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 KLHL21 9903 genome.wustl.edu 37 1 6653713 6653713 + Silent SNP A A G novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_014851.2 -1 provisional p.H502 0.985 23 0% 14 50% - - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain RHCE 6006 genome.wustl.edu 37 1 25715534 25715534 + Missense_Mutation SNP G G C novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_020485.3 -1 reviewed p.P291R 0.332 151 0% 151 28.5% - - benign(0.024) deleterious(0.01) neutral(0.407) HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) LRRIQ3 127255 genome.wustl.edu 37 1 74648290 74648290 + Missense_Mutation SNP G G T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001105659.1 -1 provisional p.H169N 0.082 57 0% 56 16.1% - - benign(0.001) tolerated(0.43) neutral(0.013) superfamily_Outer arm dynein light chain 1 GBP6 163351 genome.wustl.edu 37 1 89846010 89846010 + Missense_Mutation SNP C C T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_198460.2 +1 validated p.R231W 0.996 53 0% 68 39.7% - - possibly_damaging(0.924) deleterious(0) deleterious(0.818) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases DSTYK 25778 genome.wustl.edu 37 1 205138517 205138517 + Missense_Mutation SNP G G C novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_015375.2 -1 reviewed p.H366Q 1.000 58 0% 50 44% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CENPF 1063 genome.wustl.edu 37 1 214828711 214828711 + Missense_Mutation SNP C C G novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_016343.3 +1 reviewed p.S2817C 0.000 31 0% 36 50% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL DNAH6 1768 genome.wustl.edu 37 2 84784863 84784863 + Missense_Mutation SNP G G T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001370.1 +1 validated p.G536V 1.000 69 0% 64 29.7% - - benign(0) tolerated(0.31) neutral(0.027) NULL TTN 7273 genome.wustl.edu 37 2 179645904 179645904 + Missense_Mutation SNP A A G novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_133379.3 -1 reviewed p.I1156T 1.000 147 0% 153 33.3% - - benign(0.29) - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 POU1F1 5449 genome.wustl.edu 37 3 87322643 87322643 + Frame_Shift_Del DEL G G - novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001122757.1 -1 reviewed p.P49fs 0.626 - - - - - - - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 byCluster TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_006218.2 +1 reviewed p.H1047R 1.000 47 0% 38 34.2% - - possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) HMMSmart_PI3Kc,superfamily_Kinase_like KIAA0232 9778 genome.wustl.edu 37 4 6865466 6865466 + Silent SNP A A T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001100590.1 +1 validated p.G1119 0.991 79 0% 64 37.5% - - - - - NULL UBA6 55236 genome.wustl.edu 37 4 68488549 68488549 + Missense_Mutation SNP G G A novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_018227.5 -1 validated p.T1008I 1.000 75 0% 66 16.7% - - probably_damaging(0.981) tolerated(0.09) deleterious(0.722) HMMPfam_UBA_e1_C PDE5A 8654 genome.wustl.edu 37 4 120528172 120528172 + Missense_Mutation SNP C C T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001083.3 -1 reviewed p.E145K 1.000 57 0% 39 15.4% - - benign(0.001) tolerated(0.43) neutral(0.013) superfamily_GAF domain-like DMXL1 1657 genome.wustl.edu 37 5 118469995 118469995 + Frame_Shift_Del DEL G G - novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_005509.4 +1 validated p.V763fs 1.000 - - - - - - - - - superfamily_WD40 repeat-like C6orf223 221416 genome.wustl.edu 37 6 43970504 43970509 + In_Frame_Del DEL GCGGCG GCGGCG - rs72369323 TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 GCGGCG GCGGCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_153246.4 +1 validated p.AA127in_frame_del 0.161:0.158:0.154:0.150:0.146:0.142 - - - - - - - - - NULL KHDRBS2 202559 genome.wustl.edu 37 6 62887218 62887218 + Splice_Site SNP C C A novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_152688.2 -1 validated e2-1 1.000 128 0% 106 48.1% - - - - - - NFE2L3 9603 genome.wustl.edu 37 7 26225140 26225142 + In_Frame_Del DEL GAT GAT - novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_004289.6 +1 reviewed p.D609in_frame_del 0.912:0.922:0.922 - - - - - - - - - HMMSmart_BRLZ,HMMPfam_bZIP_1 ZFHX4 79776 