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 CCNL2 81669 genome.wustl.edu 37 1 1323236 1323236 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_030937.4 -1 validated p.R378* 0.865 55 0% 62 38.7% 48 37.5% - - - NULL RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e CASZ1 54897 genome.wustl.edu 37 1 10699667 10699667 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001079843.1 -1 validated p.G1538S 1.000 19 0% 30 50% 93 52.6% possibly_damaging(0.729) tolerated(0.6) neutral(0.270) NULL ARHGEF10L 55160 genome.wustl.edu 37 1 17928658 17928658 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_018125.3 +1 validated p.D98 0.000 36 0% 29 31% 13 0% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27099098 27099098 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_006015.4 +1 reviewed p.Q1172* 1.000 256 0% 202 14.9% 44 6.8% - - - NULL CTPS 1503 genome.wustl.edu 37 1 41454317 41454317 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001905.2 +1 validated p.R164C 1.000 191 0% 169 24.3% 15 6.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CTP_synth_N,superfamily_SSF52540 KANK4 163782 genome.wustl.edu 37 1 62740564 62740564 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_181712.4 -1 validated p.R71Q 1.000 214 0% 188 43.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TGFBR3 7049 genome.wustl.edu 37 1 92185595 92185595 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_003243.3 -1 validated p.R423Q 0.000 194 0% 165 18.2% 3 0% benign(0.427) tolerated(0.4) neutral(0.155) NULL OTUD7B 56957 genome.wustl.edu 37 1 149943131 149943131 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_020205.2 -1 validated p.R45H 1.000 231 0% 285 15.8% 7 14.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GABPB2 126626 genome.wustl.edu 37 1 151076095 151076095 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_144618.2 +1 validated p.T227I 0.981 206 0% 312 15.1% 3 33.3% probably_damaging(0.995) tolerated(0.09) deleterious(0.754) NULL SPTA1 6708 genome.wustl.edu 37 1 158619725 158619725 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_003126.2 -1 reviewed p.R1164C 0.998 86 0% 96 10.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158644383 158644383 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_003126.2 -1 reviewed p.P399S 1.000 235 0% 243 12.3% 0 - possibly_damaging(0.598) deleterious(0.04) deleterious(0.556) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat REN 5972 genome.wustl.edu 37 1 204125913 204125913 + Missense_Mutation SNP G G A rs140771210 TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000537.3 -1 reviewed p.S237L 0.017 92 0% 121 34.7% 5 0% benign(0.001) tolerated(0.32) neutral(0.024) HMMPfam_Asp,superfamily_Acid proteases MTR 4548 genome.wustl.edu 37 1 237016364 237016364 + Silent SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000254.2 +1 reviewed p.T643 0.078 245 0% 245 12.7% 3 0% - - - superfamily_Dihydropteroate synthetase-like ATAD2B 54454 genome.wustl.edu 37 2 24033259 24033259 + Missense_Mutation SNP A A C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_017552.1 -1 validated p.F794C 1.000 186 0% 235 23% 2 50% benign(0.206) deleterious(0) neutral(0.465) superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF513 130557 genome.wustl.edu 37 2 27601362 27601362 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_144631.4 -1 validated p.Q257 1.000 41 0% 41 12.2% 101 13.8% - - - NULL BMP10 27302 genome.wustl.edu 37 2 69093688 69093688 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_014482.1 -1 reviewed p.P117L 0.766 140 0% 124 58.1% 0 - benign(0.006) tolerated(0.07) neutral(0.319) HMMPfam_TGFb_propeptide SMYD5 10322 genome.wustl.edu 37 2 73450186 73450186 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_006062.2 +1 validated p.R243Q 1.000 521 0% 635 17.2% 29 10.3% probably_damaging(0.988) tolerated(0.09) deleterious(0.734) HMMSmart_SET,superfamily_SSF82199 LONRF2 164832 genome.wustl.edu 37 2 100900813 100900813 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_198461.3 -1 validated p.R738C 0.999 45 0% 44 34.1% 6 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EPHA4 2043 genome.wustl.edu 37 2 222347411 222347411 + Splice_Site SNP C C A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004438.3 -1 reviewed e5-1 1.000 177 0% 176 15.9% 0 - - - - - ECEL1 9427 genome.wustl.edu 37 2 233350770 233350771 + Frame_Shift_Ins INS - - G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004826.2 -1 validated p.R199fs 0.458:0.998 - - - - - - - - - "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" KCNH8 131096 genome.wustl.edu 37 3 19479727 19479727 + Missense_Mutation SNP A A T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_144633.2 +1 reviewed p.I417F 0.981 172 0% 116 18.1% 0 - benign(0.133) tolerated(0.12) neutral(0.272) HMMPfam_Ion_trans,superfamily_SSF81324 NEK10 152110 