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 USP24 23358 genome.wustl.edu 37 1 55563666 55563668 + In_Frame_Del DEL CTC CTC - novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_015306.2 -1 validated p.G1688in_frame_del 1.000:0.997:1.000 - - - - - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP33 23032 genome.wustl.edu 37 1 78189120 78189120 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_015017.3 -1 validated p.A460T 0.987 344 0% 338 44.1% 2 0% benign(0) tolerated(0.67) neutral(0.003) HMMPfam_UCH,superfamily_Cysteine proteinases IGSF3 3321 genome.wustl.edu 37 1 117122291 117122292 + In_Frame_Ins INS - - TCC novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001542.2 -1 validated p.1040in_frame_insE 0.000:0.001 - - - - - - - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 FAM78B 149297 genome.wustl.edu 37 1 166135325 166135325 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001017961.3 -1 validated p.R54H 1.000 38 0% 117 23.1% 0 - possibly_damaging(0.943) tolerated(0.06) deleterious(0.710) NULL KCNT2 343450 genome.wustl.edu 37 1 196309693 196309693 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_198503.2 -1 validated p.V521I 1.000 126 0% 170 75.3% 0 - probably_damaging(0.975) tolerated(0.34) neutral(0.440) HMMPfam_BK_channel_a,superfamily_NAD(P)-binding Rossmann-fold domains MERTK 10461 genome.wustl.edu 37 2 112786220 112786220 + Missense_Mutation SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_006343.2 +1 reviewed p.G927R 0.671 85 0% 114 49.1% 7 71.4% benign(0.167) deleterious(0.03) neutral(0.380) NULL LRP1B 53353 genome.wustl.edu 37 2 141032087 141032087 + Missense_Mutation SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_018557.2 -1 validated p.R4350C 0.994 353 0.3% 328 48.8% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMSmart_EGF,PatternScan_EGF_1 TPRXL 348825 genome.wustl.edu 37 3 14106310 14106310 + Missense_Mutation SNP T T C novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c ENST00000326972 +1 known p.S212P 0.999 10 0% 10 40% 0 - unknown(0) deleterious(0.03) - NULL NICN1 84276 genome.wustl.edu 37 3 49463812 49463812 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_032316.3 -1 reviewed p.R61H 1.000 99 0% 154 51.9% 0 - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) NULL RFT1 91869 genome.wustl.edu 37 3 53156457 53156457 + Missense_Mutation SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_052859.3 -1 reviewed p.A130V 0.991 91 0% 106 51.9% 0 - benign(0.231) tolerated(0.16) neutral(0.082) HMMPfam_Rft-1 VPS8 23355 genome.wustl.edu 37 3 184588534 184588534 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001009921.2 +1 validated p.R559* 0.035 181 0% 197 44.7% 1 0% - - - NULL KLHL8 57563 genome.wustl.edu 37 4 88091287 88091287 + Missense_Mutation SNP C C A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_020803.3 -1 validated p.G494V 1.000 175 0% 168 40.5% 1 100% possibly_damaging(0.83) tolerated(0.63) neutral(0.319) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain PCDHAC2 56134 genome.wustl.edu 37 5 140347146 140347146 + Silent SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_018899.5 +1 reviewed p.Q265 0.033 49 0% 66 59.1% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like EYS 346007 genome.wustl.edu 37 6 65300639 65300639 + Nonsense_Mutation SNP A A C novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001142800.1 -1 reviewed p.Y1707* 0.000 101 0% 57 54.4% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases FIS1 51024 genome.wustl.edu 37 7 100887352 100887352 + Missense_Mutation SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c ENST00000435848 -1 known p.T28M 0.961 81 0% 111 47.7% 12 25% unknown(0) - - NULL LAMC3 10319 genome.wustl.edu 37 9 133967113 133967113 + Missense_Mutation SNP A A C novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_006059.3 +1 reviewed p.D1556A 1.000 31 0% 58 53.4% 13 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL MAMDC4 158056 genome.wustl.edu 37 9 139750061 139750061 + Silent SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c ENST00000413647 +1 known p.A469T 0.204 9 0.000 11 0.545 2 0% - - - HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module ADARB2 105 genome.wustl.edu 37 10 1284304 1284304 + Silent SNP G G A rs183812854 by1000genomes TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_018702.2 -1 reviewed