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 DAP3 7818 genome.wustl.edu 37 1 155697427 155697427 + Silent SNP T T C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_004632.2 +1 reviewed p.D167 0.683 53 0% 79 20.3% - - - - - HMMPfam_DAP3 HADHA 3030 genome.wustl.edu 37 2 26462001 26462001 + Missense_Mutation SNP G G C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_000182.4 -1 reviewed p.C26W 0.034 54 0% 55 50.9% - - benign(0.412) deleterious(0.03) deleterious(0.497) NULL HADHA 3030 genome.wustl.edu 37 2 26462002 26462002 + Missense_Mutation SNP C C A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_000182.4 -1 reviewed p.C26F 0.035 54 0% 55 50.9% - - benign(0.027) tolerated(0.11) neutral(0.273) NULL ALMS1 7840 genome.wustl.edu 37 2 73827880 73827880 + Missense_Mutation SNP G G T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_015120.4 +1 reviewed p.S3914I 0.679 44 0% 59 39% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL PECR 55825 genome.wustl.edu 37 2 216916187 216916187 + Missense_Mutation SNP G G C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_018441.5 -1 validated p.I196M 1.000 43 0% 33 24.2% - - probably_damaging(0.96) deleterious(0) deleterious(0.848) superfamily_NAD(P)-binding Rossmann-fold domains GIGYF2 26058 genome.wustl.edu 37 2 233651941 233651941 + Missense_Mutation SNP G G A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_001103147.1 +1 reviewed p.R227H 1.000 60 0% 66 53% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CHL1 10752 genome.wustl.edu 37 3 386358 386358 + Missense_Mutation SNP G G A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_006614.2 +1 reviewed p.E272K 0.986 71 0% 80 20% - - benign(0.02) tolerated(0.54) neutral(0.009) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin CRBN 51185 genome.wustl.edu 37 3 3197908 3197908 + Missense_Mutation SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_016302.3 -1 reviewed p.D249N 1.000 35 0% 62 17.7% - - possibly_damaging(0.696) tolerated(0.21) neutral(0.293) HMMPfam_LON,HMMSmart_SM00464 HRH1 3269 genome.wustl.edu 37 3 11300904 11300909 + In_Frame_Del DEL GTGGGG GTGGGG - novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 GTGGGG GTGGGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_000861.3 +1 reviewed p.VG61in_frame_del 1.000:1.000:1.000:1.000:1.000:0.955 - - - - - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CAND2 23066 genome.wustl.edu 37 3 12858717 12858717 + Missense_Mutation SNP G G C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_012298.2 +1 validated p.Q669H 1.000 20 0% 23 65.2% - - possibly_damaging(0.886) tolerated(0.11) deleterious(0.618) superfamily_ARM-type_fold LRRC3B 116135 genome.wustl.edu 37 3 26751941 26751941 + Nonstop_Mutation SNP T T C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_052953.2 +1 provisional p.*260Q 1.000 28 0% 39 25.6% - - - - - NULL NBEAL2 23218 genome.wustl.edu 37 3 47043999 47043999 + Missense_Mutation SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_015175.1 +1 validated p.R1764W 0.008 13 0.000 8 0.875 - - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL RBM5 10181 genome.wustl.edu 37 3 50155888 50155889 + Frame_Shift_Del DEL GA GA - rs144835103 byCluster;by1000genomes TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_005778.1 +1 provisional p.*816fs 1.000:0.999 - - - - - - - - - NULL DVL3 1857 genome.wustl.edu 37 3 183882935 183882935 + Missense_Mutation SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_004423.3 +1 reviewed p.R212C 1.000 46 0% 63 22.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Dishevelled MUC4 4585 genome.wustl.edu 37 3 195512871 195512871 + Silent SNP G G A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_018406.5 -1 reviewed p.T1860 0.064 176 0% 278 39.9% - - - - - NULL WHSC2 7469 genome.wustl.edu 37 4 1985204 1985204 + Missense_Mutation SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_005663.3 -1 reviewed p.V488M 1.000 28 0% 16 37.5% - - benign(0.02) deleterious(0.01) neutral(0.407) NULL POLR2B 5431 genome.wustl.edu 37 4 57891127 57891127 + Missense_Mutation SNP C C G novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_000938.1 +1 reviewed p.L1014V 1.000 78 0% 60 33.3% - - benign(0.003) tolerated(0.29) neutral(0.029) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase MANBA 4126 genome.wustl.edu 37 4 103553416 103553416 + Missense_Mutation SNP T T C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_005908.3 -1 reviewed p.D813G 0.012 29 0% 30 23.3% - - benign(0.07) tolerated(0.35) neutral(0.026) NULL ST8SIA4 7903 genome.wustl.edu 37 5 100231463 100231463 + Nonsense_Mutation SNP G G C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_005668.4 -1 reviewed p.S47* 1.000 71 0% 76 19.7% - - - - - NULL CDO1 1036 genome.wustl.edu 37 5 115152004 115152004 + Missense_Mutation SNP C C G novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_001801.2 -1 validated p.E31Q 1.000 21 0% 27 40.7% - - possibly_damaging(0.924) tolerated(0.12) deleterious(0.633) HMMPfam_CDO_I PCDHA3 56145 genome.wustl.edu 37 5 140181279 140181279 + Missense_Mutation SNP C C T rs35124371 TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_018906.2 +1 reviewed p.S166L 0.984 42 0% 73 47.9% - - possibly_damaging(0.585) deleterious(0) deleterious(0.646) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA1 56114 genome.wustl.edu 37 5 140711775 140711775 + Silent SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_018912.2 +1 reviewed p.N508 0.001 27 0% 65 24.6% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ICA1 3382 genome.wustl.edu 37 7 8167637 8167637 + Missense_Mutation SNP C C G novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_004968.2 -1 reviewed p.G399A 1.000 44 0% 62 17.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ICA69 FLNC 2318 genome.wustl.edu 37 7 128481296 128481296 + Missense_Mutation SNP G G A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_001458.4 +1 reviewed p.R629Q 1.000 34 0% 22 68.2% - - possibly_damaging(0.861) deleterious(0.03) deleterious(0.698) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin ADCY8 114 genome.wustl.edu 37 8 131896964 131896964 + Frame_Shift_Del DEL T T - novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_001115.2 -1 reviewed p.N652fs 1.000 - - - - - - - - - HMMPfam_DUF1053 ZNF623 9831 genome.wustl.edu 37 8 144733545 144733545 + Silent SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_014789.3 +1 validated p.N501 0.637 32 0% 24 37.5% - - possibly_damaging(0.482) deleterious(0.02) deleterious(0.543) superfamily_C2H2 and C2HC zinc fingers TMEM215 401498 genome.wustl.edu 37 9 32784472 32784472 + Silent SNP C C A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_212558.2 +1 validated p.T97 1.000 24 0% 16 31.2% - - - - - NULL UBAP2 55833 genome.wustl.edu 37 9 33923014 33923014 + Frame_Shift_Del DEL T T - novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_018449.2 -1 reviewed p.S1008fs 1.000 - - - - - - - - - NULL LOC730110 730110 genome.wustl.edu 37 9 35148110 35148110 + Missense_Mutation SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 XM_002342891.1 -1 model p.R333H 0.962 34 0% 48 25% - - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PRKACG 5568 genome.wustl.edu 37 9 71628198 71628198 + Missense_Mutation SNP G G A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_002732.3 -1 reviewed p.R271W 0.996 31 0% 19 94.7% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ORM1 5004 genome.wustl.edu 37 9 117087347 117087347 + Missense_Mutation SNP C C A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_000607.2 +1 reviewed p.T152N 0.081 82 0% 49 42.9% - - possibly_damaging(0.579) deleterious(0.02) deleterious(0.582) HMMPfam_Lipocalin,superfamily_Calycin DDX31 64794 genome.wustl.edu 37 9 135507448 135507448 + Missense_Mutation SNP G G C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_022779.7 -1 reviewed p.Q596E 1.000 44 0% 52 73.1% - - benign(0.123) tolerated(0.81) neutral(0.011) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases MYBPC3 4607 genome.wustl.edu 37 11 47369209 47369209 + Missense_Mutation SNP G G A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_000256.3 -1 reviewed p.R282W 0.322 12 0% 15 33.3% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL CELF1 10658 genome.wustl.edu 37 11 47508734 47508734 + Missense_Mutation SNP G G T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_001025596.2 -1 reviewed p.H80N 1.000 31 0% 52 44.2% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD OR5R1 219479 genome.wustl.edu 37 11 56184981 56184981 + Missense_Mutation SNP G G A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_001004744.1 -1 provisional p.S243F 0.546 73 0% 61 27.9% - - probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 OR5R1 219479 genome.wustl.edu 37 11 56184982 56184982 + Missense_Mutation SNP A A G novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_001004744.1 -1 provisional p.S243P 0.228 73 0% 62 25.8% - - probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 HNRNPA1 3178 genome.wustl.edu 37 12 54675624 54675624 + Missense_Mutation SNP G G C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_031157.2 +1 reviewed p.V60L 1.000 35 0% 35 37.1% - - benign(0.082) tolerated(0.05) neutral(0.351) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD UTP20 27340 genome.wustl.edu 37 12 101685757 101685757 + Nonsense_Mutation SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_014503.2 +1 validated p.Q350* 0.243 63 0% 59 52.5% - - - - - superfamily_ARM repeat DNAH10 196385 genome.wustl.edu 37 12 124293490 124293490 + Missense_Mutation SNP A A C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_207437.3 +1 validated p.E927A 1.000 38 0% 52 30.8% - - benign(0.085) tolerated(0.23) neutral(0.048) NULL SMAD3 4088 genome.wustl.edu 37 15 67482870 67482870 + Missense_Mutation SNP C C A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_005902.3 +1 reviewed p.S425Y 1.000 25 0% 21 61.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLFN14 342618 genome.wustl.edu 37 17 33880384 33880384 + Silent SNP T T C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_001129820.1 -1 provisional p.L423 0.998 26 0% 35 14.3% - - - - - NULL SYNRG 11276 genome.wustl.edu 37 17 35930738 35930738 + Missense_Mutation SNP G G C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_007247.4 -1 reviewed p.Q449E 1.000 32 0% 24 16.7% - - possibly_damaging(0.823) tolerated(0.06) deleterious(0.634) NULL CDK12 51755 genome.wustl.edu 37 17 37627730 37627738 + In_Frame_Del DEL CCCCCTTTG CCCCCTTTG - novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 CCCCCTTTG CCCCCTTTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_016507.2 +1 validated p.PPL552in_frame_del 0.999:1.000:0.993:1.000:1.000:0.851:0.934:0.992:0.995 - - - - - - - - - NULL KRT38 8687 genome.wustl.edu 37 17 39596847 39596847 + Silent SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_006771.3 -1 reviewed p.Q109 1.000 55 0% 72 20.8% - - - - - HMMPfam_Filament MYOM1 8736 genome.wustl.edu 37 18 3126748 3126748 + Missense_Mutation SNP C C A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_003803.3 -1 reviewed p.G981V 1.000 80 0% 68 20.6% - - benign(0.005) tolerated(0.05) neutral(0.345) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ATG4D 84971 genome.wustl.edu 37 19 10659704 10659704 + Silent SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_032885.4 +1 reviewed p.C320 0.678 39 0% 244 10.7% - - - - - HMMPfam_Peptidase_C54 PRR12 57479 genome.wustl.edu 37 19 50099689 50099689 + Missense_Mutation SNP C C G novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_020719.1 +1 validated p.H699Q 1.000 6 0.000 7 0.571 - - unknown(0) - - NULL TAF4 6874 genome.wustl.edu 37 20 60584215 60584215 + Missense_Mutation SNP C C A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_003185.3 -1 reviewed p.V593L 1.000 37 0% 58 46.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TAFH,HMMSmart_TAFH KCNQ2 3785 genome.wustl.edu 37 20 62055538 62055538 + Silent SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_172107.2 -1 reviewed p.P413 0.104 10 0% 21 42.9% - - - - - NULL LSS 4047 genome.wustl.edu 37 21 47639403 47639403 + Missense_Mutation SNP A A G novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_001001438.2 -1 reviewed p.F212L 0.993 53 0% 53 28.3% - - benign(0) tolerated(0.17) neutral(0.059) superfamily_Terp_cyc_toroid ENSG00000211459 0 genome.wustl.edu 37 MT 1545 1545 + RNA SNP T T C novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 ENST00000389680 +1 known NULL NULL 108 0% 119 15.1% - - - - - - REPS2 9185 genome.wustl.edu 37 X 17040263 17040263 + Frame_Shift_Del DEL T T - novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_004726.2 +1 reviewed p.F139fs 0.997 - - - - - - - - - NULL DDX53 168400 genome.wustl.edu 37 X 23018928 23018928 + Missense_Mutation SNP G G A novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_182699.2 +1 validated p.A252T 1.000 34 0% 17 41.2% - - possibly_damaging(0.777) deleterious(0.01) deleterious(0.696) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 COX7B 1349 genome.wustl.edu 37 X 77158218 77158218 + Missense_Mutation SNP C C T novel TCGA-B5-A1MY-01A-11D-A142-09 TCGA-B5-A1MY-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 493e7008-551c-4c0e-b567-a0f31868629e 5d26a441-de0f-4e82-9f48-a15806397da7 NM_001866.2 +1 reviewed p.A40V 0.396 89 0% 75 34.7% - - benign(0.002) tolerated(0.38) neutral(0.018) HMMPfam_COX7B,superfamily_Mitochondrial cytochrome c oxidase subunit VIIb