genome.wustl.edu 37 3 27233605 27233605 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000396636 -1 known p.R807Q 1.000 446 0% 348 17.5% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) superfamily_Protein kinase-like (PK-like) OSBPL10 114884 genome.wustl.edu 37 3 31871585 31871585 + Missense_Mutation SNP C C A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_017784.4 -1 reviewed p.A226S 1.000 125 0% 109 17.4% 15 26.6% probably_damaging(0.974) deleterious(0.03) deleterious(0.780) NULL CTNNB1 1499 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C T rs121913403 byCluster TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001098209.1 +1 reviewed p.S37F 1.000 132 0% 114 37.7% 224 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MON1A 84315 genome.wustl.edu 37 3 49948186 49948186 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_032355.3 -1 validated p.G346S 0.995 59 0% 51 21.6% 31 3.2% possibly_damaging(0.772) tolerated(0.4) neutral(0.303) HMMPfam_Mon1 FLNB 2317 genome.wustl.edu 37 3 58095043 58095043 + Silent SNP C C A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001457.3 +1 reviewed p.P731 0.929 103 0% 82 20.7% 54 25.9% - - - HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin ATXN7 6314 genome.wustl.edu 37 3 63976488 63976488 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001128149.2 +1 reviewed p.C545 1.000 279 0% 211 21.3% 14 50% - - - NULL ROBO2 6092 genome.wustl.edu 37 3 77614263 77614263 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_002942.3 +1 reviewed p.R614H 1.000 145 0% 114 45.6% 22 45.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Fibronectin type III TMCC1 23023 genome.wustl.edu 37 3 129546846 129546846 + Missense_Mutation SNP C C A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001017395.3 -1 validated p.G126C 1.000 149 0% 126 14.3% 19 10.5% possibly_damaging(0.76) deleterious(0.01) deleterious(0.687) NULL PIK3R4 30849 genome.wustl.edu 37 3 130463462 130463462 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_014602.2 -1 validated p.R201C 1.000 400 0% 252 24.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like SLCO2A1 6578 genome.wustl.edu 37 3 133664057 133664057 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_005630.2 -1 validated p.C448Y 1.000 110 0% 80 41.2% 207 35.2% unknown(0) deleterious(0) - HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895 PIK3CB 5291 genome.wustl.edu 37 3 138417865 138417865 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_006219.1 -1 provisional p.E552K 1.000 145 0% 142 38% 5 60% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold SIAH2 6478 genome.wustl.edu 37 3 150480349 150480349 + Silent SNP G G T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_005067.5 -1 reviewed p.A96 1.000 33 0% 25 16% 65 0% - - - HMMSmart_RING,superfamily_SSF57850 IFT80 57560 genome.wustl.edu 37 3 160073849 160073849 + Silent SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000472555 -1 known p.Y34C 1.000 281 0% 199 38.7% 7 42.8% - - - superfamily_WD40 repeat-like,HMMPfam_WD40 PRKCI 5584 genome.wustl.edu 37 3 170015154 170015154 + Silent SNP G G C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_002740.5 +1 reviewed p.P520 0.995 257 0% 217 36.4% 13 46.1% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ZNF721 170960 genome.wustl.edu 37 4 435961 435961 + Silent SNP G G T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_133474.2 -1 validated p.S765 0.000 138 0% 112 16.1% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers WDR19 57728 genome.wustl.edu 37 4 39276469 39276469 + Missense_Mutation SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_025132.3 +1 reviewed p.R1203G 0.983 190 0% 160 14.4% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GNPDA2 132789 genome.wustl.edu 37 4 44713095 44713095 + Missense_Mutation SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_138335.1 -1 provisional p.T157A 1.000 321 0% 224 23.2% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glucosamine_iso,superfamily_NagB/RpiA/CoA transferase-like KDR 3791 genome.wustl.edu 37 4 55964921 55964921 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_002253.2 -1 reviewed p.A772 0.001 172 0% 135 13.3% 15 0% - - - NULL SRP72 6731 genome.wustl.edu 37 4 57344578 57344578 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_006947.3 +1 validated p.A226T 1.000 153 0% 104 13.5% 34 26.4% probably_damaging(0.96) tolerated(0.28) neutral(0.434) HMMPfam_TPR_1,superfamily_SSF48452 TMPRSS11B 132724 genome.wustl.edu 37 4 69093739 69093739 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_182502.3 -1 validated p.L381F 0.987 345 0% 249 45% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases LEF1 51176 genome.wustl.edu 37 4 109084746 109084747 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_016269.4 -1 reviewed p.L131fs 1.000:1.000 - - - - - - - - - HMMPfam_CTNNB1_binding LRAT 9227 genome.wustl.edu 37 4 155665764 155665764 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004744.3 +1 reviewed p.R96C 0.998 121 0% 82 17.1% 5 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SLC6A3 6531 genome.wustl.edu 37 5 1441507 1441507 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001044.4 -1 reviewed p.A129T 0.996 54 0% 66 25.8% 0 - possibly_damaging(0.599) deleterious(0.01) deleterious(0.613) HMMPfam_SNF PRDM9 56979 genome.wustl.edu 37 5 23526955 23526955 + Silent SNP G G T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_020227.2 +1 provisional p.G586 0.990 156 0% 110 32.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 AGXT2 64902 genome.wustl.edu 37 5 35025868 35025868 + Silent SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_031900.3 -1 reviewed p.E321 1.000 172 0% 154 12.3% 0 - - - - HMMPfam_Aminotran_3,PatternScan_AA_TRANSFER_CLASS_3,superfamily_PyrdxlP-dep_Trfase_major PIK3R1 5295 genome.wustl.edu 37 5 67593368 67593368 + Missense_Mutation SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_181523.1 +1 reviewed p.Q705R 1.000 268 0% 206 19.4% 201 35.3% probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_SH2 domain PJA2 9867 genome.wustl.edu 37 5 108714460 108714460 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_014819.4 -1 validated p.A243V 0.000 289 0% 249 41% 7 28.5% benign(0.012) deleterious(0) neutral(0.445) NULL PCDHA3 56145 genome.wustl.edu 37 5 140182713 140182713 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_018906.2 +1 reviewed p.R644H 0.006 60 0% 45 13.3% 0 - benign(0.303) deleterious(0.03) neutral(0.459) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140208057 140208057 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_018909.2 +1 reviewed p.N127 0.991 177 0% 147 12.2% 0 - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like CYFIP2 26999 genome.wustl.edu 37 5 156810346 156810346 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001037332.2 +1 validated p.I1062 0.923 54 0% 54 50% 19 15.7% - - - HMMPfam_FragX_IP SLC17A1 6568 genome.wustl.edu 37 6 25813442 25813442 + Splice_Site SNP C C A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_005074.3 -1 validated e6-1 0.538 275 0% 186 14.5% 0 - - - - - HLA-DQB2 3120 genome.wustl.edu 37 6 32726795 32726795 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000435145 -1 known p.R160W 0.997 39 2.6% 33 48.5% 29 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 UHRF1BP1 54887 genome.wustl.edu 37 6 34835099 34835099 + Silent SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_017754.3 +1 validated p.G1170 0.844 272 0% 214 13.6% 5 0% - - - NULL ENPP5 59084 genome.wustl.edu 37 6 46135541 46135541 + Silent SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_021572.4 -1 validated p.H153 0.069 129 0% 99 16.2% 7 14.2% - - - HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like TUBE1 51175 genome.wustl.edu 37 6 112402338 112402338 + Missense_Mutation SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_016262.4 -1 reviewed p.T95A 1.000 418 0% 350 12.9% 3 33.3% benign(0.001) tolerated(0.34) neutral(0.023) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like EPB41L2 2037 genome.wustl.edu 37 6 131229975 131229976 + Frame_Shift_Del DEL TT TT - novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001431.3 -1 validated p.K280fs 1.000:1.000 - - - - - - - - - HMMPfam_FERM_N,PatternScan_FERM_1,HMMSmart_B41,superfamily_SSF54236 ARID1B 57492 genome.wustl.edu 37 6 157517355 157517355 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_017519.2 +1 validated p.Q1289* 1.000 190 0% 116 12.9% 44 2.2% - - - NULL SYNJ2 8871 genome.wustl.edu 37 6 158483049 158483049 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_003898.3 +1 reviewed p.A327V 0.000 128 0% 138 39.1% 6 50% probably_damaging(0.992) tolerated(0.06) deleterious(0.770) HMMPfam_Syja_N PSMB1 5689 genome.wustl.edu 37 6 170855244 170855244 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_002793.3 -1 reviewed p.G84S 1.000 365 0% 241 17% 209 22% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Proteasome,PatternScan_PROTEASOME_B,superfamily_SSF56235 USP42 84132 genome.wustl.edu 37 7 6189655 6189655 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_032172.2 +1 validated p.E610K 1.000 101 1% 120 12.5% 9 11.1% probably_damaging(0.99) deleterious(0.05) deleterious(0.787) NULL C7orf62 219557 genome.wustl.edu 37 7 88423945 88423945 + Silent SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_152706.2 -1 predicted p.S104 0.000 181 0% 177 40.1% 0 - - - - NULL SAMD9 54809 genome.wustl.edu 37 7 92731564 92731564 + Missense_Mutation SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_017654.2 -1 validated p.N1283D 0.185 118 0% 113 13.3% 0 - possibly_damaging(0.892) - - NULL TECPR1 25851 genome.wustl.edu 37 7 97870558 97870558 + Splice_Site SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_015395.1 -1 provisional e5-2 1.000 18 0% 35 20% 1 100% - - - - PLXNA4 91584 genome.wustl.edu 37 7 131913187 131913187 + Missense_Mutation SNP C C T rs190791576 by1000genomes TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_020911.1 -1 validated p.R549H 1.000 145 0% 173 12.1% 12 8.3% benign(0.013) tolerated(0.6) neutral(0.005) HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat LOC728377 728377 genome.wustl.edu 37 7 143983521 143983521 + RNA SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 XR_078379.1 -1 model NULL 0.003 159 0% 166 5.4% 4 0% - - - - DPYSL2 1808 genome.wustl.edu 37 8 26484796 26484796 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001386.4 +1 validated p.G202 0.607 198 0% 241 17.4% 38 2.6% - - - HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases LEPROTL1 23484 genome.wustl.edu 37 8 29963298 29963298 + Missense_Mutation SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_015344.2 +1 validated p.N106D 1.000 379 0.5% 430 27.7% 63 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Vps55 TGS1 96764 genome.wustl.edu 37 8 56699343 56699343 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_024831.6 +1 validated p.P296S 0.001 191 0% 201 16.9% 9 22.2% benign(0.001) tolerated(0.7) neutral(0.002) NULL CSMD3 114788 genome.wustl.edu 37 8 113332134 113332134 + Missense_Mutation SNP T T G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_198123.1 -1 validated p.E2414D 1.000 398 0% 300 29% 0 - probably_damaging(0.973) tolerated(0.44) neutral(0.427) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain FAM91A1 157769 genome.wustl.edu 37 8 124780959 124780959 + Missense_Mutation SNP A A T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_144963.2 +1 validated p.E6V 1.000 14 0.000 8 0.625 5 20% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL UBAP1 51271 genome.wustl.edu 37 9 34241903 34241903 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_016525.4 +1 reviewed p.R294C 1.000 110 0% 96 13.5% 127 14.1% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL DAPK1 1612 genome.wustl.edu 37 9 90312007 90312007 + Silent SNP G G T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004938.2 +1 reviewed p.T833 0.000 627 0% 477 39.4% 11 54.5% - - - superfamily_SSF52540 USP20 10868 genome.wustl.edu 37 9 132630665 132630667 + In_Frame_Del DEL GAC GAC - rs67308408 byCluster;by1000genomes TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001008563.3 +1 validated p.D359in_frame_del 0.330:0.308:0.000 - - - - - - - - - HMMPfam_UCH,superfamily_SSF54001 RAPGEF1 2889 genome.wustl.edu 37 9 134501636 134501636 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_198679.1 -1 reviewed p.G460R 0.951 45 0% 47 23.4% 39 17.9% benign(0.282) tolerated(0.2) neutral(0.136) NULL PMPCA 23203 genome.wustl.edu 37 9 139307269 139307269 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_015160.1 +1 provisional p.A121V 0.973 602 0% 513 11.7% 28 10.7% benign(0) tolerated(0.34) neutral(0.023) superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16 ZMYND19 116225 genome.wustl.edu 37 9 140477059 140477059 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_138462.2 -1 validated p.A207V 1.000 43 0% 45 11.1% 68 14.7% benign(0.005) tolerated(0.39) neutral(0.016) HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 ASAH2 56624 genome.wustl.edu 37 10 51994202 51994202 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_019893.2 -1 validated p.P266 0.002 503 0% 324 18.8% 0 - - - - HMMPfam_Ceramidase_alk MYPN 84665 genome.wustl.edu 37 10 69934247 69934247 + Missense_Mutation SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_032578.2 +1 validated p.S800P 0.302 320 0% 310 41.3% 0 - benign(0) tolerated(0.43) neutral(0.013) NULL H2AFY2 55506 genome.wustl.edu 37 10 71868960 71868960 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_018649.2 +1 validated p.G317D 1.000 71 0% 65 36.9% 150 40% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Macro,superfamily_SSF52949 POLR3A 11128 genome.wustl.edu 37 10 79741954 79741954 + Silent SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_007055.3 -1 validated p.H1239 0.885 132 0% 159 40.9% 38 47.3% - - - HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 PTEN 5728 genome.wustl.edu 37 10 89690802 89690802 + Splice_Site SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000371953 +1 known e4-1 1.000 263 0% 208 38.5% 0 - - - - - PTEN 5728 genome.wustl.edu 37 10 89692779 89692788 + Frame_Shift_Del DEL ATCCTTTTGA ATCCTTTTGA - novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 ATCCTTTTGA ATCCTTTTGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000371953 +1 known p.Y88fs 1.000:1.000:1.000:1.000:0.979:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II STK32C 282974 genome.wustl.edu 37 10 134038000 134038000 + Missense_Mutation SNP C C T rs185020377 by1000genomes TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_173575.2 -1 reviewed p.A302T 0.989 59 0% 59 13.6% 7 0% benign(0.001) tolerated(0.31) neutral(0.027) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IRF7 3665 genome.wustl.edu 37 11 612704 612704 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004031.2 -1 reviewed p.A498T 0.759 41 0% 46 10.9% 27 11.1% benign(0) tolerated(0.97) - NULL NAV2 89797 genome.wustl.edu 37 11 19955323 19955323 + Silent SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_182964.5 +1 validated p.T511 0.005 257 0% 215 39.1% 3 33.3% - - - NULL ENSG00000205035 0 genome.wustl.edu 37 11 49830108 49830108 + Silent SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000357667 +1 known p.L345 0.073 68 0% 53 24.5% 0 - - - - NULL OR9Q1 219956 genome.wustl.edu 37 11 57947185 57947185 + Missense_Mutation SNP C C A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001005212.3 +1 validated p.A90E 0.001 174 0% 141 34.8% 0 - possibly_damaging(0.455) deleterious(0.02) deleterious(0.532) HMMPfam_7tm_1,superfamily_SSF81321 TUT1 64852 genome.wustl.edu 37 11 62343263 62343263 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_022830.2 -1 reviewed p.R643Q 0.698 261 0% 221 13.6% 16 0% probably_damaging(0.994) tolerated(0.37) deleterious(0.471) NULL BAD 572 genome.wustl.edu 37 11 64039165 64039165 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004322.3 -1 reviewed p.A100T 0.998 24 0% 30 16.7% 86 23.2% possibly_damaging(0.913) deleterious(0) deleterious(0.809) HMMPfam_Bcl-2_BAD RAB1B 81876 genome.wustl.edu 37 11 66043316 66043343 + Frame_Shift_Del DEL CCGCTATGCCAGCGAGAACGTCAATAAG CCGCTATGCCAGCGAGAACGTCAATAAG - novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 CCGCTATGCCAGCGAGAACGTCAATAAG CCGCTATGCCAGCGAGAACGTCAATAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_030981.2 +1 validated p.R108fs 1.000:1.000:1.000:1.000:1.000:1.000:0.988:1.000:1.000:1.000:1.000:1.000:0.719:1.000:1.000:1.000:1.000:1.000:0.989:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ACTN3 89 genome.wustl.edu 37 11 66323650 66323650 + Silent SNP C C A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001104.1 +1 reviewed p.A251 1.000 115 0% 123 22% 0 - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain ADRBK1 156 genome.wustl.edu 37 11 67051372 67051372 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001619.3 +1 reviewed p.D481 0.374 66 0% 61 21.3% 149 24.8% - - - HMMSmart_S_TK_X,superfamily_Kinase_like FAT3 120114 genome.wustl.edu 37 11 92085533 92085533 + Silent SNP C C T rs193044124 by1000genomes TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001008781.2 +1 validated p.S85 0.350 210 0% 127 16.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92085831 92085831 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001008781.2 +1 validated p.A185T 1.000 131 0% 88 20.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCUN1D5 84259 genome.wustl.edu 37 11 102937066 102937066 + Missense_Mutation SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_032299.3 -1 validated p.K163E 1.000 206 0% 117 17.1% 24 20.8% possibly_damaging(0.897) tolerated(0.06) deleterious(0.676) HMMPfam_DUF298 CACNA1C 775 genome.wustl.edu 37 12 2690914 2690914 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_199460.2 +1 reviewed p.R685Q 1.000 321 0% 264 16.3% 3 0% possibly_damaging(0.928) tolerated(0.18) neutral(0.431) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NRIP2 83714 genome.wustl.edu 37 12 2940019 2940019 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_031474.2 -1 validated p.R117H 0.991 125 0% 104 20.2% 3 0% benign(0.001) tolerated(1) - NULL MCRS1 10445 genome.wustl.edu 37 12 49959912 49959912 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001012300.1 -1 validated p.R46* 1.000 50 0% 39 10.3% 27 0% - - - NULL MMP19 4327 genome.wustl.edu 37 12 56233467 56233467 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000340290 -1 known p.R78* 0.954 68 0% 64 28.1% 8 0% - - - NULL XPOT 11260 genome.wustl.edu 37 12 64818394 64818394 + Missense_Mutation SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_007235.3 +1 reviewed p.M400V 1.000 248 0% 202 25.7% 21 23.8% benign(0.428) tolerated(0.42) neutral(0.153) superfamily_ARM-type_fold MIR492 574449 genome.wustl.edu 37 12 95228211 95228211 + RNA SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000385303 +1 known NULL 0.960 144 0% 129 15.5% 0 - - - - - IFT81 28981 genome.wustl.edu 37 12 110643254 110643254 + Nonsense_Mutation SNP A A T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001143779.1 +1 validated p.R551* 0.997 142 0% 103 37.9% 1 0% - - - NULL RBM19 9904 genome.wustl.edu 37 12 114377918 114377918 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_016196.3 -1 reviewed p.P595 0.589 42 0% 44 18.2% 17 0% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD COQ5 84274 genome.wustl.edu 37 12 120966825 120966825 + Silent SNP A A C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_032314.3 -1 validated p.A40 0.001 163 0% 137 27.7% 8 37.5% - - - NULL DHX37 57647 genome.wustl.edu 37 12 125470809 125470809 + Nonsense_Mutation SNP T T A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_032656.2 -1 reviewed p.K37* 0.071 242 0% 208 39.9% 0 - - - - NULL KL 9365 genome.wustl.edu 37 13 33635227 33635227 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004795.3 +1 reviewed p.R671* 0.000 45 0% 30 43.3% 3 33.3% - - - superfamily_(Trans)glycosidases KIAA0564 23078 genome.wustl.edu 37 13 42249349 42249349 + Splice_Site SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_015058.1 -1 validated e36+2 1.000 517 0% 388 16.8% 0 - - - - - MYCBP2 23077 genome.wustl.edu 37 13 77725034 77725036 + In_Frame_Del DEL TTG TTG - novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_015057.4 -1 validated p.Q2284in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_E set domains RPGRIP1 57096 genome.wustl.edu 37 14 21811209 21811209 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_020366.3 +1 reviewed p.M1118I 1.000 191 0% 137 14.6% 0 - benign(0) tolerated(1) - NULL WDHD1 11169 genome.wustl.edu 37 14 55454062 55454062 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_007086.2 -1 reviewed p.E524K 1.000 100 0% 67 40.3% 11 45.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_WD40_like DACT1 51339 genome.wustl.edu 37 14 59112424 59112424 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_016651.5 +1 validated p.S361 0.990 91 0% 77 14.3% 3 0% - - - NULL GOLGA5 9950 genome.wustl.edu 37 14 93299562 93299562 + Silent SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_005113.2 +1 reviewed p.L605 1.000 127 0% 129 19.4% 12 8.3% - - - HMMPfam_Golgin_A5 MIR541 100126308 genome.wustl.edu 37 14 101530892 101530892 + RNA SNP C C A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000401360 +1 known NULL 1.000 72 1.4% 92 34.8% 0 - - - - - IGHV3-16 28447 genome.wustl.edu 37 14 106622180 106622180 + Missense_Mutation SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000390604 -1 known p.Q22R 0.879 310 0% 224 14.7% 0 - benign(0.109) deleterious(0.01) neutral(0.414) HMMPfam_V-set,superfamily_SSF48726 OCA2 4948 genome.wustl.edu 37 15 28273033 28273033 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000275.2 -1 reviewed p.R167C 0.001 59 0% 46 13% 1 0% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL DUOX2 50506 genome.wustl.edu 37 15 45398780 45398780 + Missense_Mutation SNP G G T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_014080.4 -1 reviewed p.Q631K 0.995 453 0% 343 35.6% 0 - benign(0.004) tolerated(0.98) - NULL FBN1 2200 genome.wustl.edu 37 15 48786421 48786421 + Missense_Mutation SNP A A T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000138.4 -1 reviewed p.I903N 1.000 536 0% 377 25.2% 12 0% benign(0.001) tolerated(0.1) neutral(0.286) superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases SLC24A1 9187 genome.wustl.edu 37 15 65945013 65945013 + Missense_Mutation SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004727.2 +1 validated p.M973V 0.999 198 0% 179 11.2% 6 33.3% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_Na_Ca_ex CYP1A2 1544 genome.wustl.edu 37 15 75047325 75047325 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000761.3 +1 reviewed p.V483M 0.004 67 0% 69 39.1% 0 - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_p450,superfamily_Cytochrome_P450 COMMD4 54939 genome.wustl.edu 37 15 75630424 75630424 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_017828.3 +1 validated p.L9 1.000 146 0% 135 14.8% 66 21.2% - - - NULL SIN3A 25942 genome.wustl.edu 37 15 75673043 75673043 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001145357.1 -1 reviewed p.R1104* 1.000 194 0.5% 176 14.8% 50 2% - - - NULL SNX33 257364 genome.wustl.edu 37 15 75942562 75942562 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_153271.1 +1 provisional p.D373 0.533 58 0% 56 17.9% 48 25% - - - HMMPfam_BAR_3_WASP_bdg PSTPIP1 9051 genome.wustl.edu 37 15 77310863 77310863 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_003978.3 +1 reviewed p.T68M 0.974 96 0% 86 11.6% 3 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_FCH,HMMSmart_SM00055,superfamily_Prismane protein-like HMG20A 10363 genome.wustl.edu 37 15 77764133 77764133 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_018200.2 +1 provisional p.R198W 0.913 194 0% 166 19.9% 9 0% probably_damaging(0.984) deleterious(0.02) deleterious(0.814) NULL FAH 2184 genome.wustl.edu 37 15 80469907 80469907 + Missense_Mutation SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000137.1 +1 reviewed p.I314M 0.998 262 0% 224 13.8% 44 18.1% possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_FAA_hydrolase,superfamily_FAH HOMER2 9455 genome.wustl.edu 37 15 83523542 83523542 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_199330.1 -1 reviewed p.V180M 1.000 34 0% 33 12.1% 240 4.5% probably_damaging(0.982) tolerated(0.14) deleterious(0.676) NULL ABCA3 21 genome.wustl.edu 37 16 2354134 2354134 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001089.2 -1 reviewed p.R435* 0.020 57 0% 59 18.6% 2 0% - - - NULL MGRN1 23295 genome.wustl.edu 37 16 4702774 4702774 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_015246.2 +1 validated p.A131V 1.000 39 0% 26 23.1% 94 20.2% benign(0.187) tolerated(0.22) neutral(0.060) NULL GLYR1 84656 genome.wustl.edu 37 16 4862180 4862180 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_032569.3 -1 validated p.G397R 1.000 78 0% 73 37% 52 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAD_binding_2,superfamily_NAD(P)-binding Rossmann-fold domains ALDOA 226 genome.wustl.edu 37 16 30081306 30081306 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000034.2 +1 reviewed p.E319* 1.000 34 0% 23 47.8% 1327 36.3% - - - HMMPfam_Glycolytic,superfamily_SSF51569 KIAA0664 23277 genome.wustl.edu 37 17 2604746 2604746 + Silent SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_015229.3 -1 validated p.H233 0.970 55 0% 37 27% 29 20.6% - - - superfamily_SSF103107 SHPK 23729 genome.wustl.edu 37 17 3526786 3526786 + Splice_Site SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_013276.2 -1 reviewed e4-1 1.000 109 0% 93 11.8% 0 - - - - - ZMYND15 84225 genome.wustl.edu 37 17 4645078 4645078 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001136046.1 +1 provisional p.R265Q 0.984 91 0% 103 23.3% 1 0% benign(0.014) deleterious(0) neutral(0.445) NULL EIF5A 1984 genome.wustl.edu 37 17 7214946 7214946 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001143760.1 +1 validated p.A181V 1.000 211 0% 158 13.9% 1223 13.4% benign(0) tolerated(0.23) neutral(0.042) superfamily_Nucleic_acid_OB POLR2A 5430 genome.wustl.edu 37 17 7405387 7405387 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000937.3 +1 validated p.A840T 1.000 49 0% 45 15.6% 58 22.4% possibly_damaging(0.951) deleterious(0.04) deleterious(0.743) HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 MYH1 4619 genome.wustl.edu 37 17 10408782 10408782 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_005963.3 -1 reviewed p.D741N 1.000 259 0% 204 45.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 PEMT 10400 genome.wustl.edu 37 17 17409545 17409545 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_148172.1 -1 reviewed p.E217K 0.983 19 0% 29 37.9% 85 41.1% possibly_damaging(0.516) deleterious(0) deleterious(0.618) HMMPfam_PEMT UTP6 55813 genome.wustl.edu 37 17 30207653 30207653 + Silent SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_018428.2 -1 validated p.V302 0.018 192 0% 198 14.1% 62 16.1% - - - superfamily_SSF48452 PIGW 284098 genome.wustl.edu 37 17 34893963 34893963 + Missense_Mutation SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_178517.3 +1 validated p.K338R 0.822 232 0% 168 38.1% 3 66.6% benign(0.414) tolerated(0.45) neutral(0.146) HMMPfam_GWT1 LHX1 3975 genome.wustl.edu 37 17 35299578 35299578 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_005568.2 +1 reviewed p.R253C 1.000 22 0% 14 57.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL B4GALNT2 124872 genome.wustl.edu 37 17 47241524 47241524 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_153446.2 +1 validated p.R341W 0.002 165 0% 123 40.7% 0 - probably_damaging(0.968) deleterious(0.02) deleterious(0.793) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases C17orf28 283987 genome.wustl.edu 37 17 72948091 72948091 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_030630.2 -1 validated p.V738M 1.000 19 0% 28 21.4% 443 21.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hid1 AZI1 22994 genome.wustl.edu 37 17 79173251 79173251 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_014984.2 -1 validated p.R374 0.000 50 0% 55 18.2% 29 13.7% - - - NULL ACTG1 71 genome.wustl.edu 37 17 79478513 79478513 + Missense_Mutation SNP C C G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001614.2 -1 reviewed p.G168A 1.000 58 0% 54 40.7% 8025 45.2% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain LOC729602 729602 genome.wustl.edu 37 18 11625930 11625930 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 XM_002344140.1 -1 model p.T43M 0.001 813 0% 610 36.9% 0 - benign(0.14) tolerated(0.25) neutral(0.049) HMMPfam_NPIP DSC3 1825 genome.wustl.edu 37 18 28576839 28576839 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001941.3 -1 reviewed p.C804Y 1.000 288 0% 203 10.8% 8 0% benign(0.004) tolerated(1) - NULL ONECUT2 9480 genome.wustl.edu 37 18 55103486 55103486 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004852.2 +1 reviewed p.H180Y 1.000 130 0% 115 17.4% 0 - possibly_damaging(0.84) tolerated(0.13) deleterious(0.574) NULL LRRC8E 80131 genome.wustl.edu 37 19 7963741 