genome.wustl.edu 37 8 77768163 77768163 + Silent SNP G G A novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_024721.4 +1 validated p.T2957 0.160 28 0% 10 50% - - - - - NULL FAM171A1 221061 genome.wustl.edu 37 10 15326012 15326012 + Missense_Mutation SNP C C T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001010924.1 -1 validated p.A64T 0.977 29 0% 23 34.8% - - benign(0.35) tolerated(0.1) neutral(0.397) HMMPfam_UPF0560 OR52I1 390037 genome.wustl.edu 37 11 4616176 4616176 + Missense_Mutation SNP A A G novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001005169.1 +1 validated p.Q303R 0.823 57 0% 27 22.2% - - benign(0.001) deleterious(0.04) neutral(0.349) superfamily_SSF81321 PRMT3 10196 genome.wustl.edu 37 11 20483698 20483699 + Frame_Shift_Ins INS - - C novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_005788.3 +1 validated p.C416fs 0.836:0.853 - - - - - - - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases KCNA4 3739 genome.wustl.edu 37 11 30033831 30033833 + In_Frame_Del DEL TCC TCC - novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_002233.2 -1 reviewed p.E135in_frame_del 0.994:0.998:0.996 - - - - - - - - - NULL OR10G4 390264 genome.wustl.edu 37 11 123886941 123886941 + Silent SNP C C T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001004462.1 +1 provisional p.I220 0.010 288 0% 228 36.4% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 CHD4 1108 genome.wustl.edu 37 12 6702721 6702721 + Missense_Mutation SNP C C T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001273.2 -1 reviewed p.R792Q 1.000 53 0% 53 50.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FKBP11 51303 genome.wustl.edu 37 12 49319159 49319161 + In_Frame_Del DEL AGC AGC - novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_016594.2 -1 validated p.L18in_frame_del 0.923:0.961:0.998 - - - - - - - - - NULL ENSG00000250952 0 genome.wustl.edu 37 12 49998331 49998333 + RNA DEL AGC AGC - novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 ENST00000508736 +1 novel NULL 0.000:0.001:0.000 - - - - - - - - - - CDX2 1045 genome.wustl.edu 37 13 28537404 28537404 + Missense_Mutation SNP G G A novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001265.3 -1 validated p.P264S 0.002 94 0% 57 45.6% - - unknown(0) tolerated(0.79) - NULL SERPINA9 327657 genome.wustl.edu 37 14 94929444 94929444 + Missense_Mutation SNP G G T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_175739.3 -1 validated p.P432T 0.995 28 0% 40 52.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins AK7 122481 genome.wustl.edu 37 14 96864452 96864452 + Missense_Mutation SNP T T G novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_152327.2 +1 validated p.I49S 0.615 54 0% 53 37.7% - - benign(0.085) tolerated(0.69) neutral(0.008) NULL DISP2 85455 genome.wustl.edu 37 15 40657448 40657448 + Missense_Mutation SNP C C G novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_033510.1 +1 reviewed p.Q274E 0.823 20 0.000 7 0.714 - - benign(0.001) tolerated(1) - NULL CNGB1 1258 genome.wustl.edu 37 16 57921890 57921890 + Missense_Mutation SNP C C T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001297.4 -1 reviewed p.A1111T 0.977 45 0% 35 22.9% - - probably_damaging(0.99) tolerated(0.21) deleterious(0.485) NULL PKD1L3 342372 genome.wustl.edu 37 16 71976800 71976800 + Missense_Mutation SNP C C G novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 ENST00000335106 -1 known p.Q1327H 0.041 58 0% 35 42.9% - - - - - NULL TP53 7157 genome.wustl.edu 37 17 7579505 7579506 + Frame_Shift_Del DEL TC TC - novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_000546.4 -1 reviewed p.D61fs 0.000:0.001 - - - - - - - - - NULL LOC646021 646021 genome.wustl.edu 37 17 29349042 29349042 + Missense_Mutation SNP C C A novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 XM_933339.3 +1 model p.P274Q 1.000 12 0% 16 25% - - - - - NULL HNF1B 6928 genome.wustl.edu 37 17 36070545 36070555 + Frame_Shift_Del DEL GGGTCCAGGCT GGGTCCAGGCT - novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 GGGTCCAGGCT GGGTCCAGGCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_000458.2 -1 reviewed p.S388fs 0.986:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_HNF-1B_C COASY 80347 genome.wustl.edu 37 17 40716556 40716556 + Frame_Shift_Del DEL C C - novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001042532.2 +1 validated p.R366fs 0.550 - - - - - - - - - HMMPfam_CTP_transf_2,superfamily_SSF52374 OTOP2 92736 genome.wustl.edu 37 17 72927021 72927021 + Missense_Mutation SNP G G A novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_178160.2 +1 validated p.G431R 0.000 39 0% 20 75% - - benign(0.08) tolerated(0.17) neutral(0.065) NULL TBCD 6904 genome.wustl.edu 37 17 80886996 80886996 + Missense_Mutation SNP C C T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_005993.4 +1 reviewed p.R901C 0.785 45 0% 29 13.8% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_ARM repeat CNDP2 55748 genome.wustl.edu 37 18 72183482 72183482 + Missense_Mutation SNP G G A novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_018235.2 +1 validated p.R308Q 0.995 38 0% 24 16.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M20,HMMPfam_M20_dimer,superfamily_Peptidase_M20_dimer,superfamily_SSF53187 PLEKHJ1 55111 genome.wustl.edu 37 19 2234193 2234193 + Missense_Mutation SNP G G C novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_018049.1 -1 provisional p.S92R 0.240 27 0% 16 25% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ENSG00000196686 0 genome.wustl.edu 37 19 21607879 21607882 + RNA DEL TAAT TAAT - rs34723025 byCluster;by1000genomes TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 TAAT TAAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 ENST00000341265 -1 novel NULL 0.746:0.785:0.823:0.825 - - - - - - - - - - ZNF780A 284323 genome.wustl.edu 37 19 40580460 40580460 + Missense_Mutation SNP C C T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001142577.1 -1 validated p.R631H 0.001 93 0% 74 50% - - benign(0.027) tolerated(0.12) neutral(0.262) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PPP2R1A 5518 genome.wustl.edu 37 19 52715971 52715971 + Missense_Mutation SNP C C G novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_014225.5 +1 reviewed p.P179R 1.000 33 0% 31 80.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat TMX4 56255 genome.wustl.edu 37 20 7990897 7990897 + Missense_Mutation SNP C C A novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_021156.2 -1 provisional p.G81V 1.000 76 0% 115 24.3% - - probably_damaging(0.978) tolerated(0.05) deleterious(0.766) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin ZNF512B 57473 genome.wustl.edu 37 20 62597492 62597583 + Frame_Shift_Del DEL GACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCT GACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCT - novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 GACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCT GACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_020713.1 -1 provisional p.G338fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.876:0.891:0.876:0.798:0.992:0.992:0.998:0.979:0.997:0.998:0.996:0.984:0.941:0.944:0.898:0.000 - - - - - - - - - NULL KCNE1 3753 genome.wustl.edu 37 21 35821640 35821640 + Missense_Mutation SNP C C T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_000219.3 -1 reviewed p.R98Q 0.935 24 0% 14 42.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ISK_Channel PLAC4 191585 genome.wustl.edu 37 21 42551117 42551117 + Missense_Mutation SNP G G C novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_182832.2 -1 provisional p.H147D 0.997 395 0% 247 27.1% - - - - - NULL CARD10 29775 genome.wustl.edu 37 22 37906308 37906309 + In_Frame_Ins INS - - CTCCTT novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_014550.3 -1 reviewed p.273in_frame_insKE 0.840:0.939 - - - - - - - - - NULL DMD 1756 genome.wustl.edu 37 X 31525491 31525491 + Missense_Mutation SNP A A T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_004006.2 -1 reviewed p.L2766Q 0.711 141 0% 152 36.2% - - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ZMYM3 9203 genome.wustl.edu 37 X 70465836 70465836 + Silent SNP C C T novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_005096.3 -1 reviewed p.P895 1.000 57 0% 42 47.6% - - - - - NULL DRP2 1821 genome.wustl.edu 37 X 100486680 100486680 + Missense_Mutation SNP G G A novel TCGA-FI-A2D2-01A-11D-A17D-09 TCGA-FI-A2D2-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51cf6fdd-5d58-478c-a967-9f9b5c165751 2b19d629-877e-4080-b238-bfedb9cfa250 NM_001939.2 +1 reviewed p.R15Q 1.000 79 0% 65 35.4% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL