42225700 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024032.3 +1 validated p.G177* 0.088 100 0% 104 25% 6 16.6% - - - NULL ENSG00000251119 0 genome.wustl.edu 37 17 42265281 42265281 + RNA SNP C C A rs181352974 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000509949 -1 novel NULL 0.000 60 0% 94 34% 12 33.3% - - - - TMUB2 79089 genome.wustl.edu 37 17 42266532 42266532 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001076674.1 +1 validated p.D60Y 1.000 121 0% 188 36.7% 70 37.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITGA2B 3674 genome.wustl.edu 37 17 42461928 42461928 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000419.3 -1 reviewed p.F275 1.000 56 0% 79 34.2% 2 0% - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain GPATCH8 23131 genome.wustl.edu 37 17 42476223 42476223 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002909.1 -1 validated p.R1074 0.707 254 0% 269 29% 14 28.5% - - - NULL FZD2 2535 genome.wustl.edu 37 17 42635326 42635326 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001466.2 +1 reviewed p.F90 1.000 36 0% 92 26.1% 22 36.3% - - - superfamily_Frizzled_Cys-rich,HMMPfam_Fz,HMMSmart_FRI C17orf104 284071 genome.wustl.edu 37 17 42742808 42742808 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145080.2 +1 validated p.S139Y 1.000 92 0% 115 26.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL C17orf104 284071 genome.wustl.edu 37 17 42744068 42744068 + Nonsense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145080.2 +1 validated p.Y263* 1.000 54 0% 54 29.6% 0 - - - - NULL C17orf104 284071 genome.wustl.edu 37 17 42744232 42744232 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145080.2 +1 validated p.R318K 1.000 35 0% 37 37.8% 0 - possibly_damaging(0.631) deleterious(0) deleterious(0.665) NULL EFTUD2 9343 genome.wustl.edu 37 17 42971860 42971860 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004247.3 -1 validated p.G10 0.991 137 0% 170 28.8% 43 39.5% - - - NULL ENSG00000247075 0 genome.wustl.edu 37 17 43003324 43003324 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000499010 +1 novel NULL 0.000 51 0% 57 43.9% 49 53% - - - - SPPL2C 162540 genome.wustl.edu 37 17 43923358 43923358 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175882.2 +1 validated p.F362 0.109 92 0% 146 35.6% 0 - - - - HMMSmart_SM00730,HMMPfam_Peptidase_A22B MAPT 4137 genome.wustl.edu 37 17 44067416 44067416 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001123066.3 +1 validated p.S452Y 1.000 146 0% 174 34.5% 0 - possibly_damaging(0.66) deleterious(0.01) deleterious(0.639) NULL LRRC37A2 474170 genome.wustl.edu 37 17 44626700 44626700 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006607.2 +1 validated p.E1399* 0.002 50 0% 25 40% 4 75% - - - NULL LOC644397 644397 genome.wustl.edu 37 17 45102050 45102050 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_042323.2 +1 model NULL 1.000 230 0% 169 14.8% 0 - unknown(0) tolerated(0.72) - - CDC27 996 genome.wustl.edu 37 17 45206816 45206816 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114091.1 -1 reviewed p.K707N 1.000 217 0% 127 28.3% 18 50% benign(0.392) tolerated(0.05) deleterious(0.471) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like CDC27 996 genome.wustl.edu 37 17 45247390 45247390 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001114091.1 -1 reviewed p.Q90H 1.000 90 0% 70 30% 21 47.6% benign(0.001) tolerated(0.17) neutral(0.059) superfamily_TPR-like ITGB3 3690 genome.wustl.edu 37 17 45384951 45384951 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000212.2 +1 reviewed p.R750Q 1.000 70 0% 51 19.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Integrin_b_cyt C17orf57 124989 genome.wustl.edu 37 17 45412602 45412602 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152347.3 +1 provisional p.S24Y 0.129 142 0% 143 28% 0 - possibly_damaging(0.449) - - NULL C17orf57 124989 genome.wustl.edu 37 17 45447844 45447844 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152347.3 +1 provisional p.N283H 0.270 341 0% 310 35.2% 0 - possibly_damaging(0.531) tolerated(0.06) deleterious(0.502) superfamily_EF-hand C17orf57 124989 genome.wustl.edu 37 17 45490161 45490161 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152347.3 +1 provisional p.I767 0.892 151 0% 202 29.2% 0 - - - - superfamily_EF-hand OSBPL7 114881 genome.wustl.edu 37 17 45893498 45893498 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145798.2 -1 reviewed p.S365Y 1.000 48 0% 84 31% 18 61.1% possibly_damaging(0.885) tolerated(0.1) deleterious(0.632) NULL SCRN2 90507 genome.wustl.edu 37 17 45916869 45916869 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138355.3 -1 validated p.R166H 1.000 34 0% 53 49.1% 51 41.1% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL TTLL6 284076 genome.wustl.edu 37 17 46847272 46847272 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130918.1 -1 validated p.S743Y 0.000 259 0% 160 34.4% 0 - benign(0.003) deleterious(0) neutral(0.445) NULL TTLL6 284076 genome.wustl.edu 37 17 46865257 46865257 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130918.1 -1 validated p.S502L 0.069 212 0% 155 36.1% 0 - benign(0.005) tolerated(0.4) neutral(0.016) NULL TTLL6 284076 genome.wustl.edu 37 17 46882180 46882180 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130918.1 -1 validated p.L93I 0.001 187 0% 207 33.8% 0 - probably_damaging(0.959) deleterious(0.05) deleterious(0.748) NULL CALCOCO2 10241 genome.wustl.edu 37 17 46928470 46928470 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005831.3 +1 reviewed p.Q188P 0.137 161 0% 92 29.3% 38 23.6% benign(0.116) tolerated(0.14) neutral(0.259) HMMPfam_CALCOCO1 ATP5G1 516 genome.wustl.edu 37 17 46970885 46970885 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000513347 +1 known p.E36* 0.998 98 0% 148 37.8% 0 - - - - NULL ZNF652 22834 genome.wustl.edu 37 17 47394859 47394859 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145365.1 -1 validated p.E77* 1.000 114 0% 65 15.4% 10 20% - - - NULL ZNF652 22834 genome.wustl.edu 37 17 47394933 47394933 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145365.1 -1 validated p.K52T 1.000 99 0% 78 38.5% 7 57.1% possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL PHB 5245 genome.wustl.edu 37 17 47484166 47484166 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002634.2 -1 reviewed p.Q187H 1.000 78 0% 77 26% 342 37.1% benign(0.25) deleterious(0) deleterious(0.470) HMMPfam_Band_7,HMMSmart_SM00244 LOC100131693 100131693 genome.wustl.edu 37 17 47502025 47502025 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001726582.1 -1 model p.P87H 1.000 297 0% 379 31.7% 40 0% - - - HMMPfam_IF4E,superfamily_Translation initiation factor eIF4e NXPH3 11248 genome.wustl.edu 37 17 47656419 47656419 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007225.2 +1 validated p.I172 0.996 59 0% 106 30.2% 0 - - - - HMMPfam_Neurexophilin SPOP 8405 genome.wustl.edu 37 17 47684731 47684731 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007226.1 -1 reviewed p.R240* 1.000 175 0% 112 29.5% 19 15.7% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB FAM117A 81558 genome.wustl.edu 37 17 47810017 47810017 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030802.3 -1 validated p.R88C 1.000 81 1.2% 60 31.7% 21 38% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ITGA3 3675 genome.wustl.edu 37 17 48145641 48145641 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005501.2 +1 reviewed p.F212 0.969 21 0% 34 32.4% 37 51.3% - - - superfamily_Integrin alpha N-terminal domain ACSF2 80221 genome.wustl.edu 37 17 48540598 48540598 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025149.4 +1 validated p.K292E 0.024 52 0% 74 33.8% 61 29.5% benign(0.002) tolerated(0.57) neutral(0.006) HMMPfam_AMP-binding,superfamily_SSF56801 CHAD 1101 genome.wustl.edu 37 17 48545702 48545704 + In_Frame_Del DEL TTG TTG - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001267.2 -1 reviewed p.N157in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00369,superfamily_L domain-like MYCBPAP 84073 genome.wustl.edu 37 17 48597028 48597028 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032133.4 +1 validated p.R309* 0.103 65 0% 81 28.4% 0 - - - - NULL SPATA20 64847 genome.wustl.edu 37 17 48627914 48627914 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022827.2 +1 provisional p.F372L 1.000 161 0% 314 29.9% 95 47.3% benign(0.001) tolerated(0.43) neutral(0.013) superfamily_Six-hairpin glycosidases CACNA1G 8913 genome.wustl.edu 37 17 48653164 48653164 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018896.3 +1 validated p.S467 0.985 36 0% 41 29.3% 2 50% - - - NULL CACNA1G 8913 genome.wustl.edu 37 17 48673956 48673956 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018896.3 +1 validated p.F1005I 0.999 102 0% 186 30.1% 3 33.3% benign(0.003) tolerated(0.5) neutral(0.010) NULL CACNA1G 8913 genome.wustl.edu 37 17 48685253 48685253 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018896.3 +1 validated p.F1526L 1.000 306 0% 423 37.1% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1G 8913 genome.wustl.edu 37 17 48703853 48703853 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018896.3 +1 validated p.G2292D 0.817 35 0% 54 33.3% 5 40% benign(0) deleterious(0.01) neutral(0.406) NULL ABCC3 8714 genome.wustl.edu 37 17 48738398 48738398 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000502426 +1 known p.R326W 0.982 78 0% 98 36.7% 3 33.3% unknown(0) - - NULL ABCC3 8714 genome.wustl.edu 37 17 48741394 48741394 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003786.3 +1 reviewed p.F420L 1.000 104 0% 138 33.3% 15 26.6% benign(0.063) tolerated(0.26) neutral(0.038) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain SPAG9 9043 genome.wustl.edu 37 17 49057279 49057279 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130528.2 -1 reviewed e26-1 1.000 97 0% 39 25.6% 0 - - - - - SPAG9 9043 genome.wustl.edu 37 17 49059918 49059918 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130528.2 -1 reviewed p.I1068 1.000 152 0% 78 23.1% 23 4.3% - - - superfamily_WD40 repeat-like CA10 56934 genome.wustl.edu 37 17 49710967 49710967 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001082533.1 -1 reviewed p.I278 1.000 117 0% 57 33.3% 1 0% - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase CA10 56934 genome.wustl.edu 37 17 49825135 49825135 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001082533.1 -1 reviewed p.R108H 1.000 129 0% 62 38.7% 6 50% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase CA10 56934 genome.wustl.edu 37 17 50008395 50008395 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001082533.1 -1 reviewed p.F78 1.000 151 0% 65 30.8% 6 16.6% - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase KIF2B 84643 genome.wustl.edu 37 17 51901651 51901651 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032559.4 +1 validated p.N419 0.202 61 0% 58 27.6% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases NOG 9241 genome.wustl.edu 37 17 54671703 54671703 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005450.4 +1 reviewed p.N40I 1.000 15 0% 22 27.3% 5 40% possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) HMMPfam_Noggin,superfamily_SSF57501 VEZF1 7716 genome.wustl.edu 37 17 56060209 56060209 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007146.2 -1 validated p.K193N 1.000 77 0% 92 27.2% 49 34.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SRSF1 6426 genome.wustl.edu 37 17 56082658 56082658 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000423765 -1 known p.K291N 1.000 23 0% 38 28.9% 140 36.4% - - - NULL OR4D1 26689 genome.wustl.edu 37 17 56232705 56232705 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012374.1 +1 provisional p.R64Q 0.972 140 0% 278 35.3% 0 - benign(0.253) deleterious(0.04) neutral(0.375) HMMPfam_7tm_1,superfamily_SSF81321 EPX 8288 genome.wustl.edu 37 17 56270885 56270885 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000502.4 +1 reviewed p.R108 0.000 69 0% 108 37% 0 - - - - NULL EPX 8288 genome.wustl.edu 37 17 56276488 56276488 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000502.4 +1 reviewed p.R403I 0.050 41 0% 58 27.6% 0 - possibly_damaging(0.872) deleterious(0) deleterious(0.784) HMMPfam_An_peroxidase,superfamily_Peroxidase_super EPX 8288 genome.wustl.edu 37 17 56276915 56276915 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000502.4 +1 reviewed p.D433Y 1.000 139 0% 116 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Peroxidase_super LPO 4025 genome.wustl.edu 37 17 56329746 56329746 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006151.2 +1 reviewed p.G328 0.998 41 0% 63 25.4% 0 - - - - HMMPfam_An_peroxidase,superfamily_Peroxidase_super MPO 4353 genome.wustl.edu 37 17 56349231 56349231 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000250.1 -1 reviewed p.F605L 0.999 37 0% 63 30.2% 0 - possibly_damaging(0.804) tolerated(0.07) deleterious(0.621) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases MPO 4353 genome.wustl.edu 37 17 56352921 56352921 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000250.1 -1 reviewed p.I449 0.066 74 0% 117 23.1% 0 - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases MTMR4 9110 genome.wustl.edu 37 17 56572621 56572621 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004687.4 -1 validated p.S961* 1.000 95 0% 116 27.6% 10 30% - - - NULL MTMR4 9110 genome.wustl.edu 37 17 56572803 56572803 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004687.4 -1 validated p.F900L 1.000 135 0% 137 32.1% 8 12.5% possibly_damaging(0.906) tolerated(0.33) neutral(0.384) NULL MTMR4 9110 genome.wustl.edu 37 17 56581717 56581717 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004687.4 -1 validated p.H478N 1.000 81 0% 90 25.6% 14 71.4% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) superfamily_(Phosphotyrosine protein) phosphatases II C17orf47 284083 genome.wustl.edu 37 17 56620794 56620794 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001038704.1 -1 predicted p.P252T 0.000 69 0% 53 34% 0 - probably_damaging(0.994) - - NULL TEX14 56155 genome.wustl.edu 37 17 56642267 56642267 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198393.2 -1 reviewed p.S1383P 0.780 355 0% 220 28.6% 0 - benign(0.273) deleterious(0) deleterious(0.474) NULL TEX14 56155 genome.wustl.edu 37 17 56676432 56676432 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198393.2 -1 reviewed p.V758 0.008 224 0% 134 26.9% 0 - - - - NULL PPM1E 22843 genome.wustl.edu 37 17 57043102 57043102 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014906.3 +1 reviewed p.E211K 1.000 135 0% 57 33.3% 0 - benign(0.406) tolerated(0.07) neutral(0.450) superfamily_Protein serine/threonine phosphatase 2C catalytic domain PPM1E 22843 genome.wustl.edu 37 17 57057918 57057918 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014906.3 +1 reviewed p.K598N 1.000 84 0% 37 29.7% 0 - possibly_damaging(0.944) deleterious(0) deleterious(0.833) NULL PPM1E 22843 genome.wustl.edu 37 17 57058280 57058280 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014906.3 +1 reviewed p.S719Y 0.990 51 0% 31 29% 1 100% benign(0.318) tolerated(0.1) neutral(0.386) NULL TRIM37 4591 genome.wustl.edu 37 17 57105976 57105976 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005207.2 -1 reviewed p.R686Q 1.000 180 0% 196 24.5% 24 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMG8 55181 genome.wustl.edu 37 17 57290205 57290205 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018149.6 +1 validated p.S674L 0.759 71 0% 118 37.3% 12 50% benign(0.004) tolerated(0.28) neutral(0.032) HMMPfam_DUF2146 CLTC 1213 genome.wustl.edu 37 17 57760152 57760152 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004859.3 +1 reviewed p.E1255* 1.000 182 0% 86 39.5% 141 3.5% - - - HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat PTRH2 51651 genome.wustl.edu 37 17 57775155 57775155 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016077.3 -1 validated p.S62I 0.769 137 0% 89 22.5% 66 40.9% possibly_damaging(0.859) deleterious(0.03) deleterious(0.697) NULL RPS6KB1 6198 genome.wustl.edu 37 17 58003778 58003778 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000425292 +1 known p.M128R 0.711 85 0% 44 34.1% 0 - - - - NULL RPS6KB1 6198 genome.wustl.edu 37 17 58003789 58003789 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000425292 +1 known p.P132S 0.997 103 0% 58 25.9% 0 - - - - NULL RNFT1 51136 genome.wustl.edu 37 17 58033868 58033868 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016125.3 -1 validated p.R351Q 0.023 100 0% 93 35.5% 15 26.6% benign(0.038) tolerated(0.44) neutral(0.015) NULL USP32 84669 genome.wustl.edu 37 17 58372107 58372107 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032582.3 -1 validated p.M116I 1.000 105 0% 89 29.2% 6 83.3% benign(0.001) tolerated(0.77) neutral(0.001) superfamily_SSF47473 PPM1D 8493 genome.wustl.edu 37 17 58740381 58740381 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003620.2 +1 reviewed p.R429M 0.995 110 0% 84 28.6% 13 38.4% possibly_damaging(0.835) deleterious(0) deleterious(0.763) NULL PPM1D 8493 genome.wustl.edu 37 17 58740750 58740750 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003620.2 +1 reviewed p.R552Q 1.000 69 0% 61 23% 16 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BCAS3 54828 genome.wustl.edu 37 17 59024712 59024712 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099432.1 +1 validated p.K407T 1.000 131 0% 114 33.3% 11 9% benign(0.019) tolerated(0.2) neutral(0.050) superfamily_WD40 repeat-like BCAS3 54828 genome.wustl.edu 37 17 59067518 59067518 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099432.1 +1 validated p.E470* 1.000 47 0% 42 35.7% 12 8.3% - - - NULL BCAS3 54828 genome.wustl.edu 37 17 59469413 59469413 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099432.1 +1 validated p.F905C 0.992 55 0% 83 27.7% 19 10.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL TBX4 9496 genome.wustl.edu 37 17 59560786 59560786 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018488.2 +1 reviewed p.F516C 1.000 103 0% 149 36.2% 0 - possibly_damaging(0.496) deleterious(0) deleterious(0.610) NULL BRIP1 83990 genome.wustl.edu 37 17 59861738 59861738 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032043.1 -1 reviewed p.I507M 0.034 199 0% 221 27.1% 5 20% benign(0.01) tolerated(0.39) neutral(0.017) NULL INTS2 57508 genome.wustl.edu 37 17 59952339 59952339 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020748.2 -1 validated p.K847N 1.000 82 0% 51 31.4% 4 25% benign(0.008) tolerated(0.5) neutral(0.010) NULL MED13 9969 genome.wustl.edu 37 17 60060162 60060162 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005121.2 -1 reviewed p.A1068S 1.000 142 0% 81 21% 15 40% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL MED13 9969 genome.wustl.edu 37 17 60061601 60061601 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005121.2 -1 reviewed p.R940H 1.000 171 0.6% 88 30.7% 4 25% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL MED13 9969 genome.wustl.edu 37 17 60072519 60072519 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005121.2 -1 reviewed p.K725 1.000 236 0% 156 30.8% 4 50% - - - NULL ENSG00000188755 0 genome.wustl.edu 37 17 60348819 60348819 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000339120 -1 known p.D96Y 0.887 73 0% 134 22.4% 0 - probably_damaging(0.994) deleterious(0.05) deleterious(0.797) superfamily_RabGAP_TBC EFCAB3 146779 genome.wustl.edu 37 17 60493532 60493532 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144933.1 +1 validated p.E439* 0.998 127 0% 87 25.3% 4 25% - - - NULL TLK2 11011 genome.wustl.edu 37 17 60679411 60679411 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006852.3 +1 validated p.L577I 1.000 149 0% 106 19.8% 16 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase MARCH10 162333 genome.wustl.edu 37 17 60813880 60813880 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001100875.1 -1 validated p.S450Y 0.025 63 0% 39 35.9% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL TANC2 26115 genome.wustl.edu 37 17 61432354 61432354 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025185.3 +1 validated p.L655I 1.000 105 0% 60 26.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TANC2 26115 genome.wustl.edu 37 17 61483524 61483524 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025185.3 +1 validated p.L1085I 1.000 81 0% 54 31.5% 5 20% benign(0.068) deleterious(0.02) neutral(0.388) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CYB561 1534 genome.wustl.edu 37 17 61512487 61512487 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001017916.1 -1 validated p.A175T 0.464 24 0% 47 29.8% 87 40.2% possibly_damaging(0.692) deleterious(0.01) deleterious(0.653) HMMPfam_Cytochrom_B561,HMMSmart_SM00665 DDX42 11325 genome.wustl.edu 37 17 61883973 61883973 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007372.2 +1 reviewed p.R269W 1.000 124 0% 66 28.8% 65 35.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases CSHL1 1444 genome.wustl.edu 37 17 61987475 61987475 + Missense_Mutation SNP G G A rs142516141 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000450719 -1 known p.S168L 0.000 126 0% 105 34.3% 0 - benign(0.04) deleterious(0) neutral(0.447) NULL ICAM2 3384 genome.wustl.edu 37 17 62080240 62080240 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000873.3 -1 reviewed p.S232L 0.001 42 0% 57 31.6% 60 0% possibly_damaging(0.889) deleterious(0.01) deleterious(0.755) NULL ERN1 2081 genome.wustl.edu 37 17 62122798 62122798 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001433.3 -1 reviewed p.I858 0.004 110 0% 96 31.2% 4 25% - - - HMMPfam_Ribonuc_2-5A,superfamily_Protein kinase-like (PK-like) POLG2 11232 genome.wustl.edu 37 17 62492561 62492561 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007215.3 -1 reviewed p.K176Q 0.040 106 0% 186 32.3% 8 50% benign(0.012) tolerated(0.17) neutral(0.059) superfamily_SSF55681 DDX5 1655 genome.wustl.edu 37 17 62496745 62496745 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004396.3 -1 validated p.D455N 1.000 147 0% 304 30.3% 725 40.8% possibly_damaging(0.582) tolerated(0.06) deleterious(0.522) superfamily_P-loop containing nucleoside triphosphate hydrolases CEP95 90799 genome.wustl.edu 37 17 62512864 62512864 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138363.1 +1 provisional p.E131* 0.677 213 0% 172 30.2% 6 0% - - - NULL SMURF2 64750 genome.wustl.edu 37 17 62542057 62542057 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022739.3 -1 validated p.R719Q 1.000 181 0% 156 30.8% 26 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT SMURF2 64750 genome.wustl.edu 37 17 62542441 62542441 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022739.3 -1 validated p.R696K 0.995 147 0% 93 34.4% 41 46.3% probably_damaging(0.956) deleterious(0.03) deleterious(0.764) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT SMURF2 64750 genome.wustl.edu 37 17 62579633 62579633 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022739.3 -1 validated p.R172I 1.000 289 0% 202 35.1% 18 38.8% possibly_damaging(0.497) deleterious(0.04) deleterious(0.515) HMMPfam_WW,HMMSmart_WW,superfamily_WW_Rsp5_WWP RGS9 8787 genome.wustl.edu 37 17 63173900 63173900 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003835.3 +1 reviewed p.P211 0.944 244 0% 192 28.6% 2 0% - - - NULL RGS9 8787 genome.wustl.edu 37 17 63221584 63221584 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003835.3 +1 reviewed p.L624F 0.118 24 0% 55 40% 1 0% benign(0.121) tolerated(0.09) neutral(0.306) NULL APOH 350 genome.wustl.edu 37 17 64210703 64210703 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000042.2 -1 reviewed p.E284* 0.962 184 0% 134 36.6% 0 - - - - HMMPfam_Sushi_2,superfamily_Complement_control_module BPTF 2186 genome.wustl.edu 37 17 65900009 65900009 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182641.3 +1 reviewed p.K883T 1.000 116 0% 92 23.9% 8 62.5% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL BPTF 2186 genome.wustl.edu 37 17 65909003 65909003 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182641.3 +1 reviewed p.T1668M 0.108 72 1.4% 44 25% 33 42.4% possibly_damaging(0.886) tolerated(0.09) deleterious(0.643) NULL KPNA2 3838 genome.wustl.edu 37 17 66042028 66042028 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002266.2 +1 reviewed p.F496L 1.000 123 0% 218 67% 251 91.2% possibly_damaging(0.913) deleterious(0.02) deleterious(0.748) superfamily_ARM repeat ABCA8 10351 genome.wustl.edu 37 17 66898957 66898957 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007168.2 -1 reviewed p.Y847* 0.000 129 0% 89 23.6% 0 - - - - NULL ABCA8 10351 genome.wustl.edu 37 17 66903979 66903979 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007168.2 -1 reviewed p.S687* 0.957 370 0% 203 30.5% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA8 10351 genome.wustl.edu 37 17 66925204 66925204 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007168.2 -1 reviewed p.L371I 0.397 51 0% 28 17.9% 0 - benign(0.124) tolerated(1) neutral(0.010) NULL ABCA8 10351 genome.wustl.edu 37 17 66925272 66925272 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007168.2 -1 reviewed p.S348* 0.001 59 0% 18 50% 0 - - - - NULL ABCA9 10350 genome.wustl.edu 37 17 66980306 66980306 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080283.3 -1 reviewed p.R1464W 1.000 106 0% 57 38.6% 1 0% unknown(0) - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA9 10350 genome.wustl.edu 37 17 66987093 66987093 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080283.3 -1 reviewed p.S1241Y 0.992 245 0% 113 29.2% 0 - benign(0.206) deleterious(0.01) neutral(0.426) NULL ABCA9 10350 genome.wustl.edu 37 17 67016674 67016674 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080283.3 -1 reviewed p.L819I 0.388 139 0% 75 32% 0 - probably_damaging(0.971) tolerated(0.1) deleterious(0.700) NULL ABCA9 10350 genome.wustl.edu 37 17 67039853 67039853 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080283.3 -1 reviewed p.A193T 0.006 74 0% 28 39.3% 0 - benign(0) tolerated(1) - NULL ABCA6 23460 genome.wustl.edu 37 17 67129936 67129936 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080284.2 -1 reviewed p.I213V 0.017 84 0% 32 34.4% 0 - benign(0.012) tolerated(1) neutral(0.001) NULL ABCA10 10349 genome.wustl.edu 37 17 67178399 67178399 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080282.3 -1 reviewed p.K888N 0.327 51 0% 37 32.4% 0 - probably_damaging(0.975) tolerated(0.13) deleterious(0.669) NULL ABCA10 10349 genome.wustl.edu 37 17 67178908 67178908 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080282.3 -1 reviewed p.D847Y 0.582 97 0% 96 22.9% 0 - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL ABCA10 10349 genome.wustl.edu 37 17 67189674 67189674 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080282.3 -1 reviewed p.R534I 1.000 234 0% 364 25.5% 1 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA10 10349 genome.wustl.edu 37 17 67215784 67215784 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080282.3 -1 reviewed p.F144L 0.062 86 0% 58 32.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ABCA5 23461 genome.wustl.edu 37 17 67257802 67257802 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018672.3 -1 reviewed p.E1135* 1.000 36 0% 28 17.9% 3 66.6% - - - NULL ABCA5 23461 genome.wustl.edu 37 17 67285378 67285378 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018672.3 -1 reviewed p.K614N 0.648 323 0% 157 26.8% 8 37.5% benign(0.002) tolerated(1) - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases MAP2K6 5608 genome.wustl.edu 37 17 67501945 67501945 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002758.3 +1 reviewed p.K14T 1.000 206 0% 85 28.2% 52 51.9% benign(0.017) tolerated(0.18) neutral(0.057) NULL KCNJ16 3773 genome.wustl.edu 37 17 68129270 68129270 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018658.1 +1 reviewed p.D348N 1.000 68 0% 32 34.4% 0 - benign(0.071) tolerated(0.11) neutral(0.277) HMMPfam_IRK,superfamily_Ig_E-set KCNJ2 3759 genome.wustl.edu 37 17 68171797 68171797 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000891.2 +1 reviewed p.G206V 1.000 148 0% 113 37.2% 0 - possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_IRK,superfamily_E set domains COG1 9382 genome.wustl.edu 37 17 71192781 71192781 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018714.2 +1 reviewed p.C151G 1.000 94 0% 170 30% 23 52.1% possibly_damaging(0.712) tolerated(0.52) neutral(0.266) NULL COG1 9382 genome.wustl.edu 37 17 71202381 71202381 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018714.2 +1 reviewed p.R867C 0.995 88 0% 140 26.4% 71 46.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TTYH2 94015 genome.wustl.edu 37 17 72227120 72227120 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032646.5 +1 reviewed p.F132L 1.000 120 0% 140 27.9% 1 100% benign(0.001) tolerated(1) - HMMPfam_Tweety TTYH2 94015 genome.wustl.edu 37 17 72239541 72239541 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032646.5 +1 reviewed p.L222M 0.837 245 0% 322 12.4% 2 50% probably_damaging(0.96) deleterious(0.03) deleterious(0.768) HMMPfam_Tweety TTYH2 94015 genome.wustl.edu 37 17 72245491 72245491 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032646.5 +1 reviewed p.R295S 1.000 66 0% 99 35.4% 5 0% possibly_damaging(0.699) tolerated(0.95) neutral(0.252) HMMPfam_Tweety CD300A 11314 genome.wustl.edu 37 17 72470721 72470721 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007261.2 +1 validated p.I144L 0.000 74 0% 71 15.5% 16 0% benign(0.06) tolerated(0.22) neutral(0.046) NULL CD300LB 124599 genome.wustl.edu 37 17 72527568 72527568 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174892.2 -1 validated p.Q11H 0.004 48 0% 48 39.6% 1 0% possibly_damaging(0.949) - - NULL TMEM104 54868 genome.wustl.edu 37 17 72832145 72832145 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017728.3 +1 validated p.F270 0.088 68 0% 86 37.2% 19 36.8% - - - NULL GRIN2C 2905 genome.wustl.edu 37 17 72844084 72844084 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000835.3 -1 reviewed p.F560L 1.000 73 1.4% 100 29% 3 33.3% benign(0.013) tolerated(0.62) neutral(0.005) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II FADS6 283985 genome.wustl.edu 37 17 72874541 72874541 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178128.3 -1 validated p.L324 0.999 67 0% 117 29.1% 0 - - - - NULL C17orf28 283987 genome.wustl.edu 37 17 72956018 72956018 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030630.2 -1 validated p.E322D 1.000 39 0% 56 25% 56 35.7% benign(0) tolerated(0.95) - HMMPfam_Hid1 SLC16A5 9121 genome.wustl.edu 37 17 73089932 73089932 + Splice_Site SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004695.2 +1 provisional e1+2 1.000 42 0% 69 10.1% 0 - - - - - SLC16A5 9121 genome.wustl.edu 37 17 73102021 73102021 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004695.2 +1 provisional p.L471F 0.599 47 0% 84 38.1% 3 0% benign(0.045) tolerated(0.17) neutral(0.061) NULL NUP85 79902 genome.wustl.edu 37 17 73211908 73211908 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024844.3 +1 reviewed p.E155D 1.000 159 0% 163 35% 15 33.3% benign(0.029) tolerated(0.68) neutral(0.004) HMMPfam_Nucleopor_Nup85 RECQL5 9400 genome.wustl.edu 37 17 73625097 73625097 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004259.5 -1 validated p.E802D 0.010 41 0% 62 29% 20 35% benign(0.014) tolerated(0.55) neutral(0.007) HMMPfam_RecQ5 TRIM47 91107 genome.wustl.edu 37 17 73870925 73870925 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033452.2 -1 validated p.S519F 1.000 43 0% 69 21.7% 70 40% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL MRPL38 64978 genome.wustl.edu 37 17 73895623 73895623 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032478.3 -1 reviewed p.F281L 0.900 102 0% 175 10.9% 183 15.8% benign(0.13) tolerated(0.45) neutral(0.023) HMMPfam_PBP,superfamily_PEBP QRICH2 84074 genome.wustl.edu 37 17 74275153 74275153 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032134.1 -1 provisional p.E1463* 1.000 46 0% 83 31.3% 11 27.2% - - - NULL QRICH2 84074 genome.wustl.edu 37 17 74276782 74276782 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032134.1 -1 provisional p.E1306K 0.996 235 0% 313 30.7% 4 75% probably_damaging(0.996) tolerated(0.14) deleterious(0.711) NULL ST6GALNAC2 10610 genome.wustl.edu 37 17 74562296 74562296 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006456.2 -1 validated p.E339K 0.997 176 0% 240 25.4% 20 45% possibly_damaging(0.649) deleterious(0.01) deleterious(0.634) HMMPfam_Glyco_transf_29 JMJD6 23210 genome.wustl.edu 37 17 74714847 74714847 + Silent SNP G G A rs149210415 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001081461.1 -1 reviewed p.D392 0.982 109 0% 105 35.2% 64 46.8% - - - NULL MGAT5B 146664 genome.wustl.edu 37 17 74900375 74900375 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198955.1 +1 validated p.F198L 1.000 29 0% 62 25.8% 3 33.3% benign(0.005) tolerated(0.59) neutral(0.004) NULL MGAT5B 146664 genome.wustl.edu 37 17 74944008 74944008 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198955.1 +1 validated p.R683W 0.101 30 0% 46 37% 1 100% probably_damaging(0.967) deleterious(0.02) deleterious(0.792) NULL C17orf99 100141515 genome.wustl.edu 37 17 76142982 76142982 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000340363 +1 known p.A20 0.000 85 1.2% 153 24.8% 0 - - - - NULL AFMID 125061 genome.wustl.edu 37 17 76201777 76201777 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145526.1 +1 validated p.F246 0.959 77 0% 105 37.1% 16 31.2% - - - superfamily_alpha/beta-Hydrolases DNAH17 8632 genome.wustl.edu 37 17 76445562 76445562 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000389840 -1 known p.Y3701* 1.000 83 0% 164 26.2% 0 - - - - NULL DNAH17 8632 genome.wustl.edu 37 17 76511090 76511090 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000389840 -1 known p.I1289 0.154 88 0% 138 30.4% 0 - - - - HMMPfam_DHC_N2 DNAH17 8632 genome.wustl.edu 37 17 76521211 76521211 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000389840 -1 known p.I1244 0.021 73 0% 92 29.3% 0 - - - - NULL C1QTNF1 114897 genome.wustl.edu 37 17 77040155 77040155 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030968.2 +1 validated p.Q35 0.782 70 0% 110 37.3% 3 0% - - - NULL C1QTNF1 114897 genome.wustl.edu 37 17 77043771 77043771 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030968.2 +1 validated p.S149 0.218 41 0% 74 28.4% 4 0% - - - HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like CBX8 57332 genome.wustl.edu 37 17 77768703 77768703 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020649.2 -1 validated p.D301Y 0.726 25 0% 45 26.7% 15 53.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CCDC40 55036 genome.wustl.edu 37 17 78071125 78071125 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017950.2 +1 validated p.E1035* 0.020 46 0% 66 30.3% 2 0% - - - NULL EIF4A3 9775 genome.wustl.edu 37 17 78112014 78112014 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014740.3 -1 reviewed p.F265C 0.995 90 0% 127 35.4% 222 48.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 CARD14 79092 genome.wustl.edu 37 17 78155435 78155435 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024110.2 +1 reviewed p.S66R 0.016 15 0% 22 36.4% 0 - benign(0.002) tolerated(0.75) neutral(0.002) HMMPfam_CARD,superfamily_DEATH domain RNF213 57674 genome.wustl.edu 37 17 78298909 78298909 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000508628 +1 known p.K1035T 0.977 155 0% 173 11.6% 12 8.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL RNF213 57674 genome.wustl.edu 37 17 78307916 78307916 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000508628 +1 known p.F1385L 0.019 84 0% 102 31.4% 11 36.3% benign(0.018) tolerated(0.47) neutral(0.011) NULL RNF213 57674 genome.wustl.edu 37 17 78308012 78308012 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000508628 +1 known p.G1417 0.175 87 0% 84 25% 9 44.4% - - - NULL RNF213 57674 genome.wustl.edu 37 17 78327454 78327454 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000508628 +1 known p.L3522 0.000 93 0% 112 32.1% 34 11.7% - - - NULL RNF213 57674 genome.wustl.edu 37 17 78358877 78358877 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000508628 +1 known p.I4787M 0.153 52 0% 68 33.8% 66 15.1% probably_damaging(0.977) deleterious(0) deleterious(0.863) NULL RPTOR 57521 genome.wustl.edu 37 17 78796929 78796929 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020761.2 +1 reviewed p.R348* 0.997 154 0% 298 35.6% 9 11.1% - - - NULL LOC388428 388428 genome.wustl.edu 37 17 79152853 79152853 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_027255.1 +1 validated NULL 0.000 65 0% 122 27.9% 0 - - - - - SLC38A10 124565 genome.wustl.edu 37 17 79249847 79249847 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037984.1 -1 validated p.M278I 1.000 35 0% 78 32.1% 82 34.1% benign(0.031) tolerated(0.08) neutral(0.301) HMMPfam_Aa_trans LINC00482 284185 genome.wustl.edu 37 17 79278783 79278783 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178519.2 -1 predicted p.R128* 0.000 35 0% 78 23.1% 0 - - - - NULL BAHCC1 57597 genome.wustl.edu 37 17 79409857 79409857 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080519.2 +1 inferred p.R439* 0.564 23 0% 42 31% 3 0% - - - NULL BAHCC1 57597 genome.wustl.edu 37 17 79428955 79428955 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080519.2 +1 inferred p.L2367F 0.984 9 0.000 23 0.304 8 37.5% - - - NULL FSCN2 25794 genome.wustl.edu 37 17 79502166 79502166 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077182.2 +1 reviewed p.Y306fs 1.000 - - - - - - - - - superfamily_Actin-crosslinking proteins,HMMPfam_Fascin C17orf70 80233 genome.wustl.edu 37 17 79518010 79518010 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025161.5 -1 validated p.I19 0.023 6 0.000 25 0.520 26 26.9% - - - NULL NPLOC4 55666 genome.wustl.edu 37 17 79536138 79536138 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017921.2 -1 validated e14-1 1.000 129 0% 212 28.3% 0 - - - - - FAM195B 348262 genome.wustl.edu 37 17 79782212 79782212 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001093767.1 -1 validated p.S26 0.883 35 0% 48 25% 199 40.2% - - - NULL FASN 2194 genome.wustl.edu 37 17 80046702 80046702 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004104.4 -1 reviewed p.M785I 1.000 32 0% 43 46.5% 113 46.9% possibly_damaging(0.936) tolerated(0.1) deleterious(0.668) HMMPfam_Acyl_transf_1,superfamily_FabD/lysophospholipase-like SLC16A3 9123 genome.wustl.edu 37 17 80195519 80195519 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042422.1 +1 validated p.R291 0.995 48 0% 76 27.6% 80 25% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SECTM1 6398 genome.wustl.edu 37 17 80282549 80282549 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003004.2 -1 reviewed p.I104 0.000 46 0% 132 33.3% 22 18.1% - - - NULL NARF 26502 genome.wustl.edu 37 17 80430507 80430507 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012336.3 +1 reviewed p.F151 0.980 96 0% 107 27.1% 71 40.8% - - - HMMPfam_Fe_hyd_lg_C,superfamily_Fe-only hydrogenase FN3K 64122 genome.wustl.edu 37 17 80706737 80706737 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022158.3 +1 validated p.E159* 1.000 47 0% 117 37.6% 32 6.2% - - - superfamily_Kinase_like TBCD 6904 genome.wustl.edu 37 17 80765517 80765517 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005993.4 +1 reviewed p.T374M 0.996 64 0% 110 31.8% 66 40.9% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_HEAT,superfamily_ARM repeat B3GNTL1 146712 genome.wustl.edu 37 17 80992912 80992912 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009905.1 -1 validated p.S114L 0.995 93 0% 243 35% 13 38.4% possibly_damaging(0.61) tolerated(0.08) deleterious(0.511) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases THOC1 9984 genome.wustl.edu 37 18 214651 214651 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005131.2 -1 validated p.T650S 1.000 119 0% 64 17.2% 15 0% benign(0.002) tolerated(0.79) neutral(0.001) HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like COLEC12 81035 genome.wustl.edu 37 18 333079 333079 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130386.2 -1 validated p.I627M 0.999 92 0% 157 35% 5 20% possibly_damaging(0.74) - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like COLEC12 81035 genome.wustl.edu 37 18 346314 346314 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130386.2 -1 validated p.K436 1.000 123 0% 59 30.5% 4 50% - - - NULL COLEC12 81035 genome.wustl.edu 37 18 346656 346656 + Missense_Mutation SNP C C A rs192525084 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130386.2 -1 validated p.E322D 0.968 301 0% 175 33.1% 8 50% unknown(0) - - NULL COLEC12 81035 genome.wustl.edu 37 18 346930 346930 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130386.2 -1 validated p.S231N 1.000 140 0% 89 30.3% 8 37.5% unknown(0) - - NULL COLEC12 81035 genome.wustl.edu 37 18 348156 348156 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130386.2 -1 validated p.E63D 1.000 240 0% 124 34.7% 1 0% unknown(0) - - NULL CETN1 1068 genome.wustl.edu 37 18 580850 580850 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004066.1 +1 reviewed p.E148K 1.000 69 0% 130 30% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand CLUL1 27098 genome.wustl.edu 37 18 619340 619340 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014410.4 +1 validated p.K78N 1.000 119 0% 77 28.6% 7 57.1% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Clusterin,HMMSmart_CLb YES1 7525 genome.wustl.edu 37 18 732879 732879 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005433.3 -1 reviewed p.I460L 1.000 170 0% 127 26.8% 38 60.5% possibly_damaging(0.657) deleterious(0) deleterious(0.676) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like LOC441806 441806 genome.wustl.edu 37 18 856850 856850 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344135.1 +1 model p.W79* 0.990 54 0% 34 23.5% 0 - - - - HMMPfam_SAC3_GANP METTL4 64863 genome.wustl.edu 37 18 2539055 2539055 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022840.3 -1 validated p.E455* 1.000 145 0% 80 18.8% 5 40% - - - HMMPfam_MT-A70 MYOM1 8736 genome.wustl.edu 37 18 3090761 3090761 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003803.3 -1 reviewed p.E1302K 1.000 171 0% 100 31% 1 0% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMSmart_SM00409,superfamily_Immunoglobulin MYOM1 8736 genome.wustl.edu 37 18 3151707 3151707 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003803.3 -1 reviewed p.K610E 1.000 44 0% 40 47.5% 0 - benign(0.124) tolerated(0.15) neutral(0.251) NULL MYL12A 10627 genome.wustl.edu 37 18 3255763 3255763 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006471.2 +1 provisional p.Y121* 1.000 178 0% 262 32.8% 541 33.6% - - - HMMSmart_SM00054,superfamily_EF-hand MYL12B 103910 genome.wustl.edu 37 18 3277888 3277888 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144944.1 +1 validated p.E158K 1.000 94 0% 69 39.1% 924 39.7% benign(0.045) tolerated(0.68) neutral(0.005) superfamily_EF-hand DLGAP1 9229 genome.wustl.edu 37 18 3582195 3582195 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004746.2 -1 provisional p.R548I 1.000 344 0% 280 25.4% 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL EPB41L3 23136 genome.wustl.edu 37 18 5406895 5406895 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012307.2 -1 provisional p.E744* 1.000 246 0% 158 28.5% 6 0% - - - HMMPfam_SAB L3MBTL4 91133 genome.wustl.edu 37 18 6239872 6239872 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173464.3 -1 validated e7-1 0.083 77 0% 86 29.1% 0 - - - - - ARHGAP28 79822 genome.wustl.edu 37 18 6896537 6896537 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010000.1 +1 validated p.P489S 0.999 92 0% 55 34.5% 2 0% probably_damaging(0.959) tolerated(0.12) deleterious(0.663) NULL LAMA1 284217 genome.wustl.edu 37 18 6992720 6992720 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005559.2 -1 validated e36-1 0.987 126 0% 85 23.5% 0 - - - - - LAMA1 284217 genome.wustl.edu 37 18 6995430 6995430 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005559.2 -1 validated p.E1608* 0.004 363 0% 232 24.6% 2 0% - - - superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I LAMA1 284217 genome.wustl.edu 37 18 7044735 7044735 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005559.2 -1 validated p.G321D 0.985 56 0% 49 42.9% 4 100% probably_damaging(0.973) tolerated(0.2) neutral(0.464) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_Concanavalin A-like lectins/glucanases PTPRM 5797 genome.wustl.edu 37 18 8113646 8113646 + Silent SNP G G A rs149158808 byCluster;byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105244.1 +1 reviewed p.A673 0.984 90 0% 45 35.6% 71 50.7% - - - HMMSmart_SM00060,superfamily_Fibronectin type III PTPRM 5797 genome.wustl.edu 37 18 8253247 8253247 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105244.1 +1 reviewed p.S863 0.235 48 0% 32 28.1% 109 50.4% - - - NULL SOGA2 23255 genome.wustl.edu 37 18 8718560 8718560 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015210.3 +1 predicted p.R38W 1.000 91 0% 118 35.6% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SOGA2 23255 genome.wustl.edu 37 18 8806949 8806949 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015210.3 +1 predicted p.A832V 0.000 56 0% 52 32.7% 1 0% benign(0.002) tolerated(0.23) neutral(0.042) NULL NDUFV2 4729 genome.wustl.edu 37 18 9134248 9134248 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021074.4 +1 reviewed p.P241S 1.000 196 0% 288 12.2% 150 17.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ANKRD12 23253 genome.wustl.edu 37 18 9255547 9255547 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015208.3 +1 validated p.S761Y 0.739 98 0% 88 38.6% 2 50% possibly_damaging(0.527) deleterious(0.03) deleterious(0.542) superfamily_Ankyrin repeat ANKRD12 23253 genome.wustl.edu 37 18 9255573 9255573 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015208.3 +1 validated p.L770I 0.000 101 0% 100 21% 2 0% benign(0.01) tolerated(0.32) neutral(0.025) superfamily_Ankyrin repeat ANKRD12 23253 genome.wustl.edu 37 18 9257187 9257187 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015208.3 +1 validated p.R1308* 1.000 76 0% 45 33.3% 13 53.8% - - - superfamily_Ankyrin repeat ANKRD12 23253 genome.wustl.edu 37 18 9279560 9279560 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015208.3 +1 validated p.K1974T 1.000 116 0% 91 30.8% 12 8.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat RALBP1 10928 genome.wustl.edu 37 18 9522282 9522282 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006788.3 +1 validated p.E276D 1.000 91 0% 69 44.9% 35 37.1% benign(0.041) tolerated(0.17) neutral(0.061) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ENSG00000175388 0 genome.wustl.edu 37 18 10761037 10761037 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000383408 -1 known p.R371* 0.997 68 0% 59 30.5% 0 - - - - NULL ENSG00000168738 0 genome.wustl.edu 37 18 10855389 10855389 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000302079 -1 known p.F165L 1.000 82 0% 42 23.8% 0 - possibly_damaging(0.666) tolerated(0.31) neutral(0.263) NULL SLC35G4 646000 genome.wustl.edu 37 18 11610288 11610288 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_928960.2 +1 model p.L232 0.984 159 0% 336 26.8% 0 - - - - superfamily_SSF103481 GNAL 2774 genome.wustl.edu 37 18 11868564 11868564 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182978.2 +1 validated p.V311 0.667 128 0% 145 28.3% 1 100% - - - HMMPfam_G-alpha,superfamily_SSF52540 SLMO1 10650 genome.wustl.edu 37 18 12429376 12429376 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142405.1 +1 validated p.E165* 1.000 169 0% 262 36.3% 1 0% - - - HMMPfam_PRELI SPIRE1 56907 genome.wustl.edu 37 18 12452359 12452359 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128626.1 -1 validated p.L636R 1.000 94 0% 59 23.7% 6 50% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL SEH1L 81929 genome.wustl.edu 37 18 12987007 12987007 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013437.1 +1 reviewed p.R406L 1.000 109 0% 191 34% 28 35.7% possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL CEP192 55125 genome.wustl.edu 37 18 13049566 13049566 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032142.3 +1 validated p.E330* 0.809 132 0% 121 30.6% 3 0% - - - NULL CEP192 55125 genome.wustl.edu 37 18 13056355 13056355 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032142.3 +1 validated p.L660I 0.000 106 0% 53 15.1% 17 5.8% benign(0.354) tolerated(0.06) neutral(0.434) NULL RNMT 8731 genome.wustl.edu 37 18 13731676 13731676 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003799.1 +1 provisional p.D54N 0.000 128 0% 211 28% 8 87.5% benign(0.001) tolerated(0.17) neutral(0.059) NULL ZNF519 162655 genome.wustl.edu 37 18 14105604 14105604 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145287.3 -1 validated p.R312I 1.000 144 0% 92 30.4% 2 50% probably_damaging(0.99) tolerated(0.48) neutral(0.452) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000252234 0 genome.wustl.edu 37 18 14118668 14118668 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000516425 -1 novel NULL 0.012 29 0% 13 30.8% 1 100% - - - - NF1P5 4768 genome.wustl.edu 37 18 14156216 14156216 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000418350 -1 known p.F94L 0.214 26 0% 29 17.2% 0 - - - - NULL LOC646359 646359 genome.wustl.edu 37 18 14377894 14377894 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_929288.3 -1 model p.S290Y 0.794 41 0% 59 32.2% 0 - - - - NULL POTEC 388468 genome.wustl.edu 37 18 14534938 14534938 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137671.1 -1 validated p.K293N 0.025 542 0% 352 14.5% 0 - possibly_damaging(0.947) tolerated(0.06) deleterious(0.713) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat POTEC 388468 genome.wustl.edu 37 18 14534948 14534948 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137671.1 -1 validated p.F290C 0.637 533 0% 347 13.3% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat POTEC 388468 genome.wustl.edu 37 18 14543061 14543061 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137671.1 -1 validated p.H29N 0.000 222 0% 392 30.1% 0 - benign(0.138) tolerated(0.29) neutral(0.041) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14748569 14748569 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.V51F 0.004 24 0% 55 29.1% 0 - possibly_damaging(0.681) tolerated(0.1) deleterious(0.529) superfamily_Ankyrin repeat ANKRD30B 374860 genome.wustl.edu 37 18 14752951 14752951 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.E150D 0.003 164 0% 235 36.2% 0 - possibly_damaging(0.568) tolerated(0.17) neutral(0.254) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD30B 374860 genome.wustl.edu 37 18 14763743 14763743 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.D293 0.000 82 0% 40 27.5% 0 - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14778041 14778041 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.K463Q 0.026 90 0% 111 24.3% 0 - unknown(0) deleterious(0) - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14791465 14791465 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.F600 0.000 109 0% 65 36.9% 0 - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14796383 14796383 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.L632F 0.002 240 0% 94 38.3% 0 - probably_damaging(0.976) tolerated(0.08) deleterious(0.718) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14840632 14840632 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.A893T 0.000 57 0% 26 15.4% 0 - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14848848 14848848 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.K986N 0.171 116 0% 96 29.2% 0 - possibly_damaging(0.64) tolerated(0.12) deleterious(0.485) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14851666 14851666 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.K1122N 0.998 72 0% 81 23.