p.S417 1.000 12 8.3% 29 55.2% 0 - - - - HMMPfam_A_deamin,HMMSmart_ADEAMc AKR1CL1 340811 genome.wustl.edu 37 10 5203920 5203920 + Missense_Mutation SNP A A C novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c ENST00000380510 -1 known p.F93V 0.270 251 0% 176 41.5% 0 - benign(0.03) deleterious(0.02) neutral(0.385) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase PTEN 5728 genome.wustl.edu 37 10 89624294 89624297 + Frame_Shift_Del DEL TAGA TAGA - novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 TAGA TAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c ENST00000371953 +1 known p.L23fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II MGEA5 10724 genome.wustl.edu 37 10 103577776 103577776 + Missense_Mutation SNP C C A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_012215.3 -1 validated p.V2L 1.000 15 0% 13 69.2% 5 40% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL AGBL2 79841 genome.wustl.edu 37 11 47713756 47713756 + Silent SNP T T G novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_024783.2 -1 validated p.G249 0.001 268 0% 314 42.7% 1 0% - - - NULL OR8J3 81168 genome.wustl.edu 37 11 55905188 55905188 + Missense_Mutation SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001004064.1 -1 provisional p.P3S 0.000 197 0% 92 92.4% 0 - benign(0) tolerated(0.64) neutral(0.003) superfamily_SSF81321 PRPF19 27339 genome.wustl.edu 37 11 60668157 60668157 + Missense_Mutation SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_014502.4 -1 validated p.A242V 1.000 182 0% 76 86.8% 4 100% benign(0.01) tolerated(1) neutral(0.001) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 INPPL1 3636 genome.wustl.edu 37 11 71944765 71944765 + Frame_Shift_Del DEL C C - novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001567.3 +1 reviewed p.S731fs 1.000 - - - - - - - - - HMMSmart_IPPc,superfamily_Exo_endo_phos ALX1 8092 genome.wustl.edu 37 12 85695167 85695167 + Missense_Mutation SNP C C A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_006982.2 +1 reviewed p.P299T 1.000 193 0% 191 44% 3 100% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL SCYL2 55681 genome.wustl.edu 37 12 100723090 100723090 + Missense_Mutation SNP T T G novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_017988.4 +1 provisional p.L585R 1.000 264 0% 224 33.9% 3 0% benign(0.016) deleterious(0) neutral(0.445) superfamily_ARM repeat DNAH10 196385 genome.wustl.edu 37 12 124364329 124364329 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_207437.3 +1 validated p.A2754V 0.996 126 0% 121 47.9% 0 - benign(0.009) tolerated(0.31) neutral(0.028) superfamily_P-loop containing nucleoside triphosphate hydrolases RBM23 55147 genome.wustl.edu 37 14 23371572 23371572 + Missense_Mutation SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001077351.1 -1 reviewed p.A317V 0.999 110 0% 93 44.1% 6 83.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RBM23 55147 genome.wustl.edu 37 14 23371573 23371573 + Missense_Mutation SNP C C A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001077351.1 -1 reviewed p.A317S 1.000 108 0% 94 42.6% 6 83.3% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD FANCM 57697 genome.wustl.edu 37 14 45605614 45605614 + Missense_Mutation SNP A A G novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_020937.2 +1 reviewed p.N127S 1.000 156 0% 186 50% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ARID4A 5926 genome.wustl.edu 37 14 58796245 58796245 + Splice_Site SNP G G T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_002892.3 +1 reviewed e9-1 1.000 188 0% 124 41.1% 0 - - - - - SPTB 6710 genome.wustl.edu 37 14 65262140 65262140 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001024858.2 -1 reviewed p.R520Q 1.000 55 0% 76 42.