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14851848 14851848 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.A1183V 0.770 57 0% 79 26.6% 0 - probably_damaging(0.989) tolerated(0.07) deleterious(0.758) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14852158 14852158 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145029.1 +1 validated p.Q1286H 0.844 86 0% 132 35.6% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL GREB1L 80000 genome.wustl.edu 37 18 19088476 19088476 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142966.1 +1 provisional p.E1553D 1.000 58 0% 37 27% 0 - probably_damaging(0.987) tolerated(0.08) deleterious(0.736) NULL ESCO1 114799 genome.wustl.edu 37 18 19153612 19153612 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052911.2 -1 validated p.K398T 1.000 146 0% 96 30.2% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ESCO1 114799 genome.wustl.edu 37 18 19153793 19153793 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052911.2 -1 validated p.E338* 0.306 265 0% 197 38.1% 3 0% - - - NULL MIB1 57534 genome.wustl.edu 37 18 19345793 19345793 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020774.2 +1 validated p.R97Q 1.000 91 0% 55 20% 10 70% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 CTAGE1 64693 genome.wustl.edu 37 18 19997414 19997414 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172241.2 -1 validated p.E121* 0.557 121 0% 153 29.4% 0 - - - - NULL C18orf8 29919 genome.wustl.edu 37 18 21110523 21110523 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013326.3 +1 validated p.R614H 1.000 87 0% 84 31% 28 50% probably_damaging(0.974) deleterious(0.02) deleterious(0.799) HMMPfam_Mic1 NPC1 4864 genome.wustl.edu 37 18 21113456 21113456 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000271.4 -1 reviewed p.K1206T 1.000 95 0% 93 44.1% 24 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Patched,superfamily_SSF82866 LAMA3 3909 genome.wustl.edu 37 18 21413848 21413848 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198129.1 +1 reviewed p.V960 0.000 141 0% 59 23.7% 1 100% - - - NULL TTC39C 125488 genome.wustl.edu 37 18 21644103 21644103 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135993.1 +1 validated e2-1 1.000 393 0% 194 30.9% 0 - - - - - ZNF521 25925 genome.wustl.edu 37 18 22804665 22804665 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015461.2 -1 validated p.E1073* 1.000 87 0% 41 31.7% 6 50% - - - NULL ZNF521 25925 genome.wustl.edu 37 18 22806183 22806183 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015461.2 -1 validated p.N567H 0.999 187 0% 92 40.2% 9 44.4% possibly_damaging(0.912) tolerated(0.15) deleterious(0.605) HMMSmart_SM00355 KCTD1 284252 genome.wustl.edu 37 18 24126860 24126860 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142730.1 -1 validated p.C547 1.000 29 0% 47 25.5% 56 60.7% - - - NULL AQP4 361 genome.wustl.edu 37 18 24436299 24436299 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001650.4 -1 reviewed p.N283S 1.000 285 0% 222 29.7% 1 0% benign(0) tolerated(0.11) neutral(0.272) NULL AQP4 361 genome.wustl.edu 37 18 24436366 24436366 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001650.4 -1 reviewed p.R261C 1.000 197 0% 151 41.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Aquaporin-like CHST9 83539 genome.wustl.edu 37 18 24496571 24496571 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031422.4 -1 validated p.V328 0.977 99 0% 40 30% 2 50% - - - HMMPfam_Sulfotransfer_2 CHST9 83539 genome.wustl.edu 37 18 24496913 24496913 + Silent SNP G G T rs182429803 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031422.4 -1 validated p.I214 0.824 173 0% 67 19.4% 0 - - - - HMMPfam_Sulfotransfer_2 CDH2 1000 genome.wustl.edu 37 18 25570083 25570083 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001792.3 -1 reviewed p.R526* 1.000 169 0% 75 24% 16 12.5% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH2 1000 genome.wustl.edu 37 18 25585811 25585811 + Splice_Site SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001792.3 -1 reviewed e6+2 1.000 134 0% 80 27.5% 0 - - - - - DSC3 1825 genome.wustl.edu 37 18 28576910 28576910 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001941.3 -1 reviewed p.E780D 0.998 166 0% 66 36.4% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL DSC3 1825 genome.wustl.edu 37 18 28588311 28588311 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001941.3 -1 reviewed p.E482* 1.000 207 0% 91 28.6% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like DSC3 1825 genome.wustl.edu 37 18 28609511 28609511 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001941.3 -1 reviewed p.E146D 1.000 90 0% 75 40% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,superfamily_Cadherin-like DSC2 1824 genome.wustl.edu 37 18 28662281 28662281 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024422.3 -1 reviewed p.L396 1.000 133 0% 110 12.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28914115 28914115 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001942.2 +1 reviewed p.E319* 0.982 82 0% 53 26.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28919739 28919739 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001942.2 +1 reviewed p.N480H 0.029 66 0% 42 19% 0 - possibly_damaging(0.909) tolerated(0.49) neutral(0.372) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28934328 28934328 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001942.2 +1 reviewed p.I723 0.997 108 0% 72 27.8% 0 - - - - HMMPfam_Cadherin_C DSG3 1830 genome.wustl.edu 37 18 29041208 29041208 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001944.2 +1 reviewed p.E278* 0.950 114 0% 71 25.4% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin DSG2 1829 genome.wustl.edu 37 18 29115249 29115249 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001943.3 +1 reviewed p.D433Y 0.996 68 0% 27 33.3% 9 22.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DSG2 1829 genome.wustl.edu 37 18 29121176 29121176 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001943.3 +1 reviewed p.M634V 0.135 211 0% 94 22.3% 42 52.3% benign(0) tolerated(0.49) neutral(0.011) NULL DSG2 1829 genome.wustl.edu 37 18 29122786 29122786 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001943.3 +1 reviewed p.E769K 0.994 153 0% 91 29.7% 18 38.8% benign(0.11) tolerated(0.18) neutral(0.065) NULL TTR 7276 genome.wustl.edu 37 18 29172911 29172911 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000371.3 +1 reviewed p.R41Q 0.322 106 0% 64 29.7% 0 - benign(0.035) tolerated(0.25) neutral(0.039) HMMPfam_Transthyretin,HMMSmart_TR_THY,PatternScan_TRANSTHYRETIN_1,superfamily_Transthyretin TTR 7276 genome.wustl.edu 37 18 29178617 29178617 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000371.3 +1 reviewed p.V141 0.005 74 0% 42 23.8% 0 - - - - HMMPfam_Transthyretin,HMMSmart_TR_THY,superfamily_Transthyretin B4GALT6 9331 genome.wustl.edu 37 18 29264327 29264327 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004775.3 -1 reviewed p.F21L 1.000 179 0% 279 10.4% 4 0% benign(0.001) tolerated(1) - NULL TRAPPC8 22878 genome.wustl.edu 37 18 29477757 29477757 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014939.3 -1 validated p.T530A 1.000 73 0% 79 32.9% 12 33.3% probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_TPR-like TRAPPC8 22878 genome.wustl.edu 37 18 29487460 29487460 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014939.3 -1 validated p.L451R 1.000 116 0% 82 30.5% 11 36.3% benign(0.233) tolerated(0.57) neutral(0.029) NULL RNF125 54941 genome.wustl.edu 37 18 29598948 29598948 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017831.3 +1 reviewed p.L41P 0.974 26 0% 36 13.9% 3 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 RNF125 54941 genome.wustl.edu 37 18 29617189 29617189 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017831.3 +1 reviewed p.R92I 0.982 160 0% 157 32.5% 2 0% possibly_damaging(0.462) tolerated(0.2) neutral(0.201) superfamily_SSF57850 RNF138 51444 genome.wustl.edu 37 18 29704699 29704699 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016271.3 +1 reviewed p.S151Y 1.000 196 0% 180 35.6% 15 53.3% benign(0.002) deleterious(0.04) neutral(0.349) NULL FAM59A 64762 genome.wustl.edu 37 18 29848336 29848336 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022751.1 -1 provisional p.S709Y 0.026 91 0% 44 36.4% 1 0% benign(0.013) tolerated(0.67) neutral(0.003) NULL C18orf34 374864 genome.wustl.edu 37 18 30791941 30791941 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105528.1 -1 validated p.D719 0.172 297 0% 125 19.2% 0 - - - - NULL C18orf34 374864 genome.wustl.edu 37 18 30795600 30795600 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105528.1 -1 validated p.F664L 0.001 105 0% 40 27.5% 0 - benign(0.301) tolerated(1) neutral(0.093) NULL ASXL3 80816 genome.wustl.edu 37 18 31250667 31250667 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030632.1 +1 provisional p.G170* 1.000 176 0% 113 32.7% 0 - - - - NULL ASXL3 80816 genome.wustl.edu 37 18 31320407 31320407 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030632.1 +1 provisional p.K1013N 1.000 24 0% 25 28% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ASXL3 80816 genome.wustl.edu 37 18 31324143 31324143 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030632.1 +1 provisional p.R1444Q 0.739 26 0% 33 18.2% 0 - possibly_damaging(0.837) tolerated(0.12) deleterious(0.580) NULL ASXL3 80816 genome.wustl.edu 37 18 31326416 31326416 + Missense_Mutation SNP G G A rs190401191 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030632.1 +1 provisional p.D2202N 1.000 102 0% 98 28.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL NOL4 8715 genome.wustl.edu 37 18 31673467 31673467 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003787.3 -1 validated p.R245I 1.000 155 0% 72 20.8% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL NOL4 8715 genome.wustl.edu 37 18 31709908 31709908 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003787.3 -1 validated p.S114L 1.000 255 0% 148 33.8% 0 - possibly_damaging(0.706) deleterious(0.02) deleterious(0.637) NULL DTNA 1837 genome.wustl.edu 37 18 32418060 32418060 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001390.4 +1 reviewed p.S366F 1.000 128 0% 42 31% 0 - benign(0) tolerated(0.05) neutral(0.345) NULL ZNF397 84307 genome.wustl.edu 37 18 32825306 32825306 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001135178.2 +1 reviewed p.R213* 0.439 120 0% 144 32.6% 7 14.2% - - - NULL ZSCAN30 100101467 genome.wustl.edu 37 18 32834019 32834019 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001112734.2 -1 validated p.V294I 0.822 227 0% 134 29.9% 8 12.5% benign(0.001) tolerated(1) - superfamily_C2H2 and C2HC zinc fingers ZSCAN30 100101467 genome.wustl.edu 37 18 32834191 32834191 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001112734.2 -1 validated p.K236N 0.012 199 0% 158 31% 10 40% benign(0.006) tolerated(0.49) neutral(0.011) NULL ZSCAN30 100101467 genome.wustl.edu 37 18 32843508 32843508 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001112734.2 -1 validated p.E174D 0.039 118 0% 137 27% 6 16.6% possibly_damaging(0.945) tolerated(0.28) neutral(0.421) NULL GALNT1 2589 genome.wustl.edu 37 18 33257697 33257697 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020474.3 +1 reviewed p.L153I 1.000 107 0% 35 34.3% 36 36.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases ELP2 55250 genome.wustl.edu 37 18 33725995 33725995 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018255.1 +1 provisional p.G326V 1.000 181 0% 119 30.3% 35 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like FHOD3 80206 genome.wustl.edu 37 18 34310638 34310638 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025135.2 +1 validated p.E974D 1.000 124 0% 105 30.5% 7 28.5% possibly_damaging(0.617) tolerated(0.08) deleterious(0.514) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd FHOD3 80206 genome.wustl.edu 37 18 34327022 34327022 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025135.2 +1 validated p.R1211W 1.000 126 0% 171 35.7% 8 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd KIAA1328 57536 genome.wustl.edu 37 18 34539300 34539300 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020776.1 +1 validated p.E160* 1.000 208 0% 141 29.8% 0 - - - - NULL RIT2 6014 genome.wustl.edu 37 18 40323568 40323568 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002930.2 -1 provisional p.R182C 1.000 150 0% 106 24.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC14A2 8170 genome.wustl.edu 37 18 43207095 43207095 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007163.3 +1 validated p.L168 0.010 114 0% 70 25.7% 0 - - - - HMMPfam_UT SLC14A2 8170 genome.wustl.edu 37 18 43216962 43216962 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007163.3 +1 validated p.L220F 0.000 88 0% 73 27.4% 1 100% benign(0) tolerated(0.47) neutral(0.011) HMMPfam_UT EPG5 57724 genome.wustl.edu 37 18 43532514 43532514 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020964.2 -1 validated p.F368 1.000 94 0% 40 30% 2 50% - - - NULL PSTPIP2 9050 genome.wustl.edu 37 18 43565404 43565404 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000360076 -1 known p.F310C 0.078 146 0% 86 26.7% 2 0% unknown(0) - - NULL RNF165 494470 genome.wustl.edu 37 18 43914289 43914289 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152470.2 +1 validated p.R18* 1.000 67 0% 73 26% 0 - - - - NULL RNF165 494470 genome.wustl.edu 37 18 44027525 44027525 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152470.2 +1 validated e4-1 1.000 127 0% 117 33.3% 0 - - - - - RNF165 494470 genome.wustl.edu 37 18 44030343 44030343 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152470.2 +1 validated p.A234T 0.998 104 0% 58 37.9% 0 - benign(0.009) tolerated(0.62) neutral(0.005) NULL LOXHD1 125336 genome.wustl.edu 37 18 44057588 44057588 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145473.2 -1 reviewed p.H462 0.803 40 0% 36 13.9% 0 - - - - HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) LOXHD1 125336 genome.wustl.edu 37 18 44065006 44065006 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145472.2 -1 reviewed p.S942Y 0.998 181 0% 106 37.7% 0 - possibly_damaging(0.708) tolerated(0.07) deleterious(0.575) HMMPfam_PLAT,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) LOXHD1 125336 genome.wustl.edu 37 18 44109156 44109156 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144612.6 -1 reviewed p.K1227T 1.000 89 0% 62 22.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44122754 44122754 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144612.6 -1 reviewed p.I950 1.000 90 0% 68 16.2% 0 - - - - HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44159694 44159694 + Missense_Mutation SNP C C T rs140437150 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144612.6 -1 reviewed p.D292N 0.999 158 0% 93 35.5% 0 - benign(0.25) deleterious(0) deleterious(0.470) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44181393 44181393 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000441551 -1 known p.P288S 0.999 91 0% 53 17% 0 - - - - HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) KATNAL2 83473 genome.wustl.edu 37 18 44593467 44593467 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031303.2 +1 validated p.E196* 1.000 110 0% 70 15.7% 1 0% - - - superfamily_SSF52540 CTIF 9811 genome.wustl.edu 37 18 46238063 46238063 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142397.1 +1 validated p.R194Q 1.000 118 0% 99 37.4% 13 23% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LIPG 9388 genome.wustl.edu 37 18 47095817 47095817 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006033.2 +1 reviewed p.D157G 0.000 103 0% 123 32.5% 15 33.3% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases ACAA2 10449 genome.wustl.edu 37 18 47322241 47322241 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006111.2 -1 reviewed p.V108A 0.825 66 0% 115 28.7% 46 52.1% benign(0) tolerated(0.89) - HMMPfam_Thiolase_N,superfamily_Thiolase-like MBD1 4152 genome.wustl.edu 37 18 47802220 47802220 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015846.3 -1 reviewed p.L216 1.000 88 0% 140 29.3% 61 37.7% - - - NULL MBD1 4152 genome.wustl.edu 37 18 47802758 47802758 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015846.3 -1 reviewed p.R169K 1.000 190 0% 291 30.2% 37 43.2% probably_damaging(0.978) tolerated(0.23) neutral(0.462) HMMPfam_zf-CXXC MBD1 4152 genome.wustl.edu 37 18 47806299 47806299 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015846.3 -1 reviewed p.R22C 1.000 40 0% 96 32.3% 28 60.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain LOC100287130 100287130 genome.wustl.edu 37 18 47808806 47808806 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343599.1 +1 model p.S2 0.002 21 0% 29 37.9% 165 49.6% - - - NULL MAPK4 5596 genome.wustl.edu 37 18 48190559 48190559 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002747.3 +1 reviewed p.I77 0.897 40 0% 27 40.7% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAPK4 5596 genome.wustl.edu 37 18 48190847 48190847 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002747.3 +1 reviewed p.R173 1.000 21 0% 11 36.4% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ME2 4200 genome.wustl.edu 37 18 48446853 48446853 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002396.4 +1 reviewed p.F254 1.000 125 0% 74 27% 44 38.6% - - - HMMPfam_malic,superfamily_SSF53223 SMAD4 4089 genome.wustl.edu 37 18 48573625 48573625 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005359.5 +1 reviewed p.K70T 1.000 86 0% 45 15.6% 21 4.7% benign(0.199) deleterious(0.04) neutral(0.368) HMMPfam_MH1,HMMSmart_SM00523,superfamily_SMAD MH1 domain C18orf54 162681 genome.wustl.edu 37 18 51887079 51887079 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173529.4 +1 validated p.R46I 0.801 129 0% 219 30.1% 7 57.1% possibly_damaging(0.462) tolerated(0.13) neutral(0.404) NULL C18orf54 162681 genome.wustl.edu 37 18 51889177 51889177 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173529.4 +1 validated p.R209I 1.000 102 0% 156 19.9% 2 50% possibly_damaging(0.718) deleterious(0.01) deleterious(0.665) NULL CCDC68 80323 genome.wustl.edu 37 18 52596082 52596082 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143829.1 -1 validated p.S211Y 0.527 247 0% 147 25.9% 1 0% possibly_damaging(0.519) deleterious(0.04) deleterious(0.523) NULL TCF4 6925 genome.wustl.edu 37 18 53017619 53017619 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083962.1 -1 reviewed p.R174* 1.000 168 0% 64 23.4% 6 16.6% - - - NULL TCF4 6925 genome.wustl.edu 37 18 53131363 53131363 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083962.1 -1 reviewed p.E51* 1.000 125 0% 68 30.9% 8 25% - - - NULL TXNL1 9352 genome.wustl.edu 37 18 54291640 54291640 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004786.2 -1 validated p.R83Q 1.000 260 0% 169 28.4% 101 37.6% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin WDR7 23335 genome.wustl.edu 37 18 54424198 54424198 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015285.2 +1 reviewed p.E792* 1.000 103 0% 84 34.5% 2 0% - - - NULL ONECUT2 9480 genome.wustl.edu 37 18 55103734 55103734 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004852.2 +1 reviewed p.F262 1.000 41 0% 58 27.6% 0 - - - - NULL FECH 2235 genome.wustl.edu 37 18 55221620 55221620 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012515.2 -1 reviewed p.E323K 0.999 134 0% 75 24% 26 7.6% benign(0.065) tolerated(0.29) neutral(0.034) HMMPfam_Ferrochelatase,superfamily_Chelatase ATP8B1 5205 genome.wustl.edu 37 18 55336654 55336654 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005603.4 -1 reviewed p.E665* 1.000 151 0% 54 38.9% 3 0% - - - superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP8B1 5205 genome.wustl.edu 37 18 55355660 55355660 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005603.4 -1 reviewed p.A434T 0.993 356 0% 203 37.4% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81665 ALPK2 115701 genome.wustl.edu 37 18 56203089 56203089 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052947.3 -1 validated p.E1444K 0.001 54 0% 34 35.3% 1 0% benign(0) tolerated(0.07) neutral(0.319) NULL ALPK2 115701 genome.wustl.edu 37 18 56203607 56203607 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052947.3 -1 validated p.K1271T 0.000 69 0% 38 23.7% 2 0% benign(0.297) deleterious(0) deleterious(0.536) NULL ALPK2 115701 genome.wustl.edu 37 18 56205041 56205041 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052947.3 -1 validated p.D793A 0.000 217 0% 157 22.3% 1 0% benign(0.009) deleterious(0.03) neutral(0.365) NULL ZNF532 55205 genome.wustl.edu 37 18 56620896 56620896 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018181.4 +1 validated p.K1005N 1.000 57 0% 47 29.8% 17 41.1% probably_damaging(0.96) tolerated(0.18) neutral(0.459) NULL PIGN 23556 genome.wustl.edu 37 18 59742050 59742050 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012327.5 -1 reviewed p.F861V 1.000 98 0% 42 33.3% 39 41% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PigN KIAA1468 57614 genome.wustl.edu 37 18 59878388 59878388 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020854.3 +1 validated p.R177* 1.000 156 0% 75 42.7% 3 33.3% - - - NULL KIAA1468 57614 genome.wustl.edu 37 18 59878466 59878466 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020854.3 +1 validated p.K203Q 1.000 174 0% 94 30.9% 4 75% benign(0.001) tolerated(0.12) neutral(0.261) NULL KIAA1468 57614 genome.wustl.edu 37 18 59895736 59895736 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020854.3 +1 validated p.E451D 0.994 100 0% 45 20% 8 37.5% benign(0) tolerated(0.45) neutral(0.012) NULL SERPINB4 6318 genome.wustl.edu 37 18 61305037 61305037 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002974.2 -1 validated p.F363L 0.690 141 0% 74 27% 0 - possibly_damaging(0.93) deleterious(0.04) deleterious(0.726) HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin SERPINB4 6318 genome.wustl.edu 37 18 61308147 61308147 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002974.2 -1 validated p.R144* 0.000 374 0% 179 33.5% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB4 6318 genome.wustl.edu 37 18 61310773 61310773 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000413673 -1 known p.S15* 0.029 306 0% 115 33% 0 - benign(0.005) tolerated(1) - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB3 6317 genome.wustl.edu 37 18 61328086 61328086 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006919.2 -1 validated p.L57P 0.115 259 0% 85 25.9% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB7 8710 genome.wustl.edu 37 18 61471669 61471669 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040147.1 +1 validated p.R315C 0.986 79 0% 33 27.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin HMSD 284293 genome.wustl.edu 37 18 61621721 61621721 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001123366.1 +1 validated p.R51I 0.135 191 0% 263 28.5% 1 0% - - - HMMPfam_Serpin,superfamily_Serpins SERPINB8 5271 genome.wustl.edu 37 18 61648980 61648980 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002640.3 +1 validated p.F111S 1.000 168 0% 159 36.5% 1 100% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CDH7 1005 genome.wustl.edu 37 18 63526215 63526215 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004361.2 +1 reviewed p.N476I 1.000 81 0% 49 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like CDH7 1005 genome.wustl.edu 37 18 63547714 63547714 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004361.2 +1 reviewed p.E648* 1.000 76 0% 69 26.1% 0 - - - - HMMPfam_Cadherin_C CDH19 28513 genome.wustl.edu 37 18 64172259 64172259 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021153.2 -1 reviewed p.L703 0.000 193 0% 60 38.3% 0 - - - - HMMPfam_Cadherin_C CDH19 28513 genome.wustl.edu 37 18 64172414 64172414 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021153.2 -1 reviewed p.E652* 0.992 159 0% 92 33.7% 0 - - - - HMMPfam_Cadherin_C DSEL 92126 genome.wustl.edu 37 18 65178281 65178281 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032160.2 -1 validated p.D1199Y 0.660 218 0% 263 34.2% 3 33.3% possibly_damaging(0.509) deleterious(0.02) deleterious(0.553) superfamily_P-loop containing nucleoside triphosphate hydrolases DSEL 92126 genome.wustl.edu 37 18 65179816 65179816 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032160.2 -1 validated p.R687I 1.000 101 0% 120 35% 6 16.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DSEL 92126 genome.wustl.edu 37 18 65180693 65180693 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032160.2 -1 validated p.L395I 1.000 128 0% 213 32.9% 5 80% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL DSEL 92126 genome.wustl.edu 37 18 65181371 65181371 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032160.2 -1 validated p.L169I 1.000 69 0% 102 34.3% 6 50% possibly_damaging(0.907) tolerated(0.19) neutral(0.410) NULL CCDC102B 79839 genome.wustl.edu 37 18 66504023 66504023 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001093729.1 +1 validated p.R8Q 0.004 51 0% 25 32% 1 0% benign(0.035) tolerated(0.07) neutral(0.321) NULL CCDC102B 79839 genome.wustl.edu 37 18 66564571 66564571 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001093729.1 +1 validated p.M390T 1.000 147 0% 114 21.9% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL DOK6 220164 genome.wustl.edu 37 18 67424997 67424997 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152721.5 +1 validated p.Q248H 1.000 115 0% 62 43.5% 2 100% benign(0.198) tolerated(0.21) neutral(0.063) NULL NETO1 81832 genome.wustl.edu 37 18 70461453 70461453 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138966.2 -1 reviewed p.E180K 1.000 114 0% 76 30.3% 0 - possibly_damaging(0.948) tolerated(0.12) deleterious(0.651) HMMSmart_SM00042,superfamily_Spermadhesin CUB domain NETO1 81832 genome.wustl.edu 37 18 70461640 70461640 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138966.2 -1 reviewed e5-1 1.000 79 0% 38 26.3% 0 - - - - - TIMM21 29090 genome.wustl.edu 37 18 71816215 71816215 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014177.2 +1 validated p.L58I 0.000 50 0% 128 31.2% 33 51.5% benign(0.06) tolerated(0.42) neutral(0.018) NULL ZNF407 55628 genome.wustl.edu 37 18 72343146 72343146 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017757.2 +1 reviewed p.S57 0.000 64 0% 95 31.6% 1 0% - - - NULL ZNF407 55628 genome.wustl.edu 37 18 72344369 72344369 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017757.2 +1 reviewed p.R465I 0.032 39 0% 60 33.3% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF407 55628 genome.wustl.edu 37 18 72346576 72346576 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017757.2 +1 reviewed p.E1201* 0.716 37 0% 28 32.1% 0 - - - - NULL ZNF407 55628 genome.wustl.edu 37 18 72632618 72632618 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017757.2 +1 reviewed p.E1800K 0.999 82 0% 28 60.7% 7 42.8% probably_damaging(0.984) deleterious(0.03) deleterious(0.795) NULL ZNF236 7776 genome.wustl.edu 37 18 74561577 74561577 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007345.3 +1 validated p.E49* 1.000 97 0% 77 45.5% 2 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SALL3 27164 genome.wustl.edu 37 18 76752162 76752162 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_171999.2 +1 validated p.C57 0.949 20 0% 21 42.9% 0 - - - - HMMSmart_SM00355 HSBP1L1 440498 genome.wustl.edu 37 18 77728123 77728123 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136180.1 +1 validated p.Q51H 1.000 81 0% 118 29.7% 8 37.5% probably_damaging(0.965) deleterious(0.02) deleterious(0.790) HMMPfam_HSBP1 SHC2 25759 genome.wustl.edu 37 19 438796 438796 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012435.2 -1 validated p.N214K 1.000 60 0% 131 18.3% 12 58.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 HCN2 610 genome.wustl.edu 37 19 613983 613983 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001194.3 +1 validated p.E653K 1.000 13 0% 17 47.1% 9 44.4% possibly_damaging(0.879) tolerated(0.15) deleterious(0.584) HMMSmart_cNMP,superfamily_cNMP_binding POLRMT 5442 genome.wustl.edu 37 19 618523 618523 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005035.3 -1 reviewed p.S1129 0.975 182 0% 291 31.3% 197 53.8% - - - HMMPfam_RNA_pol,superfamily_SSF56672 POLRMT 5442 genome.wustl.edu 37 19 621775 621775 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005035.3 -1 reviewed p.F641 0.998 14 0% 27 33.3% 113 43.3% - - - superfamily_SSF56672 PALM 5064 genome.wustl.edu 37 19 727034 727034 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002579.2 +1 reviewed p.I28 0.878 13 0% 20 25% 12 66.6% - - - NULL C19orf21 126353 genome.wustl.edu 37 19 757377 757377 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173481.2 +1 predicted p.W144L 0.288 26 0% 50 38% 9 44.4% benign(0.033) tolerated(0.17) neutral(0.060) NULL C19orf21 126353 genome.wustl.edu 37 19 757397 757397 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173481.2 +1 predicted p.A151T 0.595 28 0% 48 31.2% 7 57.1% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL AZU1 566 genome.wustl.edu 37 19 829639 829639 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001700.3 +1 reviewed p.S98Y 0.542 32 0% 89 24.7% 0 - probably_damaging(0.959) tolerated(0.06) deleterious(0.725) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MED16 10025 genome.wustl.edu 37 19 873487 873514 + Frame_Shift_Del DEL CGCCCACCCACTGCAAGAGCTGCTGCAG CGCCCACCCACTGCAAGAGCTGCTGCAG - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 CGCCCACCCACTGCAAGAGCTGCTGCAG CGCCCACCCACTGCAAGAGCTGCTGCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005481.2 -1 validated p.L614fs 0.999:0.689:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.992:0.996:0.951:0.644:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL ABCA7 10347 genome.wustl.edu 37 19 1065283 1065283 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019112.3 +1 reviewed p.F2100L 1.000 67 0% 103 36.9% 40 32.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL HMHA1 23526 genome.wustl.edu 37 19 1084254 1084254 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012292.2 +1 validated p.Q991 0.009 20 0% 30 30% 19 0% - - - NULL ATP8B3 148229 genome.wustl.edu 37 19 1789555 1789555 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138813.2 -1 reviewed p.D884Y 0.012 11 0% 18 44.4% 0 - possibly_damaging(0.745) tolerated(0.09) deleterious(0.570) superfamily_SSF56784 ATP8B3 148229 genome.wustl.edu 37 19 1800385 1800385 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138813.2 -1 reviewed p.E406* 0.002 54 0% 80 23.7% 0 - - - - HMMPfam_E1-E2_ATPase AP3D1 8943 genome.wustl.edu 37 19 2109138 2109138 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003938.5 -1 validated p.R1078Q 0.082 59 0% 97 23.7% 138 42.7% unknown(0) tolerated(0.39) - HMMPfam_BLVR JSRP1 126306 genome.wustl.edu 37 19 2254235 2254235 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144616.3 -1 validated p.A71 0.024 127 0% 219 32% 13 15.3% - - - NULL THOP1 7064 genome.wustl.edu 37 19 2794856 2794856 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003249.3 +1 provisional p.F108 0.329 111 0% 187 31.6% 47 34% - - - superfamily_SSF55486 ZNF555 148254 genome.wustl.edu 37 19 2853382 2853382 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152791.4 +1 validated p.R440Q 0.000 96 0% 82 29.3% 3 33.3% possibly_damaging(0.701) tolerated(1) neutral(0.252) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF556 80032 genome.wustl.edu 37 19 2878213 2878213 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024967.1 +1 provisional p.Q419H 0.989 58 0% 80 37.5% 2 100% benign(0.012) tolerated(1) neutral(0.001) superfamily_SSF57667 ZNF57 126295 genome.wustl.edu 37 19 2916172 2916172 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173480.2 +1 validated p.G76E 1.000 178 0% 217 36.4% 5 60% benign(0.026) tolerated(0.23) neutral(0.043) NULL TLE6 79816 genome.wustl.edu 37 19 2994089 2994089 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143986.1 +1 validated p.F537S 0.703 55 0% 98 20.4% 0 - probably_damaging(0.958) tolerated(0.06) deleterious(0.724) HMMSmart_SM00320,superfamily_WD40 repeat-like GNA15 2769 genome.wustl.edu 37 19 3151719 3151719 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002068.2 +1 validated p.L167R 1.000 23 0% 31 29% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CELF5 60680 genome.wustl.edu 37 19 3290273 3290273 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021938.3 +1 reviewed p.F411V 1.000 85 0% 132 22.7% 1 0% benign(0.106) deleterious(0.05) neutral(0.353) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ATCAY 85300 genome.wustl.edu 37 19 3885801 3885801 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033064.4 +1 reviewed p.N12 1.000 39 0% 68 35.3% 0 - - - - NULL ITGB1BP3 27231 genome.wustl.edu 37 19 3939943 3939943 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_170678.2 +1 validated p.P123 0.779 90 0% 149 15.4% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD24 170961 genome.wustl.edu 37 19 4207303 4207303 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133475.1 +1 provisional p.Q177H 0.946 149 0% 239 23.4% 3 100% possibly_damaging(0.848) tolerated(0.05) deleterious(0.671) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SHD 56961 genome.wustl.edu 37 19 4288247 4288247 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020209.3 +1 validated p.H242N 1.000 57 0% 86 30.2% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 TMIGD2 126259 genome.wustl.edu 37 19 4298045 4298045 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144615.2 -1 validated p.A115V 0.000 30 0% 59 25.4% 2 0% possibly_damaging(0.482) tolerated(0.14) neutral(0.409) HMMSmart_SM00409,superfamily_Immunoglobulin CHAF1A 10036 genome.wustl.edu 37 19 4430593 4430593 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005483.2 +1 validated p.F634L 0.988 178 0% 309 34% 56 51.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PLIN4 729359 genome.wustl.edu 37 19 4508804 4508804 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080400.1 -1 provisional p.A1212 0.995 39 0% 58 31% 1 100% - - - superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain DPP9 91039 genome.wustl.edu 37 19 4694829 4694829 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139159.4 -1 reviewed p.D454Y 1.000 57 0% 101 29.7% 44 43.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DPPIV_N,superfamily_SSF82171 MIR7-3HG 284424 genome.wustl.edu 37 19 4772296 4772296 + RNA SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_027148.1 +1 validated NULL 0.005 217 0% 280 24.6% 0 - - - - - KDM4B 23030 genome.wustl.edu 37 19 5077410 5077410 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015015.2 +1 validated p.A237T 1.000 30 0% 66 24.2% 28 46.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00558,HMMPfam_JmjC LOC100130109 100130109 genome.wustl.edu 37 19 5576841 5576841 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001726381.2 -1 model p.E37K 0.998 74 0% 130 35.4% 162 0% - - - HMMPfam_LSM,HMMSmart_SM00651,superfamily_Sm-like ribonucleoproteins SAFB2 9667 genome.wustl.edu 37 19 5604601 5604601 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014649.2 -1 validated p.I518V 0.000 130 0% 170 32.9% 26 30.7% benign(0) tolerated(0.6) neutral(0.004) superfamily_SSF54928 SAFB 6294 genome.wustl.edu 37 19 5645359 5645359 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002967.2 +1 reviewed p.K186N 0.477 168 0% 186 31.7% 46 52.1% benign(0.364) tolerated(0.13) neutral(0.368) NULL LONP1 9361 genome.wustl.edu 37 19 5714240 5714240 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004793.2 -1 reviewed p.R158C 0.855 127 0% 284 35.9% 60 38.3% possibly_damaging(0.76) deleterious(0) deleterious(0.726) HMMPfam_LON,HMMSmart_LON DUS3L 56931 genome.wustl.edu 37 19 5790316 5790316 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020175.2 -1 validated p.Q43 0.026 66 0% 106 19.8% 21 23.8% - - - NULL FUT3 2525 genome.wustl.edu 37 19 5844652 5844652 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000149.3 -1 reviewed p.L67I 1.000 18 0% 27 40.7% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_Glyco_transf_10 ACER1 125981 genome.wustl.edu 37 19 6307194 6307194 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133492.2 -1 validated p.R199M 0.117 62 0% 59 25.4% 0 - possibly_damaging(0.509) tolerated(0.05) deleterious(0.516) HMMPfam_aPHC SLC25A41 284427 genome.wustl.edu 37 19 6429828 6429828 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000458275 -1 known p.S210F 0.148 61 0% 66 34.8% 0 - unknown(0) - - NULL TNFSF9 8744 genome.wustl.edu 37 19 6535039 6535039 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003811.3 +1 reviewed p.E243K 0.000 14 0% 20 35% 4 0% possibly_damaging(0.603) tolerated(0.54) neutral(0.216) NULL EMR1 2015 genome.wustl.edu 37 19 6916284 6916284 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001974.3 +1 reviewed p.K442T 0.001 96 0% 65 30.8% 1 0% possibly_damaging(0.819) tolerated(0.27) neutral(0.343) superfamily_Family A G protein-coupled receptor-like EMR1 2015 genome.wustl.edu 37 19 6924789 6924789 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001974.3 +1 reviewed p.R631Q 0.022 135 0% 163 33.1% 0 - benign(0.149) tolerated(1) neutral(0.013) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like EMR1 2015 genome.wustl.edu 37 19 6928298 6928298 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000381404 +1 known p.P739T 0.000 96 0% 98 32.7% 0 - possibly_damaging(0.948) - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like MCOLN1 57192 genome.wustl.edu 37 19 7598493 7598493 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020533.2 +1 reviewed p.R554C 1.000 30 0% 40 37.5% 30 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PNPLA6 10908 genome.wustl.edu 37 19 7607957 7607957 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006702.4 +1 reviewed p.R493H 1.000 41 0% 61 45.9% 94 30.8% benign(0.43) tolerated(0.3) neutral(0.169) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding STXBP2 6813 genome.wustl.edu 37 19 7712249 7712249 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006949.2 +1 reviewed p.F516 0.978 28 0% 54 29.6% 95 41% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins C19orf59 199675 genome.wustl.edu 37 19 7743400 7743400 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174918.2 +1 reviewed p.E133K 0.052 203 0% 355 32.4% 0 - benign(0.273) tolerated(0.17) neutral(0.088) NULL CLEC4G 339390 genome.wustl.edu 37 19 7794259 7794259 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198492.3 -1 validated p.N292T 0.003 28 0% 69 33.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CLEC4G 339390 genome.wustl.edu 37 19 7795011 7795011 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198492.3 -1 validated p.G174V 0.997 11 0% 23 39.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00034,superfamily_C-type lectin-like FBN3 84467 genome.wustl.edu 37 19 8190870 8190870 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032447.3 -1 reviewed p.V879 0.954 33 0% 54 20.4% 2 50% - - - HMMSmart_SM00179,superfamily_TB module/8-cys domain,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA CERS4 79603 genome.wustl.edu 37 19 8322837 8322837 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024552.2 +1 validated p.F272L 1.000 222 0% 348 27.9% 100 34% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 MYO1F 4542 genome.wustl.edu 37 19 8613157 8613157 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012335.3 -1 validated p.I382 0.918 101 0% 148 35.1% 17 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1F 4542 genome.wustl.edu 37 19 8615148 8615148 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012335.3 -1 validated p.R333C 0.991 57 0% 52 21.2% 20 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ADAMTS10 81794 genome.wustl.edu 37 19 8651767 8651767 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030957.2 -1 reviewed p.V724 1.000 86 0% 188 29.3% 14 35.7% - - - HMMPfam_ADAM_spacer1 ADAMTS10 81794 genome.wustl.edu 37 19 8670209 8670209 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030957.2 -1 reviewed p.I41 0.917 38 0% 39 48.7% 11 27.2% - - - HMMPfam_Pep_M12B_propep ACTL9 284382 genome.wustl.edu 37 19 8807918 8807918 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178525.3 -1 validated p.F378L 1.000 9 0.000 38 0.237 0 - benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain OR2Z1 284383 genome.wustl.edu 37 19 8842197 8842197 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004699.1 +1 provisional p.Q269H 0.000 114 0% 146 30.1% 0 - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MUC16 94025 genome.wustl.edu 37 19 9059465 9059465 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.S9327 0.000 237 0% 96 36.5% 1 100% - - - NULL MUC16 94025 genome.wustl.edu 37 19 9062572 9062572 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.A8292T 0.000 158 0% 64 26.6% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9064603 9064603 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.E7615* 0.000 180 0% 115 36.5% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9066906 9066906 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.G6847D 0.000 313 0% 193 29% 2 0% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9070134 9070134 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.R5771I 0.001 189 0% 101 30.7% 1 0% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9072625 9072625 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.P4941T 0.000 306 0% 210 29.5% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9072982 9072982 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.E4822* 0.000 240 0% 147 36.1% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9074182 9074182 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.D4422N 0.000 146 0% 82 36.6% 1 0% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9087277 9087277 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.D1513A 0.030 239 0% 130 38.5% 1 0% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9089250 9089250 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.P855 0.000 146 0% 85 32.9% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9091606 9091606 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024690.2 -1 validated p.S70L 0.000 152 0% 89 42.7% 0 - unknown(0) - - NULL OR7G2 390882 genome.wustl.edu 37 19 9212991 9212991 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005193.1 -1 provisional p.S331Y 0.000 118 0% 122 41% 0 - benign(0.022) tolerated(0.44) neutral(0.014) NULL OR7D2 162998 genome.wustl.edu 37 19 9296665 9296665 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175883.1 +1 provisional p.D70N 0.993 142 0% 192 16.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 ZNF559 84527 genome.wustl.edu 37 19 9452645 9452645 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032497.1 +1 provisional p.L173R 0.000 77 0% 75 30.7% 12 75% benign(0.091) tolerated(0.33) neutral(0.030) superfamily_SSF57667 ZNF177 7730 genome.wustl.edu 37 19 9492002 9492002 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003451.2 +1 validated p.R172I 0.999 137 0% 78 30.8% 8 62.5% possibly_damaging(0.864) tolerated(0.07) deleterious(0.653) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577518 9577518 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152476.2 -1 validated p.R702H 0.233 108 0% 61 31.1% 0 - benign(0.001) tolerated(1) - superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577948 9577948 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152476.2 -1 validated p.L559I 0.051 102 0% 57 12.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9578674 9578674 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152476.2 -1 validated p.E317* 0.009 312 0% 148 29.1% 0 - - - - superfamily_SSF57667 ZNF561 93134 genome.wustl.edu 37 19 9721015 9721015 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152289.2 -1 validated p.R441Q 0.012 164 0% 107 30.8% 34 35.2% benign(0.075) tolerated(0.05) neutral(0.350) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF561 93134 genome.wustl.edu 37 19 9721114 9721114 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152289.2 -1 validated p.R408H 0.003 212 0% 146 30.8% 16 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF846 162993 genome.wustl.edu 37 19 9868764 9868764 + Missense_Mutation SNP C C T rs60387559 byCluster;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077624.1 -1 validated p.R330Q 0.001 105 0% 83 38.6% 3 33.3% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DNMT1 1786 genome.wustl.edu 37 19 10291528 10291528 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001130823.1 -1 reviewed p.E51K 1.000 250 0% 182 34.6% 28 39.2% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_DMAP_binding CDC37 11140 genome.wustl.edu 37 19 10505942 10505942 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007065.3 -1 reviewed p.Y189D 1.000 189 0% 275 25.8% 471 32.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CDC37_M,superfamily_Hsp90 co-chaperone CDC37 CDC37 11140 genome.wustl.edu 37 19 10506618 10506618 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007065.3 -1 reviewed p.D122Y 1.000 102 0% 201 12.9% 442 18.5% probably_damaging(0.959) deleterious(0.02) deleterious(0.786) HMMPfam_CDC37_N PDE4A 5141 genome.wustl.edu 37 19 10570022 10570022 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000380686 +1 known p.L16I 0.000 44 0% 93 31.2% 0 - possibly_damaging(0.767) tolerated(0.16) neutral(0.344) NULL PDE4A 5141 genome.wustl.edu 37 19 10570054 10570054 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000380686 +1 known p.T26 0.819 75 0% 118 16.1% 0 - - - - superfamily_HD-domain/PDEase-like AP1M2 10053 genome.wustl.edu 37 19 10690390 10690390 + Splice_Site SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005498.4 -1 reviewed e7+2 0.999 57 0% 95 40% 0 - - - - - AP1M2 10053 genome.wustl.edu 37 19 10692225 10692225 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005498.4 -1 reviewed p.E162K 1.000 94 0% 144 23.6% 136 8% possibly_damaging(0.892) deleterious(0.01) deleterious(0.757) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,PatternScan_CLAT_ADAPTOR_M_1 QTRT1 81890 genome.wustl.edu 37 19 10812902 10812902 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031209.2 +1 validated p.E141D 1.000 35 0% 98 28.6% 47 40.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGT,superfamily_tRNA_ribo_trans CARM1 10498 genome.wustl.edu 37 19 11015739 11015739 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199141.1 +1 validated p.F111 0.995 105 0% 137 38.7% 114 40.3% - - - NULL SMARCA4 6597 genome.wustl.edu 37 19 11138559 11138559 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128849.1 +1 reviewed p.M1105I 1.000 108 0% 226 38.9% 176 43.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF52540 SPC24 147841 genome.wustl.edu 37 19 11258777 11258777 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182513.2 -1 provisional p.L108M 1.000 79 0% 104 25% 32 46.8% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Spc24 DOCK6 57572 genome.wustl.edu 37 19 11326522 11326522 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020812.2 -1 validated p.L1326M 0.516 150 0% 287 31% 5 40% probably_damaging(0.988) deleterious(0.05) deleterious(0.783) NULL ELAVL3 1995 genome.wustl.edu 37 19 11569399 11569399 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001420.3 -1 reviewed p.S121P 0.998 49 0% 87 37.9% 0 - benign(0.005) tolerated(0.13) neutral(0.253) superfamily_RNA-binding domain RBD ACP5 54 genome.wustl.edu 37 19 11686047 11686047 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001111034.1 -1 reviewed p.G252 0.056 20 0% 25 36% 171 0% - - - superfamily_SSF56300 ACP5 54 genome.wustl.edu 37 19 11688009 11688009 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001111034.1 -1 reviewed p.F42L 0.997 82 0% 129 27.1% 85 0% benign(0.271) tolerated(0.2) neutral(0.078) HMMPfam_Metallophos,superfamily_SSF56300 ZNF439 90594 genome.wustl.edu 37 19 11978656 11978656 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152262.2 +1 provisional p.R258* 0.000 155 0.6% 90 21.1% 3 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF69 7620 genome.wustl.edu 37 19 12016351 12016351 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000429654 +1 known p.K380T 0.000 103 0% 64 35.9% 2 50% possibly_damaging(0.927) deleterious(0.03) deleterious(0.740) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF700 90592 genome.wustl.edu 37 19 12059392 12059392 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144566.1 +1 provisional p.E185* 0.891 143 0% 141 24.8% 13 53.8% - - - superfamily_C2H2 and C2HC zinc fingers ZNF700 90592 genome.wustl.edu 37 19 12060421 12060421 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144566.1 +1 provisional p.K528E 0.993 119 0% 133 21.1% 14 42.8% possibly_damaging(0.657) deleterious(0.02) deleterious(0.615) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF433 163059 genome.wustl.edu 37 19 12127369 12127369 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080411.1 -1 provisional p.E105K 0.000 127 0% 104 20.2% 7 14.2% possibly_damaging(0.838) tolerated(0.08) deleterious(0.620) superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12155426 12155426 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080404.1 -1 inferred p.F311V 0.180 187 0% 281 34.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12157571 12157571 + Missense_Mutation SNP G G A rs142910242 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080404.1 -1 inferred p.S50L 0.630 198 0% 231 32.9% 2 0% benign(0.294) tolerated(0.23) neutral(0.133) superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF844 284391 genome.wustl.edu 37 19 12187226 12187226 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136501.1 +1 provisional p.L431I 0.000 139 0% 94 37.2% 5 60% possibly_damaging(0.763) tolerated(0.19) neutral(0.332) NULL ZNF844 284391 genome.wustl.edu 37 19 12187552 12187552 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136501.1 +1 provisional p.K539 0.049 122 0% 129 26.4% 9 66.6% - - - NULL ZNF625 90589 genome.wustl.edu 37 19 12256985 12256985 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145233.2 -1 provisional p.E16D 0.068 180 0% 193 22.3% 0 - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL ZNF44 51710 genome.wustl.edu 37 19 12384337 12384337 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016264.3 -1 validated p.K245Q 0.132 202 0% 228 26.3% 5 20% possibly_damaging(0.608) deleterious(0.02) deleterious(0.594) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF563 147837 genome.wustl.edu 37 19 12429529 12429529 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145276.2 -1 validated p.R437Q 0.000 174 0% 129 36.4% 8 25% possibly_damaging(0.791) tolerated(0.6) neutral(0.301) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF442 79973 genome.wustl.edu 37 19 12460983 12460983 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030824.2 -1 validated p.F472L 0.000 139 0% 120 33.3% 2 50% benign(0) tolerated(0.68) neutral(0.002) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF442 79973 genome.wustl.edu 37 19 12461050 12461050 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030824.2 -1 validated p.R450K 0.001 113 0% 100 35% 1 100% benign(0.001) tolerated(0.87) neutral(0.001) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF799 90576 genome.wustl.edu 37 19 12502508 12502508 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080821.1 -1 validated p.S235Y 0.000 216 0% 203 32% 4 25% probably_damaging(0.961) deleterious(0.02) deleterious(0.787) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF443 10224 genome.wustl.edu 37 19 12541147 12541147 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005815.4 -1 validated p.E613D 1.000 301 0% 183 21.3% 7 57.1% benign(0.17) deleterious(0.03) neutral(0.380) superfamily_C2H2 and C2HC zinc fingers ZNF443 10224 genome.wustl.edu 37 19 12541483 12541483 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005815.4 -1 validated p.E501D 0.991 151 0% 104 31.7% 7 42.8% benign(0.022) deleterious(0.05) neutral(0.346) superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12575333 12575333 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152601.3 -1 validated p.R468I 0.000 122 0% 187 33.7% 4 50% possibly_damaging(0.894) tolerated(0.2) neutral(0.401) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12575501 12575501 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152601.3 -1 validated p.R412I 0.762 127 0% 223 22.9% 3 33.3% possibly_damaging(0.809) tolerated(0.12) deleterious(0.565) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12575681 12575681 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152601.3 -1 validated p.R352Q 0.000 132 0% 212 30.7% 8 12.5% probably_damaging(0.962) tolerated(1) neutral(0.405) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12576269 12576269 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152601.3 -1 validated p.R156Q 0.000 140 0% 255 29.4% 1 0% benign(0.289) tolerated(1) neutral(0.089) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF564 163050 genome.wustl.edu 37 19 12638606 12638606 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144976.3 -1 validated p.S106R 0.009 140 0% 96 18.8% 6 50% benign(0.364) tolerated(0.43) neutral(0.130) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF490 57474 genome.wustl.edu 37 19 12692305 12692305 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020714.2 -1 validated p.K195T 0.005 224 0% 219 31.5% 3 66.6% benign(0.007) tolerated(0.3) neutral(0.029) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MAN2B1 4125 genome.wustl.edu 37 19 12775785 12775785 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000528.3 -1 reviewed p.A151T 1.000 28 0% 76 22.4% 61 27.8% benign(0.001) tolerated(0.71) neutral(0.002) HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl HOOK2 29911 genome.wustl.edu 37 19 12883667 12883667 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013312.2 -1 validated p.F105L 1.000 100 0% 159 35.8% 31 32.2% benign(0.003) tolerated(0.71) neutral(0.002) HMMPfam_HOOK FARSA 2193 genome.wustl.edu 37 19 13041434 13041434 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004461.2 -1 validated p.E93K 1.000 35 0% 76 13.2% 89 10.1% benign(0.001) tolerated(0.2) neutral(0.049) "superfamily_""Winged helix"" DNA-binding domain" C19orf53 28974 genome.wustl.edu 37 19 13888895 13888895 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014047.2 +1 validated p.I61 0.605 49 0% 74 32.4% 315 37.7% - - - HMMPfam_DUF2462 CC2D1A 54862 genome.wustl.edu 37 19 14037637 14037637 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017721.4 +1 reviewed p.E693* 1.000 123 0% 215 35.3% 57 14% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RLN3 117579 genome.wustl.edu 37 19 14139128 14139128 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080864.2 +1 validated p.E38* 1.000 27 0% 38 39.5% 0 - - - - HMMSmart_IlGF,superfamily_Insulin-like IL27RA 9466 genome.wustl.edu 37 19 14162424 14162424 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004843.2 +1 reviewed p.T512A 0.145 160 0% 297 38% 4 0% possibly_damaging(0.459) tolerated(0.4) neutral(0.166) NULL LPHN1 22859 genome.wustl.edu 37 19 14262104 14262104 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008701.2 -1 reviewed p.L1336I 1.000 6 0.000 16 0.438 19 57.8% benign(0.148) tolerated(0.38) neutral(0.030) HMMPfam_Latrophilin LPHN1 22859 genome.wustl.edu 37 19 14263416 14263416 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008701.2 -1 reviewed p.R1150W 1.000 128 0% 248 25.4% 56 30.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Latrophilin DNAJB1 3337 genome.wustl.edu 37 19 14627677 14627677 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006145.1 -1 provisional p.F131L 0.994 70 0% 113 31% 141 47.5% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL ZNF333 84449 genome.wustl.edu 37 19 14829800 14829800 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032433.2 +1 validated p.R554Q 0.989 55 0% 38 34.2% 17 35.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OR7C1 26664 genome.wustl.edu 37 19 14910580 14910580 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198944.1 -1 validated p.F123 0.020 147 0% 109 17.4% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR7C1 26664 genome.wustl.edu 37 19 14910750 14910750 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198944.1 -1 validated p.S67T 0.996 82 0% 81 30.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 OR7A10 390892 genome.wustl.edu 37 19 14951930 14951930 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005190.1 -1 provisional p.T254A 0.003 99 0% 83 26.5% 0 - benign(0.081) tolerated(0.08) neutral(0.306) HMMPfam_7tm_1,superfamily_SSF81321 OR7A10 390892 genome.wustl.edu 37 19 14952659 14952659 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005190.1 -1 provisional p.E11* 0.114 49 0% 35 28.6% 0 - - - - superfamily_SSF81321 SLC1A6 6511 genome.wustl.edu 37 19 15065085 15065085 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005071.1 -1 provisional p.R409H 1.000 26 0% 47 34% 0 - probably_damaging(0.965) deleterious(0.03) deleterious(0.771) HMMPfam_SDF CASP14 23581 genome.wustl.edu 37 19 15164410 15164410 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012114.1 +1 reviewed p.E49K 0.976 51 2% 39 20.5% 0 - benign(0.011) tolerated(0.23) neutral(0.042) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CASP14 23581 genome.wustl.edu 37 19 15164693 15164693 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012114.1 +1 reviewed p.F109 0.003 77 0% 38 34.2% 0 - - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like OR1I1 126370 genome.wustl.edu 37 19 15197903 15197903 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004713.1 +1 provisional p.I9 0.770 163 0% 81 25.9% 0 - - - - superfamily_SSF81321 ILVBL 10994 genome.wustl.edu 37 19 15226687 15226687 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006844.3 -1 reviewed p.E530* 1.000 74 0% 99 39.4% 65 24.6% - - - HMMPfam_TPP_enzyme_C,superfamily_Thiamin diphosphate-binding fold (THDP-binding) BRD4 23476 genome.wustl.edu 37 19 15379853 15379853 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058243.2 -1 reviewed p.D96N 1.000 169 0% 216 37.5% 33 48.4% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 WIZ 58525 genome.wustl.edu 37 19 15538166 15538166 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021241.2 -1 validated p.Q236H 0.995 28 0% 52 38.5% 48 45.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RASAL3 64926 genome.wustl.edu 37 19 15566961 15566961 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022904.1 -1 validated p.R559W 0.214 81 0% 165 27.3% 19 0% possibly_damaging(0.47) deleterious(0.01) deleterious(0.560) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP CYP4F22 126410 genome.wustl.edu 37 19 15651264 15651264 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173483.3 +1 reviewed p.K225N 1.000 21 0% 34 32.4% 0 - benign(0.175) tolerated(0.42) neutral(0.030) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F8 11283 genome.wustl.edu 37 19 15734813 15734813 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000441682 +1 known p.Y341H 1.000 91 0% 123 30.1% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_p450,superfamily_Cytochrome P450 LOC646575 646575 genome.wustl.edu 37 19 15777099 15777099 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343630.1 +1 model p.M46I 0.999 44 0% 26 38.5% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP4F12 66002 genome.wustl.edu 37 19 15784426 15784426 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023944.2 +1 reviewed p.W29* 0.040 57 0% 51 35.3% 0 - - - - NULL OR10H3 26532 genome.wustl.edu 37 19 15852673 15852673 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013938.1 +1 provisional p.G157 0.000 275 0% 227 36.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000225607 0 genome.wustl.edu 37 19 15881850 15881850 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000412610 -1 known p.R240K 0.940 79 0% 91 41.8% 0 - benign(0.002) tolerated(0.36) neutral(0.020) NULL CYP4F2 8529 genome.wustl.edu 37 19 16000449 16000449 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001082.3 -1 reviewed p.K234 0.040 126 0% 141 29.1% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CHERP 10523 genome.wustl.edu 37 19 16630500 16630500 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006387.5 -1 validated p.S830L 0.999 191 0% 373 27.9% 72 45.8% unknown(0) tolerated(0.65) - NULL CHERP 10523 genome.wustl.edu 37 19 16652748 16652748 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006387.5 -1 validated p.F44L 1.000 177 0% 323 33.7% 38 55.2% benign(0.235) deleterious(0) neutral(0.468) HMMPfam_Surp,HMMSmart_SM00648,superfamily_Surp module (SWAP domain Pfam 01805) C19orf42 79086 genome.wustl.edu 37 19 16770252 16770252 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024104.3 -1 validated p.K25N 1.000 90 0% 209 32.1% 80 38.7% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) NULL NWD1 284434 genome.wustl.edu 37 19 16923606 16923606 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007525.2 +1 validated p.K1311N 0.984 273 0% 269 34.9% 0 - benign(0.002) deleterious(0) neutral(0.445) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ABHD8 79575 genome.wustl.edu 37 19 17412293 17412293 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024527.4 -1 validated p.R45W 1.000 8 0.000 18 0.333 49 40.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM125A 93343 genome.wustl.edu 37 19 17535766 17535766 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138401.2 +1 provisional p.K262N 0.996 61 0% 83 25.3% 34 20.5% possibly_damaging(0.844) deleterious(0.04) deleterious(0.672) NULL NXNL1 115861 genome.wustl.edu 37 19 17571442 17571442 + Silent SNP G G T rs185508084 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138454.1 -1 provisional p.S79 0.999 64 0% 84 27.4% 0 - - - - superfamily_Thiordxn-like_fd SLC27A1 376497 genome.wustl.edu 37 19 17611352 17611352 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198580.1 +1 provisional p.R461H 0.999 52 0% 66 28.8% 28 32.1% possibly_damaging(0.791) deleterious(0.03) deleterious(0.661) HMMPfam_AMP-binding,superfamily_SSF56801 FAM129C 199786 genome.wustl.edu 37 19 17657510 17657510 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173544.4 +1 validated p.E555K 0.011 33 0% 56 26.8% 1 0% probably_damaging(0.979) tolerated(0.13) deleterious(0.674) NULL UNC13A 23025 genome.wustl.edu 37 19 17738725 17738725 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080421.2 -1 validated p.Q1348K 1.000 87 0% 106 28.3% 1 0% benign(0.171) deleterious(0.01) neutral(0.421) HMMPfam_DUF1041 UNC13A 23025 genome.wustl.edu 37 19 17766786 17766786 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080421.2 -1 validated p.D485N 0.076 46 0% 72 44.4% 0 - benign(0.003) tolerated(0.07) neutral(0.319) NULL MAP1S 55201 genome.wustl.edu 37 19 17831764 17831764 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018174.4 +1 validated p.V46 0.011 74 0% 148 27% 24 16.6% - - - NULL MAP1S 55201 genome.wustl.edu 37 19 17837745 17837745 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018174.4 +1 validated p.E518* 0.068 6 0.000 21 0.333 25 20% - - - NULL FCHO1 23149 genome.wustl.edu 37 19 17873601 17873601 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015122.2 +1 validated p.Y20D 1.000 59 0% 92 31.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FCH,HMMSmart_SM00055 IL12RB1 3594 genome.wustl.edu 37 19 18170811 18170811 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005535.1 -1 reviewed p.G626C 0.004 59 0% 116 25.9% 10 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL KIAA1683 80726 genome.wustl.edu 37 19 18375555 18375555 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145304.1 -1 validated p.M932T 0.986 32 0% 50 34% 1 0% benign(0.164) tolerated(0.2) neutral(0.064) NULL CRTC1 23373 genome.wustl.edu 37 19 18864341 18864341 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098482.1 +1 validated p.E206D 0.117 167 0% 276 29.3% 23 60.8% benign(0.002) tolerated(0.15) neutral(0.241) NULL COPE 11316 genome.wustl.edu 37 19 19021872 19021872 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007263.3 -1 reviewed p.F66 0.994 50 0% 85 31.8% 625 41.7% - - - HMMPfam_Coatomer_E MAU2 23383 genome.wustl.edu 37 19 19452129 19452129 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015329.3 +1 validated p.E216D 1.000 46 0% 83 36.1% 26 38.4% benign(0.021) tolerated(0.85) neutral(0.002) HMMPfam_Cohesin_load,superfamily_TPR-like ZNF14 7561 genome.wustl.edu 37 19 19822367 19822367 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021030.2 -1 reviewed p.R575* 0.000 120 0% 58 44.8% 10 30% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF253 56242 genome.wustl.edu 37 19 20003321 20003321 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021047.2 +1 provisional p.K422R 0.825 81 0% 56 12.5% 16 6.2% possibly_damaging(0.477) tolerated(0.09) neutral(0.454) superfamily_C2H2 and C2HC zinc fingers LOC100128975 100128975 genome.wustl.edu 37 19 20048609 20048609 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001719745.1 -1 model p.E58* 0.228 71 0% 47 23.4% 1 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF682 91120 genome.wustl.edu 37 19 20117004 20117004 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033196.2 -1 validated p.R436Q 0.000 177 0% 208 32.2% 10 50% probably_damaging(0.997) tolerated(0.33) deleterious(0.490) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF90 7643 genome.wustl.edu 37 19 20228942 20228942 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007138.1 +1 validated p.K193N 0.597 105 0% 76 25% 2 100% possibly_damaging(0.518) tolerated(0.18) neutral(0.230) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF90 7643 genome.wustl.edu 37 19 20230161 20230161 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007138.1 +1 validated p.N600H 0.983 41 0% 36 33.3% 4 50% possibly_damaging(0.795) tolerated(0.07) deleterious(0.617) NULL ZNF486 90649 genome.wustl.edu 37 19 20308712 20308712 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052852.2 +1 provisional p.R398I 0.998 54 0% 44 27.3% 3 0% benign(0.113) tolerated(0.16) neutral(0.068) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF85 7639 genome.wustl.edu 37 19 21132234 21132234 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003429.3 +1 validated p.R305I 0.098 46 0% 68 26.5% 5 0% possibly_damaging(0.892) deleterious(0) deleterious(0.796) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF85 7639 genome.wustl.edu 37 19 21132744 21132744 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003429.3 +1 validated p.S475I 0.663 46 0% 103 29.1% 5 60% benign(0) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF430 80264 genome.wustl.edu 37 19 21239487 21239487 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025189.3 +1 validated p.D125Y 0.030 111 0.9% 128 28.9% 4 0% benign(0.084) deleterious(0.02) neutral(0.389) NULL ZNF431 170959 genome.wustl.edu 37 19 21366281 21366281 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133473.2 +1 validated p.R392I 1.000 35 0% 31 35.5% 5 40% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF429 353088 genome.wustl.edu 37 19 21719853 21719853 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001415.2 +1 provisional p.R333K 0.998 45 0% 45 35.6% 6 50% benign(0.005) tolerated(0.39) neutral(0.016) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22154790 22154790 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007153.3 -1 provisional p.L888I 0.020 203 0% 74 29.7% 0 - benign(0.055) deleterious(0.01) neutral(0.409) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF257 113835 genome.wustl.edu 37 19 22271092 22271092 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033468.2 +1 provisional p.K180N 0.016 123 0% 75 33.3% 0 - possibly_damaging(0.912) deleterious(0.01) deleterious(0.769) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF257 113835 genome.wustl.edu 37 19 22271205 22271205 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033468.2 +1 provisional p.R218Q 0.000 85 0% 38 10.5% 0 - benign(0.049) tolerated(1) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF257 113835 genome.wustl.edu 37 19 22271743 22271743 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033468.2 +1 provisional p.E397D 1.000 123 0% 83 22.9% 0 - benign(0.001) deleterious(0.01) neutral(0.406) superfamily_C2H2 and C2HC zinc fingers ZNF676 163223 genome.wustl.edu 37 19 22363483 22363483 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001411.2 -1 provisional p.F346V 0.432 155 0% 75 16% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100287226 100287226 genome.wustl.edu 37 19 22496929 22496929 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343636.1 +1 model p.K104T 0.056 22 0% 23 26.1% 0 - possibly_damaging(0.763) tolerated(0.13) deleterious(0.535) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22497517 22497517 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343636.1 +1 model p.K300T 0.041 28 0% 37 32.4% 0 - benign(0.191) tolerated(0.1) neutral(0.304) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22497563 22497563 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343636.1 +1 model p.M315I 0.000 33 0% 40 17.5% 0 - benign(0.007) tolerated(0.56) neutral(0.006) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22498029 22498029 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343636.1 +1 model p.E471* 0.023 36 0% 41 36.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22498268 22498268 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343636.1 +1 model p.P550 0.157 52 0% 50 36% 0 - - - - superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22498953 22498953 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343636.1 +1 model p.E779* 0.144 49 0% 43 23.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22499217 22499217 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343636.1 +1 model p.D867Y 0.008 87 0% 119 46.2% 0 - benign(0.148) deleterious(0) neutral(0.458) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22574928 22574928 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098626.1 -1 validated p.R370I 0.994 128 0% 57 21.1% 0 - benign(0.038) tolerated(0.29) neutral(0.031) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22575432 22575432 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098626.1 -1 validated p.R202I 0.931 156 0% 99 27.3% 0 - benign(0.032) tolerated(0.13) neutral(0.254) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22586279 22586279 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098626.1 -1 validated p.F22L 0.013 345 0% 235 37.9% 0 - possibly_damaging(0.571) deleterious(0.04) deleterious(0.544) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC440518 440518 genome.wustl.edu 37 19 22780141 22780141 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_041921.2 +1 model NULL 0.230 35 0% 65 38.5% 0 - - - - - ZNF99 7652 genome.wustl.edu 37 19 22939303 22939303 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080409.1 -1 provisional p.F956L 0.000 72 0% 55 14.5% 0 - possibly_damaging(0.799) tolerated(0.68) neutral(0.303) HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22951177 22951177 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080409.1 -1 provisional p.L73F 0.002 221 0% 105 11.4% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_KRAB,superfamily_Krueppel-associated_box LOC646864 646864 genome.wustl.edu 37 19 23039970 23039970 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001726885.1 +1 model p.D122Y 0.419 78 0% 45 26.7% 0 - - - - NULL LOC646864 646864 genome.wustl.edu 37 19 23039982 23039982 + Nonsense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001726885.1 +1 model p.K126* 0.002 81 0% 46 34.8% 0 - - - - NULL LOC646864 646864 genome.wustl.edu 37 19 23040259 23040259 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001726885.1 +1 model p.T218N 0.000 71 0% 45 15.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC646864 646864 genome.wustl.edu 37 19 23040920 23040920 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001726885.1 +1 model p.S438 0.000 23 0% 27 40.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23159063 23159063 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001726961.1 -1 model p.K359T 0.976 42 0% 19 47.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23159144 23159144 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001726961.1 -1 model p.R332I 1.000 39 0% 31 41.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23543496 23543496 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003430.2 -1 validated p.R762I 0.691 119 0.8% 167 29.9% 6 33.3% benign(0.002) tolerated(0.13) neutral(0.253) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23544840 23544840 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003430.2 -1 validated p.R314I 0.050 107 0% 138 31.9% 4 0% benign(0.02) tolerated(0.33) neutral(0.025) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23837031 23837031 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138330.2 -1 validated p.R235I 0.961 128 0% 91 13.2% 3 0% benign(0) deleterious(0.01) neutral(0.406) superfamily_C2H2 and C2HC zinc fingers ZNF681 148213 genome.wustl.edu 37 19 23938289 23938289 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138286.2 -1 validated p.T23N 0.033 178 0% 231 29.4% 0 - possibly_damaging(0.904) deleterious(0.02) deleterious(0.742) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF726 730087 genome.wustl.edu 37 19 24116384 24116384 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000322487 +1 known p.A489V 0.900 41 0% 46 32.6% 1 100% possibly_damaging(0.687) tolerated(0.08) deleterious(0.545) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24309741 24309741 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203282.2 +1 validated p.K313N 0.924 101 0% 51 31.4% 16 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24310163 24310163 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203282.2 +1 validated p.R454I 0.998 82 0% 62 30.6% 10 60% unknown(0) tolerated(0.19) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24310547 24310547 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203282.2 +1 validated p.S582Y 0.961 57 0% 38 15.8% 13 23% possibly_damaging(0.733) deleterious(0) deleterious(0.713) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TSHZ3 57616 genome.wustl.edu 37 19 31767827 31767827 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020856.2 -1 validated p.R958* 0.892 94 0% 74 24.3% 4 0% - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like TSHZ3 57616 genome.wustl.edu 37 19 31770245 31770245 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020856.2 -1 validated p.S152R 1.000 109 0% 114 39.5% 2 0% possibly_damaging(0.934) tolerated(0.07) deleterious(0.699) NULL ZNF507 22847 genome.wustl.edu 37 19 32845405 32845405 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136156.1 +1 validated p.L557F 0.949 60 0% 93 22.6% 8 50% benign(0) tolerated(0.73) neutral(0.002) NULL PDCD5 9141 genome.wustl.edu 37 19 33076802 33076802 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004708.2 +1 reviewed p.L83I 0.990 122 0% 174 35.1% 173 43.9% benign(0.184) tolerated(0.9) neutral(0.017) HMMPfam_dsDNA_bind,superfamily_Hypothetical protein MTH1615 PDCD5 9141 genome.wustl.edu 37 19 33076883 33076883 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000419343 +1 known p.L110M 0.001 73 0% 90 31.1% 6 33.3% possibly_damaging(0.947) deleterious(0.02) deleterious(0.774) HMMPfam_dsDNA_bind TDRD12 91646 genome.wustl.edu 37 19 33240745 33240745 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001110822.1 +1 validated p.V184 1.000 220 0% 137 35% 0 - - - - NULL SLC7A9 11136 genome.wustl.edu 37 19 33324081 33324081 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001126335.1 -1 reviewed p.K458T 1.000 99 0% 115 29.6% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_AA_permease CEP89 84902 genome.wustl.edu 37 19 33422436 33422436 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032816.3 -1 validated p.E310* 1.000 126 0% 121 34.7% 7 42.8% - - - NULL CEP89 84902 genome.wustl.edu 37 19 33450945 33450945 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032816.3 -1 validated p.I56V 1.000 50 0% 57 29.8% 7 71.4% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL CEP89 84902 genome.wustl.edu 37 19 33462777 33462777 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032816.3 -1 validated p.L2I 0.702 48 0% 62 40.3% 13 30.7% possibly_damaging(0.477) tolerated(0.15) neutral(0.398) NULL RHPN2 85415 genome.wustl.edu 37 19 33503594 33503594 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033103.4 -1 reviewed p.L143V 0.297 130 0% 149 26.8% 15 26.6% benign(0.291) tolerated(0.28) neutral(0.121) HMMPfam_BRO1 GPATCH1 55094 genome.wustl.edu 37 19 33584313 33584313 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018025.2 +1 provisional p.D115N 1.000 104 0% 84 19% 7 42.8% benign(0.02) tolerated(0.18) neutral(0.057) HMMPfam_DUF1604 GPI 2821 genome.wustl.edu 37 19 34859597 34859597 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000175.3 +1 reviewed p.S131Y 0.051 83 0% 146 31.5% 995 42.5% benign(0.072) deleterious(0.01) neutral(0.411) HMMPfam_PGI,superfamily_SSF53697 GPI 2821 genome.wustl.edu 37 19 34890640 34890640 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000175.3 +1 reviewed p.K497N 1.000 182 0% 211 28.9% 1448 47.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PGI,superfamily_SSF53697 PDCD2L 84306 genome.wustl.edu 37 19 34916906 34916906 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032346.1 +1 provisional p.E320* 1.000 205 0% 313 33.2% 22 50% - - - HMMPfam_PDCD2_C UBA2 10054 genome.wustl.edu 37 19 34960072 34960072 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005499.2 +1 validated p.K623N 1.000 87 0% 96 31.2% 103 38.8% possibly_damaging(0.767) deleterious(0.01) deleterious(0.690) NULL ZNF181 339318 genome.wustl.edu 37 19 35231856 35231856 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029997.3 +1 validated p.K190 0.005 81 0% 50 26% 1 100% - - - NULL ZNF181 339318 genome.wustl.edu 37 19 35232240 35232240 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029997.3 +1 validated p.E318D 1.000 119 0% 111 36% 5 20% possibly_damaging(0.462) deleterious(0.01) deleterious(0.557) HMMSmart_SM00614,superfamily_C2H2 and C2HC zinc fingers ZNF599 148103 genome.wustl.edu 37 19 35250136 35250136 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007248.2 -1 validated p.R524W 0.000 202 0% 123 23.6% 0 - probably_damaging(0.972) tolerated(0.06) deleterious(0.736) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF599 148103 genome.wustl.edu 37 19 35250309 35250309 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001007248.2 -1 validated p.F466C 0.067 161 0% 83 20.5% 2 50% possibly_damaging(0.499) deleterious(0.01) deleterious(0.572) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF792 126375 genome.wustl.edu 37 19 35449873 35449873 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175872.4 -1 validated p.D296Y 0.000 174 0% 215 39.5% 0 - benign(0.411) deleterious(0.03) deleterious(0.497) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HPN 3249 genome.wustl.edu 37 19 35556498 35556498 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002151.2 +1 reviewed p.V321 0.944 67 0% 72 33.3% 35 57.1% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MAG 4099 genome.wustl.edu 37 19 35804235 35804235 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002361.2 +1 reviewed p.R587W 0.982 81 0% 94 27.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CD22 933 genome.wustl.edu 37 19 35837080 35837080 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001771.3 +1 validated p.R785I 0.000 56 0% 116 25% 6 0% benign(0.043) - - NULL FFAR2 2867 genome.wustl.edu 37 19 35940983 35940983 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005306.2 +1 reviewed p.P123S 1.000 101 0% 99 21.2% 1 0% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_7tm_1,superfamily_SSF81321 GAPDHS 26330 genome.wustl.edu 37 19 36033849 36033849 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014364.4 +1 reviewed p.N221S 1.000 79 0% 130 21.5% 19 26.3% benign(0.075) deleterious(0) neutral(0.450) HMMPfam_Gp_dh_N,superfamily_NAD(P)-bd HAUS5 23354 genome.wustl.edu 37 19 36111148 36111148 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015302.1 +1 validated p.L524I 0.990 25 0% 31 25.8% 18 33.3% benign(0.001) tolerated(0.33) neutral(0.024) NULL MLL4 9757 genome.wustl.edu 37 19 36222961 36222961 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014727.1 +1 reviewed p.R1864* 1.000 40 0% 85 28.2% 23 39.1% - - - NULL IGFLR1 79713 genome.wustl.edu 37 19 36230495 36230495 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024660.2 -1 provisional p.R252C 0.950 22 0% 56 44.6% 76 15.7% probably_damaging(0.986) deleterious(0.04) deleterious(0.783) NULL ENSG00000247203 0 genome.wustl.edu 37 19 36244173 36244173 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000501632 -1 novel NULL 0.000 26 0% 37 29.7% 4 75% - - - - NPHS1 4868 genome.wustl.edu 37 19 36341869 36341869 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004646.3 -1 reviewed p.L174I 0.628 45 0% 85 30.6% 0 - benign(0) tolerated(0.44) neutral(0.013) HMMPfam_C2-set_2,superfamily_Immunoglobulin KIRREL2 84063 genome.wustl.edu 37 19 36351207 36351207 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199180.2 +1 validated p.E228K 0.998 52 0% 109 31.2% 0 - benign(0) tolerated(1) - HMMPfam_I-set,superfamily_Immunoglobulin APLP1 333 genome.wustl.edu 37 19 36370282 36370282 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024807.1 +1 reviewed p.R632H 0.978 93 0% 135 28.9% 112 43.7% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_APP_amyloid ALKBH6 84964 genome.wustl.edu 37 19 36503959 36503959 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032878.3 -1 validated p.F57L 1.000 152 0% 234 37.6% 23 34.7% - - - NULL ZNF146 7705 genome.wustl.edu 37 19 36727465 36727465 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099638.1 +1 validated p.E41D 1.000 88 0% 100 33% 50 28% benign(0.207) deleterious(0.03) neutral(0.385) superfamily_C2H2 and C2HC zinc fingers ZNF146 7705 genome.wustl.edu 37 19 36727547 36727547 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099638.1 +1 validated p.E69K 1.000 110 0% 86 27.9% 69 53.6% benign(0) tolerated(0.07) neutral(0.319) superfamily_C2H2 and C2HC zinc fingers ZNF146 7705 genome.wustl.edu 37 19 36727979 36727979 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099638.1 +1 validated p.E213K 0.994 173 0% 179 27.4% 89 49.4% benign(0.002) tolerated(0.45) neutral(0.012) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC644189 644189 genome.wustl.edu 37 19 36913483 36913483 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_016949.3 +1 model NULL 0.753 70 0% 95 30.5% 0 - - - - - ZNF260 339324 genome.wustl.edu 37 19 37005188 37005188 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012756.2 -1 validated p.S318* 0.001 185 0% 164 31.1% 14 14.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF461 92283 genome.wustl.edu 37 19 37130229 37130229 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153257.2 -1 validated p.R340C 0.003 173 0% 91 26.4% 8 75% benign(0.022) tolerated(0.32) neutral(0.025) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF461 92283 genome.wustl.edu 37 19 37130607 37130607 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153257.2 -1 validated p.H214N 0.037 167 0% 97 40.2% 6 33.3% benign(0.001) deleterious(0) neutral(0.445) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF567 163081 genome.wustl.edu 37 19 37210696 37210696 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152603.2 +1 provisional p.R326I 0.998 83 0% 44 27.3% 10 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF567 163081 genome.wustl.edu 37 19 37211050 37211050 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152603.2 +1 provisional p.K444I 1.000 93 0% 64 28.1% 13 30.7% probably_damaging(0.973) deleterious(0) deleterious(0.859) superfamily_SSF57667 ZNF790 388536 genome.wustl.edu 37 19 37310341 37310341 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_206894.2 -1 validated p.R302I 0.963 71 0% 53 32.1% 3 33.3% possibly_damaging(0.78) tolerated(0.09) deleterious(0.588) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF345 25850 genome.wustl.edu 37 19 37368061 37368061 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003419.3 +1 provisional p.R110I 1.000 144 0% 69 33.3% 6 83.3% benign(0.023) deleterious(0) neutral(0.446) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF345 25850 genome.wustl.edu 37 19 37368703 37368703 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003419.3 +1 provisional p.R324I 0.636 114 0% 90 33.3% 10 40% benign(0.008) tolerated(0.28) neutral(0.032) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF568 374900 genome.wustl.edu 37 19 37441104 37441104 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198539.2 +1 validated p.I350T 0.053 98 0% 83 12% 8 25% benign(0.003) tolerated(0.31) neutral(0.027) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF568 374900 genome.wustl.edu 37 19 37441526 37441526 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198539.2 +1 validated p.R491* 0.000 95 0% 64 31.2% 4 25% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF420 147923 genome.wustl.edu 37 19 37619513 37619513 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144689.3 +1 provisional p.F540 0.566 111 0% 65 16.9% 14 14.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF420 147923 genome.wustl.edu 37 19 37619881 37619881 + Missense_Mutation SNP G G T rs140027212 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144689.3 +1 provisional p.R663I 1.000 124 0% 61 21.3% 6 16.6% possibly_damaging(0.904) tolerated(0.17) neutral(0.417) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585A 199704 genome.wustl.edu 37 19 37643575 37643575 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152655.2 -1 validated p.S354L 0.176 163 0.6% 103 20.4% 1 0% benign(0) tolerated(0.07) neutral(0.319) superfamily_C2H2 and C2HC zinc fingers ZNF585B 92285 genome.wustl.edu 37 19 37676469 37676469 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152279.3 -1 validated p.T657N 0.999 161 0% 71 25.4% 3 66.6% possibly_damaging(0.886) deleterious(0.02) deleterious(0.730) superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37676898 37676898 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152279.3 -1 validated p.R514K 0.991 179 0% 110 11.8% 7 28.5% benign(0.422) tolerated(0.1) neutral(0.423) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37677386 37677386 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152279.3 -1 validated p.E351D 1.000 232 0% 113 32.7% 2 0% possibly_damaging(0.576) deleterious(0.04) deleterious(0.546) superfamily_SSF57667 ZNF383 163087 genome.wustl.edu 37 19 37733430 37733430 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152604.1 +1 provisional p.E98* 1.000 74 0% 54 24.1% 8 12.5% - - - NULL ZNF569 148266 genome.wustl.edu 37 19 37903536 37903536 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152484.2 -1 validated p.S675L 0.034 102 0% 83 34.9% 6 33.3% possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF569 148266 genome.wustl.edu 37 19 37905206 37905206 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152484.2 -1 validated p.K118N 0.000 118 0% 86 32.6% 1 100% benign(0.071) tolerated(0.49) neutral(0.015) NULL ZNF570 148268 genome.wustl.edu 37 19 37975523 37975523 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144694.1 +1 provisional p.I333 0.000 115 0% 63 46% 7 28.5% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF540 163255 genome.wustl.edu 37 19 38102669 38102669 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152606.3 +1 validated p.R163I 0.038 73 0% 51 41.2% 1 0% possibly_damaging(0.598) tolerated(0.22) neutral(0.249) NULL ZNF540 163255 genome.wustl.edu 37 19 38103053 38103053 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152606.3 +1 validated p.R291I 0.989 66 0% 40 37.5% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP30 22835 genome.wustl.edu 37 19 38126687 38126687 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014898.2 -1 validated p.R252I 0.000 148 0% 109 11% 5 40% probably_damaging(0.999) tolerated(0.34) deleterious(0.513) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF781 163115 genome.wustl.edu 37 19 38160221 38160221 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152605.3 -1 validated p.E277* 0.970 188 0% 123 39% 0 - - - - NULL ZNF781 163115 genome.wustl.edu 37 19 38160314 38160314 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152605.3 -1 validated p.D246Y 0.000 130 0% 118 24.6% 2 100% probably_damaging(0.997) tolerated(0.11) deleterious(0.738) NULL ZNF573 126231 genome.wustl.edu 37 19 38229625 38229625 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152360.3 -1 validated p.K531T 0.848 153 0% 59 11.9% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 WDR87 83889 genome.wustl.edu 37 19 38375841 38375841 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031951.3 -1 provisional p.E2785* 0.022 54 0% 25 32% 0 - - - - NULL WDR87 83889 genome.wustl.edu 37 19 38379402 38379402 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031951.3 -1 provisional p.E1598K 0.837 339 0% 289 31.8% 0 - probably_damaging(0.967) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38385931 38385931 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031951.3 -1 provisional p.R99W 0.994 125 0% 99 12.1% 0 - benign(0.312) - - superfamily_WD40 repeat-like CATSPERG 57828 genome.wustl.edu 37 19 38858147 38858147 + Splice_Site SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021185.4 +1 validated e23-2 0.674 324 0% 479 29.4% 0 - - - - - FAM98C 147965 genome.wustl.edu 37 19 38895721 38895721 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174905.3 +1 validated p.A175T 0.940 45 0% 60 35% 39 48.7% probably_damaging(0.999) tolerated(0.31) deleterious(0.517) HMMPfam_DUF2465 RYR1 6261 genome.wustl.edu 37 19 38931452 38931452 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.A38D 0.875 12 0% 19 26.3% 0 - benign(0.268) - - HMMPfam_Ins145_P3_rec RYR1 6261 genome.wustl.edu 37 19 38965976 38965976 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.K1393N 1.000 31 0% 80 41.2% 0 - benign(0.24) - - NULL RYR1 6261 genome.wustl.edu 37 19 38979835 38979835 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.D1856N 0.989 107 0% 236 26.7% 2 0% benign(0.092) - - NULL RYR1 6261 genome.wustl.edu 37 19 38979900 38979900 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.E1877D 0.960 124 0% 216 33.8% 2 100% possibly_damaging(0.649) - - NULL RYR1 6261 genome.wustl.edu 37 19 38981285 38981285 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.D2014Y 0.994 106 0% 195 32.8% 0 - possibly_damaging(0.739) - - NULL RYR1 6261 genome.wustl.edu 37 19 38991310 38991310 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.L2463S 1.000 30 0% 59 23.7% 0 - probably_damaging(0.975) - - NULL RYR1 6261 genome.wustl.edu 37 19 38991552 38991552 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.I2512 0.676 51 0% 96 27.1% 0 - - - - NULL RYR1 6261 genome.wustl.edu 37 19 38994992 38994992 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.A2687S 1.000 97 0% 200 32.5% 0 - benign(0.027) - - NULL RYR1 6261 genome.wustl.edu 37 19 39001403 39001403 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.E3035G 1.000 126 0% 194 37.1% 0 - probably_damaging(0.999) - - NULL RYR1 6261 genome.wustl.edu 37 19 39051813 39051813 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.E4115K 1.000 26 0% 57 12.3% 0 - probably_damaging(0.982) - - superfamily_EF-hand RYR1 6261 genome.wustl.edu 37 19 39075642 39075642 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.I4902 0.820 246 0% 371 24% 2 0% - - - HMMPfam_Ion_trans RYR1 6261 genome.wustl.edu 37 19 39077996 39077996 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000540.2 +1 reviewed p.R5018I 1.000 105 0% 180 30% 4 0% unknown(0) - - NULL EIF3K 27335 genome.wustl.edu 37 19 39116687 39116687 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013234.2 +1 validated p.R100Q 1.000 104 0% 134 31.3% 552 38.4% possibly_damaging(0.47) tolerated(0.62) neutral(0.159) HMMPfam_SAC3_GANP,superfamily_ARM repeat IL28B 282617 genome.wustl.edu 37 19 39734508 39734508 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172139.2 -1 reviewed p.R150C 0.369 89 0% 117 36.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IL28A 282616 genome.wustl.edu 37 19 39759834 39759834 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172138.1 +1 reviewed p.L79I 0.342 58 0% 104 27.9% 0 - benign(0.008) tolerated(0.08) neutral(0.300) NULL PAF1 54623 genome.wustl.edu 37 19 39879245 39879245 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019088.2 -1 provisional p.R271Q 1.000 272 0% 408 30.1% 92 50% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) HMMPfam_Paf1 PLEKHG2 64857 genome.wustl.edu 37 19 39909596 39909596 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022835.2 +1 validated p.L406I 1.000 57 0% 92 39.1% 4 0% possibly_damaging(0.796) tolerated(0.18) neutral(0.355) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like RPS16 6217 genome.wustl.edu 37 19 39924389 39924389 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001020.4 -1 reviewed p.V55I 1.000 75 0% 136 25.7% 4324 36.9% benign(0) tolerated(0.79) neutral(0.001) HMMPfam_Ribosomal_S9,superfamily_Ribosomal protein S5 domain 2-like SUPT5H 6829 genome.wustl.edu 37 19 39964892 39964892 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001111020.2 +1 validated p.F890L 1.000 171 0% 275 34.9% 161 40.3% benign(0.177) tolerated(0.47) neutral(0.028) NULL LGALS13 29124 genome.wustl.edu 37 19 40097886 40097886 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013268.2 +1 reviewed p.I109M 0.001 139 0% 106 27.4% 0 - possibly_damaging(0.848) deleterious(0.05) deleterious(0.671) HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases LGALS14 56891 genome.wustl.edu 37 19 40197270 40197270 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203471.1 +1 reviewed p.G46C 0.008 101 0% 56 35.7% 0 - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_Gal-bind_lectin,HMMSmart_GLECT,superfamily_ConA_like_lec_gl DYRK1B 9149 genome.wustl.edu 37 19 40321165 40321165 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004714.1 -1 reviewed p.A74 0.384 81 0% 129 31% 51 47% - - - NULL FCGBP 8857 genome.wustl.edu 37 19 40354344 40354344 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003890.2 -1 validated p.F5375L 1.000 143 0% 142 28.9% 21 47.6% probably_damaging(0.97) tolerated(0.06) deleterious(0.735) HMMPfam_VWD,HMMSmart_VWD LOC100289588 100289588 genome.wustl.edu 37 19 40362776 40362776 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343681.1 +1 model p.R82C 0.000 6 0.000 25 0.360 21 33.3% - - - NULL FCGBP 8857 genome.wustl.edu 37 19 40368749 40368749 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003890.2 -1 validated p.R4200Q 0.130 152 0% 289 21.8% 18 66.6% unknown(0) tolerated(0.39) - HMMPfam_VWD,HMMSmart_VWD PSMC4 5704 genome.wustl.edu 37 19 40478338 40478338 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006503.2 +1 reviewed p.K66N 1.000 76 0% 105 34.3% 89 46% benign(0.058) deleterious(0) neutral(0.448) NULL ZNF546 339327 genome.wustl.edu 37 19 40520025 40520025 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178544.3 +1 validated p.R283I 0.165 165 0% 78 28.2% 0 - possibly_damaging(0.85) tolerated(0.49) neutral(0.338) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF546 339327 genome.wustl.edu 37 19 40520174 40520174 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178544.3 +1 validated p.E333* 0.339 150 0% 72 31.9% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF546 339327 genome.wustl.edu 37 19 40520930 40520930 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178544.3 +1 validated p.E585* 0.467 82 0% 32 34.4% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF780A 284323 genome.wustl.edu 37 19 40580618 40580618 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142577.1 -1 validated p.K578N 0.991 184 0% 109 14.7% 8 12.5% benign(0.153) tolerated(0.26) neutral(0.048) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40580734 40580734 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142577.1 -1 validated p.R540C 0.000 151 0% 85 31.8% 3 66.6% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAP3K10 4294 genome.wustl.edu 37 19 40710395 40710395 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002446.3 +1 reviewed p.F289 0.998 31 0% 37 35.1% 7 14.2% - - - superfamily_Kinase_like,HMMPfam_Pkinase HIPK4 147746 genome.wustl.edu 37 19 40889827 40889827 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144685.3 -1 provisional p.E229K 0.996 84 1.2% 132 31.8% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HIPK4 147746 genome.wustl.edu 37 19 40895651 40895651 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144685.3 -1 provisional p.K53N 1.000 72 0% 140 26.4% 0 - probably_damaging(0.959) tolerated(0.2) neutral(0.452) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PRX 57716 genome.wustl.edu 37 19 40901778 40901778 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181882.2 -1 reviewed p.V827 0.000 74 0% 129 38.8% 4 75% - - - NULL PRX 57716 genome.wustl.edu 37 19 40903149 40903149 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181882.2 -1 reviewed p.K370N 1.000 19 0% 40 40% 1 100% probably_damaging(0.995) tolerated(0.11) deleterious(0.729) NULL SERTAD3 29946 genome.wustl.edu 37 19 40947449 40947449 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013368.3 -1 reviewed p.S180Y 0.040 111 0% 199 30.7% 20 40% possibly_damaging(0.449) deleterious(0.01) deleterious(0.552) NULL SPTBN4 57731 genome.wustl.edu 37 19 41009850 41009850 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020971.2 +1 reviewed p.A492 0.954 39 0% 68 22.1% 3 66.6% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN4 57731 genome.wustl.edu 37 19 41072126 41072126 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020971.2 +1 reviewed p.A2066V 1.000 21 0% 76 35.5% 4 75% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat EGLN2 112398 genome.wustl.edu 37 19 41312511 41312511 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053046.2 +1 reviewed p.D299Y 1.000 70 0% 128 34.4% 215 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 CYP2B6 1555 genome.wustl.edu 37 19 41518311 41518311 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000767.4 +1 reviewed p.R358I 1.000 119 0% 108 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 AXL 558 genome.wustl.edu 37 19 41745079 41745079 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021913.3 +1 reviewed p.D382G 0.980 73 0% 101 36.6% 7 0% possibly_damaging(0.46) tolerated(0.23) neutral(0.193) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III AXL 558 genome.wustl.edu 37 19 41763475 41763475 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021913.3 +1 reviewed p.I758M 1.000 60 0% 88 26.1% 9 0% probably_damaging(0.998) tolerated(0.29) deleterious(0.503) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HNRNPUL1 11100 genome.wustl.edu 37 19 41798347 41798347 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007040.3 +1 reviewed p.F399L 1.000 140 0% 124 33.1% 373 46.3% benign(0.011) tolerated(0.56) neutral(0.007) NULL TGFB1 7040 genome.wustl.edu 37 19 41850691 41850691 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000660.4 -1 reviewed p.D199Y 1.000 57 0% 93 29% 79 1.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TGFb_propeptide TMEM91 641649 genome.wustl.edu 37 19 41884239 41884239 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098821.1 +1 validated p.L9I 0.109 51 0% 91 36.3% 10 20% possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL CEACAM4 1089 genome.wustl.edu 37 19 42132206 42132206 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001817.2 -1 validated p.Y65D 0.003 145 0% 112 33.9% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CEACAM6 4680 genome.wustl.edu 37 19 42265297 42265297 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002483.4 +1 validated p.P189S 0.004 165 0% 197 32% 1 0% benign(0.002) tolerated(0.31) neutral(0.027) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin DMRTC2 63946 genome.wustl.edu 37 19 42351574 42351574 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040283.1 +1 validated p.Q26H 0.974 34 0% 44 22.7% 0 - possibly_damaging(0.809) tolerated(0.14) deleterious(0.554) NULL ATP1A3 478 genome.wustl.edu 37 19 42470978 42470978 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000441343 -1 known p.P1146S 0.854 44 0% 68 30.9% 1 0% unknown(0) - - NULL ATP1A3 478 genome.wustl.edu 37 19 42471139 42471139 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000441343 -1 known p.S1092Y 0.761 111 0% 215 40% 0 - unknown(0) - - NULL ATP1A3 478 genome.wustl.edu 37 19 42471415 42471415 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152296.3 -1 reviewed p.R1000H 1.000 39 0% 55 27.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81665 GRIK5 2901 genome.wustl.edu 37 19 42526170 42526170 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002088.3 -1 reviewed p.F542L 1.000 107 0% 106 30.2% 0 - possibly_damaging(0.625) tolerated(1) neutral(0.218) HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II POU2F2 5452 genome.wustl.edu 37 19 42626525 42626525 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002698.2 -1 validated p.E34K 0.996 193 0% 275 30.9% 4 0% benign(0.003) deleterious(0) neutral(0.445) NULL MEGF8 1954 genome.wustl.edu 37 19 42840323 42840323 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001410.2 +1 validated p.D357N 1.000 126 0% 216 31.5% 7 28.5% probably_damaging(0.999) tolerated(0.59) deleterious(0.495) superfamily_Gal_oxid_central MEGF8 1954 genome.wustl.edu 37 19 42874479 42874479 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001410.2 +1 validated p.E2258K 1.000 51 0% 136 16.9% 24 37.5% benign(0.242) tolerated(0.3) neutral(0.053) NULL LIPE 3991 genome.wustl.edu 37 19 42907110 42907110 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005357.2 -1 reviewed p.K872N 0.876 36 0% 89 31.5% 12 41.6% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases LIPE 3991 genome.wustl.edu 37 19 42911501 42911501 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005357.2 -1 reviewed p.G654 0.998 36 0% 43 20.9% 9 22.2% - - - PatternScan_LIPASE_GDXG_HIS,HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases PSG3 5671 genome.wustl.edu 37 19 43233351 43233351 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021016.3 -1 validated p.S389 0.001 261 0% 119 33.6% 0 - - - - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 PSG8 440533 genome.wustl.edu 37 19 43258479 43258479 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182707.2 -1 validated p.R417W 0.003 246 0% 135 31.9% 0 - benign(0) tolerated(0.17) neutral(0.059) NULL PSG7 5676 genome.wustl.edu 37 19 43430673 43430673 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002783.2 -1 reviewed p.R302I 0.255 265 0.4% 154 29.9% 0 - possibly_damaging(0.833) tolerated(0.4) neutral(0.334) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSG7 5676 genome.wustl.edu 37 19 43430782 43430782 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002783.2 -1 reviewed p.S266R 0.001 301 0% 256 23% 0 - probably_damaging(0.961) deleterious(0.05) deleterious(0.750) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSG7 5676 genome.wustl.edu 37 19 43439685 43439685 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002783.2 -1 reviewed p.V101L 0.010 373 0% 197 33.5% 0 - benign(0.022) tolerated(0.45) neutral(0.013) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PSG11 5680 genome.wustl.edu 37 19 43528850 43528850 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002785.2 -1 validated p.T141 0.225 254 0% 182 28% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin PSG2 5670 genome.wustl.edu 37 19 43575983 43575983 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031246.2 -1 validated p.K278T 0.000 275 0% 163 33.1% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 PHLDB3 653583 genome.wustl.edu 37 19 43983532 43983532 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198850.3 -1 validated p.A567T 0.597 18 0% 39 30.8% 8 50% benign(0) tolerated(0.06) neutral(0.323) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SRRM5 100170229 genome.wustl.edu 37 19 44117635 44117635 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145641.1 +1 validated p.S454 0.000 140 1.4% 207 32.9% 6 50% - - - NULL ZNF283 284349 genome.wustl.edu 37 19 44351796 44351796 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181845.1 +1 validated p.K348T 0.086 144 0% 119 28.6% 2 0% probably_damaging(0.96) deleterious(0.03) deleterious(0.768) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF404 342908 genome.wustl.edu 37 19 44376906 44376906 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033719.2 -1 validated p.R487I 1.000 113 0% 87 28.7% 1 100% probably_damaging(0.993) tolerated(0.07) deleterious(0.769) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF404 342908 genome.wustl.edu 37 19 44378010 44378010 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001033719.2 -1 validated p.P119H 0.312 143 0% 134 31.3% 0 - benign(0.09) tolerated(0.27) neutral(0.040) superfamily_C2H2 and C2HC zinc fingers ZNF155 7711 genome.wustl.edu 37 19 44500533 44500533 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003445.2 +1 validated p.S175Y 0.366 162 0% 79 36.7% 7 42.8% possibly_damaging(0.936) tolerated(0.44) neutral(0.394) superfamily_C2H2 and C2HC zinc fingers ZNF230 7773 genome.wustl.edu 37 19 44514614 44514614 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006300.3 +1 validated p.Q141H 0.002 147 0% 72 25% 3 33.3% possibly_damaging(0.819) tolerated(0.5) neutral(0.320) superfamily_SSF57667 ZNF223 7766 genome.wustl.edu 37 19 44570346 44570346 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013361.4 +1 validated p.S122Y 0.031 83 0% 51 31.4% 0 - probably_damaging(0.964) tolerated(1) neutral(0.406) NULL ZNF284 342909 genome.wustl.edu 37 19 44591139 44591139 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037813.2 +1 provisional p.R503I 0.016 103 1.9% 95 29.5% 0 - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF226 7769 genome.wustl.edu 37 19 44681766 44681766 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001032372.1 +1 validated p.K784T 0.188 113 0% 103 29.1% 8 0% possibly_damaging(0.78) tolerated(0.06) deleterious(0.614) superfamily_SSF57667 ZNF229 7772 genome.wustl.edu 37 19 44932509 44932509 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014518.2 -1 validated p.R816I 0.358 108 0% 74 44.6% 0 - probably_damaging(0.956) tolerated(0.16) neutral(0.459) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF229 7772 genome.wustl.edu 37 19 44932929 44932929 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014518.2 -1 validated p.R676Q 0.110 167 0% 79 20.3% 1 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF229 7772 genome.wustl.edu 37 19 44933584 44933584 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014518.2 -1 validated p.E458* 0.997 103 0% 47 31.9% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44980965 44980965 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013256.3 -1 validated p.E578A 0.952 192 0% 238 33.2% 7 42.8% possibly_damaging(0.54) tolerated(0.06) deleterious(0.506) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44981244 44981244 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013256.3 -1 validated p.R485I 1.000 137 0% 195 28.2% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PVRL2 5819 genome.wustl.edu 37 19 45368654 45368654 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042724.1 +1 reviewed p.R72H 0.398 38 0% 55 27.3% 148 40.5% benign(0.028) tolerated(0.24) neutral(0.039) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin TOMM40 10452 genome.wustl.edu 37 19 45406387 45406387 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128916.1 +1 validated p.K349N 1.000 55 0% 104 34.6% 192 43.2% probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_Porin_3 ZNF296 162979 genome.wustl.edu 37 19 45575703 45575703 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145288.1 -1 provisional p.P195L 0.994 24 0% 28 39.3% 3 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ERCC1 2067 genome.wustl.edu 37 19 45922416 45922416 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_202001.2 -1 reviewed p.G155 0.906 100 0% 182 33.5% 52 34.6% - - - HMMPfam_Rad10 FOSB 2354 genome.wustl.edu 37 19 45974503 45974503 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006732.2 +1 reviewed p.L167fs 1.000 - - - - - - - - - HMMSmart_SM00338,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 RTN2 6253 genome.wustl.edu 37 19 45997558 45997558 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005619.3 -1 reviewed p.S227L 0.966 105 0% 201 33.3% 1 100% benign(0) tolerated(0.45) neutral(0.012) NULL PPM1N 147699 genome.wustl.edu 37 19 46005330 46005330 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080401.1 +1 provisional p.D427G 0.005 77 0% 135 36.3% 0 - possibly_damaging(0.936) - - NULL GPR4 2828 genome.wustl.edu 37 19 46094117 46094117 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005282.2 -1 validated p.K336N 0.003 95 0% 172 32.6% 7 0% benign(0.001) deleterious(0.02) neutral(0.383) NULL GIPR 2696 genome.wustl.edu 37 19 46177957 46177957 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000164.2 +1 validated p.R169I 0.990 70 0% 134 25.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2 DMWD 1762 genome.wustl.edu 37 19 46289884 46289884 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004943.1 -1 validated p.F290 0.772 24 0% 58 22.4% 26 46.1% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 SYMPK 8189 genome.wustl.edu 37 19 46326690 46326690 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004819.2 -1 reviewed p.L880 0.972 63 0% 60 13.3% 74 6.7% - - - superfamily_ARM repeat IGFL4 444882 genome.wustl.edu 37 19 46543156 46543156 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001002923.1 -1 provisional p.L123 0.011 169 0.6% 179 22.9% 0 - - - - NULL PPP5C 5536 genome.wustl.edu 37 19 46850470 46850470 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006247.2 +1 provisional p.F39L 1.000 24 0% 34 35.3% 53 32% benign(0.065) tolerated(0.28) neutral(0.036) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like CCDC8 83987 genome.wustl.edu 37 19 46914828 46914828 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032040.3 -1 validated p.D414N 0.000 203 0% 312 31.1% 11 27.2% unknown(0) tolerated(1) - NULL PTGIR 5739 genome.wustl.edu 37 19 47124858 47124858 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000960.3 -1 reviewed p.F280L 0.954 6 0.000 13 0.308 6 16.6% possibly_damaging(0.833) deleterious(0.02) deleterious(0.701) HMMPfam_7tm_1,superfamily_SSF81321 DACT3 147906 genome.wustl.edu 37 19 47151910 47151910 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145056.2 -1 validated p.L573 0.997 20 0% 29 55.2% 2 0% - - - NULL ARHGAP35 2909 genome.wustl.edu 37 19 47424921 47424921 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004491.4 +1 reviewed p.R997* 1.000 54 0% 39 30.8% 5 40% - - - NULL ARHGAP35 2909 genome.wustl.edu 37 19 47503717 47503717 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004491.4 +1 reviewed p.I1424 1.000 167 0% 287 32.1% 16 25% - - - HMMSmart_SM00324,superfamily_GTPase activation domain GAP NPAS1 4861 genome.wustl.edu 37 19 47548520 47548520 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002517.2 +1 reviewed p.R462C 0.019 18 0% 35 42.9% 1 0% benign(0.001) deleterious(0) neutral(0.445) NULL MEIS3 56917 genome.wustl.edu 37 19 47912789 47912789 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020160.1 -1 validated p.R205* 0.979 49 0% 118 30.5% 3 0% - - - NULL SLC8A2 6543 genome.wustl.edu 37 19 47969196 47969196 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015063.2 -1 validated p.F155 1.000 25 0% 42 40.5% 0 - - - - HMMPfam_Na_Ca_ex ZNF541 84215 genome.wustl.edu 37 19 48058989 48058989 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101419.1 -1 validated p.R42Q 0.008 62 0% 61 32.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SULT2A1 6822 genome.wustl.edu 37 19 48382311 48382311 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003167.3 -1 reviewed p.S183 0.012 85 0% 72 37.5% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases SULT2A1 6822 genome.wustl.edu 37 19 48386856 48386856 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003167.3 -1 reviewed p.S108Y 0.963 136 0% 119 18.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases SULT2A1 6822 genome.wustl.edu 37 19 48387019 48387019 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003167.3 -1 reviewed p.L54I 0.289 94 0% 73 39.7% 0 - benign(0.001) tolerated(0.21) neutral(0.044) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases SULT2A1 6822 genome.wustl.edu 37 19 48389494 48389494 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003167.3 -1 reviewed p.W7C 0.023 135 0% 86 24.4% 0 - benign(0.034) tolerated(0.12) neutral(0.263) superfamily_P-loop containing nucleoside triphosphate hydrolases BSPH1 100131137 genome.wustl.edu 37 19 48495307 48495307 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128326.2 -1 validated p.T11M 0.007 79 0% 85 31.8% 0 - probably_damaging(0.999) - - NULL PLA2G4C 8605 genome.wustl.edu 37 19 48558146 48558146 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003706.2 -1 reviewed p.D473G 0.000 91 0% 62 22.6% 6 0% possibly_damaging(0.84) tolerated(0.08) deleterious(0.621) HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase CCDC114 93233 genome.wustl.edu 37 19 48809517 48809517 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144577.3 -1 validated p.V184I 0.150 140 0% 202 29.2% 0 - benign(0.301) deleterious(0.02) deleterious(0.476) NULL TMEM143 55260 genome.wustl.edu 37 19 48836659 48836659 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018273.2 -1 provisional p.E399D 0.994 51 0% 65 40% 5 40% benign(0.425) deleterious(0.03) deleterious(0.502) NULL SYNGR4 23546 genome.wustl.edu 37 19 48878882 48878882 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012451.2 +1 reviewed p.V115G 0.003 94 0% 121 21.5% 0 - benign(0) tolerated(0.34) neutral(0.023) HMMPfam_MARVEL KCNJ14 3770 genome.wustl.edu 37 19 48967755 48967755 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013348.2 +1 reviewed p.V344 0.413 91 0% 142 29.6% 6 50% - - - HMMPfam_IRK,superfamily_Ig_E-set SULT2B1 6820 genome.wustl.edu 37 19 49096070 49096070 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_177973.1 +1 reviewed p.Q214 0.532 45 0% 83 34.9% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases TULP2 7288 genome.wustl.edu 37 19 49398408 49398408 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003323.2 -1 validated p.L121I 0.014 62 0% 104 25% 0 - possibly_damaging(0.901) tolerated(0.46) neutral(0.369) NULL GYS1 2997 genome.wustl.edu 37 19 49481234 49481234 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002103.4 -1 reviewed p.M419V 1.000 96 0% 109 36.7% 65 47.6% benign(0.002) deleterious(0.01) neutral(0.406) HMMPfam_Glycogen_syn CGB1 114335 genome.wustl.edu 37 19 49539005 49539005 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033377.1 -1 reviewed p.L110 0.989 106 0% 128 21.9% 0 - - - - HMMSmart_GHB,HMMPfam_Cys_knot,PatternScan_GLYCO_HORMONE_BETA_2,superfamily_SSF57501 SLC6A16 28968 genome.wustl.edu 37 19 49812202 49812202 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014037.2 -1 validated p.V387A 0.001 70 0% 54 38.9% 1 0% benign(0.009) deleterious(0.01) neutral(0.406) HMMPfam_SNF SLC6A16 28968 genome.wustl.edu 37 19 49813760 49813760 + Silent SNP G G A rs192727407 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014037.2 -1 validated p.F141 0.062 61 0% 37 27% 4 25% - - - HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1 TEAD2 8463 genome.wustl.edu 37 19 49845785 49845785 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003598.1 -1 provisional p.C380 0.980 23 0% 82 36.6% 256 45.3% - - - HMMPfam_TEA FLT3LG 2323 genome.wustl.edu 37 19 49979037 49979037 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001459.2 +1 validated p.F41 0.624 73 0% 129 29.5% 11 45.4% - - - HMMPfam_Flt3_lig,superfamily_4-helical cytokines NOSIP 51070 genome.wustl.edu 37 19 50063267 50063267 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015953.3 -1 provisional p.R34* 1.000 82 0% 121 28.9% 87 3.4% - - - NULL PRR12 57479 genome.wustl.edu 37 19 50124860 50124860 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020719.1 +1 validated p.S1901L 1.000 42 0% 57 36.8% 78 39.7% probably_damaging(0.959) tolerated(0.19) neutral(0.452) NULL IRF3 3661 genome.wustl.edu 37 19 50165700 50165700 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001571.4 -1 validated p.L195M 0.000 80 0% 147 32.7% 40 35% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SMAD_FHA CPT1C 126129 genome.wustl.edu 37 19 50209519 50209519 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152359.1 +1 provisional p.K398E 0.002 40 0% 56 30.4% 2 0% possibly_damaging(0.637) deleterious(0.05) deleterious(0.569) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases TSKS 60385 genome.wustl.edu 37 19 50247577 50247577 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021733.1 -1 reviewed p.F424 0.996 50 0% 92 22.8% 0 - - - - NULL PNKP 11284 genome.wustl.edu 37 19 50368526 50368526 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007254.2 -1 provisional p.P119L 0.874 119 0% 238 27.7% 36 38.8% benign(0.037) tolerated(0.27) neutral(0.036) NULL SIGLEC16 400709 genome.wustl.edu 37 19 50473288 50473288 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000417280 +1 known p.T99I 0.000 59 0% 106 20.8% 0 - possibly_damaging(0.529) deleterious(0) deleterious(0.623) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF473 25888 genome.wustl.edu 37 19 50550117 50550117 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006656.1 +1 validated p.R806K 0.062 108 0% 72 31.9% 7 14.2% benign(0.018) tolerated(0.62) neutral(0.005) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers JOSD2 126119 genome.wustl.edu 37 19 51009668 51009668 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138334.2 -1 provisional p.A145V 0.001 15 0% 16 31.2% 42 16.6% possibly_damaging(0.647) tolerated(0.25) neutral(0.264) HMMPfam_Josephin JOSD2 126119 genome.wustl.edu 37 19 51013543 51013543 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138334.2 -1 provisional p.R49K 1.000 34 0% 72 37.5% 36 13.8% possibly_damaging(0.88) tolerated(0.4) neutral(0.359) HMMPfam_Josephin LRRC4B 94030 genome.wustl.edu 37 19 51021653 51021653 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080457.1 -1 provisional p.T439 0.999 15 0% 40 37.5% 2 50% - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 SHANK1 50944 genome.wustl.edu 37 19 51165336 51165336 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016148.2 -1 validated p.I2124 0.833 26 0% 73 27.4% 29 48.2% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain KLK4 9622 genome.wustl.edu 37 19 51411894 51411894 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004917.3 -1 reviewed p.S139L 0.002 56 0% 62 37.1% 1 100% possibly_damaging(0.736) deleterious(0.04) deleterious(0.618) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK5 25818 genome.wustl.edu 37 19 51452353 51452353 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077491.1 -1 reviewed p.L118 0.111 44 0% 46 26.1% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK6 5653 genome.wustl.edu 37 19 51462489 51462489 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000376853 -1 known p.R94K 0.998 316 0% 378 32.3% 0 - benign(0.001) deleterious(0.03) neutral(0.364) NULL KLK8 11202 genome.wustl.edu 37 19 51499464 51499464 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144505.1 -1 reviewed p.S257A 1.000 77 0% 61 11.5% 0 - possibly_damaging(0.909) - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_SER KLK8 11202 genome.wustl.edu 37 19 51503456 51503456 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144505.1 -1 reviewed p.E142* 0.098 201 0% 230 28.7% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys KLK13 26085 genome.wustl.edu 37 19 51561890 51561890 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015596.1 -1 reviewed p.R184C 0.950 155 0% 198 33.3% 1 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK13 26085 genome.wustl.edu 37 19 51563751 51563751 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015596.1 -1 reviewed p.L60F 0.994 65 0% 65 36.9% 0 - benign(0.001) tolerated(1) - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CD33 945 genome.wustl.edu 37 19 51728602 51728602 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001772.3 +1 validated p.V56F 0.001 63 0% 33 33.3% 1 0% possibly_damaging(0.493) deleterious(0.01) deleterious(0.570) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIGLEC10 89790 genome.wustl.edu 37 19 51919600 51919600 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033130.4 -1 validated p.D240Y 0.004 128 0% 160 25.6% 7 0% probably_damaging(0.986) deleterious(0.04) deleterious(0.783) NULL SIGLEC10 89790 genome.wustl.edu 37 19 51920436 51920436 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033130.4 -1 validated p.D107 0.001 81 0% 88 23.9% 4 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIGLEC8 27181 genome.wustl.edu 37 19 51960725 51960725 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014442.2 -1 validated p.L241 0.001 62 0% 41 24.4% 1 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin SIGLEC8 27181 genome.wustl.edu 37 19 51961269 51961269 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014442.2 -1 validated p.R125W 0.000 201 0% 242 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CEACAM18 729767 genome.wustl.edu 37 19 51986481 51986481 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080405.1 +1 provisional p.R356Q 0.002 71 0% 72 36.1% 0 - probably_damaging(0.983) tolerated(0.67) neutral(0.431) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin SIGLEC12 89858 genome.wustl.edu 37 19 52002805 52002805 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053003.2 -1 reviewed p.S325L 0.001 63 0% 56 32.1% 5 0% probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin SIGLEC6 946 genome.wustl.edu 37 19 52023371 52023371 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001245.5 -1 validated p.D443N 0.000 133 0% 56 30.4% 2 0% benign(0) tolerated(0.62) neutral(0.004) NULL SIGLEC6 946 genome.wustl.edu 37 19 52031431 52031431 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001245.5 -1 validated p.C363 0.054 116 0% 137 29.9% 0 - - - - NULL ZNF175 7728 genome.wustl.edu 37 19 52090900 52090900 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007147.2 +1 validated p.R439I 1.000 80 0% 60 36.7% 5 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF175 7728 genome.wustl.edu 37 19 52091320 52091320 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007147.2 +1 validated p.R579Q 0.997 114 0% 101 38.6% 4 25% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF577 84765 genome.wustl.edu 37 19 52376542 52376542 + Missense_Mutation SNP C C A rs9807847 byCluster;byFrequency TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032679.2 -1 validated p.R234I 0.821 161 0% 140 27.1% 8 37.5% possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF350 59348 genome.wustl.edu 37 19 52468609 52468609 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021632.3 -1 validated p.R366I 0.870 130 0% 71 29.6% 11 27.2% probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF615 284370 genome.wustl.edu 37 19 52496566 52496566 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198480.2 -1 provisional p.R588Q 0.930 151 0% 90 35.6% 20 20% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF615 284370 genome.wustl.edu 37 19 52496869 52496869 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198480.2 -1 provisional p.N487T 0.000 234 0.4% 162 32.7% 13 46.1% benign(0.022) tolerated(0.37) neutral(0.020) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF615 284370 genome.wustl.edu 37 19 52497425 52497425 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198480.2 -1 provisional p.R302W 0.000 146 0% 130 30% 6 33.3% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF614 80110 genome.wustl.edu 37 19 52520004 52520004 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025040.3 -1 validated p.E283K 0.032 131 0% 90 28.9% 3 33.3% benign(0) deleterious(0.04) neutral(0.349) superfamily_SSF57667 ZNF432 9668 genome.wustl.edu 37 19 52537148 52537148 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014650.2 -1 provisional p.K595I 1.000 123 0% 88 36.4% 6 0% possibly_damaging(0.861) deleterious(0) deleterious(0.778) superfamily_SSF57667 ZNF432 9668 genome.wustl.edu 37 19 52537654 52537654 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014650.2 -1 provisional p.E426D 1.000 120 0% 115 30.4% 5 60% benign(0.002) deleterious(0.01) neutral(0.406) superfamily_SSF57667 ZNF841 284371 genome.wustl.edu 37 19 52568393 52568393 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136499.1 -1 validated p.L914F 0.006 271 0% 248 26.2% 13 69.2% probably_damaging(0.981) tolerated(0.2) deleterious(0.474) NULL ZNF841 284371 genome.wustl.edu 37 19 52568865 52568865 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136499.1 -1 validated p.R757I 0.403 142 0% 104 33.7% 16 50% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52618543 52618543 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178523.3 -1 validated p.R625I 0.010 139 0% 68 36.8% 22 45.4% benign(0.044) tolerated(0.17) neutral(0.061) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52618666 52618666 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178523.3 -1 validated p.K584T 0.451 152 0% 92 28.3% 17 35.2% possibly_damaging(0.725) deleterious(0) deleterious(0.708) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52659131 52659131 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102657.1 -1 provisional p.R602I 0.001 135 0% 68 48.5% 6 16.6% probably_damaging(0.989) tolerated(0.16) deleterious(0.499) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52659467 52659467 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001102657.1 -1 provisional p.R490I 0.984 134 0% 80 31.2% 2 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF766 90321 genome.wustl.edu 37 19 52793573 52793573 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010851.2 +1 validated p.E177* 0.002 74 1.4% 81 35.8% 13 61.5% - - - superfamily_C2H2 and C2HC zinc fingers ZNF766 90321 genome.wustl.edu 37 19 52793753 52793753 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010851.2 +1 validated p.R237C 0.974 79 0% 96 30.2% 15 33.3% possibly_damaging(0.574) deleterious(0.01) deleterious(0.603) superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52825234 52825234 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144684.2 +1 validated p.S244L 0.000 64 0% 35 34.3% 6 16.6% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF528 84436 genome.wustl.edu 37 19 52909772 52909772 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032423.2 +1 validated p.I49 0.000 195 0% 141 21.3% 11 27.2% - - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF528 84436 genome.wustl.edu 37 19 52918725 52918725 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032423.2 +1 validated p.H207R 0.082 111 0% 76 22.4% 9 44.4% possibly_damaging(0.89) deleterious(0.01) deleterious(0.756) superfamily_C2H2 and C2HC zinc fingers ZNF528 84436 genome.wustl.edu 37 19 52919555 52919555 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032423.2 +1 validated p.H484N 0.003 76 0% 67 40.3% 9 44.4% possibly_damaging(0.624) deleterious(0.04) deleterious(0.567) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF534 147658 genome.wustl.edu 37 19 52937238 52937238 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143939.1 +1 validated p.E16* 0.997 213 0% 224 33% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF578 147660 genome.wustl.edu 37 19 53015310 53015310 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099694.1 +1 validated p.R559I 1.000 88 0% 54 24.1% 1 100% probably_damaging(0.991) tolerated(0.29) deleterious(0.473) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF808 388558 genome.wustl.edu 37 19 53056829 53056829 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039886.3 +1 validated p.Q220H 0.001 297 0% 175 20.6% 1 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) superfamily_C2H2 and C2HC zinc fingers ZNF83 55769 genome.wustl.edu 37 19 53117228 53117228 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105549.1 -1 validated p.R197I 0.000 112 0% 84 35.7% 31 51.6% benign(0.302) deleterious(0.05) neutral(0.439) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF83 55769 genome.wustl.edu 37 19 53164097 53164097 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_003936.1 -1 validated NULL 0.002 47 0% 20 45% 0 - - - - - ZNF611 81856 genome.wustl.edu 37 19 53209139 53209139 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030972.3 -1 validated p.R390I 0.999 103 0% 79 35.4% 3 33.3% possibly_damaging(0.701) tolerated(0.12) deleterious(0.512) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes,superfamily_C2H2 and C2HC zinc fingers ENSG00000245932 0 genome.wustl.edu 37 19 53302662 53302662 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000500436 +1 known NULL 0.003 80 0% 83 32.5% 9 55.5% - - - - LOC388559 388559 genome.wustl.edu 37 19 53410219 53410219 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_496322.5 -1 model p.N434 0.001 136 0% 116 11.2% 9 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF816 125893 genome.wustl.edu 37 19 53456095 53456095 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031665.1 -1 validated p.F33L 0.277 214 0% 262 27.1% 9 22.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF347 84671 genome.wustl.edu 37 19 53644760 53644760 + Missense_Mutation SNP G G A rs187812061 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032584.2 -1 validated p.R441C 0.000 165 0% 112 39.3% 12 50% benign(0.391) deleterious(0.05) deleterious(0.471) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF665 79788 genome.wustl.edu 37 19 53678789 53678789 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024733.3 -1 provisional p.F17L 0.998 252 0% 199 31.7% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) VN1R4 317703 genome.wustl.edu 37 19 53770562 53770562 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173857.2 -1 validated p.L119 0.156 151 0% 204 14.7% 0 - - - - HMMPfam_V1R,superfamily_Family A G protein-coupled receptor-like BIRC8 112401 genome.wustl.edu 37 19 53793183 53793183 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033341.3 -1 validated p.L149I 0.614 173 0% 271 28.8% 0 - probably_damaging(0.996) tolerated(0.3) deleterious(0.490) superfamily_Inhibitor of apoptosis (IAP) repeat ZNF845 91664 genome.wustl.edu 37 19 53855871 53855871 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138374.1 +1 validated p.S648* 0.004 102 0% 91 27.5% 6 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF845 91664 genome.wustl.edu 37 19 53855892 53855892 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138374.1 +1 validated p.R655I 0.006 104 0% 112 32.1% 3 66.6% probably_damaging(0.984) tolerated(0.42) neutral(0.445) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF845 91664 genome.wustl.edu 37 19 53856033 53856033 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138374.1 +1 validated p.R702Q 0.000 130 0% 189 31.7% 6 50% benign(0.363) tolerated(0.35) neutral(0.136) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF845 91664 genome.wustl.edu 37 19 53856816 53856816 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138374.1 +1 validated p.R963I 0.018 89 0% 102 25.5% 4 0% possibly_damaging(0.944) tolerated(0.22) neutral(0.430) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF765 91661 genome.wustl.edu 37 19 53911125 53911125 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040185.1 +1 provisional p.R106I 0.015 173 0% 95 25.3% 2 0% probably_damaging(0.961) tolerated(0.22) neutral(0.446) NULL ZNF765 91661 genome.wustl.edu 37 19 53911543 53911543 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040185.1 +1 provisional p.C245 0.008 155 0% 132 26.5% 3 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF761 388561 genome.wustl.edu 37 19 53959342 53959342 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008401.3 +1 validated p.C527 0.908 108 0% 105 25.7% 15 40% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes MIR520E 574461 genome.wustl.edu 37 19 54178966 54178966 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384867 +1 known NULL 0.006 80 0% 52 26.9% 0 - - - - - MIR518F 574472 genome.wustl.edu 37 19 54203316 54203316 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384973 +1 known NULL 0.005 120 0% 85 28.2% 0 - - - - - MIR517A 574479 genome.wustl.edu 37 19 54215569 54215569 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000385001 +1 known NULL 0.121 201 0% 180 23.9% 0 - - - - - MIR521-2 574481 genome.wustl.edu 37 19 54219849 54219849 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384818 +1 known NULL 0.005 150 0% 113 33.6% 0 - - - - - MIR518A1 574488 genome.wustl.edu 37 19 54234315 54234315 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000385068 +1 known NULL 0.008 98 0% 72 30.6% 0 - - - - - PRKCG 5582 genome.wustl.edu 37 19 54387447 54387447 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002739.3 +1 reviewed p.E79K 1.000 77 0% 151 34.4% 0 - benign(0.364) tolerated(0.22) neutral(0.158) HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 PRKCG 5582 genome.wustl.edu 37 19 54395836 54395836 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002739.3 +1 reviewed p.D254N 1.000 32 0% 47 42.6% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CACNG7 59284 genome.wustl.edu 37 19 54445360 54445360 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031896.3 +1 reviewed p.P214L 1.000 38 0% 61 29.5% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL LILRB3 11025 genome.wustl.edu 37 19 54721279 54721279 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001081450.1 -1 reviewed p.R554I 0.000 188 0% 332 34.6% 26 3.8% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL LILRA3 11026 genome.wustl.edu 37 19 54804201 54804201 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000391745 -1 known p.P8 0.000 211 0% 222 31.1% 1 0% - - - NULL LILRA4 23547 genome.wustl.edu 37 19 54845205 54845205 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012276.3 -1 reviewed p.K429N 0.000 218 0% 305 34.8% 1 0% benign(0) tolerated(0.19) neutral(0.050) NULL LENG8 114823 genome.wustl.edu 37 19 54967844 54967844 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052925.2 +1 validated p.R492Q 1.000 31 0% 19 42.1% 45 40% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) NULL LAIR2 3904 genome.wustl.edu 37 19 55019341 55019341 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002288.3 +1 reviewed p.L102 0.002 116 0% 127 22.8% 3 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin KIR2DL3 3804 genome.wustl.edu 37 19 55255406 55255406 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015868.2 +1 reviewed p.N178 0.000 331 0% 210 26.2% 1 0% - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCAR 2204 genome.wustl.edu 37 19 55399594 55399594 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002000.2 +1 reviewed p.Y194 0.002 74 0% 78 29.5% 0 - - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin NCR1 9437 genome.wustl.edu 37 19 55418039 55418039 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004829.5 +1 validated p.R77W 0.000 81 0% 138 33.3% 1 0% probably_damaging(0.997) tolerated(0.18) deleterious(0.522) HMMSmart_SM00409,superfamily_Immunoglobulin NLRP7 199713 genome.wustl.edu 37 19 55450294 55450294 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127255.1 -1 reviewed p.E631D 0.674 39 0% 95 18.9% 0 - benign(0.079) tolerated(0.28) neutral(0.037) superfamily_RNI-like NLRP7 199713 genome.wustl.edu 37 19 55450366 55450366 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127255.1 -1 reviewed p.C607 0.000 56 0% 126 26.2% 1 0% - - - NULL NLRP7 199713 genome.wustl.edu 37 19 55450758 55450758 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127255.1 -1 reviewed p.A477T 0.175 59 0% 98 26.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NLRP7 199713 genome.wustl.edu 37 19 55451447 55451447 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127255.1 -1 reviewed p.R247I 0.001 114 0% 164 11.6% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases GP6 51206 genome.wustl.edu 37 19 55543709 55543709 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001083899.1 -1 validated p.E41D 0.000 27 0% 53 28.3% 0 - benign(0) tolerated(0.05) neutral(0.345) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin PPP1R12C 54776 genome.wustl.edu 37 19 55604578 55604578 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017607.2 -1 provisional p.K569N 0.999 35 0% 80 30% 61 34.4% unknown(0) tolerated(0.08) - NULL PPP1R12C 54776 genome.wustl.edu 37 19 55606088 55606088 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017607.2 -1 provisional p.A511 0.064 79 0% 136 33.1% 58 50% - - - NULL PPP1R12C 54776 genome.wustl.edu 37 19 55614843 55614843 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017607.2 -1 provisional p.R222Q 1.000 15 0% 65 30.8% 40 42.5% benign(0.355) deleterious(0.03) deleterious(0.477) superfamily_Ankyrin repeat SUV420H2 84787 genome.wustl.edu 37 19 55853334 55853334 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032701.3 +1 validated p.E10 0.998 31 0% 41 26.8% 17 41.1% - - - NULL NLRP9 338321 genome.wustl.edu 37 19 56244346 56244346 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176820.2 -1 reviewed p.Y284S 0.000 73 0% 93 33.3% 0 - benign(0.013) tolerated(0.41) neutral(0.015) HMMPfam_NACHT NLRP9 338321 genome.wustl.edu 37 19 56244789 56244789 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176820.2 -1 reviewed p.N136K 0.000 109 0% 101 29.7% 0 - benign(0.031) tolerated(0.86) neutral(0.002) NULL RFPL4A 342931 genome.wustl.edu 37 19 56274480 56274480 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145014.1 +1 validated p.S268N 0.000 221 0% 147 21.1% 0 - benign(0.024) tolerated(0.19) neutral(0.051) HMMSmart_SPRY ENSG00000229292 0 genome.wustl.edu 37 19 56283302 56283302 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000341750 +1 known p.G44 0.005 139 0.7% 107 5.6% 0 - - - - superfamily_RING/U-box NLRP11 204801 genome.wustl.edu 37 19 56303739 56303739 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145007.3 -1 validated p.R814H 0.000 164 0% 117 27.4% 0 - benign(0) tolerated(0.22) neutral(0.042) superfamily_RNI-like NLRP4 147945 genome.wustl.edu 37 19 56369333 56369333 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_134444.4 +1 validated p.E192K 0.493 62 0% 33 18.2% 0 - possibly_damaging(0.851) deleterious(0.03) deleterious(0.692) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP4 147945 genome.wustl.edu 37 19 56369449 56369449 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_134444.4 +1 validated p.I230 0.387 82 0% 44 27.3% 0 - - - - HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP4 147945 genome.wustl.edu 37 19 56370237 56370237 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_134444.4 +1 validated p.R493K 0.000 261 0% 173 28.9% 0 - benign(0) tolerated(1) - NULL NLRP13 126204 genome.wustl.edu 37 19 56423802 56423802 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176810.2 -1 validated p.S461P 0.907 54 0% 33 27.3% 0 - probably_damaging(0.996) tolerated(0.27) deleterious(0.495) NULL NLRP8 126205 genome.wustl.edu 37 19 56467029 56467029 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176811.2 +1 provisional p.H535 0.000 157 0% 98 32.7% 0 - - - - NULL NLRP5 126206 genome.wustl.edu 37 19 56569737 56569737 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153447.4 +1 reviewed p.S1144L 0.001 127 0% 102 27.5% 0 - possibly_damaging(0.602) tolerated(0.11) deleterious(0.480) superfamily_SSF52047 ZSCAN5A 79149 genome.wustl.edu 37 19 56736076 56736076 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024303.1 -1 provisional p.D114Y 0.015 112 0% 115 20% 6 16.6% possibly_damaging(0.901) deleterious(0.03) deleterious(0.722) HMMPfam_SCAN,HMMSmart_SCAN ZNF582 147948 genome.wustl.edu 37 19 56895626 56895626 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144690.1 -1 provisional p.R387I 0.997 141 0% 115 27% 2 50% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF583 147949 genome.wustl.edu 37 19 56935478 56935478 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152478.2 +1 validated p.R484I 0.973 130 0% 63 25.4% 1 100% probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF583 147949 genome.wustl.edu 37 19 56935562 56935562 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152478.2 +1 validated p.R512I 0.615 128 0% 46 37% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF583 147949 genome.wustl.edu 37 19 56935646 56935646 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152478.2 +1 validated p.R540I 0.037 107 0% 65 43.1% 9 55.5% possibly_damaging(0.892) deleterious(0.01) deleterious(0.757) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF667 63934 genome.wustl.edu 37 19 56953299 56953299 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022103.3 -1 validated p.E355D 0.897 208 0% 89 33.7% 4 0% benign(0) deleterious(0.01) neutral(0.406) superfamily_C2H2 and C2HC zinc fingers ZNF471 57573 genome.wustl.edu 37 19 57035869 57035869 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020813.2 +1 validated p.E145* 0.098 103 0% 81 59.3% 3 100% - - - NULL ZNF470 388566 genome.wustl.edu 37 19 57089803 57089803 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001668.3 +1 validated p.R669I 0.655 165 0% 115 27.8% 4 0% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 USP29 57663 genome.wustl.edu 37 19 57640638 57640638 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020903.2 +1 validated p.S199P 0.000 64 0% 58 12.1% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL USP29 57663 genome.wustl.edu 37 19 57641296 57641296 + Missense_Mutation SNP A A C rs34233382 byCluster;byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020903.2 +1 validated p.K418T 0.001 154 0% 122 35.2% 0 - benign(0.245) tolerated(0.06) neutral(0.348) HMMPfam_UCH,superfamily_SSF54001 USP29 57663 genome.wustl.edu 37 19 57641437 57641437 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020903.2 +1 validated p.L465P 0.000 162 0% 152 32.9% 0 - benign(0.202) deleterious(0.03) neutral(0.384) HMMPfam_UCH,superfamily_SSF54001 ZIM3 114026 genome.wustl.edu 37 19 57646558 57646558 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052882.1 -1 provisional p.K383Q 0.988 159 0% 129 14% 0 - benign(0.238) deleterious(0.01) neutral(0.430) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DUXA 503835 genome.wustl.edu 37 19 57666668 57666668 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012729.1 -1 validated p.E171* 0.024 102 0% 129 23.3% 0 - - - - NULL ZNF264 9422 genome.wustl.edu 37 19 57724047 57724047 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003417.4 +1 reviewed p.R528* 0.000 163 0% 72 20.8% 11 90.9% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100288211 100288211 genome.wustl.edu 37 19 57828651 57828651 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343660.1 -1 model p.E94* 1.000 135 0% 241 29.9% 0 - - - - HMMPfam_DUF862 ZNF304 57343 genome.wustl.edu 37 19 57868023 57868023 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020657.2 +1 validated p.E262 0.000 118 0% 128 30.5% 15 40% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF547 284306 genome.wustl.edu 37 19 57888527 57888527 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173631.2 +1 validated p.A61 0.000 80 0% 56 23.2% 5 20% - - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF547 284306 genome.wustl.edu 37 19 57888889 57888889 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173631.2 +1 validated p.R182I 0.015 122 0% 67 31.3% 2 50% probably_damaging(0.997) tolerated(0.11) deleterious(0.738) superfamily_C2H2 and C2HC zinc fingers ZNF548 147694 genome.wustl.edu 37 19 57910857 57910857 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152909.3 +1 validated p.S401* 0.000 70 0% 56 35.7% 5 20% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF749 388567 genome.wustl.edu 37 19 57956354 57956354 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001023561.2 +1 provisional p.K613T 0.000 103 0% 65 32.3% 1 100% possibly_damaging(0.918) tolerated(0.23) neutral(0.410) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers VN1R1 57191 genome.wustl.edu 37 19 57967778 57967778 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020633.2 -1 reviewed p.S26Y 0.000 69 0% 77 27.3% 0 - unknown(0) deleterious(0) - superfamily_Family A G protein-coupled receptor-like ZNF772 400720 genome.wustl.edu 37 19 57984791 57984791 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001024596.2 -1 validated p.K441E 1.000 175 0% 250 29.6% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF419 79744 genome.wustl.edu 37 19 58005262 58005262 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098491.1 +1 validated p.R447Q 0.000 189 0% 286 29% 13 30.7% benign(0.117) tolerated(1) neutral(0.009) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF416 55659 genome.wustl.edu 37 19 58084067 58084067 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017879.1 -1 provisional p.R402I 0.006 121 0% 143 29.4% 4 75% possibly_damaging(0.719) deleterious(0) deleterious(0.705) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF416 55659 genome.wustl.edu 37 19 58084981 58084981 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017879.1 -1 provisional p.S97 0.000 125 0% 161 31.7% 6 16.6% - - - NULL ZIK1 284307 genome.wustl.edu 37 19 58101511 58101511 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010879.2 +1 provisional p.D111G 0.418 81 0% 94 38.3% 3 0% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL ZIK1 284307 genome.wustl.edu 37 19 58101892 58101892 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010879.2 +1 provisional p.L238R 0.001 73 0% 87 29.9% 0 - benign(0.057) tolerated(0.14) neutral(0.253) superfamily_Multiheme cytochromes ZIK1 284307 genome.wustl.edu 37 19 58102004 58102004 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010879.2 +1 provisional p.F275L 0.001 95 0% 149 31.5% 0 - benign(0.311) tolerated(0.19) neutral(0.147) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes ZNF211 10520 genome.wustl.edu 37 19 58153237 58153237 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006385.3 +1 validated p.S474 0.006 141 0% 102 22.5% 10 30% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN4 201516 genome.wustl.edu 37 19 58187871 58187871 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152677.2 +1 validated p.E120* 0.502 88 0% 123 24.4% 0 - - - - HMMPfam_SCAN ZNF551 90233 genome.wustl.edu 37 19 58198307 58198307 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138347.3 +1 validated p.Y206D 0.000 69 0% 106 32.1% 5 60% possibly_damaging(0.861) tolerated(0.25) neutral(0.370) NULL ZNF551 90233 genome.wustl.edu 37 19 58198959 58198959 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138347.3 +1 validated p.R423I 0.246 138 0% 109 32.1% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF671 79891 genome.wustl.edu 37 19 58234604 58234604 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024833.2 -1 validated p.N81K 0.608 122 0% 206 11.2% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF671 79891 genome.wustl.edu 37 19 58234669 58234669 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024833.2 -1 validated p.R60W 0.003 148 0% 215 30.2% 3 0% benign(0.003) tolerated(0.19) neutral(0.050) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF776 284309 genome.wustl.edu 37 19 58265270 58265270 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173632.3 +1 validated p.R258C 0.998 105 0% 95 34.7% 6 16.6% possibly_damaging(0.624) deleterious(0.04) deleterious(0.567) superfamily_C2H2 and C2HC zinc fingers ZNF776 284309 genome.wustl.edu 37 19 58265921 58265921 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173632.3 +1 validated p.L475I 0.002 161 0% 154 37% 9 55.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF586 54807 genome.wustl.edu 37 19 58290221 58290221 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017652.2 +1 validated p.E89A 0.000 67 0% 96 21.9% 25 72% benign(0.003) tolerated(0.45) neutral(0.012) superfamily_SSF57667 ZNF418 147686 genome.wustl.edu 37 19 58437519 58437519 + Nonstop_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133460.1 -1 provisional p.*677L 0.006 116 0% 72 22.2% 1 100% - - - NULL C19orf18 147685 genome.wustl.edu 37 19 58485519 58485519 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152474.4 -1 predicted p.F58L 0.000 396 0% 173 26.6% 0 - possibly_damaging(0.574) tolerated(1) neutral(0.197) NULL ZNF329 79673 genome.wustl.edu 37 19 58639906 58639906 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024620.3 -1 validated p.K322T 1.000 199 0% 215 34.9% 13 69.2% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF8 7554 genome.wustl.edu 37 19 58806563 58806563 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021089.2 +1 validated p.S463 0.001 40 0% 38 23.7% 6 50% - - - superfamily_SSF57667 ZNF132 7691 genome.wustl.edu 37 19 58945384 58945384 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003433.3 -1 validated p.R476Q 0.000 170 0% 114 38.6% 0 - probably_damaging(0.998) tolerated(0.88) deleterious(0.474) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF132 7691 genome.wustl.edu 37 19 58946445 58946445 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003433.3 -1 validated p.F122L 0.067 87 0% 88 28.4% 3 33.3% benign(0) tolerated(0.59) neutral(0.004) superfamily_C2H2 and C2HC zinc fingers TRIM28 10155 genome.wustl.edu 37 19 59056833 59056833 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005762.2 +1 reviewed p.D128Y 1.000 56 0% 86 31.4% 181 41.9% probably_damaging(0.999) tolerated(0.2) deleterious(0.539) superfamily_RING/U-box DEFB125 245938 genome.wustl.edu 37 20 68379 68379 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153325.2 +1 reviewed p.I10T 0.044 193 0% 59 11.9% 0 - possibly_damaging(0.901) deleterious(0.01) deleterious(0.762) NULL ZCCHC3 85364 genome.wustl.edu 37 20 278903 278903 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000382352 +1 known p.F226L 0.823 43 0% 50 40% 57 38.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C20orf202 400831 genome.wustl.edu 37 20 1187730 1187730 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009612.2 +1 predicted p.R118Q 0.997 29 0% 29 24.1% 0 - possibly_damaging(0.951) - - NULL RAD21L1 642636 genome.wustl.edu 37 20 1209230 1209230 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136566.2 +1 validated p.L45I 0.383 81 0% 185 31.9% 0 - benign(0.001) tolerated(1) - HMMPfam_Rad21_Rec8_N RAD21L1 642636 genome.wustl.edu 37 20 1210533 1210533 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136566.2 +1 validated p.A52T 1.000 134 0% 203 34.5% 0 - possibly_damaging(0.849) deleterious(0) deleterious(0.770) HMMPfam_Rad21_Rec8_N RAD21L1 642636 genome.wustl.edu 37 20 1235028 1235028 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136566.2 +1 validated p.A533D 0.999 69 0% 55 43.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Rad21_Rec8 SNPH 9751 genome.wustl.edu 37 20 1276949 1276949 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000381867 +1 known p.P22 1.000 34 0% 50 42% 0 - - - - NULL SDCBP2 27111 genome.wustl.edu 37 20 1301046 1301046 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080489.3 -1 validated p.Y5 1.000 74 0% 103 40.8% 6 50% - - - NULL SIRPB2 284759 genome.wustl.edu 37 20 1456877 1456877 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122962.1 -1 validated p.D322Y 0.001 93 0% 98 22.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SIRPB2 284759 genome.wustl.edu 37 20 1458989 1458989 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122962.1 -1 validated p.T239A 1.000 88 0% 53 32.1% 1 0% possibly_damaging(0.942) deleterious(0.05) deleterious(0.732) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIRPB2 284759 genome.wustl.edu 37 20 1459183 1459183 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122962.1 -1 validated p.D174G 0.511 57 0% 34 32.4% 3 0% benign(0.017) tolerated(0.23) neutral(0.042) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIRPG 55423 genome.wustl.edu 37 20 1629760 1629760 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018556.3 -1 reviewed p.R123Q 0.146 353 0% 140 27.9% 9 0% benign(0.154) tolerated(0.9) neutral(0.013) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin TGM3 7053 genome.wustl.edu 37 20 2290902 2290902 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003245.3 +1 reviewed p.V87A 0.000 42 0% 39 35.9% 0 - benign(0.006) tolerated(1) - HMMPfam_Transglut_N,superfamily_E set domains TGM6 343641 genome.wustl.edu 37 20 2397950 2397950 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198994.2 +1 validated p.R470I 0.090 30 0% 30 23.3% 0 - probably_damaging(0.969) tolerated(0.42) neutral(0.425) NULL TMC2 117532 genome.wustl.edu 37 20 2560664 2560664 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080751.2 +1 validated p.L266I 0.999 282 0% 205 32.2% 0 - probably_damaging(0.999) tolerated(0.57) deleterious(0.496) NULL NOP56 10528 genome.wustl.edu 37 20 2638687 2638687 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006392.2 +1 reviewed p.S511Y 0.990 37 0% 45 22.2% 52 44.2% possibly_damaging(0.449) deleterious(0) deleterious(0.592) NULL CPXM1 56265 genome.wustl.edu 37 20 2779502 2779502 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019609.4 -1 reviewed p.K70N 1.000 148 0% 183 23% 12 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL PTPRA 5786 genome.wustl.edu 37 20 2968579 2968579 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000358719 +1 known p.R168* 0.021 79 0% 43 30.2% 0 - - - - NULL FASTKD5 60493 genome.wustl.edu 37 20 3128875 3128875 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021826.4 -1 validated p.L281P 1.000 49 0% 42 45.2% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC4A11 83959 genome.wustl.edu 37 20 3211205 3211205 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032034.3 -1 reviewed p.L473 0.588 79 0% 130 30% 5 60% - - - HMMPfam_HCO3_cotransp C20orf194 25943 genome.wustl.edu 37 20 3259591 3259591 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009984.1 -1 validated p.L873I 1.000 40 0% 46 28.3% 7 57.1% possibly_damaging(0.833) tolerated(0.15) deleterious(0.558) NULL C20orf194 25943 genome.wustl.edu 37 20 3270782 3270782 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009984.1 -1 validated p.C774R 1.000 111 0% 88 39.8% 5 20% benign(0) tolerated(0.4) neutral(0.016) NULL C20orf194 25943 genome.wustl.edu 37 20 3354767 3354767 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009984.1 -1 validated p.E180D 1.000 166 0% 230 35.2% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ATRN 8455 genome.wustl.edu 37 20 3515957 3515957 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_139321.2 +1 reviewed p.T156 0.905 142 0% 113 27.4% 5 40% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SIGLEC1 6614 genome.wustl.edu 37 20 3678505 3678505 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_023068.3 -1 reviewed p.L688I 0.951 19 0% 23 43.5% 3 0% probably_damaging(0.972) tolerated(0.44) neutral(0.426) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin HSPA12B 116835 genome.wustl.edu 37 20 3728940 3728940 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052970.3 +1 reviewed p.R251H 1.000 38 0% 62 32.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPEF1 25876 genome.wustl.edu 37 20 3759084 3759084 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015417.4 -1 validated p.S196Y 0.570 30 0% 56 41.1% 0 - benign(0.011) tolerated(0.89) neutral(0.001) NULL SPEF1 25876 genome.wustl.edu 37 20 3759531 3759531 + Nonsense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000312411 -1 known p.L162* 0.000 51 0% 85 27.1% 0 - - - - NULL SMOX 54498 genome.wustl.edu 37 20 4164168 4164168 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_175839.1 +1 reviewed p.R466Q 1.000 81 0% 123 31.7% 35 28.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain RASSF2 9770 genome.wustl.edu 37 20 4766954 4766954 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014737.2 -1 reviewed p.F278 0.503 152 0.7% 106 29.2% 4 0% - - - NULL C20orf30 29058 genome.wustl.edu 37 20 5086926 5086926 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009923.1 -1 validated p.K107Q 1.000 81 0% 116 31.9% 174 44.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF872 GPCPD1 56261 genome.wustl.edu 37 20 5559154 5559154 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019593.3 -1 validated p.D193N 0.992 134 0% 120 31.7% 62 48.3% benign(0.003) tolerated(0.65) neutral(0.003) NULL CHGB 1114 genome.wustl.edu 37 20 5903153 5903153 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001819.2 +1 reviewed p.E121D 0.001 61 0% 44 29.5% 3 100% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Granin MCM8 84515 genome.wustl.edu 37 20 5963634 5963634 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032485.4 +1 reviewed p.E519A 1.000 187 0% 98 35.7% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MCM,HMMSmart_SM00350,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases LRRN4 164312 genome.wustl.edu 37 20 6021739 6021739 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152611.3 -1 validated p.D718N 0.000 9 0.000 16 0.312 3 0% benign(0.065) tolerated(0.44) neutral(0.017) NULL BMP2 650 genome.wustl.edu 37 20 6759042 6759042 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001200.2 +1 reviewed p.S166N 1.000 89 0% 80 35% 6 83.3% benign(0) tolerated(0.28) neutral(0.032) HMMPfam_TGFb_propeptide PLCB1 23236 genome.wustl.edu 37 20 8769336 8769336 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015192.2 +1 reviewed p.E1082V 1.000 131 0% 72 27.8% 13 69.2% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) HMMPfam_PLC-beta_C PLCB1 23236 genome.wustl.edu 37 20 8782723 8782723 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182734.1 +1 reviewed p.F1148 1.000 161 0% 95 30.5% 11 45.4% - - - HMMPfam_PLC-beta_C PLCB4 5332 genome.wustl.edu 37 20 9364898 9364898 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000933.3 +1 reviewed p.A302T 1.000 247 0% 384 32.6% 6 50% possibly_damaging(0.951) tolerated(0.07) deleterious(0.713) HMMPfam_efhand_like,superfamily_SSF47473 PLCB4 5332 genome.wustl.edu 37 20 9449230 9449230 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000933.3 +1 reviewed p.E1075D 0.998 130 0% 63 12.7% 9 33.3% possibly_damaging(0.643) tolerated(0.74) neutral(0.227) NULL PAK7 57144 genome.wustl.edu 37 20 9546725 9546725 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020341.3 -1 reviewed p.R433W 0.950 157 0% 96 25% 0 - unknown(0) deleterious(0) - superfamily_Kinase_like PAK7 57144 genome.wustl.edu 37 20 9546931 9546931 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020341.3 -1 reviewed p.S364L 0.004 80 0% 80 30% 0 - unknown(0) tolerated(0.05) - NULL ANKRD5 63926 genome.wustl.edu 37 20 10025099 10025099 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022096.4 +1 validated p.R202* 0.999 196 0% 158 34.2% 5 60% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SNAP25 6616 genome.wustl.edu 37 20 10265376 10265376 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003081.2 +1 reviewed p.K40T 1.000 358 0% 231 37.2% 0 - possibly_damaging(0.899) tolerated(0.17) neutral(0.415) HMMSmart_SM00397 JAG1 182 genome.wustl.edu 37 20 10625624 10625624 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000214.2 -1 reviewed p.R744Q 0.999 111 0% 60 41.7% 30 26.6% possibly_damaging(0.895) tolerated(0.19) neutral(0.402) superfamily_SSF57196 BTBD3 22903 genome.wustl.edu 37 20 11903664 11903664 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014962.2 +1 validated p.E307* 1.000 119 0% 52 19.2% 21 33.3% - - - NULL SPTLC3 55304 genome.wustl.edu 37 20 13053039 13053039 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018327.2 +1 validated p.D147N 1.000 126 0% 65 36.9% 1 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_PLP-dependent transferases SEL1L2 80343 genome.wustl.edu 37 20 13847439 13847439 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025229.1 -1 validated p.S438Y 1.000 150 0% 88 28.4% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901 SEL1L2 80343 genome.wustl.edu 37 20 13869133 13869133 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025229.1 -1 validated p.G192E 1.000 123 0% 99 34.3% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901 FLRT3 23767 genome.wustl.edu 37 20 14308052 14308052 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013281.2 -1 reviewed p.V34A 1.000 84 0% 26 26.9% 14 71.4% benign(0.017) tolerated(0.71) neutral(0.002) HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058 PCSK2 5126 genome.wustl.edu 37 20 17410109 17410109 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002594.2 +1 reviewed p.S217Y 0.999 91 0% 70 27.1% 0 - possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_HIS,superfamily_Subtilisin-like PCSK2 5126 genome.wustl.edu 37 20 17462297 17462297 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002594.2 +1 reviewed p.F500S 0.999 91 0% 77 33.8% 0 - possibly_damaging(0.692) tolerated(0.4) neutral(0.264) superfamily_Galactose-binding domain-like BFSP1 631 genome.wustl.edu 37 20 17479648 17479648 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001195.3 -1 reviewed p.E258G 1.000 133 0% 166 28.3% 2 0% possibly_damaging(0.69) tolerated(0.17) neutral(0.306) superfamily_Prefoldin RRBP1 6238 genome.wustl.edu 37 20 17640970 17640970 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042576.1 -1 reviewed p.K61N 1.000 158 0% 214 28% 118 36.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Rib_recp_KP_reg CSRP2BP 57325 genome.wustl.edu 37 20 18123370 18123370 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020536.4 +1 reviewed p.S22 0.098 83 0% 69 31.9% 92 44.5% - - - NULL CSRP2BP 57325 genome.wustl.edu 37 20 18142589 18142589 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020536.4 +1 reviewed p.D270Y 1.000 86 0% 93 28% 4 25% benign(0.213) deleterious(0) neutral(0.466) NULL POLR3F 10621 genome.wustl.edu 37 20 18455766 18455766 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006466.2 +1 reviewed p.E122* 1.000 101 0% 82 29.3% 1 0% - - - HMMPfam_RNA_pol_Rpc34 SEC23B 10483 genome.wustl.edu 37 20 18508162 18508162 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006363.4 +1 reviewed p.R339Q 1.000 230 0% 158 29.7% 73 38.3% probably_damaging(0.998) tolerated(0.31) deleterious(0.501) HMMPfam_Sec23_trunk,superfamily_SSF53300,superfamily_SSF81995 SLC24A3 57419 genome.wustl.edu 37 20 19496166 19496166 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020689.3 +1 validated p.N102 0.245 261 0% 185 31.9% 1 0% - - - NULL C20orf26 26074 genome.wustl.edu 37 20 20150030 20150030 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000431753 +1 known p.S3L 0.908 202 0% 137 25.5% 1 0% - - - NULL C20orf26 26074 genome.wustl.edu 37 20 20172058 20172058 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015585.3 +1 validated p.E529* 1.000 171 0% 137 22.6% 0 - - - - superfamily_Acyl-CoA N-acyltransferases (Nat) RALGAPA2 57186 genome.wustl.edu 37 20 20569982 20569982 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000430436 -1 known p.R607* 0.969 294 0% 139 32.4% 5 60% benign(0) tolerated(0.73) neutral(0.002) NULL XRN2 22803 genome.wustl.edu 37 20 21312958 21312958 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012255.3 +1 reviewed p.P246 0.977 166 0% 60 15% 36 11.1% - - - HMMPfam_XRN_N XRN2 22803 genome.wustl.edu 37 20 21337273 21337273 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012255.3 +1 reviewed p.S723Y 0.997 119 0% 64 31.2% 58 41.3% benign(0) deleterious(0.03) neutral(0.364) NULL NAPB 63908 genome.wustl.edu 37 20 23360521 23360521 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022080.2 -1 validated p.E240K 1.000 77 0% 86 32.6% 5 40% probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_TPR-like CST11 140880 genome.wustl.edu 37 20 23431173 23431173 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130794.1 -1 reviewed p.K129N 0.831 185 0% 125 26.4% 0 - probably_damaging(1) tolerated(0.33) deleterious(0.524) HMMSmart_SM00043,superfamily_Cystatin/monellin CST4 1472 genome.wustl.edu 37 20 23669457 23669457 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001899.2 -1 reviewed p.F50 0.011 157 0% 162 34% 0 - - - - HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 CST5 1473 genome.wustl.edu 37 20 23856851 23856851 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001900.4 -1 reviewed p.L135M 0.000 79 0% 65 35.4% 0 - benign(0.245) deleterious(0.05) neutral(0.370) HMMSmart_CY,superfamily_SSF54403 VSX1 30813 genome.wustl.edu 37 20 25059552 25059552 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014588.4 -1 reviewed p.E180D 0.998 120 0% 176 33.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ENTPD6 955 genome.wustl.edu 37 20 25205843 25205843 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001247.2 +1 reviewed p.C416R 0.998 74 0% 114 33.3% 157 48.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDA1_CD39 ZNF337 26152 genome.wustl.edu 37 20 25656669 25656669 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015655.2 -1 validated p.L419I 0.082 228 0% 114 32.5% 22 54.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FRG1B 284802 genome.wustl.edu 37 20 29628320 29628320 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000278882 +1 known p.E108* 1.000 224 0% 139 10.1% 19 36.8% - - - superfamily_Actin_crosslink,HMMPfam_FRG1 FRG1B 284802 genome.wustl.edu 37 20 29632657 29632657 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000278882 +1 known p.E158* 1.000 98 0% 44 13.6% 8 62.5% - - - HMMPfam_FRG1 DEFB118 117285 genome.wustl.edu 37 20 29960710 29960710 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_054112.1 +1 provisional p.Q37K 0.000 117 0% 91 34.1% 0 - benign(0.134) tolerated(1) neutral(0.011) NULL BCL2L1 598 genome.wustl.edu 37 20 30309498 30309498 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138578.1 -1 reviewed p.N175T 1.000 72 0% 123 10.6% 138 7.9% benign(0.001) tolerated(0.13) neutral(0.253) HMMPfam_Bcl-2,HMMSmart_SM00337,superfamily_Bcl-2 inhibitors of programmed cell death TTLL9 164395 genome.wustl.edu 37 20 30527010 30527010 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008409.2 +1 provisional p.R395I 1.000 82 0% 94 31.9% 0 - benign(0.326) tolerated(0.17) neutral(0.161) NULL HCK 3055 genome.wustl.edu 37 20 30672295 30672295 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002110.3 +1 reviewed p.L262I 0.976 117 0% 91 36.3% 19 0% benign(0.3) tolerated(1) neutral(0.093) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),superfamily_SH2 domain POFUT1 23509 genome.wustl.edu 37 20 30797902 30797902 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015352.1 +1 reviewed p.F51 1.000 164 0% 313 29.7% 32 40.6% - - - HMMPfam_O-FucT KIF3B 9371 genome.wustl.edu 37 20 30904598 30904598 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004798.2 +1 reviewed p.D557Y 1.000 88 0% 49 32.7% 21 47.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ASXL1 171023 genome.wustl.edu 37 20 31024333 31024333 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015338.5 +1 reviewed p.R1273H 0.001 78 0% 138 33.3% 40 22.5% benign(0.002) deleterious(0.05) neutral(0.345) NULL DNMT3B 1789 genome.wustl.edu 37 20 31386384 31386384 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006892.3 +1 reviewed p.R537W 1.000 25 0% 46 34.8% 13 53.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_FYVE/PHD zinc finger EFCAB8 388795 genome.wustl.edu 37 20 31507985 31507985 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000439060 +1 known p.E216* 0.002 201 0% 170 30.6% 0 - possibly_damaging(0.722) tolerated(0.46) neutral(0.274) superfamily_WD40 repeat-like BPIFA1 51297 genome.wustl.edu 37 20 31825916 31825916 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016583.3 +1 reviewed p.P72 0.001 52 0% 36 22.2% 0 - - - - HMMPfam_LBP_BPI_CETP EIF2S2 8894 genome.wustl.edu 37 20 32684602 32684602 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003908.3 -1 reviewed p.R182* 1.000 158 0% 103 35.9% 66 0% - - - HMMPfam_eIF-5_eIF-2B,superfamily_Translation initiation factor 2 beta aIF2beta N-terminal domain ITCH 83737 genome.wustl.edu 37 20 33000442 33000442 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031483.4 +1 reviewed p.K112E 1.000 120 0% 73 24.7% 7 0% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PIGU 128869 genome.wustl.edu 37 20 33173303 33173303 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080476.4 -1 reviewed p.F288L 1.000 116 0% 80 21.2% 66 42.4% probably_damaging(0.998) tolerated(0.91) deleterious(0.474) HMMPfam_PIG-U NCOA6 23054 genome.wustl.edu 37 20 33330707 33330707 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014071.2 -1 reviewed p.P1118L 0.998 91 0% 64 42.2% 15 66.6% benign(0.231) deleterious(0.04) neutral(0.372) NULL NCOA6 23054 genome.wustl.edu 37 20 33356353 33356353 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014071.2 -1 reviewed p.R143Q 1.000 181 0% 115 18.3% 8 62.5% possibly_damaging(0.704) deleterious(0.05) deleterious(0.599) NULL ERGIC3 51614 genome.wustl.edu 37 20 34136358 34136358 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000416206 +1 known p.A185D 1.000 104 0% 120 29.2% 521 38% - - - HMMPfam_DUF1692 RBM12 10137 genome.wustl.edu 37 20 34241865 34241865 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006047.4 -1 reviewed p.I460M 1.000 130 0% 173 34.1% 28 42.8% possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PHF20 51230 genome.wustl.edu 37 20 34501190 34501190 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016436.4 +1 validated p.K527N 1.000 115 0% 80 18.8% 5 20% unknown(0) deleterious(0) - NULL C20orf152 140894 genome.wustl.edu 37 20 34596237 34596237 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080834.1 +1 predicted p.R330I 0.998 111 0% 140 31.4% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_cNMP_binding C20orf152 140894 genome.wustl.edu 37 20 34599173 34599173 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080834.1 +1 predicted p.E421D 0.008 48 0% 40 32.5% 0 - benign(0.336) tolerated(0.23) neutral(0.147) superfamily_cNMP_binding DLGAP4 22839 genome.wustl.edu 37 20 35127701 35127701 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014902.4 +1 reviewed p.I689 1.000 28 0% 56 32.1% 0 - - - - HMMPfam_GKAP SAMHD1 25939 genome.wustl.edu 37 20 35539702 35539702 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015474.3 -1 reviewed p.I397L 0.983 100 0% 86 33.7% 151 52.3% benign(0.002) tolerated(0.92) - NULL RBL1 5933 genome.wustl.edu 37 20 35646692 35646692 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002895.2 -1 reviewed p.M904I 1.000 187 0% 255 32.9% 1 0% benign(0.19) tolerated(0.19) neutral(0.068) HMMPfam_RB_B,HMMSmart_SM00385,superfamily_Cyclin-like RBL1 5933 genome.wustl.edu 37 20 35661099 35661099 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002895.2 -1 reviewed p.R784I 1.000 233 0% 139 30.9% 11 18.1% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL C20orf132 140699 genome.wustl.edu 37 20 35796563 35796563 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000343811 -1 known p.S230* 0.997 232 0% 208 27.9% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL TTI1 9675 genome.wustl.edu 37 20 36634680 36634680 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014657.1 -1 predicted p.D808Y 1.000 264 0% 291 29.6% 29 44.8% possibly_damaging(0.708) deleterious(0.01) deleterious(0.661) superfamily_ARM-type_fold TGM2 7052 genome.wustl.edu 37 20 36758681 36758681 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004613.2 -1 reviewed p.F668 0.993 66 0% 70 38.6% 80 1.2% - - - HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains TGM2 7052 genome.wustl.edu 37 20 36766731 36766731 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004613.2 -1 reviewed p.E467K 0.000 88 0% 102 30.4% 97 0% benign(0) tolerated(0.53) neutral(0.007) NULL TGM2 7052 genome.wustl.edu 37 20 36767875 36767875 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004613.2 -1 reviewed p.S427 1.000 88 0% 135 30.4% 103 0.9% - - - superfamily_Cysteine proteinases KIAA1755 85449 genome.wustl.edu 37 20 36841691 36841691 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001029864.1 -1 predicted p.R1119I 0.001 40 0% 39 48.7% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL BPI 671 genome.wustl.edu 37 20 36946834 36946834 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001725.2 +1 reviewed p.N211T 0.000 109 0% 74 36.5% 0 - benign(0.001) tolerated(0.1) neutral(0.286) HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom RALGAPB 57148 genome.wustl.edu 37 20 37177350 37177350 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020336.2 +1 validated p.V974A 1.000 255 0.4% 101 32.7% 11 45.4% benign(0.057) deleterious(0) neutral(0.448) NULL RALGAPB 57148 genome.wustl.edu 37 20 37179799 37179799 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020336.2 +1 validated p.V1032A 1.000 176 0% 79 34.2% 16 50% possibly_damaging(0.94) tolerated(0.11) deleterious(0.657) NULL ADIG 149685 genome.wustl.edu 37 20 37214769 37214769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001018082.1 +1 validated p.E74D 0.006 44 0% 39 43.6% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL ARHGAP40 343578 genome.wustl.edu 37 20 37257569 37257569 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000373345 +1 known e3-1 0.087 84 0% 76 14.5% 0 - - - - - ARHGAP40 343578 genome.wustl.edu 37 20 37270438 37270438 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000373345 +1 known p.R397I 0.998 236 0% 347 14.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP LPIN3 64900 genome.wustl.edu 37 20 39984644 39984644 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022896.1 +1 validated p.K591N 1.000 379 0% 450 30.2% 14 64.2% possibly_damaging(0.614) deleterious(0.01) deleterious(0.619) NULL EMILIN3 90187 genome.wustl.edu 37 20 39991683 39991683 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052846.1 -1 validated p.P176S 1.000 18 0% 28 39.3% 3 0% possibly_damaging(0.767) deleterious(0.03) deleterious(0.649) NULL CHD6 84181 genome.wustl.edu 37 20 40041979 40041979 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032221.3 -1 reviewed p.V2372 0.084 44 0% 55 25.5% 15 60% - - - NULL CHD6 84181 genome.wustl.edu 37 20 40050163 40050163 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032221.3 -1 reviewed p.E1704D 0.973 98 0% 48 45.8% 13 30.7% possibly_damaging(0.496) deleterious(0) deleterious(0.610) NULL CHD6 84181 genome.wustl.edu 37 20 40050206 40050206 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032221.3 -1 reviewed p.I1690S 1.000 85 0% 46 30.4% 10 70% benign(0.116) deleterious(0) neutral(0.454) NULL CHD6 84181 genome.wustl.edu 37 20 40102131 40102131 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032221.3 -1 reviewed p.R832Q 1.000 75 0% 37 29.7% 8 50% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases PTPRT 11122 genome.wustl.edu 37 20 40714425 40714425 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000454126 -1 known p.P943L 0.005 62 0% 40 37.5% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRT 11122 genome.wustl.edu 37 20 40827911 40827911 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133170.3 -1 reviewed p.F839L 1.000 122 0% 103 34% 0 - benign(0.002) tolerated(1) - NULL L3MBTL1 26013 genome.wustl.edu 37 20 42157386 42157386 + Splice_Site SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015478.5 +1 reviewed e5+1 1.000 56 0% 49 28.6% 0 - - - - - HNF4A 3172 genome.wustl.edu 37 20 43048506 43048506 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000457.3 +1 reviewed p.F294L 1.000 64 0% 69 36.2% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain ADA 100 genome.wustl.edu 37 20 43248478 43248478 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000022.2 -1 reviewed p.L363 0.001 69 0% 80 33.8% 16 12.5% - - - NULL KCNK15 60598 genome.wustl.edu 37 20 43379101 43379101 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022358.2 +1 reviewed p.F205 0.998 32 0% 75 36% 2 50% - - - HMMPfam_Ion_trans_2,superfamily_SSF81324 TP53TG5 27296 genome.wustl.edu 37 20 44004081 44004081 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014477.2 -1 validated p.K122N 0.011 214 0% 278 23% 1 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL SPINT3 10816 genome.wustl.edu 37 20 44144190 44144190 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006652.1 -1 validated p.R20Q 0.000 106 0% 42 40.5% 0 - probably_damaging(0.982) tolerated(0.17) deleterious(0.485) NULL CTSA 5476 genome.wustl.edu 37 20 44526445 44526445 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000308.2 +1 reviewed p.K436N 1.000 140 0% 249 22.5% 206 0.9% possibly_damaging(0.591) deleterious(0.05) deleterious(0.549) HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases PLTP 5360 genome.wustl.edu 37 20 44527588 44527588 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006227.2 -1 reviewed p.A492T 0.145 108 0% 159 27% 222 7.2% unknown(0) tolerated(0.14) - NULL MMP9 4318 genome.wustl.edu 37 20 44639620 44639620 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004994.2 +1 reviewed p.P194T 1.000 33 0% 56 32.1% 205 0% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" SLC12A5 57468 genome.wustl.edu 37 20 44665418 44665418 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001134771.1 +1 reviewed p.T178 1.000 162 0% 206 35% 0 - - - - HMMPfam_AA_permease NCOA5 57727 genome.wustl.edu 37 20 44708060 44708060 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020967.2 -1 reviewed p.N2H 1.000 359 0% 268 29.5% 10 60% unknown(0) deleterious(0.01) - NULL CDH22 64405 genome.wustl.edu 37 20 44806783 44806783 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021248.1 -1 reviewed p.D573N 1.000 43 0% 81 30.9% 0 - benign(0.009) tolerated(0.3) neutral(0.029) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH22 64405 genome.wustl.edu 37 20 44841649 44841649 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021248.1 -1 reviewed p.I339 1.000 86 0% 140 41.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH22 64405 genome.wustl.edu 37 20 44841828 44841828 + Splice_Site SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021248.1 -1 reviewed e5-1 1.000 42 0% 65 29.2% 0 - - - - - ELMO2 63916 genome.wustl.edu 37 20 45003265 45003265 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133171.3 -1 reviewed p.P360 0.861 86 0% 69 23.2% 43 39.5% - - - HMMPfam_ELMO_CED12 NCOA3 8202 genome.wustl.edu 37 20 46264238 46264238 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181659.2 +1 reviewed p.S429R 0.988 38 0% 31 25.8% 15 46.6% benign(0.149) tolerated(0.5) neutral(0.023) NULL PREX1 57580 genome.wustl.edu 37 20 47248859 47248859 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000396220 -1 known p.T1529M 0.059 54 0% 144 32.6% 25 8% unknown(0) - - NULL PREX1 57580 genome.wustl.edu 37 20 47258745 47258745 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020820.3 -1 reviewed p.E1246K 1.000 97 0% 138 34.8% 13 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ENSG00000245952 0 genome.wustl.edu 37 20 47274774 47274774 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000456747 +1 known NULL 0.003 95 0% 85 27.1% 0 - - - - - ARFGEF2 10564 genome.wustl.edu 37 20 47570183 47570183 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006420.2 +1 reviewed p.R232C 0.040 148 0% 94 23.4% 5 40% benign(0.001) tolerated(0.1) neutral(0.286) superfamily_ARM-type_fold ARFGEF2 10564 genome.wustl.edu 37 20 47582450 47582450 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006420.2 +1 reviewed p.L317I 0.005 65 0% 53 32.1% 11 54.5% benign(0.001) tolerated(0.42) neutral(0.014) superfamily_ARM-type_fold CSE1L 1434 genome.wustl.edu 37 20 47679858 47679858 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001316.2 +1 reviewed p.Y69D 1.000 65 0% 37 13.5% 36 30.5% probably_damaging(0.954) deleterious(0.01) deleterious(0.803) HMMPfam_IBN_N,superfamily_ARM repeat STAU1 6780 genome.wustl.edu 37 20 47734934 47734934 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017453.2 -1 reviewed p.K375N 1.000 297 0.3% 250 33.6% 63 61.9% probably_damaging(0.999) tolerated(0.63) deleterious(0.494) NULL ZNFX1 57169 genome.wustl.edu 37 20 47881256 47881256 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021035.2 -1 validated p.M716I 1.000 113 0% 83 36.1% 14 57.1% benign(0.256) tolerated(0.39) neutral(0.042) superfamily_P-loop containing nucleoside triphosphate hydrolases KCNB1 3745 genome.wustl.edu 37 20 47990422 47990422 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004975.2 -1 reviewed p.E559K 1.000 95 0% 62 29% 0 - probably_damaging(0.991) tolerated(0.09) deleterious(0.740) HMMPfam_Kv2channel KCNB1 3745 genome.wustl.edu 37 20 47991189 47991189 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004975.2 -1 reviewed p.R303Q 1.000 66 0% 38 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 KCNB1 3745 genome.wustl.edu 37 20 47991269 47991269 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004975.2 -1 reviewed p.T276 1.000 68 0% 47 25.5% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SLC9A8 23315 genome.wustl.edu 37 20 48494576 48494576 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015266.1 +1 validated p.E378D 1.000 566 0% 467 32.1% 4 75% possibly_damaging(0.758) tolerated(0.12) deleterious(0.541) HMMPfam_Na_H_Exchanger SNAI1 6615 genome.wustl.edu 37 20 48600511 48600511 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005985.2 +1 reviewed p.R78Q 0.159 36 0% 53 34% 4 50% benign(0.004) tolerated(0.3) neutral(0.029) NULL PTPN1 5770 genome.wustl.edu 37 20 49197851 49197851 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002827.2 +1 reviewed p.R380* 0.000 49 0% 82 36.6% 41 21.9% - - - NULL ATP9A 10079 genome.wustl.edu 37 20 50225107 50225107 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006045.1 -1 validated p.K899E 1.000 145 0% 170 31.2% 39 51.2% benign(0.104) tolerated(0.25) neutral(0.045) NULL ATP9A 10079 genome.wustl.edu 37 20 50292678 50292678 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006045.1 -1 validated p.R290Q 0.710 145 0% 109 27.5% 22 54.5% benign(0.239) tolerated(0.08) neutral(0.324) NULL SALL4 57167 genome.wustl.edu 37 20 50408677 50408677 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020436.3 -1 reviewed p.F115L 0.165 74 0% 91 30.8% 0 - benign(0.004) tolerated(0.48) neutral(0.011) NULL ZNF217 7764 genome.wustl.edu 37 20 52198672 52198672 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006526.2 -1 validated p.I232L 0.169 72 0% 66 31.8% 18 33.3% benign(0.021) tolerated(0.71) neutral(0.003) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 CYP24A1 1591 genome.wustl.edu 37 20 52774015 52774015 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000782.4 -1 reviewed p.P449H 0.997 97 0% 66 18.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_p450,superfamily_Cytochrome_P450 CBLN4 140689 genome.wustl.edu 37 20 54579040 54579040 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080617.4 -1 reviewed p.S63L 1.000 55 0% 133 27.8% 0 - benign(0.334) tolerated(0.13) neutral(0.357) NULL AURKA 6790 genome.wustl.edu 37 20 54961474 54961474 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003600.2 -1 reviewed p.S53Y 0.964 139 0% 108 31.5% 17 47% possibly_damaging(0.527) tolerated(1) neutral(0.178) NULL GCNT7 140687 genome.wustl.edu 37 20 55066639 55066639 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000243913 -1 known p.H301N 0.001 65 0% 54 18.5% 0 - benign(0.004) tolerated(0.37) neutral(0.019) NULL GCNT7 140687 genome.wustl.edu 37 20 55071770 55071770 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000243913 -1 known p.K177Q 1.000 175 0% 120 32.5% 0 - possibly_damaging(0.903) tolerated(0.53) neutral(0.365) HMMPfam_Branch BMP7 655 genome.wustl.edu 37 20 55746057 55746057 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001719.2 -1 reviewed p.K418N 1.000 68 0% 95 42.1% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines RAE1 8480 genome.wustl.edu 37 20 55949834 55949834 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001015885.1 +1 reviewed p.A333T 0.986 66 0% 108 16.7% 53 26.4% benign(0.29) deleterious(0.02) deleterious(0.473) superfamily_WD40 repeat-like RAE1 8480 genome.wustl.edu 37 20 55953108 55953108 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001015885.1 +1 reviewed p.F354V 1.000 105 0% 153 11.1% 38 23.6% benign(0.04) tolerated(0.27) neutral(0.036) superfamily_WD40 repeat-like CTCFL 140690 genome.wustl.edu 37 20 56090881 56090881 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080618.2 -1 reviewed p.L357 0.697 100 0% 77 24.7% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PCK1 5105 genome.wustl.edu 37 20 56140182 56140182 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002591.3 +1 reviewed p.E469* 0.995 92 0% 90 31.1% 0 - - - - HMMPfam_PEPCK,superfamily_SSF53795 ZBP1 81030 genome.wustl.edu 37 20 56186794 56186794 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030776.2 -1 validated p.G288D 0.000 37 0% 46 10.9% 6 0% probably_damaging(0.998) tolerated(0.79) deleterious(0.475) NULL C20orf85 128602 genome.wustl.edu 37 20 56728607 56728607 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178456.2 +1 validated p.R26C 0.968 132 0% 138 25.4% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ANKRD60 140731 genome.wustl.edu 37 20 56798146 56798146 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001134442.3 -1 model p.E175* 0.496 108 0% 201 29.4% 0 - - - - HMMPfam_Ank,superfamily_ANK,superfamily_SSF54236 TH1L 51497 genome.wustl.edu 37 20 57561209 57561209 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198976.1 +1 reviewed p.K50T 0.997 138 0% 218 42.2% 51 47% benign(0.075) tolerated(0.16) neutral(0.065) HMMPfam_TH1 PHACTR3 116154 genome.wustl.edu 37 20 58318215 58318215 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080672.3 +1 reviewed p.R58* 0.981 93 0% 119 30.3% 0 - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58443596 58443596 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014258.2 -1 reviewed p.R1287I 0.732 301 0% 162 32.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SYCP2 10388 genome.wustl.edu 37 20 58450338 58450338 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014258.2 -1 reviewed p.E1113* 1.000 143 0% 36 25% 0 - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58467450 58467450 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014258.2 -1 reviewed p.Q653H 0.003 206 0% 74 31.1% 0 - benign(0.009) tolerated(0.4) neutral(0.017) NULL SYCP2 10388 genome.wustl.edu 37 20 58476860 58476860 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014258.2 -1 reviewed p.E347K 1.000 130 0% 55 50.9% 0 - benign(0.273) deleterious(0.04) neutral(0.378) NULL SYCP2 10388 genome.wustl.edu 37 20 58490229 58490229 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014258.2 -1 reviewed p.D209Y 1.000 88 0% 31 25.8% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CDH4 1002 genome.wustl.edu 37 20 60504809 60504809 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001794.2 +1 reviewed p.N716K 0.995 88 0% 142 28.2% 6 83.3% possibly_damaging(0.575) tolerated(0.6) neutral(0.202) HMMSmart_CA,superfamily_Cadherin TAF4 6874 genome.wustl.edu 37 20 60574072 60574072 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003185.3 -1 reviewed p.E960 0.819 90 0% 107 44.9% 23 52.1% - - - HMMPfam_TAF4 TAF4 6874 genome.wustl.edu 37 20 60582647 60582647 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003185.3 -1 reviewed p.E644* 1.000 222 0% 433 28.4% 17 17.6% - - - HMMPfam_TAFH,HMMSmart_TAFH C20orf151 140893 genome.wustl.edu 37 20 60992303 60992303 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080833.2 -1 validated p.E59D 1.000 120 0% 227 35.2% 7 57.1% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_CtIP_N GATA5 140628 genome.wustl.edu 37 20 61040454 61040454 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080473.4 -1 reviewed p.S327L 0.007 35 0% 75 29.3% 8 62.5% benign(0) tolerated(0.31) neutral(0.027) NULL C20orf166 128826 genome.wustl.edu 37 20 61167681 61167681 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178463.3 +1 validated p.E51* 0.007 52 0% 129 23.3% 0 - - - - NULL COL9A3 1299 genome.wustl.edu 37 20 61468602 61468602 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001853.3 +1 reviewed p.D591N 1.000 17 0% 27 25.9% 6 33.3% probably_damaging(0.996) tolerated(0.62) neutral(0.466) HMMPfam_Collagen DIDO1 11083 genome.wustl.edu 37 20 61511540 61511540 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033081.1 -1 reviewed p.F1923C 0.975 15 0% 32 37.5% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL YTHDF1 54915 genome.wustl.edu 37 20 61834980 61834980 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000342761 -1 known p.F3C 0.812 85 0% 170 25.9% 46 45.6% unknown(0) - - NULL KCNQ2 3785 genome.wustl.edu 37 20 62065098 62065098 + Nonstop_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_172109.1 -1 reviewed p.*394Y 0.000 55 0% 83 27.7% 0 - - - - NULL STMN3 50861 genome.wustl.edu 37 20 62275610 62275610 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015894.2 -1 reviewed p.C24 1.000 116 0% 197 32% 11 9% - - - NULL RTEL1 51750 genome.wustl.edu 37 20 62324554 62324554 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032957.3 +1 reviewed p.Q970 0.996 81 0% 143 13.3% 44 6.8% - - - NULL RTEL1 51750 genome.wustl.edu 37 20 62326721 62326721 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032957.3 +1 reviewed p.K1180N 0.065 29 0% 52 25% 42 30.9% benign(0.215) deleterious(0) neutral(0.466) NULL ZNF512B 57473 genome.wustl.edu 37 20 62595930 62595930 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020713.1 -1 provisional p.G392S 0.766 65 0% 96 35.4% 19 36.8% benign(0.418) tolerated(0.16) neutral(0.195) NULL ZNF512B 57473 genome.wustl.edu 37 20 62596057 62596057 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020713.1 -1 provisional p.S349 0.966 40 0% 74 28.4% 20 35% - - - NULL MYT1 4661 genome.wustl.edu 37 20 62836912 62836912 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004535.2 +1 reviewed p.Q52H 1.000 67 0% 107 31.8% 0 - probably_damaging(0.991) tolerated(0.26) deleterious(0.478) HMMPfam_zf-C2HC,superfamily_SSF103637 MYT1 4661 genome.wustl.edu 37 20 62839225 62839225 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004535.2 +1 reviewed p.E226K 0.729 30 0% 73 35.6% 0 - benign(0.244) tolerated(0.13) neutral(0.277) NULL MYT1 4661 genome.wustl.edu 37 20 62868659 62868659 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004535.2 +1 reviewed p.E1003D 0.978 26 0% 60 28.3% 0 - benign(0.026) tolerated(0.52) neutral(0.010) NULL TPTE 7179 genome.wustl.edu 37 21 10933875 10933875 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199261.2 -1 validated p.A335V 0.982 688 0.1% 386 10.1% 0 - benign(0.059) tolerated(0.33) neutral(0.028) superfamily_(Phosphotyrosine protein) phosphatases II TPTE 7179 genome.wustl.edu 37 21 10934073 10934073 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199261.2 -1 validated p.I302L 0.918 624 0% 321 11.2% 0 - benign(0.206) tolerated(0.18) neutral(0.076) superfamily_(Phosphotyrosine protein) phosphatases II TPTE 7179 genome.wustl.edu 37 21 10944729 10944729 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199261.2 -1 validated p.L169I 0.008 335 0% 291 11% 0 - benign(0.004) tolerated(0.07) neutral(0.319) superfamily_Voltage-gated potassium channels LIPI 149998 genome.wustl.edu 37 21 15579230 15579230 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198996.2 -1 validated p.C5 0.593 121 0% 83 32.5% 0 - - - - NULL HSPA13 6782 genome.wustl.edu 37 21 15753727 15753727 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006948.4 -1 reviewed p.V55L 1.000 162 0% 197 32% 25 28% possibly_damaging(0.766) deleterious(0) deleterious(0.728) HMMPfam_HSP70,superfamily_Actin-like ATPase domain NRIP1 8204 genome.wustl.edu 37 21 16338758 16338758 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003489.3 -1 reviewed p.T586A 0.006 236 0% 178 32% 12 33.3% benign(0) tolerated(0.45) neutral(0.012) NULL USP25 29761 genome.wustl.edu 37 21 17135240 17135240 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013396.3 +1 validated p.E26* 1.000 194 0% 128 32% 9 77.7% - - - superfamily_UBA-like USP25 29761 genome.wustl.edu 37 21 17197307 17197307 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013396.3 +1 validated p.I411L 1.000 136 0% 59 30.5% 12 41.6% benign(0) tolerated(1) - HMMPfam_UCH,superfamily_Cysteine proteinases USP25 29761 genome.wustl.edu 37 21 17199507 17199507 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013396.3 +1 validated p.E560* 1.000 62 0% 26 38.5% 13 23% - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP25 29761 genome.wustl.edu 37 21 17250145 17250145 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013396.3 +1 validated p.E944* 1.000 159 0% 98 27.6% 20 30% - - - NULL TMPRSS15 5651 genome.wustl.edu 37 21 19651313 19651313 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002772.2 -1 reviewed p.S911Y 0.989 117 0% 102 30.4% 0 - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases NCAM2 4685 genome.wustl.edu 37 21 22782731 22782731 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004540.2 +1 reviewed p.N445H 1.000 88 1.1% 85 24.7% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22790868 22790868 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004540.2 +1 reviewed p.E487* 1.000 128 0% 120 23.3% 1 0% - - - superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22910264 22910264 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004540.2 +1 reviewed p.D834N 1.000 37 0% 29 34.5% 1 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL ADAMTS1 9510 genome.wustl.edu 37 21 28210368 28210368 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006988.3 -1 reviewed p.R812C 0.999 124 0% 106 28.3% 87 42.5% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_ADAM_spacer1 N6AMT1 29104 genome.wustl.edu 37 21 30248811 30248811 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013240.3 -1 reviewed p.E181* 1.000 190 0% 111 24.3% 5 0% - - - HMMPfam_MTS,superfamily_S-adenosyl-L-methionine-dependent methyltransferases BACH1 571 genome.wustl.edu 37 21 30699083 30699083 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001186.2 +1 reviewed p.S313Y 0.027 63 0% 54 31.5% 2 50% benign(0.079) tolerated(0.07) neutral(0.325) NULL GRIK1 2897 genome.wustl.edu 37 21 30959768 30959768 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000830.3 -1 reviewed p.L571F 1.000 76 0% 28 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRIK1-AS2 100379661 genome.wustl.edu 37 21 30968742 30968742 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000333765 +1 known p.N24T 0.591 97 0% 46 30.4% 0 - unknown(0) - - NULL CLDN8 9073 genome.wustl.edu 37 21 31588108 31588108 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_199328.2 -1 reviewed p.F46V 0.000 58 0% 58 31% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_PMP22_Claudin KRTAP27-1 643812 genome.wustl.edu 37 21 31709801 31709801 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077711.1 -1 provisional p.M62I 0.001 248 0% 98 31.6% 0 - benign(0.014) tolerated(0.6) neutral(0.005) HMMPfam_PMG KRTAP15-1 254950 genome.wustl.edu 37 21 31812750 31812750 + Silent SNP C C A rs150201622 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181623.1 +1 provisional p.I35 0.001 130 0% 91 30.8% 0 - - - - HMMPfam_PMG KRTAP6-2 337967 genome.wustl.edu 37 21 31971143 31971143 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181604.1 -1 validated p.C17 0.981 163 0% 85 24.7% 0 - - - - NULL TIAM1 7074 genome.wustl.edu 37 21 32585754 32585754 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003253.2 -1 validated p.S726Y 1.000 180 0% 131 29% 1 0% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) NULL SCAF4 57466 genome.wustl.edu 37 21 33065741 33065741 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020706.2 -1 reviewed p.R460Q 1.000 107 0% 125 42.4% 34 44.1% unknown(0) deleterious(0.01) - NULL URB1 9875 genome.wustl.edu 37 21 33717059 33717059 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014825.2 -1 validated p.I1359 0.000 90 0% 98 41.8% 15 46.6% - - - superfamily_ARM repeat URB1 9875 genome.wustl.edu 37 21 33726277 33726277 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014825.2 -1 validated p.R794M 1.000 75 0% 89 29.2% 11 45.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL URB1 9875 genome.wustl.edu 37 21 33739062 33739062 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014825.2 -1 validated p.I400 1.000 82 0% 45 20% 1 100% - - - NULL C21orf63 59271 genome.wustl.edu 37 21 33873812 33873812 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000457807 +1 known p.F182C 0.998 104 0% 109 22% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL TCP10L 140290 genome.wustl.edu 37 21 33949130 33949130 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144659.5 -1 validated p.P201H 0.000 207 0% 260 28.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TCP10L 140290 genome.wustl.edu 37 21 33951118 33951118 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144659.5 -1 validated p.K128N 0.002 213 0% 327 33% 1 0% benign(0.001) tolerated(0.22) neutral(0.042) NULL SYNJ1 8867 genome.wustl.edu 37 21 34022584 34022584 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003895.3 -1 validated p.L983V 1.000 266 0% 339 33.3% 1 100% benign(0.011) tolerated(0.18) neutral(0.057) HMMPfam_DUF1866 SYNJ1 8867 genome.wustl.edu 37 21 34045731 34045731 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003895.3 -1 validated p.R549C 1.000 210 0% 91 38.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like SYNJ1 8867 genome.wustl.edu 37 21 34045838 34045838 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003895.3 -1 validated p.S513Y 1.000 136 0% 52 42.3% 2 50% probably_damaging(0.993) tolerated(0.08) deleterious(0.750) superfamily_DNase I-like SYNJ1 8867 genome.wustl.edu 37 21 34099124 34099124 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003895.3 -1 validated p.E28G 1.000 70 0% 147 34.7% 6 50% possibly_damaging(0.56) tolerated(0.18) neutral(0.247) NULL IL10RB 3588 genome.wustl.edu 37 21 34668541 34668541 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000628.3 +1 reviewed p.S286L 0.001 152 0% 100 42% 35 17.1% benign(0.005) tolerated(0.2) neutral(0.049) NULL TMEM50B 757 genome.wustl.edu 37 21 34828091 34828091 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006134.5 -1 validated p.N125S 0.999 128 0% 60 38.3% 25 28% benign(0) tolerated(0.66) neutral(0.003) HMMPfam_UPF0220 DNAJC28 54943 genome.wustl.edu 37 21 34860556 34860556 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040192.1 -1 validated p.F382C 0.089 287 0% 486 31.7% 0 - benign(0.424) deleterious(0.03) deleterious(0.502) NULL DNAJC28 54943 genome.wustl.edu 37 21 34861550 34861550 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001040192.1 -1 validated p.E51* 0.998 195 0% 337 32.6% 4 25% - - - HMMPfam_DnaJ,HMMSmart_DnaJ,superfamily_DnaJ_N SON 6651 genome.wustl.edu 37 21 34921781 34921781 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138927.1 +1 reviewed e3-1 1.000 47 0% 102 22.5% 1 100% - - - - SON 6651 genome.wustl.edu 37 21 34931535 34931535 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138927.1 +1 reviewed e5-1 1.000 124 0% 181 30.4% 0 - - - - - MRPS6 64968 genome.wustl.edu 37 21 35514714 35514714 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032476.3 +1 reviewed p.F64L 1.000 115 0% 94 29.8% 105 31.4% possibly_damaging(0.877) deleterious(0) deleterious(0.786) superfamily_Ribosomal protein S6 FAM165B 54065 genome.wustl.edu 37 21 35757925 35757925 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058182.4 +1 validated p.E54D 1.000 112 0% 101 32.7% 20 45% benign(0.388) deleterious(0) deleterious(0.569) NULL RUNX1 861 genome.wustl.edu 37 21 36259154 36259154 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001754.4 -1 reviewed p.P113S 1.000 37 0% 63 28.6% 36 47.2% benign(0.153) deleterious(0) neutral(0.458) superfamily_p53-like transcription factors,HMMPfam_Runt SETD4 54093 genome.wustl.edu 37 21 37429428 37429428 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017438.3 -1 validated p.L50 0.071 168 0% 257 30% 12 83.3% - - - HMMPfam_SET,superfamily_SET domain DOPEY2 9980 genome.wustl.edu 37 21 37603119 37603119 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005128.2 +1 validated p.K679N 0.878 55 0% 59 35.6% 6 50% possibly_damaging(0.679) deleterious(0.02) deleterious(0.625) NULL DOPEY2 9980 genome.wustl.edu 37 21 37660375 37660375 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005128.2 +1 validated p.F2075C 1.000 292 0% 331 28.1% 9 22.2% probably_damaging(0.988) tolerated(0.12) deleterious(0.698) NULL MORC3 23515 genome.wustl.edu 37 21 37711150 37711150 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015358.2 +1 reviewed p.K180T 0.998 77 0% 81 33.3% 5 60% benign(0.062) deleterious(0.02) neutral(0.387) superfamily_ATP_bd_ATPase MORC3 23515 genome.wustl.edu 37 21 37741410 37741410 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015358.2 +1 reviewed p.E582* 1.000 153 0.7% 98 23.5% 15 40% - - - NULL CHAF1B 8208 genome.wustl.edu 37 21 37781718 37781718 + Missense_Mutation SNP C C T rs140663225 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005441.2 +1 reviewed p.R292C 1.000 129 0% 144 13.2% 25 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like SIM2 6493 genome.wustl.edu 37 21 38098446 38098446 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005069.3 +1 reviewed p.K190N 1.000 64 0% 76 23.7% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TTC3 7267 genome.wustl.edu 37 21 38536423 38536423 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001894.1 +1 validated p.E1081K 1.000 97 0% 56 37.5% 70 34.2% possibly_damaging(0.882) deleterious(0) deleterious(0.789) superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38538098 38538098 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001894.1 +1 validated p.I1194M 0.059 123 0.8% 68 38.2% 49 48.9% probably_damaging(0.961) deleterious(0) deleterious(0.849) superfamily_Spectrin,superfamily_SSF48452 BRWD1 54014 genome.wustl.edu 37 21 40578101 40578101 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018963.3 -1 reviewed p.R1433* 0.928 136 0% 77 20.8% 10 30% - - - superfamily_WD40 repeat-like WRB 7485 genome.wustl.edu 37 21 40762677 40762677 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004627.4 +1 reviewed p.E52D 1.000 92 0% 150 33.3% 103 48.5% benign(0.061) tolerated(0.14) neutral(0.254) HMMPfam_CHD5 LCA5L 150082 genome.wustl.edu 37 21 40783686 40783686 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152505.3 -1 validated p.R340* 0.996 171 0% 105 29.5% 0 - - - - NULL B3GALT5 10317 genome.wustl.edu 37 21 41032583 41032583 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006057.1 +1 reviewed p.E33* 0.001 196 0% 137 27.7% 0 - - - - NULL DSCAM 1826 genome.wustl.edu 37 21 41684046 41684046 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001389.3 -1 validated p.A675V 1.000 60 0% 40 37.5% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MX2 4600 genome.wustl.edu 37 21 42767576 42767576 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002463.1 +1 reviewed p.R312W 0.784 141 0.7% 119 31.1% 8 12.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Dynamin_M,HMMSmart_DYNc,superfamily_SSF52540 MX2 4600 genome.wustl.edu 37 21 42771137 42771137 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002463.1 +1 reviewed p.F429L 0.995 89 0% 61 31.1% 6 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Dynamin_M MX2 4600 genome.wustl.edu 37 21 42775241 42775241 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002463.1 +1 reviewed p.E541K 0.082 148 0% 117 30.8% 4 0% possibly_damaging(0.754) tolerated(0.53) neutral(0.286) HMMPfam_Dynamin_M TMPRSS3 64699 genome.wustl.edu 37 21 43809147 43809147 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024022.2 -1 reviewed p.F71 0.999 62 0% 39 23.1% 18 38.8% - - - superfamily_LDL receptor-like module TMPRSS3 64699 genome.wustl.edu 37 21 43815480 43815480 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024022.2 -1 reviewed p.R16Q 0.958 110 0% 120 30% 11 36.3% possibly_damaging(0.786) deleterious(0) deleterious(0.739) NULL UBASH3A 53347 genome.wustl.edu 37 21 43867197 43867197 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018961.2 +1 validated p.E627* 0.992 86 0% 76 39.5% 6 0% - - - superfamily_Phosphoglycerate mutase-like RSPH1 89765 genome.wustl.edu 37 21 43913099 43913099 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080860.2 -1 validated p.E49K 0.981 162 0% 307 10.4% 5 0% benign(0.084) tolerated(0.33) neutral(0.030) HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain RRP1B 23076 genome.wustl.edu 37 21 45113122 45113122 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015056.2 +1 validated p.R712Q 0.999 69 0% 83 32.5% 32 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNMT3L 29947 genome.wustl.edu 37 21 45680687 45680687 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013369.2 -1 reviewed p.N48D 0.004 103 0% 241 32.4% 0 - benign(0) tolerated(0.17) neutral(0.059) NULL PFKL 5211 genome.wustl.edu 37 21 45746649 45746649 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002626.4 +1 reviewed p.K749N 1.000 19 0% 33 42.4% 642 38% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_Phosphofructokinase TRPM2 7226 genome.wustl.edu 37 21 45811266 45811266 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003307.3 +1 reviewed p.T518A 0.670 26 0% 64 17.2% 2 0% benign(0.008) tolerated(0.48) neutral(0.011) NULL KRTAP10-6 386674 genome.wustl.edu 37 21 46011900 46011900 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198688.2 -1 validated p.C156R 0.167 156 0% 257 24.9% 0 - unknown(0) deleterious(0.03) - NULL KRTAP10-12 386685 genome.wustl.edu 37 21 46117218 46117218 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198699.1 +1 provisional p.E34 1.000 121 0% 160 36.9% 0 - - - - NULL LOC100130599 100130599 genome.wustl.edu 37 21 46122458 46122458 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343756.1 +1 model p.S238 0.000 180 0% 293 33.1% 0 - - - - HMMPfam_Keratin_B2 POFUT2 23275 genome.wustl.edu 37 21 46685485 46685485 + Missense_Mutation SNP C C G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_133635.4 -1 validated p.G401A 1.000 116 0% 228 28.9% 23 52.1% possibly_damaging(0.857) deleterious(0.03) deleterious(0.696) HMMPfam_O-FucT MCM3AP 8888 genome.wustl.edu 37 21 47663444 47663444 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003906.3 -1 reviewed p.L1744P 0.020 39 0% 33 39.4% 40 37.5% benign(0.313) deleterious(0) deleterious(0.542) NULL MCM3AP 8888 genome.wustl.edu 37 21 47695124 47695124 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003906.3 -1 reviewed p.F658 0.995 79 0% 113 33.6% 39 10.2% - - - NULL MCM3AP 8888 genome.wustl.edu 37 21 47705051 47705051 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003906.3 -1 reviewed p.S50 0.000 99 0% 188 35.6% 7 14.2% - - - NULL DIP2A 23181 genome.wustl.edu 37 21 47916967 47916967 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015151.3 +1 reviewed p.S117L 0.999 150 0% 261 32.6% 19 47.3% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_DMAP_binding DIP2A 23181 genome.wustl.edu 37 21 47966845 47966845 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015151.3 +1 reviewed p.I804 0.997 79 0% 133 27.1% 38 50% - - - superfamily_Acetyl-CoA synthetase-like S100B 6285 genome.wustl.edu 37 21 48022235 48022235 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006272.2 -1 reviewed p.E32K 0.998 174 0% 250 26% 2 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_S_100,superfamily_EF-hand LOC729057 729057 genome.wustl.edu 37 22 16123334 16123334 + RNA SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_042044.2 +1 model NULL 1.000 189 0.5% 360 18.6% 15 0% - - - - POTEH 23784 genome.wustl.edu 37 22 16258285 16258285 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136213.1 -1 provisional p.T513 0.202 552 0% 259 7.7% 2 0% - - - NULL POTEH 23784 genome.wustl.edu 37 22 16275261 16275261 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136213.1 -1 provisional p.S395T 0.217 357 0% 114 16.7% 0 - probably_damaging(0.973) tolerated(0.35) neutral(0.435) HMMSmart_ANK,superfamily_ANK OR11H1 81061 genome.wustl.edu 37 22 16449167 16449167 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005239.1 -1 provisional p.F213C 0.000 288 0% 137 18.2% 0 - benign(0.149) deleterious(0.01) neutral(0.419) HMMPfam_7tm_1,superfamily_SSF81321 GAB4 128954 genome.wustl.edu 37 22 17473003 17473003 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037814.1 -1 provisional p.E80fs 1.000 - - - - - - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 CECR1 51816 genome.wustl.edu 37 22 17670915 17670915 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017424.2 -1 reviewed p.D297Y 0.000 83 0% 112 30.4% 20 5% possibly_damaging(0.565) deleterious(0.02) deleterious(0.576) HMMPfam_A_deaminase,superfamily_SSF51556 CECR2 27443 genome.wustl.edu 37 22 18029011 18029011 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000400573 +1 known p.T1323M 0.014 55 0% 48 33.3% 0 - possibly_damaging(0.782) deleterious(0) deleterious(0.738) NULL LOC100288065 100288065 genome.wustl.edu 37 22 18070645 18070645 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344192.1 -1 model p.G47D 0.066 172 0% 161 26.7% 0 - - - - NULL MICAL3 57553 genome.wustl.edu 37 22 18354648 18354648 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015241.2 -1 provisional p.A795T 1.000 91 0% 131 30.5% 8 75% probably_damaging(0.992) tolerated(0.17) deleterious(0.506) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1 PEX26 55670 genome.wustl.edu 37 22 18570906 18570906 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000399746 +1 known p.A327T 0.000 31 0% 20 35% 40 65% unknown(0) - - NULL SLC25A1 6576 genome.wustl.edu 37 22 19165368 19165368 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005984.2 -1 validated p.F105L 1.000 24 0% 35 25.7% 141 39.7% possibly_damaging(0.892) tolerated(0.08) deleterious(0.651) superfamily_Mitoch_carrier,HMMPfam_Mito_carr CLTCL1 8218 genome.wustl.edu 37 22 19175222 19175222 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007098.3 -1 reviewed p.D1485N 0.974 60 0% 96 37.5% 9 33.3% probably_damaging(0.969) deleterious(0.05) deleterious(0.757) HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat CLTCL1 8218 genome.wustl.edu 37 22 19221125 19221125 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007098.3 -1 reviewed p.E396D 1.000 60 0% 43 14% 4 0% benign(0) tolerated(0.71) neutral(0.002) superfamily_ARM repeat GNB1L 54584 genome.wustl.edu 37 22 19776238 19776238 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053004.2 -1 validated p.R326 0.000 12 0% 16 25% 19 47.3% - - - NULL TXNRD2 10587 genome.wustl.edu 37 22 19898968 19898968 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000334363 -1 known p.I198 0.950 124 0% 176 27.8% 59 49.1% - - - HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain MIR185 406961 genome.wustl.edu 37 22 20020673 20020673 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000385288 +1 known NULL 1.000 46 0% 55 34.5% 0 - - - - - RANBP1 5902 genome.wustl.edu 37 22 20106568 20106568 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002882.2 +1 reviewed p.E16D 0.994 82 0% 179 31.8% 132 53% benign(0.057) tolerated(0.1) neutral(0.290) NULL RIMBP3 85376 genome.wustl.edu 37 22 20458827 20458827 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015672.1 -1 validated p.G825 0.003 133 0% 184 13.6% 0 - - - - superfamily_SH3-domain RIMBP3 85376 genome.wustl.edu 37 22 20458932 20458932 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015672.1 -1 validated p.S790 0.046 162 0% 301 13.6% 0 - - - - NULL FAM108A5P 729495 genome.wustl.edu 37 22 21022265 21022265 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343784.1 -1 model p.I351 1.000 25 0% 71 19.7% 4 0% - - - superfamily_alpha/beta-Hydrolases TMEM191A 84222 genome.wustl.edu 37 22 21055638 21055638 + RNA SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026815.1 +1 predicted NULL 0.472 163 0% 273 30.4% 0 - - - - - TMEM191A 84222 genome.wustl.edu 37 22 21055800 21055800 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_026815.1 +1 predicted NULL 0.192 184 0% 389 30.8% 0 - - - - - PI4KA 5297 genome.wustl.edu 37 22 21098925 21098925 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_058004.2 -1 reviewed p.Y1091 0.936 95 0% 71 25.4% 43 48.8% - - - NULL AIFM3 150209 genome.wustl.edu 37 22 21329994 21329994 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144704.2 +1 validated p.Q245L 1.000 19 0% 55 21.8% 1 0% benign(0.007) tolerated(0.17) neutral(0.059) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain FLJ39582 353117 genome.wustl.edu 37 22 21363749 21363749 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_027051.1 +1 validated NULL 0.054 42 0% 70 40% 0 - - - - - P2RX6 9127 genome.wustl.edu 37 22 21377875 21377875 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005446.3 +1 reviewed p.S286 1.000 86 0% 100 18% 0 - - - - HMMPfam_P2X_receptor,PatternScan_P2X_RECEPTOR PPM1F 9647 genome.wustl.edu 37 22 22277744 22277744 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014634.2 -1 reviewed p.F362L 1.000 34 0% 50 18% 14 21.4% benign(0.039) tolerated(1) neutral(0.002) HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C IGLV10-54 28772 genome.wustl.edu 37 22 22569446 22569446 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390287 +1 known p.N46K 0.000 53 0% 88 28.4% 26 0% possibly_damaging(0.89) deleterious(0.04) deleterious(0.699) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGLV1-50 28821 genome.wustl.edu 37 22 22682067 22682067 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390291 +1 known p.F83L 1.000 167 0% 78 33.3% 0 - possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV1-44 28823 genome.wustl.edu 37 22 22735489 22735489 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390297 +1 known p.S42 0.822 124 0% 81 25.9% 1671 1.7% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF280B 140883 genome.wustl.edu 37 22 22842316 22842316 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080764.2 -1 reviewed p.L470V 1.000 145 0% 110 38.2% 1 100% probably_damaging(0.982) tolerated(0.09) deleterious(0.723) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF280B 140883 genome.wustl.edu 37 22 22842526 22842526 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080764.2 -1 reviewed p.E400K 0.998 143 0% 83 28.9% 5 0% benign(0.119) deleterious(0) neutral(0.454) NULL ZNF280A 129025 genome.wustl.edu 37 22 22868407 22868407 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080740.3 -1 reviewed p.Q516 0.000 147 0% 214 34.6% 0 - - - - NULL IGLV2-14 28815 genome.wustl.edu 37 22 23101595 23101595 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390312 +1 known p.F83 0.999 154 0% 129 31% 1597 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLC3 3539 genome.wustl.edu 37 22 23248820 23248820 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000390325 +1 known p.Q103H 0.000 137 0% 126 11.1% 92 0% - - - superfamily_Immunoglobulin GNAZ 2781 genome.wustl.edu 37 22 23438189 23438189 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002073.2 +1 reviewed p.D103N 1.000 28 0% 62 30.6% 9 44.4% possibly_damaging(0.435) deleterious(0.02) deleterious(0.525) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF70 7621 genome.wustl.edu 37 22 24086177 24086177 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021916.2 -1 provisional p.R384I 0.509 103 0% 136 36.8% 4 25% possibly_damaging(0.446) tolerated(0.07) neutral(0.465) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SUSD2 56241 genome.wustl.edu 37 22 24583711 24583711 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019601.3 +1 validated p.F688L 1.000 65 0% 149 36.2% 3 0% probably_damaging(1) tolerated(1) deleterious(0.500) NULL UPB1 51733 genome.wustl.edu 37 22 24916374 24916374 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016327.2 +1 reviewed p.E271K 1.000 86 0% 73 39.