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MKRN3 7681 genome.wustl.edu 37 15 23812359 23812359 + Missense_Mutation SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_005664.3 +1 reviewed p.R477Q 0.025 271 0% 261 45.6% 0 - benign(0.424) tolerated(0.33) neutral(0.162) NULL ANPEP 290 genome.wustl.edu 37 15 90349632 90349632 + Silent SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001150.2 -1 reviewed p.S61 0.000 145 0% 203 50.2% 1 0% - - - NULL PPL 5493 genome.wustl.edu 37 16 4935381 4935381 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_002705.4 -1 reviewed p.S1092N 0.800 70 0% 96 51% 2 50% benign(0.174) tolerated(0.31) neutral(0.043) NULL ZNF668 79759 genome.wustl.edu 37 16 31073402 31073402 + Missense_Mutation SNP G G T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_024706.4 -1 validated p.P283T 1.000 32 0% 33 15.2% 7 0% probably_damaging(1) - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PDPR 55066 genome.wustl.edu 37 16 70187349 70187349 + Missense_Mutation SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_017990.3 +1 validated p.R703Q 1.000 394 0.3% 364 28.8% 1 0% possibly_damaging(0.827) tolerated(0.38) neutral(0.332) HMMPfam_GCV_T,superfamily_SSF103025 WSCD1 23302 genome.wustl.edu 37 17 6014175 6014175 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_015253.1 +1 validated p.T365I 0.999 103 0% 110 47.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 ENSG00000246237 0 genome.wustl.edu 37 17 38175428 38175429 + RNA INS - - ACACAC rs5820318 TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c ENST00000501516 +1 novel NULL 0.007:0.006 - - - - - - - - - - ABCA6 23460 genome.wustl.edu 37 17 67133468 67133468 + Missense_Mutation SNP C C G novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_080284.2 -1 reviewed p.M90I 1.000 375 0.3% 320 45% 0 - possibly_damaging(0.927) deleterious(0) deleterious(0.820) NULL LOC100289576 100289576 genome.wustl.edu 37 17 72428120 72428120 + Missense_Mutation SNP T T C novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c XM_002343581.1 -1 model p.N682S 0.002 15 0% 14 64.3% 0 - - - - NULL RAB12 201475 genome.wustl.edu 37 18 8624996 8624996 + Missense_Mutation SNP G G T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001025300.2 +1 validated p.W96L 1.000 416 0% 306 46.1% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 MAPK4 5596 genome.wustl.edu 37 18 48190376 48190376 + Silent SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_002747.3 +1 reviewed p.L16 0.444 61 0% 104 57.7% 1 100% - - - superfamily_Protein kinase-like (PK-like) CEACAM21 90273 genome.wustl.edu 37 19 42083748 42083748 + Silent SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001098506.1 +1 validated p.H87 0.000 148 0% 144 50.7% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PTPRT 11122 genome.wustl.edu 37 20 41306611 41306611 + Missense_Mutation SNP G G T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_133170.3 -1 reviewed p.L350M 1.000 127 0% 180 47.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ZNF217 7764 genome.wustl.edu 37 20 52193698 52193698 + Missense_Mutation SNP G G C rs7270855 byCluster;byFrequency;by2Hit2Allele;byHapMap;by1000genomes TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_006526.2 -1 validated p.N535K 0.000 137 0% 99 45.5% 1 0% benign(0.011) tolerated(0.15) neutral(0.241) NULL ENSG00000210082 0 genome.wustl.edu 37 MT 2203 2203 + RNA SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c ENST00000387347 +1 known NULL NULL 24 4.2% 14 92.9% 8063 96.2% - - - - ENSG00000210082 0 genome.wustl.edu 37 MT 3082 3082 + RNA SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c ENST00000387347 +1 known NULL NULL 3 0.000 4 1.000 8050 95.9% - - - - CXorf67 340602 genome.wustl.edu 37 X 51151376 51151376 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c ENST00000342995 +1 known p.P503L 0.007 20 0% 18 61.1% 0 - probably_damaging(0.999) - - NULL COL4A5 1287 genome.wustl.edu 37 X 107910413 107910413 + Missense_Mutation SNP G G A novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_033380.1 +1 reviewed p.G1202S 1.000 168 1.2% 146 35.6% 4 0% unknown(0) deleterious(0) - HMMPfam_Collagen IGSF1 3547 genome.wustl.edu 37 X 130415643 130415643 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001555.4 -1 reviewed p.A508T 0.987 181 0% 235 49.8% 0 - probably_damaging(0.979) tolerated(0.19) deleterious(0.471) NULL FHL1 2273 genome.wustl.edu 37 X 135289250 135289250 + Missense_Mutation SNP G G C novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_001449.4 +1 reviewed p.E78Q 1.000 64 0% 90 52.2% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) AFF2 2334 genome.wustl.edu 37 X 148044333 148044333 + Missense_Mutation SNP C C T novel TCGA-B5-A11Q-01A-11D-A122-09 TCGA-B5-A11Q-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63c08c12-8b27-475e-9f89-622578562a5e aced0cd1-0bfa-470a-b9e8-5d2861d37c9c NM_002025.3 +1 reviewed p.R927C 0.981 226 0.4% 246 42.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AF-4