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Carbon-nitrogen hydrolase MYO18B 84700 genome.wustl.edu 37 22 26243605 26243605 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032608.5 +1 reviewed p.R1254H 0.995 35 0% 20 40% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO18B 84700 genome.wustl.edu 37 22 26298640 26298640 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032608.5 +1 reviewed p.E1628D 1.000 76 0% 49 38.8% 0 - probably_damaging(0.973) tolerated(0.1) deleterious(0.702) NULL SEZ6L 23544 genome.wustl.edu 37 22 26688897 26688897 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021115.4 +1 validated p.S207L 0.136 28 0% 17 47.1% 0 - benign(0) tolerated(0.14) neutral(0.249) NULL MN1 4330 genome.wustl.edu 37 22 28194960 28194960 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002430.2 -1 reviewed p.Q524H 1.000 7 0.000 15 0.333 0 - benign(0.04) deleterious(0) neutral(0.447) NULL TTC28 23331 genome.wustl.edu 37 22 28503660 28503660 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145418.1 -1 validated p.I725L 1.000 136 0% 60 31.7% 2 0% benign(0) tolerated(0.69) neutral(0.002) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 CHEK2 11200 genome.wustl.edu 37 22 29092931 29092931 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005735.1 -1 reviewed p.E394D 0.999 173 0% 114 33.3% 12 25% probably_damaging(0.999) tolerated(0.43) deleterious(0.504) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CHEK2 11200 genome.wustl.edu 37 22 29095873 29095873 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001005735.1 -1 reviewed p.E364* 1.000 219 0% 156 28.2% 14 35.7% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C22orf31 25770 genome.wustl.edu 37 22 29456529 29456529 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015370.1 -1 predicted p.S102 0.000 173 0% 193 30.1% 0 - - - - NULL KREMEN1 83999 genome.wustl.edu 37 22 29533603 29533603 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032045.4 +1 reviewed p.I302T 0.999 124 0% 92 39.1% 10 50% probably_damaging(0.996) tolerated(0.09) deleterious(0.758) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB RFPL1 5988 genome.wustl.edu 37 22 29834829 29834829 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021026.2 +1 validated p.N17H 0.007 188 0% 103 28.2% 0 - benign(0.331) deleterious(0) deleterious(0.548) superfamily_SSF57850 THOC5 8563 genome.wustl.edu 37 22 29927941 29927941 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000443089 -1 known p.G102S 0.003 91 0% 85 9.4% 51 7.8% - - - HMMPfam_FimP NF2 4771 genome.wustl.edu 37 22 30069387 30069387 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000268.3 +1 reviewed p.R418C 0.986 63 0% 53 28.3% 26 42.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ERM MTMR3 8897 genome.wustl.edu 37 22 30418645 30418645 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021090.3 +1 reviewed p.C1128 0.941 73 0% 73 28.8% 25 44% - - - HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger LIF 3976 genome.wustl.edu 37 22 30639731 30639731 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002309.3 -1 reviewed p.S173L 0.297 220 0.5% 284 36.3% 5 20% benign(0.316) deleterious(0) deleterious(0.543) HMMPfam_LIF_OSM,HMMSmart_SM00080,superfamily_4-helical cytokines,PatternScan_LIF_OSM OSM 5008 genome.wustl.edu 37 22 30661073 30661073 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020530.3 -1 reviewed p.S32L 0.019 40 0% 75 45.3% 4 0% benign(0.001) deleterious(0) neutral(0.445) HMMPfam_LIF_OSM,HMMSmart_LIF_OSM,superfamily_4_helix_cytokine SEC14L4 284904 genome.wustl.edu 37 22 30885864 30885864 + Nonstop_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000381982 -1 known p.*361Y 0.262 143 0% 115 35.7% 0 - - - - NULL SEC14L4 284904 genome.wustl.edu 37 22 30891278 30891278 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174977.3 -1 reviewed p.E129G 1.000 36 0% 62 21% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain OSBP2 23762 genome.wustl.edu 37 22 31289464 31289464 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030758.3 +1 reviewed p.E669* 0.997 44 0% 57 29.8% 7 0% - - - HMMPfam_Oxysterol_BP INPP5J 27124 genome.wustl.edu 37 22 31521846 31521846 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000331075 +1 known p.G374V 0.382 155 0% 161 29.2% 5 60% benign(0) tolerated(0.33) neutral(0.024) NULL PLA2G3 50487 genome.wustl.edu 37 22 31534378 31534378 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015715.3 -1 validated p.Q222H 0.003 38 0% 48 29.2% 3 66.6% possibly_damaging(0.931) tolerated(0.18) neutral(0.433) HMMPfam_Phospholip_A2_2,superfamily_Phospholipase A2 PLA2 LIMK2 3985 genome.wustl.edu 37 22 31663018 31663018 + Nonsense_Mutation SNP C C T rs114127458 byCluster;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031801.1 +1 reviewed p.R343* 1.000 127 0% 144 24.3% 15 6.6% - - - superfamily_Kinase_like,HMMPfam_Pkinase PATZ1 23598 genome.wustl.edu 37 22 31724906 31724906 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014323.2 -1 reviewed p.F504L 1.000 64 0% 77 31.2% 6 16.6% possibly_damaging(0.636) deleterious(0.03) deleterious(0.587) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DEPDC5 9681 genome.wustl.edu 37 22 32272217 32272217 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014662.2 +1 validated p.F1226L 1.000 48 0% 38 13.2% 9 44.4% benign(0.001) tolerated(0.86) neutral(0.001) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" SLC5A1 6523 genome.wustl.edu 37 22 32495249 32495249 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000343.3 +1 reviewed p.D454N 1.000 81 0% 45 31.1% 1 100% probably_damaging(0.972) tolerated(0.33) neutral(0.438) HMMPfam_SSF RFPL2 10739 genome.wustl.edu 37 22 32589039 32589039 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006605.3 -1 validated p.D75N 0.003 235 0% 190 30% 0 - benign(0.158) deleterious(0.01) neutral(0.420) superfamily_RING/U-box RFPL2 10739 genome.wustl.edu 37 22 32589245 32589245 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006605.3 -1 validated p.L6R 0.006 132 0% 143 28% 0 - benign(0.325) deleterious(0) deleterious(0.546) NULL RFPL3 10738 genome.wustl.edu 37 22 32754222 32754222 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098535.1 +1 validated p.C55S 0.050 183 0% 245 29.4% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 BPIFC 254240 genome.wustl.edu 37 22 32828360 32828360 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174932.2 -1 validated p.F383 0.997 211 0% 116 28.4% 0 - - - - HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFC 254240 genome.wustl.edu 37 22 32838716 32838716 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174932.2 -1 validated p.L199 1.000 127 0% 79 25.3% 0 - - - - HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom LARGE 9215 genome.wustl.edu 37 22 33673202 33673202 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004737.4 -1 reviewed p.F639 0.832 45 0% 46 26.1% 50 42% - - - NULL HMOX1 3162 genome.wustl.edu 37 22 35782704 35782704 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002133.1 +1 reviewed p.I57 1.000 50 0% 93 32.3% 128 5.4% - - - HMMPfam_Heme_oxygenase,superfamily_Heme oxygenase-like RASD2 23551 genome.wustl.edu 37 22 35943100 35943100 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014310.3 +1 reviewed p.A82T 1.000 40 0% 81 33.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 MB 4151 genome.wustl.edu 37 22 36013223 36013223 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005368.2 -1 reviewed p.E28K 0.985 109 0% 96 30.2% 2 100% benign(0.37) tolerated(0.31) neutral(0.144) HMMPfam_Globin,superfamily_Globin_like APOL5 80831 genome.wustl.edu 37 22 36122366 36122366 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030642.1 +1 reviewed p.R84Q 0.000 152 0% 121 38% 0 - benign(0.013) tolerated(0.13) neutral(0.253) HMMPfam_ApoL APOL1 8542 genome.wustl.edu 37 22 36661638 36661638 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145343.2 +1 reviewed p.K268N 0.004 128 0% 107 29% 302 43.3% benign(0.046) tolerated(0.16) neutral(0.062) HMMPfam_ApoL MYH9 4627 genome.wustl.edu 37 22 36685153 36685153 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002473.4 -1 reviewed p.S1512F 1.000 82 0% 101 11.9% 424 17.4% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Myosin_tail_1,superfamily_Prefoldin CSF2RB 1439 genome.wustl.edu 37 22 37333883 37333883 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000395.2 +1 reviewed p.A678V 0.000 36 0% 36 19.4% 4 0% benign(0.01) tolerated(0.24) neutral(0.038) NULL TST 7263 genome.wustl.edu 37 22 37414453 37414453 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003312.4 -1 reviewed p.F107L 1.000 46 0% 64 32.8% 96 41.6% benign(0.047) tolerated(0.1) neutral(0.289) HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase TMPRSS6 164656 genome.wustl.edu 37 22 37470651 37470651 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153609.2 -1 reviewed p.C489 0.835 77 0% 128 39.1% 0 - - - - HMMSmart_SM00192,superfamily_LDL receptor-like module RAC2 5880 genome.wustl.edu 37 22 37628014 37628014 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002872.3 -1 reviewed p.F82L 1.000 81 0% 130 17.7% 103 0% benign(0.273) deleterious(0.02) neutral(0.412) HMMSmart_RHO,HMMPfam_Ras,superfamily_SSF52540 ELFN2 114794 genome.wustl.edu 37 22 37770419 37770419 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052906.3 -1 validated p.D386Y 0.416 108 0% 192 27.6% 1 0% possibly_damaging(0.921) deleterious(0) deleterious(0.816) NULL TRIOBP 11078 genome.wustl.edu 37 22 38131127 38131127 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039141.2 +1 reviewed p.R1595H 0.000 22 0% 25 40% 0 - benign(0.015) deleterious(0.01) neutral(0.406) NULL C22orf23 84645 genome.wustl.edu 37 22 38341156 38341156 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032561.2 -1 predicted p.R125I 0.980 210 0% 242 28.1% 6 33.3% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_UPF0193 SUN2 25777 genome.wustl.edu 37 22 39137526 39137526 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015374.1 -1 validated p.L373 0.993 121 0% 168 34.5% 88 37.5% - - - NULL APOBEC3D 140564 genome.wustl.edu 37 22 39428206 39428206 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152426.3 +1 reviewed p.F349C 0.033 135 0% 218 27.1% 12 8.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_APOBEC_C,superfamily_Cytidine deaminase-like TNRC6B 23112 genome.wustl.edu 37 22 40642051 40642051 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015088.2 +1 validated p.M13T 1.000 120 0% 138 28.3% 4 25% unknown(0) tolerated(0.17) - NULL ADSL 158 genome.wustl.edu 37 22 40762521 40762521 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000026.2 +1 reviewed p.L484M 0.181 189 0% 279 34.1% 47 27.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MCHR1 2847 genome.wustl.edu 37 22 41077596 41077596 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005297.3 +1 reviewed p.A311 1.000 51 0% 80 11.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like EP300 2033 genome.wustl.edu 37 22 41523520 41523520 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001429.3 +1 reviewed p.Q312H 0.998 36 0% 21 23.8% 10 0% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL EP300 2033 genome.wustl.edu 37 22 41564555 41564555 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001429.3 +1 reviewed p.V1326A 1.000 138 0% 82 30.5% 19 52.6% unknown(0) deleterious(0) - HMMPfam_DUF906 EP300 2033 genome.wustl.edu 37 22 41564750 41564750 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001429.3 +1 reviewed p.E1351* 1.000 224 0% 133 30.8% 21 19% - - - HMMPfam_DUF906 EP300 2033 genome.wustl.edu 37 22 41568562 41568562 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001429.3 +1 reviewed p.F1504 1.000 211 0% 140 35.7% 12 8.3% - - - HMMPfam_DUF906 PHF5A 84844 genome.wustl.edu 37 22 41864135 41864135 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032758.3 -1 reviewed p.C23 1.000 131 0% 186 33.9% 101 51.4% - - - HMMPfam_PHF5 SREBF2 6721 genome.wustl.edu 37 22 42269956 42269956 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004599.2 +1 reviewed p.R341Q 1.000 83 0% 65 40% 56 35.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic WBP2NL 164684 genome.wustl.edu 37 22 42415373 42415373 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152613.2 +1 validated p.N41H 0.000 152 0% 113 31% 2 50% possibly_damaging(0.917) tolerated(0.07) deleterious(0.687) NULL WBP2NL 164684 genome.wustl.edu 37 22 42418308 42418308 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152613.2 +1 validated p.I154M 0.017 253 0% 207 35.3% 1 0% probably_damaging(0.953) tolerated(0.15) deleterious(0.637) HMMPfam_WWbp NDUFA6 4700 genome.wustl.edu 37 22 42483072 42483072 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002490.3 -1 validated p.V109F 1.000 113 0% 184 25.5% 507 62.7% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Complex1_LYR CYP2D6 1565 genome.wustl.edu 37 22 42524294 42524294 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000106.4 -1 reviewed p.R242H 0.000 100 0% 158 15.8% 17 41.1% benign(0.05) tolerated(0.07) neutral(0.322) HMMPfam_p450,superfamily_Cytochrome_P450 LOC100289204 100289204 genome.wustl.edu 37 22 42538794 42538794 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343781.1 +1 model p.F284V 0.991 22 0% 52 21.2% 11 27.2% unknown(0) deleterious(0) - NULL TCF20 6942 genome.wustl.edu 37 22 42606069 42606069 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005650.1 -1 reviewed p.K1748T 1.000 79 0% 77 33.8% 41 43.9% benign(0.001) tolerated(0.38) neutral(0.018) NULL TCF20 6942 genome.wustl.edu 37 22 42609916 42609916 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005650.1 -1 reviewed p.L466I 1.000 79 0% 67 20.9% 13 61.5% probably_damaging(0.996) tolerated(0.59) neutral(0.466) NULL PACSIN2 11252 genome.wustl.edu 37 22 43272953 43272953 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007229.3 -1 reviewed p.F364 1.000 239 0% 374 36.1% 57 33.3% - - - NULL EFCAB6 64800 genome.wustl.edu 37 22 43986030 43986030 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022785.2 -1 validated p.I986V 0.000 333 0% 182 40.1% 1 0% benign(0) tolerated(1) - superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 44168937 44168937 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022785.2 -1 validated p.R62 1.000 151 0% 155 29.7% 0 - - - - NULL PNPLA3 80339 genome.wustl.edu 37 22 44323041 44323041 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_025225.2 +1 reviewed p.V138 0.009 54 0% 92 25% 6 0% - - - HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like PARVG 64098 genome.wustl.edu 37 22 44602300 44602300 + Silent SNP G G A rs191035480 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001137605.1 +1 validated p.P330 0.002 45 0% 92 22.8% 35 14.2% - - - NULL PHF21B 112885 genome.wustl.edu 37 22 45281810 45281810 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138415.3 -1 validated p.K402N 1.000 42 0% 81 22.2% 6 0% benign(0.021) tolerated(0.11) neutral(0.273) superfamily_FYVE/PHD zinc finger KIAA0930 23313 genome.wustl.edu 37 22 45599857 45599857 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015264.1 -1 validated p.D181N 1.000 93 0% 156 37.2% 73 23.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2045 SMC1B 27127 genome.wustl.edu 37 22 45749941 45749941 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_148674.3 -1 validated p.D1064N 1.000 188 0% 123 35.8% 1 100% benign(0.218) tolerated(0.24) neutral(0.059) HMMPfam_SMC_N,superfamily_SSF52540 PKDREJ 10343 genome.wustl.edu 37 22 46656711 46656711 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006071.1 -1 reviewed p.L837I 0.003 157 0% 281 32.7% 0 - probably_damaging(0.996) tolerated(0.24) deleterious(0.499) NULL CELSR1 9620 genome.wustl.edu 37 22 46760421 46760421 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014246.1 -1 reviewed p.E2923K 0.999 8 0.000 27 0.370 27 48.1% probably_damaging(0.981) tolerated(0.61) neutral(0.429) NULL CELSR1 9620 genome.wustl.edu 37 22 46780525 46780525 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014246.1 -1 reviewed p.F2266 0.000 98 0% 144 21.5% 14 28.5% - - - superfamily_Concanavalin A-like lectins/glucanases CELSR1 9620 genome.wustl.edu 37 22 46793691 46793691 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014246.1 -1 reviewed p.A1861T 0.999 108 0% 206 26.7% 21 61.9% benign(0.047) tolerated(1) neutral(0.003) superfamily_Concanavalin A-like lectins/glucanases GRAMD4 23151 genome.wustl.edu 37 22 47068864 47068864 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015124.2 +1 validated p.K403N 1.000 20 0% 51 21.6% 14 35.7% probably_damaging(0.993) tolerated(0.14) deleterious(0.700) NULL BRD1 23774 genome.wustl.edu 37 22 50171386 50171386 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014577.1 -1 reviewed p.R847Q 0.999 16 0% 20 25% 45 53.3% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) NULL BRD1 23774 genome.wustl.edu 37 22 50216753 50216753 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014577.1 -1 reviewed p.E405K 0.811 135 0% 203 32% 26 50% possibly_damaging(0.741) tolerated(0.23) neutral(0.313) NULL ENSG00000248043 0 genome.wustl.edu 37 22 50297911 50297911 + RNA SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000499173 +1 known NULL 0.000 27 0% 44 22.7% 3 0% - - - - CRELD2 79174 genome.wustl.edu 37 22 50313828 50313828 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024324.3 +1 validated p.F116 0.901 181 0% 335 31.3% 92 19.5% - - - superfamily_Growth factor receptor domain TTLL8 164714 genome.wustl.edu 37 22 50454857 50454857 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080447.1 -1 provisional p.G780S 0.031 12 0% 23 26.1% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL TTLL8 164714 genome.wustl.edu 37 22 50487712 50487712 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001080447.1 -1 provisional p.A77V 0.001 264 0% 465 24.9% 0 - benign(0.049) tolerated(0.5) neutral(0.013) NULL MOV10L1 54456 genome.wustl.edu 37 22 50564673 50564673 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018995.2 +1 reviewed p.A597V 0.900 101 0% 93 32.3% 0 - benign(0) tolerated(0.32) neutral(0.024) NULL MOV10L1 54456 genome.wustl.edu 37 22 50566933 50566933 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018995.2 +1 reviewed p.N636T 0.095 125 0% 79 31.6% 0 - possibly_damaging(0.572) tolerated(0.37) neutral(0.215) NULL MOV10L1 54456 genome.wustl.edu 37 22 50581594 50581594 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018995.2 +1 reviewed p.L768I 0.991 100 0% 103 31.1% 0 - possibly_damaging(0.939) tolerated(1) neutral(0.385) superfamily_P-loop containing nucleoside triphosphate hydrolases MOV10L1 54456 genome.wustl.edu 37 22 50584181 50584181 + Missense_Mutation SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018995.2 +1 reviewed p.F857I 0.512 68 0% 73 26% 0 - possibly_damaging(0.836) tolerated(0.18) neutral(0.376) superfamily_P-loop containing nucleoside triphosphate hydrolases TUBGCP6 85378 genome.wustl.edu 37 22 50664718 50664718 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020461.3 -1 reviewed p.R564Q 1.000 68 0% 117 25.6% 31 45.1% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Spc97_Spc98 FAM116B 414918 genome.wustl.edu 37 22 50754655 50754655 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001794.3 -1 validated p.A196V 0.066 28 0% 55 34.5% 14 21.4% benign(0.011) tolerated(0.21) neutral(0.044) HMMPfam_DUF1630 NCAPH2 29781 genome.wustl.edu 37 22 50954920 50954920 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152299.3 +1 reviewed p.M51I 1.000 164 0% 331 33.2% 73 43.8% possibly_damaging(0.797) tolerated(0.06) deleterious(0.622) HMMPfam_DUF1032 MAPK8IP2 23542 genome.wustl.edu 37 22 51048402 51048402 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000008876 +1 known p.T528 0.000 9 0.000 9 0.444 3 33.3% - - - HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 KIR2DL5B 553128 genome.wustl.edu 37 GL000209.1 73897 73897 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000400847 +1 known p.R187C NULL 403 0% 240 30.8% 0 - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin KIR2DL5B 553128 genome.wustl.edu 37 GL000209.1 88390 88390 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000400846 +1 known p.R50 NULL 297 0% 226 27.4% 0 - - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 ENSG00000215608 0 genome.wustl.edu 37 GL000212.1 126724 126724 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000400673 +1 known p.R140I NULL 85 0% 181 34.3% 18 0% - - - NULL SHOX 6473 genome.wustl.edu 37 X 595372 595372 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000451.3 +1 reviewed p.E99D 0.997 91 0% 148 30.4% 0 - benign(0.001) tolerated(0.37) neutral(0.019) NULL CSF2RA 1438 genome.wustl.edu 37 X 1401626 1401626 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006140.4 +1 reviewed p.L10 0.001 331 0% 290 32.1% 7 0% - - - NULL CSF2RA 1438 genome.wustl.edu 37 X 1407423 1407423 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006140.4 +1 reviewed p.N77 0.000 299 0% 323 31% 9 0% - - - NULL SLC25A6 293 genome.wustl.edu 37 X 1508569 1508569 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001636.3 -1 reviewed p.V55M 1.000 78 0% 122 31.1% 1637 39.9% benign(0) tolerated(0.2) neutral(0.049) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr P2RY8 286530 genome.wustl.edu 37 X 1584506 1584506 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178129.4 -1 reviewed p.D316Y 0.031 38 0% 72 29.2% 1 0% possibly_damaging(0.46) tolerated(0.06) deleterious(0.474) superfamily_SSF81321 P2RY8 286530 genome.wustl.edu 37 X 1584669 1584669 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178129.4 -1 reviewed p.I261 0.714 36 0% 78 30.8% 8 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 GYG2 8908 genome.wustl.edu 37 X 2772043 2772043 + Missense_Mutation SNP G G A rs192438244 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003918.2 +1 reviewed p.D89N 1.000 121 0% 111 28.8% 7 28.5% probably_damaging(0.974) tolerated(0.1) deleterious(0.702) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases MXRA5 25878 genome.wustl.edu 37 X 3239176 3239176 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015419.3 -1 reviewed p.R1517I 0.000 318 0% 373 37% 7 71.4% benign(0.008) deleterious(0) neutral(0.445) NULL MXRA5 25878 genome.wustl.edu 37 X 3239336 3239336 + Missense_Mutation SNP G G T rs41305155 byCluster;byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015419.3 -1 reviewed p.H1464N 0.000 161 0% 182 28.6% 7 71.4% benign(0.038) tolerated(0.44) neutral(0.015) NULL LOC100128355 100128355 genome.wustl.edu 37 X 3635394 3635394 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343797.1 +1 model p.L137I 1.000 11 0% 20 40% 0 - - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like NLGN4X 57502 genome.wustl.edu 37 X 5811117 5811117 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020742.2 -1 reviewed p.S731Y 0.998 269 0% 215 34.9% 31 38.7% possibly_damaging(0.763) deleterious(0) deleterious(0.728) NULL NLGN4X 57502 genome.wustl.edu 37 X 5811289 5811289 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020742.2 -1 reviewed p.E674* 0.998 308 0% 239 29.7% 13 46.1% - - - NULL STS 412 genome.wustl.edu 37 X 7177469 7177469 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000351.4 +1 reviewed p.F159L 1.000 163 0% 107 34.6% 8 62.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core FAM9B 171483 genome.wustl.edu 37 X 8995915 8995915 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_205849.2 -1 validated p.F162 0.010 403 0% 462 31.6% 0 - - - - HMMPfam_Cor1 FAM9B 171483 genome.wustl.edu 37 X 8998326 8998326 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_205849.2 -1 validated p.A86D 0.029 514 0.2% 682 29.8% 0 - benign(0.331) deleterious(0.01) deleterious(0.510) HMMPfam_Cor1 GPR143 4935 genome.wustl.edu 37 X 9727443 9727443 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000447366 -1 known p.C64R 0.936 87 0% 99 14.1% 14 0% - - - HMMPfam_Ocular_alb SHROOM2 357 genome.wustl.edu 37 X 9912833 9912833 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001649.2 +1 reviewed p.F1488 1.000 88 0% 100 31% 8 0% - - - HMMPfam_ASD2 WWC3 55841 genome.wustl.edu 37 X 10096130 10096130 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015691.3 +1 validated p.R737W 0.000 57 0% 104 24% 13 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL CLCN4 1183 genome.wustl.edu 37 X 10201541 10201541 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001830.3 +1 reviewed p.L734I 1.000 132 0% 63 31.7% 2 100% possibly_damaging(0.589) tolerated(0.06) deleterious(0.526) HMMPfam_CBS,HMMSmart_SM00116,superfamily_CBS-domain ARHGAP6 395 genome.wustl.edu 37 X 11682706 11682706 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013427.2 -1 reviewed p.S81 0.003 20 0% 51 27.5% 0 - - - - NULL MSL3 10943 genome.wustl.edu 37 X 11781098 11781098 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_078629.2 +1 reviewed p.Y244S 0.993 187 0% 244 34.4% 31 83.8% probably_damaging(0.962) tolerated(0.38) neutral(0.423) HMMPfam_MRG MSL3 10943 genome.wustl.edu 37 X 11786782 11786782 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_078629.2 +1 reviewed p.R421I 1.000 218 0% 189 28.6% 28 0% benign(0.132) deleterious(0.01) neutral(0.417) HMMPfam_MRG FRMPD4 9758 genome.wustl.edu 37 X 12692996 12692996 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014728.3 +1 reviewed p.S146L 1.000 330 0% 127 33.9% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ FRMPD4 9758 genome.wustl.edu 37 X 12734918 12734918 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014728.3 +1 reviewed p.I780 1.000 69 0% 55 38.2% 0 - - - - NULL TLR7 51284 genome.wustl.edu 37 X 12904831 12904831 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016562.3 +1 reviewed p.L402I 0.988 61 0% 19 42.1% 0 - probably_damaging(0.998) tolerated(0.58) deleterious(0.479) HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like TLR8 51311 genome.wustl.edu 37 X 12937648 12937648 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138636.4 +1 reviewed p.K163 0.000 78 0% 44 29.5% 0 - - - - superfamily_SSF52047 EGFL6 25975 genome.wustl.edu 37 X 13635870 13635870 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015507.3 +1 reviewed p.K267R 1.000 111 0% 171 32.7% 8 0% possibly_damaging(0.795) tolerated(0.24) neutral(0.336) NULL EGFL6 25975 genome.wustl.edu 37 X 13651188 13651188 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015507.3 +1 reviewed p.D546Y 0.032 221 0% 220 27.3% 13 84.6% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_MAM,HMMSmart_SM00137 TCEANC 170082 genome.wustl.edu 37 X 13680893 13680893 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152634.2 +1 validated p.S119N 0.007 83 0% 53 13.2% 0 - benign(0.013) tolerated(0.33) neutral(0.025) HMMPfam_TFIIS TRAPPC2 6399 genome.wustl.edu 37 X 13734159 13734159 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001011658.3 -1 reviewed p.K96N 1.000 79 0% 48 35.4% 8 25% possibly_damaging(0.775) deleterious(0) deleterious(0.733) HMMPfam_Sedlin_N,superfamily_SNARE-like OFD1 8481 genome.wustl.edu 37 X 13762557 13762557 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003611.2 +1 reviewed p.E146* 0.814 135 0% 152 35.5% 4 0% - - - NULL OFD1 8481 genome.wustl.edu 37 X 13765058 13765058 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003611.2 +1 reviewed p.H272N 0.999 52 0% 45 22.2% 1 0% benign(0) tolerated(0.31) neutral(0.027) NULL OFD1 8481 genome.wustl.edu 37 X 13780500 13780500 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003611.2 +1 reviewed p.E809* 0.014 91 0% 53 35.8% 20 0% - - - NULL OFD1 8481 genome.wustl.edu 37 X 13786292 13786292 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003611.2 +1 reviewed p.E959D 0.984 57 0% 38 28.9% 22 77.2% unknown(0) deleterious(0) - NULL GLRA2 2742 genome.wustl.edu 37 X 14548223 14548223 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001118885.1 +1 reviewed p.F15C 1.000 173 0% 77 27.3% 0 - benign(0) tolerated(0.16) neutral(0.059) NULL MOSPD2 158747 genome.wustl.edu 37 X 14932667 14932667 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152581.3 +1 validated p.E345D 1.000 92 0% 27 29.6% 3 0% possibly_damaging(0.891) tolerated(0.25) neutral(0.387) HMMPfam_Motile_Sperm,superfamily_PapD-like ASB11 140456 genome.wustl.edu 37 X 15306080 15306080 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080873.1 -1 reviewed p.R257I 0.155 99 0% 96 32.3% 0 - possibly_damaging(0.444) deleterious(0) deleterious(0.590) HMMPfam_Ank,superfamily_ANK ASB11 140456 genome.wustl.edu 37 X 15332526 15332526 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012428.1 -1 reviewed p.S28Y 0.752 200 0% 174 29.9% 0 - benign(0.174) deleterious(0) neutral(0.461) superfamily_Ankyrin repeat PIGA 5277 genome.wustl.edu 37 X 15344081 15344081 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002641.2 -1 reviewed p.R268I 1.000 164 0% 157 33.8% 4 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Glycos_transf_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase FIGF 2277 genome.wustl.edu 37 X 15376294 15376294 + Missense_Mutation SNP C C A rs78901600 byCluster;byFrequency;by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004469.2 -1 reviewed p.R108I 0.939 152 0% 118 34.7% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_Cystine-knot cytokines PIR 8544 genome.wustl.edu 37 X 15408363 15408363 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001018109.1 -1 reviewed p.R235I 0.957 125 0% 85 21.2% 139 0% benign(0.006) tolerated(0.14) neutral(0.249) HMMPfam_Pirin_C,superfamily_RmlC_like_cupin BMX 660 genome.wustl.edu 37 X 15527515 15527515 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001721.6 +1 reviewed p.L68I 0.800 190 0.5% 98 31.6% 2 50% benign(0) tolerated(0.23) neutral(0.042) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 BMX 660 genome.wustl.edu 37 X 15560135 15560135 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001721.6 +1 reviewed p.F475L 1.000 125 0% 50 30% 5 40% benign(0) tolerated(1) - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like ACE2 59272 genome.wustl.edu 37 X 15596253 15596253 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021804.2 -1 reviewed p.K419T 0.993 134 0% 39 33.3% 1 100% possibly_damaging(0.783) deleterious(0.01) deleterious(0.699) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" S100G 795 genome.wustl.edu 37 X 16669190 16669190 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004057.2 +1 reviewed p.E21* 1.000 123 0% 77 37.7% 0 - - - - HMMPfam_S_100,superfamily_SSF47473 REPS2 9185 genome.wustl.edu 37 X 17070539 17070539 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004726.2 +1 reviewed p.K314N 1.000 183 0% 96 30.2% 15 93.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00027,superfamily_EF-hand REPS2 9185 genome.wustl.edu 37 X 17165584 17165584 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004726.2 +1 reviewed p.R655C 1.000 128 0% 98 36.7% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NHS 4810 genome.wustl.edu 37 X 17746422 17746422 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198270.2 +1 reviewed p.G1378V 0.714 63 0% 76 30.3% 14 78.5% probably_damaging(0.953) tolerated(0.06) deleterious(0.719) NULL SCML1 6322 genome.wustl.edu 37 X 17768048 17768048 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037540.1 +1 validated p.L113P 0.000 54 0% 42 28.6% 13 0% benign(0) tolerated(0.09) neutral(0.296) NULL BEND2 139105 genome.wustl.edu 37 X 18195788 18195788 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153346.4 -1 validated p.R511C 0.038 241 0% 101 31.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_BEN BEND2 139105 genome.wustl.edu 37 X 18234646 18234646 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153346.4 -1 validated p.S78* 0.002 297 0% 307 29% 0 - - - - NULL SCML2 10389 genome.wustl.edu 37 X 18264743 18264743 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000420857 -1 known p.R108K 0.000 183 0% 98 15.3% 0 - - - - NULL CDKL5 6792 genome.wustl.edu 37 X 18622693 18622693 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037343.1 +1 reviewed p.R550Q 0.995 185 0% 125 27.2% 0 - probably_damaging(0.994) tolerated(0.08) deleterious(0.752) NULL CDKL5 6792 genome.wustl.edu 37 X 18622812 18622812 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037343.1 +1 reviewed p.E590K 1.000 161 0% 98 26.5% 2 0% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL RS1 6247 genome.wustl.edu 37 X 18662663 18662663 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000330.3 -1 reviewed p.L137I 1.000 99 0% 131 32.1% 0 - possibly_damaging(0.902) tolerated(1) neutral(0.357) HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,superfamily_Gal_bind_like PPEF1 5475 genome.wustl.edu 37 X 18725934 18725934 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006240.2 +1 reviewed p.R12K 0.000 158 0% 103 35.9% 0 - benign(0) tolerated(1) - NULL PPEF1 5475 genome.wustl.edu 37 X 18845433 18845433 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006240.2 +1 reviewed p.L597R 1.000 131 0% 127 23.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand,superfamily_Metallo-dependent phosphatases ENSG00000250774 0 genome.wustl.edu 37 X 18917405 18917405 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000502927 +1 known NULL 0.000 153 0% 214 33.2% 2 0% - - - - PHKA2 5256 genome.wustl.edu 37 X 18958126 18958126 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000292.2 -1 reviewed p.K302T 1.000 126 0% 122 28.7% 4 0% benign(0.26) deleterious(0.01) neutral(0.433) HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases GPR64 10149 genome.wustl.edu 37 X 19014171 19014171 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079858.2 -1 validated p.S905Y 1.000 192 0% 133 29.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Family A G protein-coupled receptor-like GPR64 10149 genome.wustl.edu 37 X 19025359 19025359 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079858.2 -1 validated p.P561 0.000 214 0% 104 34.6% 0 - - - - NULL GPR64 10149 genome.wustl.edu 37 X 19045393 19045393 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079858.2 -1 validated e9-1 1.000 177 0% 94 9.6% 0 - - - - - GPR64 10149 genome.wustl.edu 37 X 19055751 19055751 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001079858.2 -1 validated p.K53T 0.908 86 0% 27 29.6% 0 - benign(0.069) deleterious(0.01) neutral(0.410) NULL MAP3K15 389840 genome.wustl.edu 37 X 19387212 19387212 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001671.3 -1 validated p.L651M 0.266 68 0% 81 22.2% 0 - probably_damaging(0.982) tolerated(0.21) deleterious(0.470) NULL MAP3K15 389840 genome.wustl.edu 37 X 19425370 19425370 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001001671.3 -1 validated p.L69I 1.000 187 0% 108 38% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL CXorf23 256643 genome.wustl.edu 37 X 19984324 19984324 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198279.3 -1 validated p.S162Y 1.000 321 0% 259 32.8% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MAP7D2 256714 genome.wustl.edu 37 X 20074839 20074839 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152780.3 -1 validated p.S148L 0.993 75 0% 54 25.9% 1 100% unknown(0) deleterious(0.01) - NULL RPS6KA3 6197 genome.wustl.edu 37 X 20194405 20194405 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004586.2 -1 reviewed p.F355L 1.000 225 0% 98 11.2% 5 20% benign(0.004) tolerated(0.6) neutral(0.004) HMMSmart_S_TK_X,HMMPfam_Pkinase_C CNKSR2 22866 genome.wustl.edu 37 X 21444748 21444748 + Silent SNP C C A rs113885403 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014927.3 +1 reviewed p.I66 0.991 183 0% 94 20.2% 1 0% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain CNKSR2 22866 genome.wustl.edu 37 X 21550056 21550056 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014927.3 +1 reviewed p.N392H 1.000 98 0% 35 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1170 CNKSR2 22866 genome.wustl.edu 37 X 21579612 21579612 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014927.3 +1 reviewed p.P443T 1.000 247 0% 127 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1170 CNKSR2 22866 genome.wustl.edu 37 X 21667093 21667093 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014927.3 +1 reviewed p.P946H 1.000 56 0% 73 27.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SMPX 23676 genome.wustl.edu 37 X 21755706 21755706 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014332.1 -1 provisional p.K81R 1.000 347 0% 115 26.1% 0 - possibly_damaging(0.921) tolerated(0.39) neutral(0.387) NULL MBTPS2 51360 genome.wustl.edu 37 X 21871504 21871504 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015884.3 +1 reviewed p.R185* 1.000 360 0% 437 32.5% 1 0% - - - HMMPfam_Peptidase_M50 MBTPS2 51360 genome.wustl.edu 37 X 21896624 21896624 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015884.3 +1 reviewed p.L359I 1.000 68 0% 40 25% 1 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Peptidase_M50 SMS 6611 genome.wustl.edu 37 X 21990679 21990679 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004595.2 +1 reviewed p.R107W 0.753 112 0% 89 28.1% 93 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PHEX 5251 genome.wustl.edu 37 X 22065220 22065220 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000444.4 +1 reviewed p.F80L 1.000 255 0% 121 36.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Peptidase_M13_N,superfamily_SSF55486 ZNF645 158506 genome.wustl.edu 37 X 22291136 22291136 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152577.2 +1 provisional p.E10* 0.027 93 0% 81 25.9% 0 - - - - NULL ZNF645 158506 genome.wustl.edu 37 X 22291302 22291302 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152577.2 +1 provisional p.K65T 1.000 78 0% 74 23% 0 - possibly_damaging(0.892) tolerated(0.06) deleterious(0.674) HMMSmart_RING,superfamily_SSF57850 PTCHD1 139411 genome.wustl.edu 37 X 23410889 23410889 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173495.2 +1 validated p.L418 1.000 114 0% 60 35% 0 - - - - HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain SAT1 6303 genome.wustl.edu 37 X 23801480 23801480 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002970.2 +1 reviewed p.F4 1.000 37 0% 103 35.9% 942 0% - - - superfamily_Acyl-CoA N-acyltransferases (Nat) KLHL15 80311 genome.wustl.edu 37 X 24024329 24024329 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030624.2 -1 reviewed p.N161T 1.000 88 0% 88 36.4% 6 0% possibly_damaging(0.766) deleterious(0.01) deleterious(0.690) HMMPfam_BACK FAM48B2 170067 genome.wustl.edu 37 X 24329515 24329515 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136233.1 -1 provisional p.L640I 0.000 56 0% 76 36.8% 0 - - - - NULL FAM48B1 100130302 genome.wustl.edu 37 X 24382958 24382958 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001136234.1 +1 inferred p.A694V 0.000 76 0% 107 40.2% 0 - - - - NULL PDK3 5165 genome.wustl.edu 37 X 24512886 24512886 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142386.2 +1 reviewed p.S45* 1.000 158 0% 72 13.9% 8 0% - - - HMMPfam_BCDHK_Adom3,superfamily_SSF69012 PDK3 5165 genome.wustl.edu 37 X 24516957 24516957 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142386.2 +1 reviewed p.S87I 1.000 70 0% 53 34% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BCDHK_Adom3,superfamily_SSF69012 PDK3 5165 genome.wustl.edu 37 X 24521470 24521470 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142386.2 +1 reviewed p.R116I 1.000 151 0% 73 17.8% 6 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_BCDHK_Adom3,superfamily_SSF69012 POLA1 5422 genome.wustl.edu 37 X 24732774 24732774 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016937.3 +1 reviewed p.K144N 1.000 153 0% 220 35% 3 0% benign(0.097) deleterious(0.01) neutral(0.413) NULL POLA1 5422 genome.wustl.edu 37 X 24746001 24746001 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016937.3 +1 reviewed p.V539A 1.000 169 0% 125 30.4% 7 0% possibly_damaging(0.725) deleterious(0.01) deleterious(0.669) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold POLA1 5422 genome.wustl.edu 37 X 24761441 24761441 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016937.3 +1 reviewed p.K848R 1.000 118 0% 120 34.2% 5 100% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_SSF56672 LOC389842 389842 genome.wustl.edu 37 X 25663903 25663903 + Missense_Mutation SNP G G A rs189723016 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_372200.7 -1 model p.A181V 1.000 69 0% 170 14.7% 0 - - - - NULL MAGEB10 139422 genome.wustl.edu 37 X 27839534 27839534 + Missense_Mutation SNP A A C rs181085989 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182506.3 +1 reviewed p.E37D 0.000 69 0% 45 28.9% 0 - probably_damaging(0.991) tolerated(0.37) neutral(0.463) NULL MAGEB10 139422 genome.wustl.edu 37 X 27839798 27839798 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182506.3 +1 reviewed p.K125N 0.001 74 0% 69 14.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE MAGEB3 4114 genome.wustl.edu 37 X 30254511 30254511 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002365.4 +1 reviewed p.S157Y 0.004 227 0% 157 22.9% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_MAGE NR0B1 190 genome.wustl.edu 37 X 30322827 30322827 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000475.4 -1 reviewed p.E428K 0.982 231 0% 276 29.7% 0 - probably_damaging(0.995) tolerated(0.44) deleterious(0.470) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain GK 2710 genome.wustl.edu 37 X 30714788 30714788 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128127.1 +1 reviewed p.I239 1.000 132 0% 103 30.1% 4 0% - - - HMMPfam_FGGY_N,superfamily_SSF53067 GK 2710 genome.wustl.edu 37 X 30719022 30719022 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128127.1 +1 reviewed p.T278M 1.000 144 0% 82 28% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FGGY_C,superfamily_SSF53067 TAB3 257397 genome.wustl.edu 37 X 30864692 30864692 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152787.3 -1 reviewed p.E594* 1.000 283 0% 164 30.5% 3 0% - - - NULL TAB3 257397 genome.wustl.edu 37 X 30877657 30877657 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152787.3 -1 reviewed p.R17* 1.000 96 0% 65 12.3% 5 0% - - - HMMPfam_CUE,HMMSmart_SM00546 DMD 1756 genome.wustl.edu 37 X 31187717 31187717 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004006.2 -1 reviewed p.D3466Y 1.000 108 0% 28 21.4% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DMD 1756 genome.wustl.edu 37 X 31747823 31747823 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004006.2 -1 reviewed p.E2529* 1.000 315 0% 342 32.7% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 31950304 31950304 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004006.2 -1 reviewed p.D2219Y 1.000 228 0% 93 26.9% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32305759 32305759 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004006.2 -1 reviewed p.K2059N 1.000 219 0% 92 32.6% 0 - possibly_damaging(0.692) tolerated(0.27) neutral(0.281) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32456459 32456459 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004006.2 -1 reviewed p.R1324C 1.000 234 0% 89 24.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FAM47A 158724 genome.wustl.edu 37 X 34148342 34148342 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203408.3 -1 validated p.S685Y 0.004 175 0% 134 32.1% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL CXorf22 170063 genome.wustl.edu 37 X 35993332 35993332 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152632.3 +1 validated p.N775D 1.000 156 0% 77 33.8% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CXorf59 286464 genome.wustl.edu 37 X 36156104 36156104 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173695.2 +1 validated p.N359H 0.999 251 0% 44 22.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Calponin-homology CXorf30 645090 genome.wustl.edu 37 X 36322043 36322043 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001098843.3 +1 validated p.N130H 0.418 115 0% 54 29.6% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FAM47C 442444 genome.wustl.edu 37 X 37026901 37026901 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013736.2 +1 validated p.D140Y 0.034 129 0% 127 36.2% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL LANCL3 347404 genome.wustl.edu 37 X 37534988 37534988 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000378619 +1 known p.F395 1.000 249 0% 178 30.3% 1 0% - - - HMMPfam_LANC_like XK 7504 genome.wustl.edu 37 X 37587470 37587470 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021083.2 +1 reviewed p.L364I 1.000 140 0% 70 32.9% 0 - possibly_damaging(0.837) tolerated(0.46) neutral(0.332) HMMPfam_XK-related RPGR 6103 genome.wustl.edu 37 X 38145082 38145082 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001034853.1 -1 reviewed p.R1057M 0.009 470 0% 485 29.9% 1 0% unknown(0) deleterious(0.03) - NULL RPGR 6103 genome.wustl.edu 37 X 38147138 38147138 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001034853.1 -1 reviewed p.E577K 0.000 298 0% 232 33.6% 6 0% possibly_damaging(0.895) tolerated(0.07) deleterious(0.672) NULL RPGR 6103 genome.wustl.edu 37 X 38158319 38158319 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001034853.1 -1 reviewed p.E379* 0.021 104 0% 55 27.3% 3 0% - - - NULL RPGR 6103 genome.wustl.edu 37 X 38163930 38163930 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001034853.1 -1 reviewed p.S298R 0.004 118 0% 65 26.2% 4 0% benign(0.081) tolerated(0.37) neutral(0.025) HMMPfam_RCC1,superfamily_RCC1/BLIP-II OTC 5009 genome.wustl.edu 37 X 38271206 38271206 + Missense_Mutation SNP G G A rs72558474 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000531.5 +1 reviewed p.R320Q 0.009 161 0% 77 28.6% 8 0% possibly_damaging(0.496) tolerated(0.1) neutral(0.452) superfamily_Aspartate/ornithine carbamoyltransferase,HMMPfam_OTCace BCOR 54880 genome.wustl.edu 37 X 39922896 39922896 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001123385.1 -1 reviewed p.S1271L 0.977 229 0% 323 29.1% 27 22.2% benign(0.001) deleterious(0.01) neutral(0.406) NULL BCOR 54880 genome.wustl.edu 37 X 39930238 39930238 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001123385.1 -1 reviewed p.E1076K 0.996 265 0% 312 35.3% 28 10.7% benign(0.003) tolerated(0.37) neutral(0.019) NULL BCOR 54880 genome.wustl.edu 37 X 39933287 39933287 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001123385.1 -1 reviewed p.D438Y 1.000 94 0% 106 28.3% 13 23% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BCOR 54880 genome.wustl.edu 37 X 39937177 39937177 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001123385.1 -1 reviewed p.L2 1.000 82 0% 162 13% 5 40% - - - NULL MED14 9282 genome.wustl.edu 37 X 40568698 40568698 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004229.3 -1 reviewed p.S396* 1.000 94 0% 58 34.5% 11 9% - - - NULL USP9X 8239 genome.wustl.edu 37 X 41000333 41000333 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039590.2 +1 reviewed p.K295N 1.000 44 0% 15 40% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP9X 8239 genome.wustl.edu 37 X 41002634 41002634 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039590.2 +1 reviewed p.R418C 1.000 151 0% 47 34% 17 76.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP9X 8239 genome.wustl.edu 37 X 41075375 41075375 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039590.2 +1 reviewed p.Q1852P 1.000 132 0% 192 30.2% 97 53.6% benign(0) tolerated(0.23) neutral(0.042) HMMPfam_UCH,superfamily_Cysteine proteinases DDX3X 1654 genome.wustl.edu 37 X 41205843 41205843 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001356.3 +1 reviewed p.R528H 1.000 269 0% 274 33.9% 222 34.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases GPR34 2857 genome.wustl.edu 37 X 41555198 41555198 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001097579.1 +1 validated p.I104 0.994 122 0% 95 33.7% 3 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR34 2857 genome.wustl.edu 37 X 41555793 41555793 + Nonsense_Mutation SNP G G T rs5918228 byCluster TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001097579.1 +1 validated p.E303* 0.741 279 0% 152 32.2% 3 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CASK 8573 genome.wustl.edu 37 X 41712457 41712457 + Missense_Mutation SNP C C T rs137852816 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003688.3 -1 reviewed p.R28Q 1.000 129 0% 206 28.2% 16 93.7% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAOA 4128 genome.wustl.edu 37 X 43603383 43603383 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000240.2 +1 reviewed p.E468K 0.000 163 0% 95 29.5% 11 100% benign(0) tolerated(0.63) neutral(0.004) superfamily_FAD/NAD(P)-binding domain MAOB 4129 genome.wustl.edu 37 X 43698147 43698147 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000898.4 -1 reviewed p.V82 1.000 95 0% 42 19% 0 - - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain NDP 4693 genome.wustl.edu 37 X 43817872 43817872 + Missense_Mutation SNP G G C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000266.3 -1 reviewed p.A7G 1.000 166 0% 78 30.8% 2 100% benign(0.253) tolerated(0.16) neutral(0.085) NULL EFHC2 80258 genome.wustl.edu 37 X 44109508 44109508 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000333807 -1 known p.E264* 0.995 120 0% 58 32.8% 0 - - - - HMMSmart_SM00676,HMMPfam_DUF1126 FUNDC1 139341 genome.wustl.edu 37 X 44386488 44386488 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173794.3 -1 validated p.E129K 1.000 332 0% 231 32.9% 35 0% benign(0.004) tolerated(0.09) neutral(0.296) HMMPfam_FUN14 DUSP21 63904 genome.wustl.edu 37 X 44703878 44703878 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022076.3 +1 reviewed p.R167H 0.010 49 0% 36 36.1% 0 - benign(0.037) tolerated(0.43) neutral(0.015) NULL KDM6A 7403 genome.wustl.edu 37 X 44911010 44911010 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021140.2 +1 reviewed p.L237 1.000 72 0% 73 16.4% 7 71.4% - - - HMMSmart_TPR,superfamily_SSF48452 CXorf36 79742 genome.wustl.edu 37 X 45016981 45016981 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_176819.3 -1 validated p.N217K 0.039 68 0% 126 34.1% 1 0% possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL MIR222 407007 genome.wustl.edu 37 X 45606454 45606454 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384992 -1 known NULL 1.000 66 0% 37 45.9% 0 - - - - - ZNF674 641339 genome.wustl.edu 37 X 46359642 46359642 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039891.2 -1 validated p.R461I 0.989 189 0% 105 36.2% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF674 641339 genome.wustl.edu 37 X 46359810 46359810 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039891.2 -1 validated p.R405I 1.000 210 0% 93 29% 2 100% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF674 641339 genome.wustl.edu 37 X 46360377 46360377 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039891.2 -1 validated p.R216I 0.437 268 0% 152 30.3% 3 0% possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) superfamily_SSF57667 SLC9A7 84679 genome.wustl.edu 37 X 46495074 46495074 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032591.1 -1 reviewed p.V541 0.983 94 0% 53 28.3% 1 0% - - - NULL SLC9A7 84679 genome.wustl.edu 37 X 46502763 46502763 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032591.1 -1 reviewed p.Q507 1.000 62 0% 31 29% 6 100% - - - HMMPfam_Na_H_Exchanger RP2 6102 genome.wustl.edu 37 X 46712962 46712962 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006915.2 +1 reviewed p.R52C 1.000 81 0% 48 41.7% 11 81.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RP2 6102 genome.wustl.edu 37 X 46713115 46713115 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006915.2 +1 reviewed p.R103W 1.000 126 0% 65 29.2% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CARP,HMMPfam_TBCC RP2 6102 genome.wustl.edu 37 X 46713189 46713189 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006915.2 +1 reviewed p.V127 1.000 142 0% 75 22.7% 9 0% - - - HMMSmart_CARP,HMMPfam_TBCC RBM10 8241 genome.wustl.edu 37 X 47006895 47006895 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005676.3 +1 reviewed p.R5 1.000 99 0% 157 32.5% 49 0% - - - NULL UBA1 7317 genome.wustl.edu 37 X 47060332 47060332 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003334.3 +1 reviewed p.R174* 0.984 98 0% 141 27.7% 182 3.2% - - - HMMPfam_ThiF,superfamily_MoeB USP11 8237 genome.wustl.edu 37 X 47100702 47100702 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004651.3 +1 reviewed p.T334 0.000 73 1.4% 107 42.1% 89 0% - - - HMMPfam_UCH,superfamily_SSF54001 USP11 8237 genome.wustl.edu 37 X 47107095 47107095 + Silent SNP C C T rs182381425 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004651.3 +1 reviewed p.I917 0.985 89 0% 157 28.7% 112 73.2% - - - HMMPfam_UCH,superfamily_SSF54001 ZNF157 7712 genome.wustl.edu 37 X 47271933 47271933 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003446.3 +1 reviewed p.R154I 0.004 110 0% 99 36.4% 0 - possibly_damaging(0.893) tolerated(0.14) deleterious(0.601) superfamily_SSF57667 ZNF41 7592 genome.wustl.edu 37 X 47308502 47308502 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007130.2 -1 reviewed p.N223H 0.015 278 0% 182 24.7% 1 0% probably_damaging(0.983) tolerated(0.14) deleterious(0.678) NULL ARAF 369 genome.wustl.edu 37 X 47426444 47426444 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001654.3 +1 reviewed p.V263M 0.002 79 0% 108 25% 36 0% benign(0.026) tolerated(0.24) neutral(0.038) NULL ARAF 369 genome.wustl.edu 37 X 47430284 47430284 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001654.3 +1 reviewed p.F520C 1.000 113 0% 175 28% 62 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Kinase_like,HMMPfam_Pkinase SYN1 6853 genome.wustl.edu 37 X 47464451 47464451 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006950.3 -1 reviewed p.R234* 1.000 234 0.4% 151 35.8% 6 0% - - - HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like SYN1 6853 genome.wustl.edu 37 X 47479089 47479089 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006950.3 -1 reviewed p.F13L 1.000 11 0% 17 52.9% 2 50% possibly_damaging(0.93) tolerated(0.12) deleterious(0.637) HMMPfam_Synapsin_N ZNF182 7569 genome.wustl.edu 37 X 47836137 47836137 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006962.1 -1 reviewed p.R450I 1.000 136 0% 98 13.3% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF630 57232 genome.wustl.edu 37 X 47918632 47918632 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037735.2 -1 validated p.K400T 1.000 124 0% 64 34.4% 3 0% benign(0) deleterious(0.01) neutral(0.406) superfamily_SSF57667 ZNF630 57232 genome.wustl.edu 37 X 47919190 47919190 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037735.2 -1 validated p.K214T 0.000 113 0% 77 39% 2 0% benign(0.003) - - NULL ZNF630 57232 genome.wustl.edu 37 X 47920307 47920307 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001037735.2 -1 validated p.E11D 0.706 110 0% 82 34.1% 4 0% possibly_damaging(0.904) tolerated(0.07) deleterious(0.677) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SSX5 6758 genome.wustl.edu 37 X 48054751 48054751 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021015.3 -1 reviewed p.S15F 0.000 334 0% 183 25.1% 0 - benign(0.141) deleterious(0.04) neutral(0.361) NULL SSX4 6759 genome.wustl.edu 37 X 48244829 48244829 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005636.3 +1 reviewed p.K74Q 0.000 558 0% 289 16.6% 0 - possibly_damaging(0.568) tolerated(0.34) neutral(0.217) HMMSmart_KRAB,superfamily_Krueppel-associated_box SSX4 6759 genome.wustl.edu 37 X 48244871 48244871 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005636.3 +1 reviewed p.R88* 0.000 535 0% 286 14% 0 - - - - NULL SSX4B 548313 genome.wustl.edu 37 X 48269439 48269439 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001034832.2 -1 reviewed p.R88* 0.000 384 0% 247 23.9% 0 - - - - NULL SLC38A5 92745 genome.wustl.edu 37 X 48324664 48324664 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033518.2 -1 validated p.A122V 0.000 103 0% 127 31.5% 7 0% benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Aa_trans SLC38A5 92745 genome.wustl.edu 37 X 48325238 48325238 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033518.2 -1 validated p.A89 0.021 67 0% 96 36.5% 17 0% - - - HMMPfam_Aa_trans FTSJ1 24140 genome.wustl.edu 37 X 48337472 48337472 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012280.2 +1 reviewed p.A110V 0.996 111 0% 150 22.7% 55 85.4% benign(0.022) tolerated(0.2) neutral(0.050) HMMPfam_FtsJ,superfamily_S-adenosyl-L-methionine-dependent methyltransferases FTSJ1 24140 genome.wustl.edu 37 X 48340894 48340894 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012280.2 +1 reviewed p.D253 0.990 115 0% 155 38.1% 70 0% - - - NULL PORCN 64840 genome.wustl.edu 37 X 48369729 48369729 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_203475.1 +1 reviewed p.F61L 1.000 163 0% 281 35.9% 4 75% benign(0.003) tolerated(1) - NULL WAS 7454 genome.wustl.edu 37 X 48544514 48544514 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000377.2 +1 reviewed p.D184Y 1.000 125 0% 243 29.6% 12 0% possibly_damaging(0.812) tolerated(0.06) deleterious(0.628) NULL HDAC6 10013 genome.wustl.edu 37 X 48664870 48664870 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006044.2 +1 reviewed p.P178L 1.000 86 0% 104 31.7% 34 85.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hist_deacetyl,superfamily_SSF52768 TIMM17B 10245 genome.wustl.edu 37 X 48754133 48754133 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005834.3 -1 reviewed p.R12Q 1.000 59 0% 98 30.6% 81 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Tim17 PQBP1 10084 genome.wustl.edu 37 X 48755855 48755855 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001032381.1 +1 reviewed p.E21D 1.000 154 0% 300 24.7% 150 70.6% benign(0.009) tolerated(0.64) neutral(0.004) NULL SLC35A2 7355 genome.wustl.edu 37 X 48762568 48762568 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005660.1 -1 provisional p.V206 0.974 18 0% 28 39.3% 35 0% - - - HMMPfam_Nuc_sug_transp OTUD5 55593 genome.wustl.edu 37 X 48791820 48791820 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017602.3 -1 reviewed p.R331W 1.000 98 0% 67 35.8% 72 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OTU,superfamily_Cysteine proteinases KCND1 3750 genome.wustl.edu 37 X 48826150 48826150 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004979.4 -1 reviewed p.E177K 1.000 15 0% 17 47.1% 1 100% possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) NULL GRIPAP1 56850 genome.wustl.edu 37 X 48831642 48831642 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020137.3 -1 reviewed p.E786D 1.000 83 0% 117 12% 67 0% possibly_damaging(0.653) tolerated(0.31) neutral(0.257) NULL GRIPAP1 56850 genome.wustl.edu 37 X 48837844 48837844 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020137.3 -1 reviewed p.K605R 1.000 119 0% 115 25.2% 78 78.2% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL GRIPAP1 56850 genome.wustl.edu 37 X 48849958 48849958 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020137.3 -1 reviewed p.E113 1.000 85 0% 77 31.2% 16 0% - - - NULL TFE3 7030 genome.wustl.edu 37 X 48891050 48891050 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006521.4 -1 reviewed p.R356C 1.000 125 0% 209 26.3% 69 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic PRICKLE3 4007 genome.wustl.edu 37 X 49033462 49033462 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000453382 -1 known p.A361V 0.675 10 0% 13 46.2% 11 0% - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) SYP 6855 genome.wustl.edu 37 X 49054104 49054104 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000466635 -1 known p.L99 0.000 9 0.000 39 0.256 0 - - - - NULL CACNA1F 778 genome.wustl.edu 37 X 49070354 49070354 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005183.2 -1 reviewed p.F1250L 0.616 78 0% 80 30% 1 100% benign(0.429) deleterious(0.04) deleterious(0.488) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1F 778 genome.wustl.edu 37 X 49071984 49071984 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005183.2 -1 reviewed p.D1097N 1.000 97 0% 121 37.2% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels FOXP3 50943 genome.wustl.edu 37 X 49112257 49112257 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014009.3 -1 reviewed p.C218 0.997 65 0% 139 28.1% 6 0% - - - PatternScan_ZINC_FINGER_C2H2_1 PPP1R3F 89801 genome.wustl.edu 37 X 49157907 49157907 + Nonstop_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000471261 +1 known p.*157S 0.001 49 0% 59 23.7% 1 0% unknown(0) - - NULL PAGE4 9506 genome.wustl.edu 37 X 49595684 49595684 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007003.2 +1 reviewed p.E55K 0.001 123 0% 121 30.6% 0 - possibly_damaging(0.763) - - HMMPfam_GAGE CLCN5 1184 genome.wustl.edu 37 X 49837154 49837154 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127898.1 +1 reviewed p.K109T 1.000 434 0% 270 37% 0 - benign(0.08) tolerated(0.14) neutral(0.255) superfamily_Clc chloride channel CLCN5 1184 genome.wustl.edu 37 X 49854987 49854987 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127898.1 +1 reviewed p.M653I 1.000 148 0% 55 21.8% 4 0% benign(0) tolerated(0.15) neutral(0.241) NULL AKAP4 8852 genome.wustl.edu 37 X 49957441 49957441 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003886.2 -1 reviewed p.N641 0.003 152 0% 72 29.2% 0 - - - - HMMPfam_AKAP_110,HMMSmart_SM00807 AKAP4 8852 genome.wustl.edu 37 X 49958253 49958253 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003886.2 -1 reviewed p.L371 0.011 92 0% 38 26.3% 0 - - - - HMMPfam_AKAP_110,HMMSmart_SM00807 AKAP4 8852 genome.wustl.edu 37 X 49963397 49963397 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003886.2 -1 reviewed p.D12N 1.000 167 0% 135 36.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CCNB3 85417 genome.wustl.edu 37 X 50051794 50051794 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033031.2 +1 reviewed p.E209* 0.000 76 0% 36 30.6% 0 - - - - NULL CCNB3 85417 genome.wustl.edu 37 X 50052433 50052433 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033031.2 +1 reviewed p.E422* 0.002 62 0% 24 41.7% 0 - - - - NULL CCNB3 85417 genome.wustl.edu 37 X 50053433 50053433 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033031.2 +1 reviewed p.S755Y 0.000 43 0% 19 47.4% 0 - benign(0.08) deleterious(0) neutral(0.450) NULL CCNB3 85417 genome.wustl.edu 37 X 50089729 50089729 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033031.2 +1 reviewed p.E1245* 1.000 181 0% 92 35.9% 0 - - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like SHROOM4 57477 genome.wustl.edu 37 X 50351086 50351086 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020717.3 -1 reviewed p.S1019Y 1.000 84 0% 73 34.2% 1 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL GSPT2 23708 genome.wustl.edu 37 X 51487441 51487441 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018094.4 +1 reviewed p.R240I 1.000 134 0% 153 33.3% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_GTP_EFTU,superfamily_SSF52540 SSX7 280658 genome.wustl.edu 37 X 52681987 52681987 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173358.2 -1 reviewed p.K39 0.004 587 0% 280 30.4% 0 - - - - HMMSmart_KRAB,superfamily_Krueppel-associated_box XAGE5 170627 genome.wustl.edu 37 X 52842262 52842262 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130775.2 +1 reviewed p.E57D 0.001 250 0% 262 40.5% 0 - benign(0.019) tolerated(0.47) neutral(0.012) HMMPfam_GAGE GPR173 54328 genome.wustl.edu 37 X 53106712 53106712 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018969.5 +1 reviewed p.I303 0.177 59 0% 96 37.5% 9 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TSPYL2 64061 genome.wustl.edu 37 X 53112457 53112457 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022117.3 +1 reviewed p.I259 0.965 25 0% 60 33.3% 55 0% - - - HMMPfam_NAP KDM5C 8242 genome.wustl.edu 37 X 53226043 53226043 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004187.3 -1 reviewed p.R936C 1.000 24 0% 63 33.3% 192 53.6% probably_damaging(0.988) tolerated(0.05) deleterious(0.783) HMMPfam_PLU-1 IQSEC2 23096 genome.wustl.edu 37 X 53267393 53267393 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001111125.1 -1 validated p.R1071C 1.000 94 0% 148 31.1% 8 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_PH,superfamily_SSF50729 SMC1A 8243 genome.wustl.edu 37 X 53440245 53440245 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000428014 -1 known p.L189* 1.000 273 0% 295 30.2% 45 35.5% benign(0.183) tolerated(0.19) neutral(0.067) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases HUWE1 10075 genome.wustl.edu 37 X 53562406 53562406 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000427052 -1 known p.L3230I 1.000 281 0% 215 29.3% 189 0% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HUWE1 10075 genome.wustl.edu 37 X 53576064 53576064 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031407.4 -1 reviewed p.R3297S 1.000 86 0% 64 18.8% 83 0% possibly_damaging(0.816) tolerated(0.11) deleterious(0.580) NULL HUWE1 10075 genome.wustl.edu 37 X 53579836 53579836 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031407.4 -1 reviewed p.R2838K 1.000 88 0% 44 29.5% 33 0% benign(0.097) tolerated(0.91) neutral(0.007) NULL HUWE1 10075 genome.wustl.edu 37 X 53588830 53588830 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031407.4 -1 reviewed p.M2465T 1.000 169 0% 108 34.3% 101 0% benign(0.043) tolerated(0.12) neutral(0.263) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53591584 53591584 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031407.4 -1 reviewed p.S2327* 1.000 120 0% 124 26.6% 57 0% - - - superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53595719 53595719 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031407.4 -1 reviewed p.R2214W 1.000 212 0.5% 130 12.3% 47 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53596641 53596641 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000427052 -1 known p.E1187* 1.000 110 0% 111 28.8% 42 0% - - - superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53607797 53607797 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031407.4 -1 reviewed p.G1904* 1.000 36 0% 74 41.9% 27 0% - - - superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53610571 53610571 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031407.4 -1 reviewed p.L1823F 1.000 156 0% 197 29.4% 38 84.2% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53627240 53627240 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031407.4 -1 reviewed p.M1001V 1.000 169 0% 68 26.5% 27 0% benign(0) tolerated(0.35) neutral(0.021) NULL LOC100288560 100288560 genome.wustl.edu 37 X 53852479 53852479 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002344197.1 +1 model p.S33L 0.002 56 1.8% 33 24.2% 0 - - - - NULL PHF8 23133 genome.wustl.edu 37 X 54019239 54019239 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015107.2 -1 reviewed p.D554Y 1.000 113 0% 94 31.9% 40 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL WNK3 65267 genome.wustl.edu 37 X 54265457 54265457 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020922.4 -1 reviewed p.H1243N 1.000 96 0% 80 30% 0 - possibly_damaging(0.95) deleterious(0) deleterious(0.838) NULL WNK3 65267 genome.wustl.edu 37 X 54275489 54275489 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020922.4 -1 reviewed p.E1098* 1.000 255 0% 144 32.6% 0 - - - - NULL WNK3 65267 genome.wustl.edu 37 X 54275842 54275842 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020922.4 -1 reviewed p.S980Y 0.037 160 0% 66 33.3% 0 - benign(0.066) deleterious(0) neutral(0.449) NULL WNK3 65267 genome.wustl.edu 37 X 54360050 54360050 + Silent SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020922.4 -1 reviewed p.G19 1.000 72 0% 40 45% 0 - - - - NULL ITIH6 347365 genome.wustl.edu 37 X 54784151 54784151 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198510.2 -1 reviewed p.P786S 0.014 218 0% 277 37.5% 0 - benign(0.038) - - NULL ITIH6 347365 genome.wustl.edu 37 X 54785285 54785285 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198510.2 -1 reviewed p.S408G 0.631 51 0% 40 37.5% 0 - possibly_damaging(0.95) tolerated(0.09) deleterious(0.690) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 ITIH6 347365 genome.wustl.edu 37 X 54823422 54823422 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198510.2 -1 reviewed p.I70 1.000 81 0% 75 30.7% 0 - - - - HMMSmart_VIT,HMMPfam_VIT SNORA11 677799 genome.wustl.edu 37 X 54840831 54840831 + RNA SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_002953.1 +1 validated NULL 0.006 9 0.000 7 0.571 5 80% - - - - TRO 7216 genome.wustl.edu 37 X 54950197 54950197 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039705.1 +1 reviewed p.R411Q 0.997 47 0% 41 29.3% 0 - benign(0.155) deleterious(0.04) neutral(0.362) NULL TRO 7216 genome.wustl.edu 37 X 54954151 54954151 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039705.1 +1 reviewed p.F605L 1.000 80 0% 51 23.5% 3 0% probably_damaging(0.993) deleterious(0.04) deleterious(0.799) HMMPfam_MAGE TRO 7216 genome.wustl.edu 37 X 54955914 54955914 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039705.1 +1 reviewed p.F919 0.001 98 0% 72 43.1% 2 0% - - - NULL PFKFB1 5207 genome.wustl.edu 37 X 54982653 54982653 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002625.2 -1 reviewed p.E191* 1.000 158 0% 129 30.2% 0 - - - - HMMPfam_6PF2K,superfamily_SSF52540 PAGE5 90737 genome.wustl.edu 37 X 55247850 55247850 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_130467.3 +1 reviewed p.E32A 0.001 250 0% 200 29.5% 0 - benign(0.055) tolerated(0.45) neutral(0.015) HMMPfam_GAGE MAGEH1 28986 genome.wustl.edu 37 X 55479357 55479357 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014061.3 +1 reviewed p.R184C 0.009 92 0% 95 25.3% 34 26.4% benign(0.392) tolerated(0.14) neutral(0.375) NULL USP51 158880 genome.wustl.edu 37 X 55513394 55513394 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201286.3 -1 validated p.T660I 1.000 165 0% 260 38.8% 2 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_SSF54001 USP51 158880 genome.wustl.edu 37 X 55513478 55513478 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201286.3 -1 validated p.R632I 0.982 188 0% 289 35.6% 1 0% benign(0.022) tolerated(0.44) neutral(0.014) HMMPfam_UCH,superfamily_SSF54001 USP51 158880 genome.wustl.edu 37 X 55514676 55514676 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_201286.3 -1 validated p.S233P 1.000 125 0% 212 34.9% 0 - possibly_damaging(0.949) tolerated(0.08) deleterious(0.693) NULL FOXR2 139628 genome.wustl.edu 37 X 55650263 55650263 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198451.3 +1 validated p.S40Y 0.000 97 0% 34 29.4% 0 - benign(0.229) tolerated(0.25) neutral(0.060) NULL UBQLN2 29978 genome.wustl.edu 37 X 56590956 56590956 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_013444.3 +1 reviewed p.R217I 1.000 77 0% 122 29.5% 34 73.5% probably_damaging(0.954) deleterious(0) deleterious(0.842) HMMSmart_SM00727,superfamily_ARM repeat SPIN3 169981 genome.wustl.edu 37 X 57021268 57021268 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010862.2 -1 validated p.R38M 0.631 152 0% 217 14.7% 3 0% possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL SPIN2B 474343 genome.wustl.edu 37 X 57146746 57146746 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006681.1 -1 validated p.S106F 0.999 205 0% 354 22.6% 0 - possibly_damaging(0.837) deleterious(0.01) deleterious(0.725) NULL FAAH2 158584 genome.wustl.edu 37 X 57458375 57458375 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174912.3 +1 reviewed p.L341I 0.146 113 0% 64 28.1% 7 85.7% benign(0.11) tolerated(0.35) neutral(0.029) HMMPfam_Amidase,superfamily_Amidase signature (AS) enzymes FAAH2 158584 genome.wustl.edu 37 X 57515326 57515326 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_174912.3 +1 reviewed p.E520D 1.000 157 0% 108 24.1% 12 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Amidase signature (AS) enzymes ARHGEF9 23229 genome.wustl.edu 37 X 62898399 62898399 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015185.2 -1 reviewed p.C205* 0.998 110 0% 56 23.2% 10 0% - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ARHGEF9 23229 genome.wustl.edu 37 X 62944504 62944504 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015185.2 -1 reviewed p.D33N 1.000 109 0% 45 31.1% 8 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 FAM123B 139285 genome.wustl.edu 37 X 63411410 63411410 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152424.3 -1 reviewed p.R586Q 0.061 64 0% 37 24.3% 5 100% benign(0.006) tolerated(0.49) neutral(0.011) NULL FAM123B 139285 genome.wustl.edu 37 X 63412582 63412582 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152424.3 -1 reviewed p.K195N 0.030 76 0% 64 34.4% 1 0% benign(0) tolerated(0.13) neutral(0.253) HMMPfam_WTX ZC4H2 55906 genome.wustl.edu 37 X 64140096 64140096 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018684.2 -1 validated p.N88S 1.000 186 0% 157 31.2% 11 0% benign(0.115) tolerated(0.85) neutral(0.009) HMMPfam_zf-C4H2 ZC3H12B 340554 genome.wustl.edu 37 X 64719817 64719817 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010888.3 +1 reviewed p.F335L 1.000 119 0% 66 40.9% 4 0% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64722072 64722072 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001010888.3 +1 reviewed p.S487 1.000 160 0% 84 27.4% 1 0% - - - NULL LOC100288788 100288788 genome.wustl.edu 37 X 65176881 65176881 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343822.1 -1 model p.F53C 1.000 141 0% 80 22.5% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD HEPH 9843 genome.wustl.edu 37 X 65413379 65413379 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138737.3 +1 reviewed p.R426Q 0.997 60 0% 59 28.8% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Cupredoxins HEPH 9843 genome.wustl.edu 37 X 65476059 65476059 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138737.3 +1 reviewed p.F931C 1.000 247 0% 77 29.9% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Cupredoxins AR 367 genome.wustl.edu 37 X 66931477 66931477 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000044.2 +1 reviewed p.E707* 1.000 89 1.1% 35 31.4% 12 0% - - - HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain AR 367 genome.wustl.edu 37 X 66942713 66942713 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000044.2 +1 reviewed p.R832* 1.000 129 0% 56 30.4% 7 100% - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain OPHN1 4983 genome.wustl.edu 37 X 67432023 67432023 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002547.2 -1 reviewed p.S210Y 1.000 141 0% 164 27.4% 0 - benign(0) tolerated(0.22) neutral(0.042) NULL OPHN1 4983 genome.wustl.edu 37 X 67433725 67433725 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002547.2 -1 reviewed p.K192N 1.000 176 0% 201 34.3% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL YIPF6 286451 genome.wustl.edu 37 X 67731808 67731808 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173834.2 +1 provisional p.R59C 1.000 191 0% 174 32.2% 12 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL YIPF6 286451 genome.wustl.edu 37 X 67738635 67738635 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173834.2 +1 provisional p.L97I 1.000 787 0% 646 25.2% 11 90.9% probably_damaging(0.986) tolerated(0.11) deleterious(0.706) HMMPfam_Yip1 YIPF6 286451 genome.wustl.edu 37 X 67741326 67741326 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173834.2 +1 provisional p.L141I 1.000 387 0% 200 24% 19 0% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_Yip1 STARD8 9754 genome.wustl.edu 37 X 67941538 67941538 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142503.2 +1 reviewed p.A803 1.000 101 0% 133 37.6% 2 50% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP FAM155B 27112 genome.wustl.edu 37 X 68725597 68725597 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015686.2 +1 validated p.E158K 0.315 37 0% 50 22% 3 0% benign(0.15) tolerated(0.31) neutral(0.040) NULL FAM155B 27112 genome.wustl.edu 37 X 68749484 68749484 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015686.2 +1 validated p.A368 0.995 231 0% 251 30.3% 9 100% - - - NULL EDA 1896 genome.wustl.edu 37 X 69255291 69255291 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001399.4 +1 reviewed p.I336 0.542 99 0% 62 19.4% 6 33.3% - - - HMMPfam_TNF,superfamily_TNF-like OTUD6A 139562 genome.wustl.edu 37 X 69282633 69282633 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_207320.1 +1 provisional p.R87W 0.001 24 0% 50 34% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL IGBP1 3476 genome.wustl.edu 37 X 69354515 69354515 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001551.2 +1 reviewed p.N111H 0.970 131 0% 141 41.8% 46 0% benign(0.003) tolerated(0.14) neutral(0.249) HMMPfam_TAP42 AWAT1 158833 genome.wustl.edu 37 X 69459659 69459659 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013579.2 +1 reviewed p.R236M 0.736 260 0% 139 36.7% 0 - benign(0.13) tolerated(0.18) neutral(0.067) HMMPfam_DAGAT P2RY4 5030 genome.wustl.edu 37 X 69479135 69479135 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002565.3 -1 reviewed p.L114I 1.000 68 0% 97 42.3% 0 - probably_damaging(0.999) tolerated(0.27) deleterious(0.524) HMMPfam_7tm_1,superfamily_SSF81321 RAB41 347517 genome.wustl.edu 37 X 69504449 69504449 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001032726.2 +1 reviewed p.E209K 0.108 149 0% 246 32.1% 1 0% benign(0) tolerated(1) - HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF4A 24137 genome.wustl.edu 37 X 69595064 69595064 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012310.4 +1 reviewed p.R597C 1.000 101 0% 173 27.2% 23 95.6% probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL GDPD2 54857 genome.wustl.edu 37 X 69646998 69646998 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017711.3 +1 reviewed p.E238D 1.000 131 0.8% 128 35.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl SLC7A3 84889 genome.wustl.edu 37 X 70148306 70148306 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001048164.2 -1 reviewed p.S236I 0.946 88 0% 94 28.7% 0 - benign(0.009) tolerated(0.07) neutral(0.320) NULL IL2RG 3561 genome.wustl.edu 37 X 70331381 70331381 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000206.2 -1 reviewed p.K3N 0.591 239 0% 233 31.3% 83 0% unknown(0) deleterious(0) - NULL MED12 9968 genome.wustl.edu 37 X 70338656 70338656 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005120.2 +1 reviewed p.R18W 1.000 25 0% 24 45.8% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MED12 9968 genome.wustl.edu 37 X 70339568 70339568 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005120.2 +1 reviewed p.E79D 1.000 105 0% 134 40.3% 9 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL MED12 9968 genome.wustl.edu 37 X 70344018 70344018 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005120.2 +1 reviewed p.R585Q 0.993 88 0% 120 28.3% 16 87.5% benign(0.005) tolerated(0.61) neutral(0.004) NULL MED12 9968 genome.wustl.edu 37 X 70350002 70350002 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005120.2 +1 reviewed p.R1329* 1.000 67 0% 64 23.4% 31 0% - - - NULL MED12 9968 genome.wustl.edu 37 X 70356385 70356385 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005120.2 +1 reviewed p.E1760D 1.000 49 0% 61 24.6% 13 0% benign(0.001) tolerated(0.4) neutral(0.016) NULL NLGN3 54413 genome.wustl.edu 37 X 70389234 70389234 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018977.3 +1 reviewed p.V592I 1.000 97 0% 110 32.7% 2 0% benign(0.107) tolerated(0.16) neutral(0.068) HMMPfam_COesterase,superfamily_SSF53474 ZMYM3 9203 genome.wustl.edu 37 X 70470035 70470035 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005096.3 -1 reviewed p.K364N 1.000 92 0% 117 32.5% 27 0% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) HMMPfam_zf-FCS,HMMSmart_SM00746 ZMYM3 9203 genome.wustl.edu 37 X 70472663 70472663 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005096.3 -1 reviewed p.S148Y 0.914 66 0% 126 31.7% 15 0% possibly_damaging(0.918) deleterious(0) deleterious(0.813) NULL TAF1 6872 genome.wustl.edu 37 X 70598278 70598278 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004606.3 +1 reviewed p.P396H 0.526 250 0% 187 33.7% 7 0% benign(0.27) tolerated(0.37) neutral(0.048) NULL TAF1 6872 genome.wustl.edu 37 X 70602988 70602988 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004606.3 +1 reviewed p.L661I 1.000 250 0% 157 29.3% 6 0% possibly_damaging(0.866) tolerated(0.12) deleterious(0.596) NULL TAF1 6872 genome.wustl.edu 37 X 70608641 70608641 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004606.3 +1 reviewed p.E895* 1.000 252 0% 201 30.3% 19 0% - - - NULL TAF1 6872 genome.wustl.edu 37 X 70618498 70618498 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004606.3 +1 reviewed p.R1253G 1.000 214 0% 172 25% 20 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OGT 8473 genome.wustl.edu 37 X 70775921 70775921 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181672.2 +1 reviewed p.R348C 1.000 131 0% 110 21.8% 65 0% possibly_damaging(0.86) tolerated(0.06) deleterious(0.655) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like OGT 8473 genome.wustl.edu 37 X 70782979 70782979 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_181672.2 +1 reviewed e17-1 1.000 156 0% 99 35.4% 0 - - - - - ACRC 93953 genome.wustl.edu 37 X 70823684 70823684 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052957.4 +1 validated p.S186L 0.069 169 0% 121 24.8% 1 0% unknown(0) deleterious(0.01) - NULL NHSL2 340527 genome.wustl.edu 37 X 71359689 71359689 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001013627.2 +1 provisional p.F398C 0.137 113 0% 98 28.6% 4 25% benign(0.075) tolerated(0.1) neutral(0.291) NULL ERCC6L 54821 genome.wustl.edu 37 X 71426486 71426486 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017669.2 -1 validated p.E711K 0.998 175 0% 63 34.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PHKA1 5255 genome.wustl.edu 37 X 71802268 71802268 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002637.3 -1 reviewed p.D1160Y 1.000 89 0% 50 38% 16 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_PHK_AB PHKA1 5255 genome.wustl.edu 37 X 71802425 71802425 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002637.3 -1 reviewed p.F1107L 1.000 81 0% 50 22% 14 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PHK_AB PHKA1 5255 genome.wustl.edu 37 X 71823031 71823031 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002637.3 -1 reviewed p.S952L 0.997 170 0.6% 92 12% 21 0% benign(0.419) tolerated(0.09) neutral(0.432) HMMPfam_PHK_AB PHKA1 5255 genome.wustl.edu 37 X 71886005 71886005 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002637.3 -1 reviewed p.L287R 1.000 96 0% 39 33.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases CDX4 1046 genome.wustl.edu 37 X 72674387 72674387 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005193.1 +1 provisional p.P274H 0.952 124 0% 129 31.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CHIC1 53344 genome.wustl.edu 37 X 72900819 72900819 + Nonsense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001039840.2 +1 validated p.Y218* 1.000 207 0% 133 42.1% 2 0% - - - NULL SLC16A2 6567 genome.wustl.edu 37 X 73744203 73744203 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006517.3 +1 reviewed p.S269 1.000 122 0% 110 40.9% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC16A2 6567 genome.wustl.edu 37 X 73744452 73744452 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006517.3 +1 reviewed p.L352 1.000 134 0% 106 34% 16 0% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter KIAA2022 340533 genome.wustl.edu 37 X 73962112 73962112 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008537.2 -1 validated p.K760N 1.000 104 0% 44 15.9% 0 - possibly_damaging(0.671) deleterious(0) deleterious(0.682) NULL KIAA2022 340533 genome.wustl.edu 37 X 73963057 73963057 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008537.2 -1 validated p.F445L 1.000 168 0% 116 27.6% 0 - benign(0.135) deleterious(0.03) neutral(0.376) NULL KIAA2022 340533 genome.wustl.edu 37 X 73963300 73963300 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001008537.2 -1 validated p.F364L 1.000 154 0% 57 17.5% 0 - benign(0.135) tolerated(0.06) neutral(0.334) NULL ABCB7 22 genome.wustl.edu 37 X 74273249 74273249 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004299.3 -1 reviewed p.E740* 1.000 306 0% 159 25.2% 13 0% - - - NULL UPRT 139596 genome.wustl.edu 37 X 74494213 74494213 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145052.3 +1 reviewed p.N42D 0.002 53 0% 46 17.4% 13 38.4% benign(0.076) tolerated(0.07) neutral(0.325) NULL ZDHHC15 158866 genome.wustl.edu 37 X 74644552 74644552 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144969.2 -1 reviewed p.F224C 1.000 158 0% 109 20.2% 0 - unknown(0) tolerated(0.4) - NULL MAGEE2 139599 genome.wustl.edu 37 X 75003441 75003441 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138703.4 -1 validated p.E482 0.676 102 0% 68 26.5% 0 - - - - NULL MAGEE2 139599 genome.wustl.edu 37 X 75003857 75003857 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138703.4 -1 validated p.E344* 0.983 85 0% 51 11.8% 0 - - - - HMMPfam_MAGE MAGEE2 139599 genome.wustl.edu 37 X 75004607 75004607 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138703.4 -1 validated p.A94T 0.614 37 0% 22 45.5% 0 - probably_damaging(0.98) tolerated(0.1) deleterious(0.710) NULL MAGEE1 57692 genome.wustl.edu 37 X 75649108 75649108 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020932.2 +1 reviewed p.A262D 0.001 20 0% 21 38.1% 3 100% benign(0.083) tolerated(0.06) neutral(0.329) NULL MAGEE1 57692 genome.wustl.edu 37 X 75649815 75649815 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020932.2 +1 reviewed p.L498 0.241 61 0% 133 21.8% 6 83.3% - - - HMMPfam_MAGE ATRX 546 genome.wustl.edu 37 X 76888805 76888805 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000489.3 -1 reviewed p.D1675G 1.000 217 0% 252 30.2% 33 0% probably_damaging(0.983) tolerated(0.13) deleterious(0.681) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76920172 76920172 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000489.3 -1 reviewed p.R1302I 0.619 547 0% 280 31.1% 7 0% probably_damaging(0.983) tolerated(0.16) deleterious(0.488) NULL ATRX 546 genome.wustl.edu 37 X 76938307 76938307 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000489.3 -1 reviewed p.S814Y 1.000 183 0% 95 28.4% 5 60% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL ATP7A 538 genome.wustl.edu 37 X 77245008 77245008 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000052.4 +1 reviewed p.S297N 0.998 155 0% 94 27.7% 1 0% benign(0.141) tolerated(0.24) neutral(0.050) HMMPfam_HMA,superfamily_HMA heavy metal-associated domain,PatternScan_HMA_1 ATP7A 538 genome.wustl.edu 37 X 77254093 77254093 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000052.4 +1 reviewed p.K485 1.000 148 0% 99 34.3% 0 - - - - superfamily_HMA heavy metal-associated domain ATP7A 538 genome.wustl.edu 37 X 77298248 77298248 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000052.4 +1 reviewed p.D1323N 1.000 175 0% 97 29.9% 8 87.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M LOC100289421 100289421 genome.wustl.edu 37 X 77359778 77359778 + Missense_Mutation SNP C C T rs192936390 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343831.1 -1 model p.R54Q 0.000 30 0% 62 41.9% 300 0% - - - NULL TAF9B 51616 genome.wustl.edu 37 X 77393484 77393484 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015975.4 -1 reviewed p.S82Y 1.000 165 0% 256 33.2% 20 0% possibly_damaging(0.598) deleterious(0) deleterious(0.651) HMMPfam_TFIID-31kDa TAF9B 51616 genome.wustl.edu 37 X 77394364 77394364 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_015975.4 -1 reviewed p.N37H 1.000 172 0% 325 32.3% 7 0% benign(0.045) deleterious(0) neutral(0.447) HMMPfam_TFIID-31kDa,superfamily_Histone-fold CYSLTR1 10800 genome.wustl.edu 37 X 77528306 77528306 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006639.2 -1 reviewed p.S313Y 1.000 128 0% 73 34.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CYSLTR1 10800 genome.wustl.edu 37 X 77528383 77528383 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006639.2 -1 reviewed p.N287 1.000 120 0% 70 12.9% 2 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CYSLTR1 10800 genome.wustl.edu 37 X 77528769 77528769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006639.2 -1 reviewed p.L159I 1.000 131 0% 94 24.5% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR174 84636 genome.wustl.edu 37 X 78426662 78426662 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032553.1 +1 validated p.R53Q 1.000 195 0% 91 35.2% 1 0% possibly_damaging(0.927) deleterious(0.04) deleterious(0.724) HMMPfam_7tm_1,superfamily_SSF81321 ITM2A 9452 genome.wustl.edu 37 X 78616853 78616853 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004867.4 -1 reviewed p.R226C 1.000 86 0% 69 33.3% 30 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BRICHOS TBX22 50945 genome.wustl.edu 37 X 79286448 79286448 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001109878.1 +1 reviewed p.S467 0.989 226 0% 130 10% 0 - - - - NULL BRWD3 254065 genome.wustl.edu 37 X 79947636 79947636 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153252.4 -1 reviewed p.E1093* 1.000 180 0% 97 24.7% 5 0% - - - NULL BRWD3 254065 genome.wustl.edu 37 X 79973250 79973250 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153252.4 -1 reviewed p.S685R 1.000 153 0% 175 37.1% 6 100% probably_damaging(0.983) tolerated(0.48) neutral(0.440) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase BRWD3 254065 genome.wustl.edu 37 X 79979262 79979262 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153252.4 -1 reviewed p.S545 1.000 164 0% 93 21.5% 3 0% - - - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase BRWD3 254065 genome.wustl.edu 37 X 79985481 79985481 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153252.4 -1 reviewed p.R389I 1.000 295 0% 207 23.7% 2 0% probably_damaging(0.998) tolerated(0.23) deleterious(0.516) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 BRWD3 254065 genome.wustl.edu 37 X 79999589 79999589 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153252.4 -1 reviewed p.R252Q 1.000 111 0% 64 28.1% 4 0% probably_damaging(0.959) tolerated(0.65) neutral(0.406) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase HMGN5 79366 genome.wustl.edu 37 X 80370241 80370241 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_030763.2 -1 reviewed p.E252D 0.000 774 0% 594 28.3% 24 100% unknown(0) tolerated(0.53) - NULL SH3BGRL 6451 genome.wustl.edu 37 X 80532569 80532569 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003022.2 +1 validated p.E44D 0.991 126 0% 53 37.7% 113 0% benign(0) tolerated(0.7) neutral(0.002) HMMPfam_SH3BGR,superfamily_Thioredoxin-like CYLC1 1538 genome.wustl.edu 37 X 83128849 83128849 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021118.1 +1 provisional p.K378T 0.007 48 0% 63 33.3% 0 - unknown(0) tolerated(0.33) - NULL CYLC1 1538 genome.wustl.edu 37 X 83129560 83129560 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021118.1 +1 provisional p.S615F 0.023 85 0% 49 32.7% 0 - unknown(0) tolerated(0.25) - NULL RPS6KA6 27330 genome.wustl.edu 37 X 83361979 83361979 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014496.4 -1 reviewed p.S394Y 0.523 139 0% 82 32.9% 0 - benign(0.257) deleterious(0.01) neutral(0.432) HMMPfam_Pkinase_C RPS6KA6 27330 genome.wustl.edu 37 X 83372110 83372110 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014496.4 -1 reviewed p.L303I 1.000 89 0% 44 20.5% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RPS6KA6 27330 genome.wustl.edu 37 X 83372419 83372419 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014496.4 -1 reviewed p.R278K 1.000 214 0% 127 18.1% 0 - benign(0.008) deleterious(0.03) neutral(0.364) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RPS6KA6 27330 genome.wustl.edu 37 X 83375033 83375033 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014496.4 -1 reviewed p.F217V 1.000 140 0% 81 28.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HDX 139324 genome.wustl.edu 37 X 83576979 83576979 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144657.4 -1 validated p.F664Y 1.000 114 0% 47 40.4% 1 0% benign(0.132) tolerated(0.75) neutral(0.012) NULL HDX 139324 genome.wustl.edu 37 X 83588844 83588844 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144657.4 -1 validated p.E583* 1.000 223 0% 52 30.8% 0 - - - - NULL HDX 139324 genome.wustl.edu 37 X 83616532 83616532 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144657.4 -1 validated p.C465Y 1.000 132 0% 98 26.5% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like HDX 139324 genome.wustl.edu 37 X 83723827 83723827 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144657.4 -1 validated p.D302Y 1.000 153 0% 120 24.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL APOOL 139322 genome.wustl.edu 37 X 84329385 84329385 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198450.4 +1 validated p.E236* 0.017 163 0% 88 22.7% 9 0% - - - NULL ZNF711 7552 genome.wustl.edu 37 X 84510494 84510494 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021998.4 +1 reviewed p.D103E 0.996 218 0% 334 32.9% 0 - benign(0.028) tolerated(0.28) neutral(0.033) HMMPfam_Zfx_Zfy_act ZNF711 7552 genome.wustl.edu 37 X 84510624 84510624 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021998.4 +1 reviewed p.D147Y 1.000 135 0% 193 28% 0 - possibly_damaging(0.852) deleterious(0) deleterious(0.772) HMMPfam_Zfx_Zfy_act ZNF711 7552 genome.wustl.edu 37 X 84525739 84525739 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021998.4 +1 reviewed p.F397L 1.000 52 0% 13 53.8% 0 - possibly_damaging(0.882) tolerated(0.05) deleterious(0.690) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF711 7552 genome.wustl.edu 37 X 84526237 84526237 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_021998.4 +1 reviewed p.K563N 1.000 84 0% 44 25% 0 - probably_damaging(0.976) deleterious(0.02) deleterious(0.801) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers POF1B 79983 genome.wustl.edu 37 X 84561279 84561279 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024921.3 -1 reviewed p.R409* 0.564 210 0% 149 32.9% 0 - - - - NULL POF1B 79983 genome.wustl.edu 37 X 84606419 84606419 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024921.3 -1 reviewed p.F159L 1.000 332 0% 88 15.9% 0 - possibly_damaging(0.775) tolerated(0.34) neutral(0.311) NULL POF1B 79983 genome.wustl.edu 37 X 84614615 84614615 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024921.3 -1 reviewed p.V126 1.000 296 0% 97 29.9% 1 0% - - - NULL POF1B 79983 genome.wustl.edu 37 X 84622761 84622761 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024921.3 -1 reviewed p.S98Y 1.000 223 0% 129 27.1% 0 - possibly_damaging(0.92) tolerated(0.06) deleterious(0.694) NULL CHM 1121 genome.wustl.edu 37 X 85218739 85218739 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000390.2 -1 reviewed p.K211N 1.000 150 0% 131 31.3% 1 0% benign(0.021) tolerated(0.32) neutral(0.025) HMMPfam_GDI,superfamily_SSF51905 DACH2 117154 genome.wustl.edu 37 X 85969668 85969668 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053281.3 +1 reviewed p.A350D 1.000 98 0% 33 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DACH2 117154 genome.wustl.edu 37 X 85994794 85994794 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053281.3 +1 reviewed p.E383D 0.048 182 0% 48 41.7% 1 0% benign(0.002) tolerated(0.75) neutral(0.002) NULL DACH2 117154 genome.wustl.edu 37 X 85994850 85994850 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_053281.3 +1 reviewed p.S402Y 1.000 143 0% 45 11.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLHL4 56062 genome.wustl.edu 37 X 86773265 86773265 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_057162.2 +1 reviewed p.R123 0.000 37 0% 21 33.3% 0 - - - - NULL KLHL4 56062 genome.wustl.edu 37 X 86873030 86873030 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_057162.2 +1 reviewed p.L275F 1.000 140 0% 54 9.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB TGIF2LX 90316 genome.wustl.edu 37 X 89177301 89177301 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138960.3 +1 reviewed p.R73W 0.999 132 0% 184 28.8% 0 - possibly_damaging(0.823) deleterious(0) deleterious(0.756) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like PABPC5 140886 genome.wustl.edu 37 X 90691497 90691497 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_080832.2 +1 reviewed p.K307N 1.000 67 0% 105 32.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD PCDH11X 27328 genome.wustl.edu 37 X 91090730 91090730 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032968.3 +1 reviewed p.R76Q 0.575 314 0% 168 10.1% 1 100% probably_damaging(0.992) tolerated(0.1) deleterious(0.734) HMMPfam_Cadherin_2 PCDH11X 27328 genome.wustl.edu 37 X 91131801 91131801 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032968.3 +1 reviewed p.D188N 0.996 135 0% 104 69.2% 1 100% probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH11X 27328 genome.wustl.edu 37 X 91133406 91133406 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032968.3 +1 reviewed p.L723M 0.971 145 0% 115 23.5% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH11X 27328 genome.wustl.edu 37 X 91134112 91134112 + Missense_Mutation SNP C C T rs2563388 bySubmitter TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032968.3 +1 reviewed p.S958L 1.000 235 0% 208 22.6% 0 - benign(0.001) tolerated(0.15) neutral(0.241) HMMPfam_Protocadherin DIAPH2 1730 genome.wustl.edu 37 X 96013201 96013201 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006729.4 +1 reviewed p.D131Y 1.000 122 0% 90 23.3% 0 - unknown(0) deleterious(0) - HMMPfam_Drf_GBD DIAPH2 1730 genome.wustl.edu 37 X 96136632 96136632 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006729.4 +1 reviewed p.H168N 1.000 142 0% 64 20.3% 0 - unknown(0) tolerated(0.11) - HMMPfam_Drf_GBD DIAPH2 1730 genome.wustl.edu 37 X 96213131 96213131 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006729.4 +1 reviewed p.R640I 1.000 113 0% 62 29% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) PCDH19 57526 genome.wustl.edu 37 X 99661505 99661505 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105243.1 -1 reviewed p.I697 1.000 132 0% 234 29.1% 11 0% - - - NULL PCDH19 57526 genome.wustl.edu 37 X 99662413 99662413 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001105243.1 -1 reviewed p.R395* 0.999 106 0% 153 29.4% 15 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SYTL4 94121 genome.wustl.edu 37 X 99943340 99943340 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000372981 -1 known p.S338Y 0.116 210 0% 140 32.9% 0 - unknown(0) tolerated(0.06) - NULL SYTL4 94121 genome.wustl.edu 37 X 99956660 99956660 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001129896.2 -1 reviewed p.K40N 1.000 111 0% 60 35% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger CSTF2 1478 genome.wustl.edu 37 X 100088237 100088237 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001325.2 +1 reviewed p.D426Y 1.000 139 0% 126 18.3% 35 0% possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL NOX1 27035 genome.wustl.edu 37 X 100098945 100098945 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007052.4 -1 reviewed p.F564C 1.000 217 0% 141 17% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL ARL13A 392509 genome.wustl.edu 37 X 100228734 100228734 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012990.3 +1 validated p.R19Q 0.413 176 0% 382 18.8% 0 - benign(0.023) tolerated(0.67) neutral(0.004) superfamily_SSF52540 ARL13A 392509 genome.wustl.edu 37 X 100245653 100245653 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000372953 +1 known p.S285F 0.000 175 0% 168 19.6% 0 - unknown(0) - - NULL CENPI 2491 genome.wustl.edu 37 X 100356137 100356137 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006733.2 +1 reviewed p.T26 0.001 138 0.7% 197 33% 12 0% - - - HMMPfam_Mis6 CENPI 2491 genome.wustl.edu 37 X 100402774 100402774 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006733.2 +1 reviewed p.A617T 1.000 204 0.5% 136 35.3% 8 0% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL TAF7L 54457 genome.wustl.edu 37 X 100542468 100542468 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024885.3 -1 reviewed p.L108M 0.961 135 0% 190 37.4% 0 - benign(0.113) tolerated(0.12) neutral(0.270) HMMPfam_TAFII55_N BTK 695 genome.wustl.edu 37 X 100615678 100615678 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000061.2 -1 reviewed p.K218N 0.987 212 0% 161 39.8% 2 0% unknown(0) tolerated(0.42) - HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 HNRNPH2 3188 genome.wustl.edu 37 X 100667486 100667486 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001032393.1 +1 reviewed p.K170N 1.000 88 0% 116 20.7% 105 0% possibly_damaging(0.659) tolerated(0.4) neutral(0.248) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HNRNPH2 3188 genome.wustl.edu 37 X 100667550 100667550 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001032393.1 +1 reviewed p.R192* 1.000 91 0% 113 28.3% 93 0% - - - superfamily_RNA-binding domain RBD ARMCX1 51309 genome.wustl.edu 37 X 100808590 100808590 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016608.1 +1 reviewed p.A226D 0.996 84 0% 105 29.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX6 54470 genome.wustl.edu 37 X 100871212 100871212 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009584.1 -1 validated p.I133 0.451 126 0% 104 26.9% 19 0% - - - HMMPfam_DUF634 ARMCX3 51566 genome.wustl.edu 37 X 100880989 100880989 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016607.3 +1 reviewed p.F340 1.000 38 0% 28 17.9% 14 78.5% - - - HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX2 9823 genome.wustl.edu 37 X 100910807 100910807 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014782.5 -1 reviewed p.E590* 1.000 74 0% 94 33% 1 0% - - - HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX2 9823 genome.wustl.edu 37 X 100911098 100911098 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014782.5 -1 reviewed p.L493I 0.998 149 0% 162 34.6% 1 0% probably_damaging(0.964) tolerated(0.14) deleterious(0.656) HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX2 9823 genome.wustl.edu 37 X 100912562 100912562 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014782.5 -1 reviewed p.R5W 0.995 61 0% 86 33.7% 1 0% unknown(0) tolerated(0.07) - NULL NXF5 55998 genome.wustl.edu 37 X 101096239 101096239 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032946.2 -1 reviewed p.D129N 1.000 506 0% 243 16% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) superfamily_L domain-like ZMAT1 84460 genome.wustl.edu 37 X 101138933 101138933 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001011657.2 -1 reviewed p.R489I 0.472 265 0% 144 38.2% 4 0% possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) NULL ZMAT1 84460 genome.wustl.edu 37 X 101139114 101139114 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001011657.2 -1 reviewed p.E429* 0.624 302 0% 134 12.7% 4 0% - - - NULL ZMAT1 84460 genome.wustl.edu 37 X 101139129 101139129 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001011657.2 -1 reviewed p.T424A 0.264 310 0% 146 33.6% 4 100% probably_damaging(0.979) deleterious(0.03) deleterious(0.786) NULL NXF2B 728343 genome.wustl.edu 37 X 101624640 101624640 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099686.1 -1 provisional p.R84Q 0.000 456 0% 269 12.3% 0 - benign(0.027) tolerated(0.41) neutral(0.017) NULL ARMCX5 64860 genome.wustl.edu 37 X 101858402 101858402 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022838.3 +1 validated p.S445R 0.164 91 0% 25 32% 15 80% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DUF634,superfamily_ARM repeat GPRASP1 9737 genome.wustl.edu 37 X 101909490 101909490 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099410.1 +1 reviewed p.N217D 0.002 79 0% 90 30% 2 0% benign(0.002) tolerated(0.41) neutral(0.015) NULL GPRASP1 9737 genome.wustl.edu 37 X 101911869 101911869 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099410.1 +1 reviewed p.D1010N 0.997 166 0% 166 39.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPRASP2 114928 genome.wustl.edu 37 X 101970695 101970695 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004051.2 +1 reviewed p.T300A 0.959 81 0% 137 37.2% 1 0% benign(0.001) tolerated(0.58) neutral(0.005) NULL GPRASP2 114928 genome.wustl.edu 37 X 101970939 101970939 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004051.2 +1 reviewed p.F381S 0.478 101 0% 131 13.7% 3 0% benign(0.014) tolerated(0.4) neutral(0.017) NULL GPRASP2 114928 genome.wustl.edu 37 X 101971581 101971581 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001004051.2 +1 reviewed p.S595Y 0.663 180 0% 205 33.7% 1 0% benign(0.123) deleterious(0.02) neutral(0.393) HMMPfam_DUF634 BHLHB9 80823 genome.wustl.edu 37 X 102004349 102004349 + Silent SNP T T A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142524.1 +1 validated p.I142 0.000 115 0% 161 22.4% 1 0% - - - NULL NXF3 56000 genome.wustl.edu 37 X 102339380 102339380 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022052.1 -1 reviewed p.R81C 0.000 362 0% 324 34.3% 0 - probably_damaging(0.961) deleterious(0.02) deleterious(0.787) NULL NXF3 56000 genome.wustl.edu 37 X 102339782 102339782 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022052.1 -1 reviewed p.A20T 0.002 217 0% 168 26.2% 0 - possibly_damaging(0.895) tolerated(0.07) deleterious(0.672) NULL TCEAL5 340543 genome.wustl.edu 37 X 102529445 102529445 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012979.2 -1 validated p.R16I 0.126 355 0% 377 25.7% 1 0% possibly_damaging(0.704) deleterious(0.02) deleterious(0.637) HMMPfam_TFA TCEAL7 56849 genome.wustl.edu 37 X 102586470 102586470 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152278.2 +1 provisional p.E47* 0.960 106 0% 115 24.3% 0 - - - - HMMPfam_TFA TCEAL4 79921 genome.wustl.edu 37 X 102841694 102841694 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006935.1 +1 reviewed p.E31* 0.015 241 0% 363 28.7% 111 0% - - - HMMPfam_TFA TCEAL4 79921 genome.wustl.edu 37 X 102842075 102842075 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006935.1 +1 reviewed p.E158* 0.996 155 0% 200 27% 109 0% - - - HMMPfam_TFA TCEAL4 79921 genome.wustl.edu 37 X 102842154 102842154 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001006935.1 +1 reviewed p.R184I 0.994 127 0% 172 27.3% 93 86% possibly_damaging(0.924) deleterious(0) deleterious(0.818) HMMPfam_TFA MCART6 401612 genome.wustl.edu 37 X 103349917 103349917 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001012755.3 -1 validated p.P8 0.032 72 0% 69 31.9% 1 0% - - - NULL ZCCHC18 644353 genome.wustl.edu 37 X 103358885 103358885 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143978.1 +1 provisional p.S28F 0.057 126 0% 197 30.5% 0 - - - - NULL ESX1 80712 genome.wustl.edu 37 X 103498876 103498876 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153448.3 -1 reviewed p.E155D 0.051 39 0% 42 26.2% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like NRK 203447 genome.wustl.edu 37 X 105153104 105153104 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198465.2 +1 validated p.L491M 0.000 53 0% 24 20.8% 0 - possibly_damaging(0.688) tolerated(0.2) neutral(0.295) NULL NRK 203447 genome.wustl.edu 37 X 105168781 105168781 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198465.2 +1 validated p.A1024T 0.000 143 0% 114 27.2% 0 - benign(0.01) deleterious(0) neutral(0.445) NULL NRK 203447 genome.wustl.edu 37 X 105179275 105179275 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_198465.2 +1 validated p.E1205* 1.000 419 0% 161 30.4% 0 - - - - HMMSmart_SM00036 MUM1L1 139221 genome.wustl.edu 37 X 105449724 105449724 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000337685 +1 known p.R100K 0.451 83 0% 46 34.8% 1 0% benign(0.029) tolerated(0.62) neutral(0.005) NULL MUM1L1 139221 genome.wustl.edu 37 X 105450067 105450067 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000337685 +1 known p.I214 0.000 125 0% 100 33% 0 - - - - NULL MUM1L1 139221 genome.wustl.edu 37 X 105450888 105450888 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000337685 +1 known p.S488Y 0.945 82 0% 58 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF63748 LOC644504 644504 genome.wustl.edu 37 X 105570813 105570813 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_001128075.2 +1 model p.R64Q 1.000 75 0% 54 24.1% 0 - - - - HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases CXorf57 55086 genome.wustl.edu 37 X 105855563 105855563 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018015.5 +1 validated p.D85N 0.013 60 0% 112 22.3% 1 100% benign(0.003) tolerated(0.72) neutral(0.002) NULL TBC1D8B 54885 genome.wustl.edu 37 X 106083350 106083350 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017752.2 +1 validated p.R476* 1.000 166 0% 101 28.7% 0 - - - - superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D8B 54885 genome.wustl.edu 37 X 106096754 106096754 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017752.2 +1 validated p.F709L 1.000 161 0% 90 36.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Ypt/Rab-GAP domain of gyp1p MORC4 79710 genome.wustl.edu 37 X 106198282 106198282 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024657.4 -1 reviewed p.E516* 0.053 250 0% 113 23% 3 66.6% - - - NULL MORC4 79710 genome.wustl.edu 37 X 106200226 106200226 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024657.4 -1 reviewed p.S465Y 1.000 154 0% 74 27% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-CW RBM41 55285 genome.wustl.edu 37 X 106331767 106331767 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018301.3 -1 validated p.E276* 1.000 168 0% 113 35.4% 1 100% - - - NULL FRMPD3 84443 genome.wustl.edu 37 X 106844359 106844359 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_042978.6 +1 model p.V1063 0.450 4 0.000 6 0.833 1 0% - - - NULL MID2 11043 genome.wustl.edu 37 X 107160757 107160757 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012216.3 +1 reviewed p.R408Q 1.000 57 0% 30 33.3% 3 0% benign(0.014) tolerated(0.2) neutral(0.050) HMMSmart_SM00060,superfamily_Fibronectin type III TEX13B 56156 genome.wustl.edu 37 X 107225271 107225271 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031273.2 -1 reviewed p.T29 0.000 129 0% 86 29.1% 0 - - - - NULL TEX13B 56156 genome.wustl.edu 37 X 107225309 107225309 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031273.2 -1 reviewed p.V17L 0.007 120 0% 72 15.3% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL VSIG1 340547 genome.wustl.edu 37 X 107320311 107320311 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182607.4 +1 reviewed p.S288 0.000 79 0% 29 41.4% 1 0% - - - NULL ATG4A 115201 genome.wustl.edu 37 X 107393387 107393387 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_052936.2 +1 reviewed p.E274K 1.000 90 0% 47 40.4% 28 0% benign(0.37) tolerated(0.13) neutral(0.370) HMMPfam_Peptidase_C54 COL4A6 1288 genome.wustl.edu 37 X 107402884 107402884 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001847.2 -1 reviewed p.K1541N 0.996 99 0% 87 29.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like COL4A6 1288 genome.wustl.edu 37 X 107431785 107431785 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001847.2 -1 reviewed p.R518* 1.000 62 0% 14 28.6% 0 - - - - HMMPfam_Collagen COL4A6 1288 genome.wustl.edu 37 X 107437766 107437766 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001847.2 -1 reviewed p.E335* 1.000 336 0% 154 30.5% 0 - - - - HMMPfam_Collagen COL4A6 1288 genome.wustl.edu 37 X 107447757 107447758 + In_Frame_Ins INS - - TCT novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000394872 -1 known p.218in_frame_insR 0.013:0.016 - - - - - - - - - NULL COL4A5 1287 genome.wustl.edu 37 X 107838787 107838787 + Missense_Mutation SNP G G A rs104886117 TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_033380.1 +1 reviewed p.G491E 1.000 111 0% 32 18.8% 1 0% unknown(0) deleterious(0.01) - HMMPfam_Collagen IRS4 8471 genome.wustl.edu 37 X 107977066 107977066 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003604.2 -1 reviewed p.L837M 0.801 135 0% 255 27.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IRS4 8471 genome.wustl.edu 37 X 107978764 107978764 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003604.2 -1 reviewed p.E271K 1.000 41 0% 86 29.1% 0 - unknown(0) deleterious(0.02) - HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 IRS4 8471 genome.wustl.edu 37 X 107979044 107979044 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003604.2 -1 reviewed p.F177 0.988 22 0% 66 34.8% 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 GUCY2F 2986 genome.wustl.edu 37 X 108708416 108708416 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001522.2 -1 reviewed p.E329D 0.034 167 0% 101 23.8% 0 - benign(0.046) tolerated(0.55) neutral(0.009) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I NXT2 55916 genome.wustl.edu 37 X 108785765 108785765 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018698.3 +1 provisional p.L148I 1.000 88 0% 116 28.4% 9 88.8% possibly_damaging(0.601) tolerated(0.34) neutral(0.231) HMMPfam_NTF2,superfamily_SSF54427 ACSL4 2182 genome.wustl.edu 37 X 108924605 108924605 + Splice_Site SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_022977.2 -1 reviewed e3-1 1.000 140 0% 104 31.7% 0 - - - - - RGAG1 57529 genome.wustl.edu 37 X 109694752 109694752 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020769.2 +1 validated p.D303Y 0.397 176 0% 186 32.8% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL RGAG1 57529 genome.wustl.edu 37 X 109696359 109696359 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020769.2 +1 validated p.K838N 0.004 65 0% 72 31.9% 1 100% possibly_damaging(0.836) tolerated(0.06) deleterious(0.642) NULL CHRDL1 91851 genome.wustl.edu 37 X 109924859 109924859 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001143981.1 -1 reviewed p.S336I 0.387 140 0% 66 10.6% 0 - benign(0.017) deleterious(0.01) neutral(0.406) NULL PAK3 5063 genome.wustl.edu 37 X 110389769 110389769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128168.1 +1 reviewed p.Q120H 1.000 67 0% 58 15.5% 0 - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_PBD PAK3 5063 genome.wustl.edu 37 X 110439164 110439164 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001128168.1 +1 reviewed p.K438T 1.000 146 0% 50 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CAPN6 827 genome.wustl.edu 37 X 110489922 110489922 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014289.3 -1 reviewed p.S603 0.077 123 0% 69 31.9% 13 100% - - - HMMSmart_C2,superfamily_C2_CaLB TRPC5 7224 genome.wustl.edu 37 X 111020011 111020011 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012471.2 -1 reviewed p.P818S 1.000 107 0% 31 32.3% 0 - benign(0) tolerated(0.4) neutral(0.016) NULL TRPC5 7224 genome.wustl.edu 37 X 111022277 111022277 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012471.2 -1 reviewed p.R723I 1.000 338 0% 92 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPC5 7224 genome.wustl.edu 37 X 111025349 111025349 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012471.2 -1 reviewed p.E638 1.000 103 0% 53 20.8% 0 - - - - NULL TRPC5 7224 genome.wustl.edu 37 X 111090401 111090401 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_012471.2 -1 reviewed p.I547 0.761 135 0% 103 36.9% 0 - - - - HMMPfam_Ion_trans LHFPL1 340596 genome.wustl.edu 37 X 111903898 111903898 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178175.3 -1 reviewed p.E146D 0.990 173 0% 91 25.3% 0 - benign(0.029) deleterious(0.02) neutral(0.385) HMMPfam_L_HGMIC_fpl HTR2C 3358 genome.wustl.edu 37 X 114082611 114082611 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000868.2 +1 reviewed p.S132Y 0.992 305 0% 253 34% 0 - benign(0.01) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_SSF81321 HTR2C 3358 genome.wustl.edu 37 X 114141284 114141284 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000868.2 +1 reviewed p.T228M 0.997 89 0% 31 41.9% 0 - probably_damaging(0.987) tolerated(0.08) deleterious(0.736) HMMPfam_7tm_1,superfamily_SSF81321 IL13RA2 3598 genome.wustl.edu 37 X 114249052 114249052 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000640.2 -1 reviewed p.W111L 0.000 130 0% 38 50% 0 - benign(0.031) tolerated(0.44) neutral(0.014) superfamily_FN_III-like LRCH2 57631 genome.wustl.edu 37 X 114400025 114400025 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020871.3 -1 validated p.G433E 1.000 269 0% 129 25.6% 0 - benign(0) tolerated(0.66) neutral(0.003) NULL LRCH2 57631 genome.wustl.edu 37 X 114400180 114400180 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020871.3 -1 validated p.D413Y 1.000 263 0% 133 26.3% 0 - possibly_damaging(0.908) deleterious(0.02) deleterious(0.744) NULL LRCH2 57631 genome.wustl.edu 37 X 114404895 114404895 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020871.3 -1 validated p.S322N 0.998 223 0% 101 32.7% 0 - benign(0) tolerated(0.47) neutral(0.011) superfamily_SSF52058 RBMXL3 139804 genome.wustl.edu 37 X 114426383 114426383 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145346.1 +1 validated p.G793 0.994 50 0% 63 27% 0 - - - - NULL LUZP4 51213 genome.wustl.edu 37 X 114540854 114540854 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016383.3 +1 validated p.P143T 0.001 82 0% 125 28% 0 - benign(0.007) tolerated(0.28) neutral(0.032) NULL AGTR2 186 genome.wustl.edu 37 X 115304271 115304271 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000686.4 +1 reviewed p.K246 0.992 200 0% 55 30.9% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLC6A14 11254 genome.wustl.edu 37 X 115588928 115588928 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_007231.3 +1 reviewed p.G590* 1.000 222 0% 130 26.2% 0 - - - - HMMPfam_SNF WDR44 54521 genome.wustl.edu 37 X 117577650 117577650 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_019045.4 +1 reviewed p.A838S 1.000 176 0% 116 19% 14 0% possibly_damaging(0.929) deleterious(0.03) deleterious(0.740) superfamily_WD40 repeat-like DOCK11 139818 genome.wustl.edu 37 X 117743280 117743280 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144658.3 +1 validated p.A973T 1.000 78 0% 39 25.6% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DOCK11 139818 genome.wustl.edu 37 X 117817097 117817097 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_144658.3 +1 validated p.E2007* 1.000 128 0% 67 35.8% 7 0% - - - HMMPfam_Ded_cyto IL13RA1 3597 genome.wustl.edu 37 X 117895177 117895177 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001560.2 +1 reviewed p.Q251H 0.447 213 0% 151 21.2% 31 0% benign(0.393) tolerated(0.17) neutral(0.185) superfamily_Fibronectin type III IL13RA1 3597 genome.wustl.edu 37 X 117925802 117925802 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001560.2 +1 reviewed p.K423N 1.000 184 0% 188 36.2% 28 0% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL LONRF3 79836 genome.wustl.edu 37 X 118116845 118116845 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001031855.1 +1 reviewed p.E333G 1.000 158 0% 199 11.6% 0 - possibly_damaging(0.895) tolerated(0.18) neutral(0.409) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like LONRF3 79836 genome.wustl.edu 37 X 118124488 118124488 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000439603 +1 known p.R226* 0.995 212 0% 153 33.3% 1 0% - - - superfamily_RING/U-box ENSG00000248857 0 genome.wustl.edu 37 X 118220966 118220966 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000440399 -1 known p.E816* 0.000 135 0% 76 31.6% 0 - probably_damaging(0.99) - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118221639 118221639 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020721.1 -1 validated p.K1185T 0.001 112 0% 58 20.7% 0 - probably_damaging(0.999) - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118239012 118239012 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_020721.1 -1 validated p.E337 0.000 205 0% 73 34.2% 0 - - - - NULL NKRF 55922 genome.wustl.edu 37 X 118723549 118723549 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017544.3 -1 reviewed p.Y613 0.950 212 0% 166 15.1% 18 0% - - - HMMPfam_R3H,HMMSmart_SM00393,superfamily_R3H domain NKRF 55922 genome.wustl.edu 37 X 118724045 118724045 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017544.3 -1 reviewed p.S448Y 1.000 133 0% 96 10.4% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_dsRNA-binding domain-like NKRF 55922 genome.wustl.edu 37 X 118724221 118724221 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017544.3 -1 reviewed p.E389D 1.000 117 0% 84 27.4% 11 0% probably_damaging(0.98) tolerated(0.06) deleterious(0.746) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like NKRF 55922 genome.wustl.edu 37 X 118724852 118724852 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017544.3 -1 reviewed p.A179V 0.942 134 0% 73 34.2% 6 0% possibly_damaging(0.952) deleterious(0.02) deleterious(0.778) NULL NKRF 55922 genome.wustl.edu 37 X 118726448 118726448 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017544.3 -1 reviewed p.L5I 0.997 196 0% 140 35% 5 100% possibly_damaging(0.858) tolerated(0.3) neutral(0.360) NULL RNF113A 7737 genome.wustl.edu 37 X 119005560 119005560 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006978.2 -1 reviewed p.S6F 0.079 36 0% 54 22.2% 18 5.5% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL AKAP14 158798 genome.wustl.edu 37 X 119037538 119037538 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178813.5 +1 reviewed p.E84K 0.000 119 0% 108 24.1% 0 - benign(0) tolerated(0.51) neutral(0.009) NULL NKAP 79576 genome.wustl.edu 37 X 119070318 119070318 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024528.3 -1 reviewed p.K205 0.999 387 0% 322 28% 7 0% - - - NULL C1GALT1C1 29071 genome.wustl.edu 37 X 119760844 119760844 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001011551.2 -1 reviewed p.R60C 1.000 181 0% 300 33% 26 0% possibly_damaging(0.862) tolerated(0.2) neutral(0.382) NULL CT47B1 643311 genome.wustl.edu 37 X 120007855 120007855 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001145718.1 -1 validated p.P265 0.001 440 0% 670 27.9% 0 - - - - NULL MRRFP1 286423 genome.wustl.edu 37 X 122251291 122251291 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000435941 -1 known p.L107I 1.000 148 0% 68 26.5% 0 - benign(0.155) tolerated(0.06) neutral(0.336) HMMPfam_RRF,superfamily_Ribosome_recyc_fac MRRFP1 286423 genome.wustl.edu 37 X 122251585 122251585 + Missense_Mutation SNP G G A rs180694072 by1000genomes TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000435941 -1 known p.R9C 0.007 105 0% 42 26.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL THOC2 57187 genome.wustl.edu 37 X 122778702 122778702 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001081550.1 -1 validated p.S496F 1.000 139 0% 82 32.9% 7 0% possibly_damaging(0.641) deleterious(0.04) deleterious(0.574) NULL THOC2 57187 genome.wustl.edu 37 X 122837349 122837349 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001081550.1 -1 validated p.R77C 1.000 77 0% 143 30.1% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL XIAP 331 genome.wustl.edu 37 X 123020016 123020016 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001167.2 +1 reviewed p.K168N 0.025 167 0% 113 44.2% 4 0% benign(0.001) tolerated(0.47) neutral(0.011) HMMPfam_BIR,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,superfamily_SSF57924 XIAP 331 genome.wustl.edu 37 X 123034375 123034375 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001167.2 +1 reviewed p.E378K 1.000 95 0% 69 20.3% 4 0% benign(0.07) tolerated(0.57) neutral(0.011) superfamily_SSF57924 XIAP 331 genome.wustl.edu 37 X 123034442 123034442 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001167.2 +1 reviewed p.S400Y 0.995 113 0% 105 25.7% 3 0% possibly_damaging(0.492) deleterious(0) deleterious(0.609) superfamily_SSF57924 STAG2 10735 genome.wustl.edu 37 X 123224466 123224466 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042749.1 +1 validated p.E1107* 1.000 272 0% 124 29.8% 134 0% - - - superfamily_ARM-type_fold LOC100129231 100129231 genome.wustl.edu 37 X 123338554 123338554 + RNA SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XR_078598.1 -1 model NULL 1.000 61 0% 29 17.2% 0 - - - - - SH2D1A 4068 genome.wustl.edu 37 X 123504136 123504136 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002351.4 +1 reviewed p.K104N 0.990 161 0% 51 29.4% 2 0% benign(0.002) tolerated(0.13) neutral(0.253) superfamily_SH2 domain ODZ1 10178 genome.wustl.edu 37 X 123514839 123514839 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014253.3 -1 reviewed p.F2575 1.000 66 0% 26 26.9% 6 0% - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123516586 123516586 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014253.3 -1 reviewed p.E2451D 1.000 110 0% 44 38.6% 1 0% benign(0) tolerated(1) - NULL ODZ1 10178 genome.wustl.edu 37 X 123526105 123526105 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014253.3 -1 reviewed p.L1822I 1.000 188 0% 96 12.5% 1 0% benign(0.001) tolerated(0.7) neutral(0.002) NULL ODZ1 10178 genome.wustl.edu 37 X 123615688 123615688 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014253.3 -1 reviewed p.K1274N 1.000 111 0% 40 37.5% 4 0% benign(0.218) tolerated(0.42) neutral(0.035) superfamily_SSF101898 ODZ1 10178 genome.wustl.edu 37 X 123785874 123785874 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014253.3 -1 reviewed p.S490L 0.782 208 0% 90 25.6% 1 100% benign(0.089) tolerated(0.56) neutral(0.013) NULL DCAF12L1 139170 genome.wustl.edu 37 X 125686027 125686027 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_178470.4 -1 reviewed p.D189N 0.908 54 0% 107 30.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CXorf64 100130613 genome.wustl.edu 37 X 125955209 125955209 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001122716.1 +1 validated p.P196 0.000 101 0% 44 29.5% 0 - - - - NULL ACTRT1 139741 genome.wustl.edu 37 X 127185622 127185622 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_138289.3 -1 reviewed p.I188 0.997 127 0% 35 17.1% 0 - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 SMARCA1 6594 genome.wustl.edu 37 X 128627040 128627040 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003069.3 -1 reviewed p.E547* 1.000 52 0% 31 45.2% 14 0% - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases SMARCA1 6594 genome.wustl.edu 37 X 128638769 128638769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003069.3 -1 reviewed p.S370Y 1.000 257 0% 177 31.1% 11 0% probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_SNF2_N,HMMSmart_SM00487 SMARCA1 6594 genome.wustl.edu 37 X 128649932 128649932 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003069.3 -1 reviewed p.E156 1.000 207 0% 216 35.2% 15 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases OCRL 4952 genome.wustl.edu 37 X 128703278 128703278 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000276.3 +1 reviewed p.L502I 1.000 173 0% 249 34.5% 8 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like OCRL 4952 genome.wustl.edu 37 X 128724242 128724242 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000276.3 +1 reviewed p.D901N 1.000 266 0% 120 34.2% 7 0% possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) NULL XPNPEP2 7512 genome.wustl.edu 37 X 128886210 128886210 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003399.5 +1 reviewed p.I302 0.000 117 0% 117 31.6% 1 0% - - - NULL SASH3 54440 genome.wustl.edu 37 X 128927718 128927718 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018990.3 +1 reviewed p.C351 1.000 43 0% 44 29.5% 28 0% - - - NULL UTP14A 10813 genome.wustl.edu 37 X 129040194 129040194 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006649.3 +1 reviewed p.A3V 0.000 116 0% 79 39.2% 6 0% benign(0) tolerated(0.54) neutral(0.007) NULL UTP14A 10813 genome.wustl.edu 37 X 129054481 129054481 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006649.3 +1 reviewed p.E267D 0.003 164 0% 143 35.7% 10 0% benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Utp14 UTP14A 10813 genome.wustl.edu 37 X 129055253 129055253 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_006649.3 +1 reviewed p.E346D 0.001 87 0% 77 29.9% 16 0% benign(0.019) tolerated(0.38) neutral(0.019) HMMPfam_Utp14 BCORL1 63035 genome.wustl.edu 37 X 129148815 129148815 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000441294 +1 known p.L125I 1.000 72 0% 64 17.2% 2 0% - - - NULL ELF4 2000 genome.wustl.edu 37 X 129206263 129206263 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127197.1 -1 reviewed p.S157Y 0.006 316 0% 362 30.9% 4 0% possibly_damaging(0.751) tolerated(0.21) neutral(0.320) NULL ELF4 2000 genome.wustl.edu 37 X 129215263 129215263 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001127197.1 -1 reviewed p.F14 1.000 221 0% 275 25.8% 2 0% - - - NULL ENOX2 10495 genome.wustl.edu 37 X 129768984 129768984 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182314.1 -1 reviewed p.K494Q 1.000 314 0% 184 26.1% 5 0% benign(0.045) tolerated(0.66) neutral(0.005) NULL IGSF1 3547 genome.wustl.edu 37 X 130408141 130408141 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001555.4 -1 reviewed p.R1264Q 1.000 205 0% 146 32.9% 0 - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL IGSF1 3547 genome.wustl.edu 37 X 130408696 130408696 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001555.4 -1 reviewed p.D1210Y 0.995 184 0% 116 29.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IGSF1 3547 genome.wustl.edu 37 X 130412665 130412665 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001555.4 -1 reviewed p.P604Q 1.000 35 0% 22 45.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Immunoglobulin MST4 51765 genome.wustl.edu 37 X 131205163 131205163 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016542.3 +1 reviewed p.L284M 1.000 133 0% 37 27% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) HS6ST2 90161 genome.wustl.edu 37 X 131762335 131762335 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077188.1 -1 reviewed p.P618 0.815 362 0% 165 32.7% 3 0% - - - NULL HS6ST2 90161 genome.wustl.edu 37 X 131762796 131762796 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077188.1 -1 reviewed p.L465 1.000 99 0% 50 24% 1 0% - - - HMMPfam_HS6ST HS6ST2 90161 genome.wustl.edu 37 X 132090959 132090959 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001077188.1 -1 reviewed p.T275I 1.000 42 0% 55 30.9% 3 66.6% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_HS6ST USP26 83844 genome.wustl.edu 37 X 132159805 132159805 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031907.1 -1 reviewed p.R815I 0.000 271 0% 154 24% 0 - benign(0.179) deleterious(0.01) neutral(0.422) HMMPfam_UCH,superfamily_Cysteine proteinases USP26 83844 genome.wustl.edu 37 X 132160042 132160042 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031907.1 -1 reviewed p.S736Y 0.004 92 0% 43 34.9% 0 - possibly_damaging(0.46) deleterious(0.02) deleterious(0.534) HMMPfam_UCH,superfamily_Cysteine proteinases USP26 83844 genome.wustl.edu 37 X 132161573 132161573 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031907.1 -1 reviewed p.E226* 0.000 153 0% 61 31.1% 0 - - - - NULL USP26 83844 genome.wustl.edu 37 X 132161704 132161704 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_031907.1 -1 reviewed p.R182I 0.000 175 0% 87 27.6% 0 - benign(0.016) deleterious(0.01) neutral(0.406) NULL GPC4 2239 genome.wustl.edu 37 X 132440115 132440115 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001448.2 -1 reviewed p.I315 1.000 131 0% 69 40.6% 36 0% - - - HMMPfam_Glypican CCDC160 347475 genome.wustl.edu 37 X 133378922 133378922 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101357.1 +1 provisional p.S31Y 0.004 59 0% 64 32.8% 7 0% possibly_damaging(0.922) tolerated(0.1) deleterious(0.658) NULL CCDC160 347475 genome.wustl.edu 37 X 133379392 133379392 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001101357.1 +1 provisional p.N188H 0.000 65 0% 90 26.7% 6 0% benign(0.282) tolerated(0.4) neutral(0.102) NULL HPRT1 3251 genome.wustl.edu 37 X 133609336 133609336 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000194.2 +1 reviewed p.R87I 1.000 187 0% 108 37% 80 90% benign(0.403) deleterious(0.02) deleterious(0.512) HMMPfam_Pribosyltran,superfamily_PRTase-like MIR450A1 554214 genome.wustl.edu 37 X 133674414 133674414 + RNA SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000362262 -1 known NULL 0.972 295 0% 422 31% 0 - - - - - FAM122B 159090 genome.wustl.edu 37 X 133923141 133923141 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_145284.5 -1 validated p.Q84K 1.000 153 0% 145 11.7% 37 0% benign(0.069) tolerated(0.23) neutral(0.046) NULL LOC728470 728470 genome.wustl.edu 37 X 134314303 134314303 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343844.1 -1 model p.S202Y 0.995 95 0% 49 46.9% 0 - - - - NULL LOC728470 728470 genome.wustl.edu 37 X 134314320 134314320 + Silent SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e XM_002343844.1 -1 model p.I196 0.908 80 0% 37 21.6% 0 - - - - NULL ZNF449 203523 genome.wustl.edu 37 X 134481296 134481296 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152695.5 +1 reviewed p.E85* 0.871 88 0% 121 28.9% 1 0% - - - HMMPfam_SCAN,HMMSmart_SM00431 ZNF449 203523 genome.wustl.edu 37 X 134494415 134494415 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152695.5 +1 reviewed p.R324Q 0.005 59 0% 33 30.3% 1 0% benign(0.297) tolerated(0.38) neutral(0.110) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF449 203523 genome.wustl.edu 37 X 134494808 134494808 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152695.5 +1 reviewed p.R455K 1.000 119 0% 75 29.3% 3 0% possibly_damaging(0.882) tolerated(0.16) neutral(0.404) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF449 203523 genome.wustl.edu 37 X 134494892 134494892 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_152695.5 +1 reviewed p.R483I 1.000 101 0% 56 25% 5 0% probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DDX26B 203522 genome.wustl.edu 37 X 134679393 134679393 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_182540.4 +1 validated p.N79H 1.000 184 0% 81 32.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_vWA-like SAGE1 55511 genome.wustl.edu 37 X 134986703 134986703 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018666.2 +1 reviewed p.V96 0.022 118 0% 51 37.3% 0 - - - - NULL SLC9A6 10479 genome.wustl.edu 37 X 135126644 135126644 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001042537.1 +1 reviewed p.L623I 1.000 82 0% 58 29.3% 8 0% possibly_damaging(0.437) tolerated(0.22) neutral(0.184) NULL FHL1 2273 genome.wustl.edu 37 X 135288732 135288732 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001449.4 +1 reviewed p.I47 0.640 62 0% 30 26.7% 2 0% - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) FHL1 2273 genome.wustl.edu 37 X 135290063 135290063 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001449.4 +1 reviewed p.F148L 1.000 65 0% 65 32.3% 3 0% benign(0.085) tolerated(0.65) neutral(0.009) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) MAP7D3 79649 genome.wustl.edu 37 X 135314247 135314247 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024597.3 -1 reviewed p.S290Y 0.000 152 0% 73 23.3% 1 0% benign(0.005) deleterious(0.04) neutral(0.349) NULL GPR112 139378 genome.wustl.edu 37 X 135426977 135426977 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153834.3 +1 reviewed p.S371Y 0.066 122 0% 74 35.1% 0 - benign(0.105) deleterious(0) neutral(0.453) NULL GPR112 139378 genome.wustl.edu 37 X 135427830 135427830 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153834.3 +1 reviewed p.I655M 0.125 126 0% 100 30% 0 - benign(0.007) deleterious(0) neutral(0.445) NULL GPR112 139378 genome.wustl.edu 37 X 135429317 135429317 + Missense_Mutation SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153834.3 +1 reviewed p.D1151G 0.008 129 0% 105 22.9% 0 - benign(0.376) deleterious(0.01) deleterious(0.526) NULL GPR112 139378 genome.wustl.edu 37 X 135430910 135430910 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153834.3 +1 reviewed p.S1682Y 0.021 83 0% 59 22% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL GPR112 139378 genome.wustl.edu 37 X 135445657 135445657 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153834.3 +1 reviewed p.G2433 0.999 154 0% 87 27.6% 0 - - - - NULL GPR112 139378 genome.wustl.edu 37 X 135453563 135453563 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153834.3 +1 reviewed p.K2491N 0.991 114 0% 43 25.6% 0 - probably_damaging(0.962) deleterious(0.02) deleterious(0.788) NULL GPR112 139378 genome.wustl.edu 37 X 135482212 135482212 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153834.3 +1 reviewed p.L2838 1.000 361 0% 305 33.1% 0 - - - - HMMPfam_7tm_2 GPR112 139378 genome.wustl.edu 37 X 135488104 135488104 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153834.3 +1 reviewed p.L2970V 1.000 243 0% 244 26.2% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_7tm_2 GPR112 139378 genome.wustl.edu 37 X 135496377 135496377 + Silent SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_153834.3 +1 reviewed p.I3032 0.000 111 0% 85 36.5% 0 - - - - NULL BRS3 680 genome.wustl.edu 37 X 135570694 135570694 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001727.1 +1 validated p.L141I 1.000 143 0% 111 28.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 BRS3 680 genome.wustl.edu 37 X 135574302 135574302 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001727.1 +1 validated p.S323Y 1.000 225 0% 267 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 HTATSF1 27336 genome.wustl.edu 37 X 135582330 135582330 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014500.4 +1 reviewed p.V127 0.997 132 0% 182 31.3% 38 0% - - - superfamily_SSF54928 HTATSF1 27336 genome.wustl.edu 37 X 135584940 135584940 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014500.4 +1 reviewed p.E192K 1.000 119 0% 115 30.4% 22 86.3% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 ARHGEF6 9459 genome.wustl.edu 37 X 135750206 135750206 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004840.2 -1 reviewed p.K771N 0.995 259 0% 127 33.1% 5 0% benign(0.001) deleterious(0.05) neutral(0.345) NULL ARHGEF6 9459 genome.wustl.edu 37 X 135751652 135751652 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004840.2 -1 reviewed p.E727* 1.000 218 0.5% 116 29.3% 8 0% - - - NULL ARHGEF6 9459 genome.wustl.edu 37 X 135761711 135761711 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004840.2 -1 reviewed p.A605T 1.000 204 0% 115 33.9% 0 - probably_damaging(0.999) tolerated(0.35) deleterious(0.511) NULL ARHGEF6 9459 genome.wustl.edu 37 X 135770138 135770138 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004840.2 -1 reviewed p.D400N 1.000 193 0% 110 30% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ARHGEF6 9459 genome.wustl.edu 37 X 135829752 135829752 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004840.2 -1 reviewed e3-1 1.000 90 0% 83 36.1% 0 - - - - - RBMX 27316 genome.wustl.edu 37 X 135961579 135961579 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002139.3 -1 reviewed p.E3G 1.000 180 0% 221 25.8% 43 0% possibly_damaging(0.848) deleterious(0) deleterious(0.770) NULL ZIC3 7547 genome.wustl.edu 37 X 136649509 136649509 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003413.3 +1 reviewed p.S220I 0.999 12 0% 19 36.8% 0 - benign(0.013) deleterious(0.01) neutral(0.406) NULL MCF2 4168 genome.wustl.edu 37 X 138672031 138672031 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099855.1 -1 reviewed p.I838S 1.000 180 0% 52 32.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 MCF2 4168 genome.wustl.edu 37 X 138680647 138680647 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099855.1 -1 reviewed p.R676I 0.919 217 0% 72 18.1% 0 - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain MCF2 4168 genome.wustl.edu 37 X 138697208 138697208 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001099855.1 -1 reviewed p.Q459K 1.000 159 0% 44 25% 0 - benign(0.059) tolerated(1) neutral(0.004) NULL ATP11C 286410 genome.wustl.edu 37 X 138864854 138864854 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173694.4 -1 validated p.E605* 0.658 156 0% 118 31.4% 3 33.3% - - - superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP11C 286410 genome.wustl.edu 37 X 138867415 138867415 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173694.4 -1 validated p.R549C 1.000 158 0% 137 29.9% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP11C 286410 genome.wustl.edu 37 X 138882270 138882270 + Splice_Site SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173694.4 -1 validated e8-1 1.000 121 0% 72 29.2% 0 - - - - - ATP11C 286410 genome.wustl.edu 37 X 138886710 138886710 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173694.4 -1 validated p.L162I 1.000 142 0% 69 43.5% 3 0% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A ATP11C 286410 genome.wustl.edu 37 X 138901560 138901560 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173694.4 -1 validated p.K61N 1.000 68 0% 41 34.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SOX3 6658 genome.wustl.edu 37 X 139586645 139586645 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005634.2 -1 reviewed p.R194Q 0.997 42 0% 78 24.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box SPANXD 64648 genome.wustl.edu 37 X 140785702 140785702 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032417.2 -1 reviewed p.A72T 0.008 321 0% 248 33.1% 0 - benign(0.221) deleterious(0.01) neutral(0.428) HMMPfam_SPAN-X MAGEC1 9947 genome.wustl.edu 37 X 140995128 140995128 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005462.4 +1 reviewed p.E646 0.993 124 0% 66 21.2% 0 - - - - NULL MAGEC1 9947 genome.wustl.edu 37 X 140995851 140995851 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005462.4 +1 reviewed p.E887D 0.006 132 0% 85 25.9% 0 - unknown(0) tolerated(0.4) - NULL MAGEC1 9947 genome.wustl.edu 37 X 140996064 140996064 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005462.4 +1 reviewed p.E958D 0.002 121 0% 64 26.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_MAGE MAGEC2 51438 genome.wustl.edu 37 X 141291529 141291529 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_016249.3 -1 reviewed p.S82I 0.017 158 0% 135 29.6% 0 - benign(0.278) deleterious(0.04) neutral(0.379) NULL SPANXN3 139067 genome.wustl.edu 37 X 142596880 142596880 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001009609.2 -1 validated p.N64H 0.000 362 0% 176 27.8% 0 - benign(0.005) tolerated(0.53) neutral(0.007) HMMPfam_SPAN-X SLITRK4 139065 genome.wustl.edu 37 X 142717345 142717345 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173078.3 -1 reviewed p.D527A 1.000 175 0% 231 38.5% 4 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like SLITRK4 139065 genome.wustl.edu 37 X 142718894 142718894 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_173078.3 -1 reviewed p.A11S 1.000 54 0% 78 28.2% 8 0% benign(0) tolerated(0.2) neutral(0.049) NULL SLITRK2 84631 genome.wustl.edu 37 X 144904047 144904047 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144003.2 +1 reviewed p.C35Y 1.000 135 0% 201 13.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00013,superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144904622 144904622 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144003.2 +1 reviewed p.L227I 1.000 129 0% 184 18.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00082,superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144904645 144904645 + Silent SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144003.2 +1 reviewed p.I234 0.891 114 0% 161 12.4% 0 - - - - HMMSmart_SM00082,superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144904852 144904852 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144003.2 +1 reviewed p.R303 1.000 62 0% 80 30% 0 - - - - NULL SLITRK2 84631 genome.wustl.edu 37 X 144905024 144905024 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144003.2 +1 reviewed p.E361* 1.000 51 0% 85 38.8% 0 - - - - HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144905830 144905830 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001144003.2 +1 reviewed p.F629L 0.946 43 0% 74 31.1% 0 - possibly_damaging(0.481) tolerated(0.28) neutral(0.191) NULL CXorf1 9142 genome.wustl.edu 37 X 144909377 144909377 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004709.2 +1 validated p.F61C 0.417 237 0% 233 28.8% 0 - probably_damaging(0.954) - - NULL MIR513A1 574509 genome.wustl.edu 37 X 146295033 146295033 + RNA SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000385138 -1 known NULL 0.000 234 0% 132 31.1% 0 - - - - - MIR513A2 574510 genome.wustl.edu 37 X 146307346 146307346 + RNA SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000385249 -1 known NULL 0.004 176 0% 104 26% 0 - - - - - MIR510 574515 genome.wustl.edu 37 X 146353877 146353877 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000384909 -1 known NULL 0.090 116 0% 45 28.9% 0 - - - - - FMR1 2332 genome.wustl.edu 37 X 147014005 147014005 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002024.5 +1 reviewed p.G231D 1.000 260 0% 98 34.7% 21 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) AFF2 2334 genome.wustl.edu 37 X 148037245 148037245 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002025.3 +1 reviewed p.S557Y 0.363 105 0% 76 32.9% 1 100% probably_damaging(0.995) tolerated(0.14) deleterious(0.707) HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 148037296 148037296 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_002025.3 +1 reviewed p.T574M 0.000 105 0% 69 30.4% 0 - possibly_damaging(0.605) tolerated(0.09) deleterious(0.506) HMMPfam_AF-4 IDS 3423 genome.wustl.edu 37 X 148564405 148564405 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000202.5 -1 reviewed p.E509K 0.046 93 0% 65 33.8% 22 0% benign(0.005) tolerated(0.35) neutral(0.021) superfamily_Alkaline phosphatase-like MAMLD1 10046 genome.wustl.edu 37 X 149638407 149638407 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005491.3 +1 reviewed p.D188Y 0.993 31 0% 30 30% 3 0% possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) NULL MTM1 4534 genome.wustl.edu 37 X 149761103 149761103 + Nonsense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000252.2 +1 reviewed p.Y9* 1.000 269 0% 133 30.8% 1 0% - - - NULL MTMR1 8776 genome.wustl.edu 37 X 149867756 149867756 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003828.2 +1 reviewed p.V79M 1.000 210 0% 225 36.9% 5 0% possibly_damaging(0.86) deleterious(0.04) deleterious(0.681) NULL MTMR1 8776 genome.wustl.edu 37 X 149905191 149905191 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003828.2 +1 reviewed p.S394L 0.960 121 0.8% 85 37.6% 27 0% benign(0.002) deleterious(0.04) neutral(0.349) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II MTMR1 8776 genome.wustl.edu 37 X 149924161 149924161 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003828.2 +1 reviewed p.D553N 1.000 248 0% 207 30.9% 11 0% benign(0) tolerated(1) - superfamily_(Phosphotyrosine protein) phosphatases II FATE1 89885 genome.wustl.edu 37 X 150885865 150885865 + Splice_Site SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000370348 +1 known e2+1 0.000 91 0% 87 28.7% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) - CNGA2 1260 genome.wustl.edu 37 X 150908062 150908062 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005140.1 +1 reviewed p.E78* 1.000 125 0% 84 33.3% 0 - - - - NULL CNGA2 1260 genome.wustl.edu 37 X 150908164 150908164 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005140.1 +1 reviewed p.D112N 0.987 109 0% 80 31.2% 0 - benign(0.001) tolerated(0.79) neutral(0.001) NULL CNGA2 1260 genome.wustl.edu 37 X 150911103 150911103 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005140.1 +1 reviewed p.R193Q 0.257 123 0% 63 25.4% 0 - probably_damaging(0.997) tolerated(0.4) deleterious(0.482) HMMPfam_Ion_trans,superfamily_SSF81324 CNGA2 1260 genome.wustl.edu 37 X 150912845 150912845 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005140.1 +1 reviewed p.G624R 0.191 77 0% 56 41.1% 0 - possibly_damaging(0.736) deleterious(0.01) deleterious(0.675) NULL MAGEA10 4109 genome.wustl.edu 37 X 151303645 151303645 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001011543.1 -1 reviewed p.Q150* 0.007 136 0% 163 28.2% 0 - - - - HMMPfam_MAGE GABRA3 2556 genome.wustl.edu 37 X 151336979 151336979 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000808.3 -1 reviewed p.G400 0.899 361 0% 271 33.9% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA3 2556 genome.wustl.edu 37 X 151366179 151366179 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000808.3 -1 reviewed p.C286Y 1.000 185 0% 107 35.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA3 2556 genome.wustl.edu 37 X 151376561 151376561 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000808.3 -1 reviewed p.S230 0.985 208 0% 171 28.1% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD MIR105-2 406898 genome.wustl.edu 37 X 151562941 151562941 + RNA SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000385083 -1 known NULL 1.000 70 1.4% 44 15.9% 0 - - - - - GABRQ 55879 genome.wustl.edu 37 X 151821552 151821552 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018558.2 +1 reviewed p.G569 0.000 66 0% 64 34.4% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM MAGEA3 4102 genome.wustl.edu 37 X 151935665 151935665 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005362.3 -1 reviewed p.E168* 0.024 175 0% 171 35.1% 0 - - - - HMMPfam_MAGE CETN2 1069 genome.wustl.edu 37 X 151998193 151998193 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_004344.1 -1 reviewed p.L39I 1.000 237 0.4% 428 33.2% 32 0% benign(0.2) deleterious(0.01) neutral(0.425) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 NSDHL 50814 genome.wustl.edu 37 X 152037637 152037637 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001129765.1 +1 reviewed p.R367C 0.988 42 0% 44 38.6% 54 0% benign(0.019) tolerated(0.05) neutral(0.346) superfamily_NAD(P)-bd PNMA5 114824 genome.wustl.edu 37 X 152159518 152159518 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001103150.1 -1 validated p.L209 0.050 54 0% 90 32.2% 0 - - - - NULL PLXNB3 5365 genome.wustl.edu 37 X 153032418 153032418 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005393.2 +1 reviewed p.R46C 0.920 80 0% 163 27.6% 1 0% probably_damaging(0.984) deleterious(0.04) deleterious(0.779) superfamily_Sema PLXNB3 5365 genome.wustl.edu 37 X 153035631 153035631 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005393.2 +1 reviewed p.H572N 0.001 80 0% 151 29.8% 0 - benign(0.429) tolerated(0.43) neutral(0.153) NULL PLXNB3 5365 genome.wustl.edu 37 X 153040261 153040261 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005393.2 +1 reviewed p.D1311Y 1.000 31 0% 52 17.3% 1 0% unknown(0) deleterious(0.02) - NULL PLXNB3 5365 genome.wustl.edu 37 X 153043006 153043006 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000448847 +1 known p.T12M 0.701 90 0% 130 35.4% 1 0% - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PDZD4 57595 genome.wustl.edu 37 X 153069400 153069400 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032512.2 -1 provisional p.G573D 0.009 9 0.000 10 0.400 2 50% benign(0.058) tolerated(0.25) neutral(0.041) NULL PDZD4 57595 genome.wustl.edu 37 X 153070250 153070250 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_032512.2 -1 provisional p.E290K 1.000 30 0% 63 34.9% 0 - possibly_damaging(0.892) deleterious(0.01) deleterious(0.757) NULL L1CAM 3897 genome.wustl.edu 37 X 153128961 153128961 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000425.3 -1 reviewed p.P1167 0.039 62 0% 65 27.7% 1 0% - - - NULL L1CAM 3897 genome.wustl.edu 37 X 153131250 153131250 + Missense_Mutation SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000425.3 -1 reviewed p.E819G 0.087 62 0% 108 35.2% 0 - possibly_damaging(0.62) deleterious(0.01) deleterious(0.622) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III L1CAM 3897 genome.wustl.edu 37 X 153138106 153138106 + Silent SNP A A G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000425.3 -1 reviewed p.V46 0.948 45 0% 72 27.8% 2 0% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HCFC1 3054 genome.wustl.edu 37 X 153216301 153216301 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000444191 -1 known p.W464* 1.000 41 0% 81 40.7% 54 25.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Fibronectin type III HCFC1 3054 genome.wustl.edu 37 X 153217604 153217604 + Missense_Mutation SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005334.2 -1 reviewed p.G1650S 0.955 9 0.000 17 0.471 69 81.1% probably_damaging(0.972) tolerated(0.32) neutral(0.438) NULL HCFC1 3054 genome.wustl.edu 37 X 153229589 153229589 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_005334.2 -1 reviewed p.K163N 1.000 154 0% 212 36.3% 25 56% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) superfamily_Galactose oxidase central domain TMEM187 8269 genome.wustl.edu 37 X 153247597 153247597 + Silent SNP C C T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_003492.2 +1 reviewed p.F28 0.001 38 2.6% 68 27.9% 16 12.5% - - - NULL FLNA 2316 genome.wustl.edu 37 X 153577251 153577251 + Missense_Mutation SNP A A T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001110556.1 -1 reviewed p.I2637N 1.000 62 0% 97 30.9% 1293 0.1% probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin EMD 2010 genome.wustl.edu 37 X 153608072 153608072 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000117.2 +1 reviewed p.E35D 0.996 20 0% 15 46.7% 73 91.7% possibly_damaging(0.892) deleterious(0) deleterious(0.796) HMMPfam_LEM,HMMSmart_SM00540,superfamily_LEM domain PLXNA3 55558 genome.wustl.edu 37 X 153690558 153690558 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_017514.3 +1 reviewed p.D409N 1.000 23 0% 51 25.5% 12 58.3% benign(0.402) tolerated(0.36) neutral(0.149) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema UBL4A 8266 genome.wustl.edu 37 X 153713947 153713947 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_014235.3 -1 provisional p.I135 0.987 74 0% 142 34.5% 41 0% - - - NULL SLC10A3 8273 genome.wustl.edu 37 X 153716389 153716389 + Silent SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001142392.1 -1 reviewed p.G297 0.041 52 0% 84 36.9% 45 73.3% - - - HMMPfam_SBF SNORA36A 677817 genome.wustl.edu 37 X 153996912 153996912 + RNA SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NR_002969.1 +1 reviewed NULL 0.002 27 0% 28 39.3% 0 - - - - - DKC1 1736 genome.wustl.edu 37 X 154001487 154001487 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001363.3 +1 reviewed p.R373I 1.000 84 0% 137 27.7% 91 0% possibly_damaging(0.598) deleterious(0.01) deleterious(0.613) NULL ENSG00000203870 0 genome.wustl.edu 37 X 154059002 154059002 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e ENST00000369529 -1 known p.P44S 0.000 125 0% 95 32.6% 0 - probably_damaging(0.997) - - NULL F8 2157 genome.wustl.edu 37 X 154156929 154156929 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000132.3 -1 reviewed p.K1712N 0.344 240 0% 86 34.9% 0 - probably_damaging(0.977) deleterious(0.02) deleterious(0.802) superfamily_Cupredoxins F8 2157 genome.wustl.edu 37 X 154158021 154158021 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000132.3 -1 reviewed p.K1348N 0.000 395 0% 245 31.8% 0 - benign(0.244) deleterious(0.01) neutral(0.430) NULL F8 2157 genome.wustl.edu 37 X 154158219 154158219 + Silent SNP T T C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000132.3 -1 reviewed p.K1282 0.013 496 0% 282 23.4% 0 - - - - NULL F8 2157 genome.wustl.edu 37 X 154158738 154158738 + Missense_Mutation SNP T T G novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000132.3 -1 reviewed p.Q1109H 0.002 172 0% 110 37.3% 0 - benign(0.006) deleterious(0) neutral(0.445) NULL F8 2157 genome.wustl.edu 37 X 154182290 154182290 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000132.3 -1 reviewed p.L594M 1.000 161 0% 87 12.6% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_Cupredoxins F8 2157 genome.wustl.edu 37 X 154185254 154185254 + Missense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000132.3 -1 reviewed p.S577F 1.000 189 0% 99 24.2% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Cupredoxins F8 2157 genome.wustl.edu 37 X 154194882 154194882 + Missense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_000132.3 -1 reviewed p.D364Y 0.000 144 0% 72 22.2% 1 0% benign(0.004) tolerated(0.1) neutral(0.286) NULL BRCC3 79184 genome.wustl.edu 37 X 154319106 154319106 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024332.2 +1 reviewed p.K180N 1.000 268 0% 320 34.1% 27 0% probably_damaging(1) tolerated(0.05) deleterious(0.845) superfamily_JAB1/MPN domain BRCC3 79184 genome.wustl.edu 37 X 154348284 154348284 + Missense_Mutation SNP G G T novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_024332.2 +1 reviewed p.K270N 1.000 110 0% 63 19% 28 85.7% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL RAB39B 116442 genome.wustl.edu 37 X 154490267 154490267 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_171998.2 -1 reviewed p.R155* 1.000 138 0% 193 30.6% 0 - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CLIC2 1193 genome.wustl.edu 37 X 154528133 154528133 + Missense_Mutation SNP A A C novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_001289.4 -1 reviewed p.I86M 0.990 255 0% 290 31% 3 0% possibly_damaging(0.706) deleterious(0.04) deleterious(0.603) superfamily_Thioredoxin-like TMLHE 55217 genome.wustl.edu 37 X 154743771 154743771 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UF-01A-11D-A10B-09 TCGA-BS-A0UF-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18b5b443-8ce2-4b3a-a0e8-f53462352b8c 3eb6c594-f11e-4eda-bf9b-b86363ce2e6e NM_018196.3 -1 reviewed p.E172* 1.000 132 0% 88 30.7% 16 12.5% - - - superfamily_Clavaminate synthase-like