7963741 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_025061.3 +1 validated p.H112Y 1.000 174 0.6% 151 16.6% 17 17.6% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) NULL ADAMTS10 81794 genome.wustl.edu 37 19 8656914 8656914 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_030957.2 -1 reviewed p.T554I 0.998 10 0% 10 60% 4 0% benign(0.054) deleterious(0) neutral(0.448) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 RDH8 50700 genome.wustl.edu 37 19 10131449 10131449 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_015725.2 +1 validated p.L169 0.998 154 0% 167 44.3% 0 - - - - HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-bd RAD23A 5886 genome.wustl.edu 37 19 13060223 13060223 + Splice_Site SNP G G C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_005053.2 +1 reviewed e7+1 1.000 27 0% 30 26.7% 2 0% - - - - CEP89 84902 genome.wustl.edu 37 19 33450819 33450819 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_032816.3 -1 validated p.Q98* 0.165 120 0% 121 39.7% 5 0% - - - NULL ZNF568 374900 genome.wustl.edu 37 19 37440885 37440885 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_198539.2 +1 validated p.P277L 0.977 127 0.8% 99 27.3% 0 - possibly_damaging(0.929) tolerated(0.15) deleterious(0.617) superfamily_C2H2 and C2HC zinc fingers WDR87 83889 genome.wustl.edu 37 19 38384371 38384371 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_031951.3 -1 provisional p.R619W 1.000 78 0% 74 16.2% 0 - probably_damaging(1) - - superfamily_WD40 repeat-like RYR1 6261 genome.wustl.edu 37 19 39018402 39018402 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000540.2 +1 reviewed p.A3601V 0.972 37 0% 62 14.5% 0 - possibly_damaging(0.948) - - NULL CYP2A7 1549 genome.wustl.edu 37 19 41386395 41386395 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000764.2 -1 reviewed p.R161Q 0.000 32 0% 32 25% 0 - benign(0.033) tolerated(0.11) neutral(0.273) HMMPfam_p450,superfamily_Cytochrome_P450 GRIK5 2901 genome.wustl.edu 37 19 42557849 42557849 + Missense_Mutation SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_002088.3 -1 reviewed p.Y392H 1.000 80 0% 88 13.6% 1 0% benign(0.001) tolerated(0.58) neutral(0.005) superfamily_Periplasmic binding protein-like I MEGF8 1954 genome.wustl.edu 37 19 42855481 42855481 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_001410.2 +1 validated p.C883 0.997 29 0% 33 21.2% 18 27.7% - - - HMMPfam_PSI,HMMSmart_PSI POLD1 5424 genome.wustl.edu 37 19 50905097 50905097 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_002691.2 +1 validated p.A127T 0.983 29 0% 49 22.4% 25 4% benign(0.066) deleterious(0) neutral(0.449) superfamily_RNaseH_fold NLRP9 338321 genome.wustl.edu 37 19 56249718 56249718 + Missense_Mutation SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_176820.2 -1 reviewed p.D8G 0.018 168 0% 139 35.3% 0 - benign(0.017) tolerated(0.38) neutral(0.018) HMMPfam_PAAD_DAPIN,superfamily_DEATH domain FOXA2 3170 genome.wustl.edu 37 20 22562865 22562865 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_021784.4 -1 reviewed p.P339S 1.000 33 0% 10 50% 8 50% benign(0.116) tolerated(0.63) neutral(0.012) NULL MYH7B 57644 genome.wustl.edu 37 20 33577713 33577713 + Silent SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_020884.3 +1 reviewed p.Y628 0.614 73 0% 76 13.2% 1 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM83D 81610 genome.wustl.edu 37 20 37580405 37580405 + Missense_Mutation SNP C C A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_030919.2 +1 validated p.L364M 1.000 137 0% 95 14.7% 16 18.7% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL PLCG1 5335 genome.wustl.edu 37 20 39795437 39795437 + Missense_Mutation SNP T T C novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_002660.2 +1 reviewed p.Y747H 1.000 138 0% 91 12.1% 106 12.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,superfamily_SSF55550 ZNF217 7764 genome.wustl.edu 37 20 52192959 52192959 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_006526.2 -1 validated p.A782T 0.002 106 0% 86 11.6% 19 21% benign(0.002) tolerated(0.5) neutral(0.010) NULL CLIC6 54102 genome.wustl.edu 37 21 36079682 36079682 + Silent SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_053277.1 +1 reviewed p.L493 1.000 329 0% 233 37.8% 0 - - - - superfamily_Thioredoxin-like LOC729057 729057 genome.wustl.edu 37 22 16123401 16123401 + RNA SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 XR_042044.2 +1 model NULL 0.973 104 0% 93 17.2% 0 - - - - - IGLV7-46 28775 genome.wustl.edu 37 22 22724318 22724318 + Missense_Mutation SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000390295 +1 known p.T72A 0.000 131 0% 133 13.5% 1 0% possibly_damaging(0.695) tolerated(0.5) neutral(0.259) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV3-16 28799 genome.wustl.edu 37 22 23089942 23089943 + Frame_Shift_Del DEL CT CT - rs5844518 byCluster;by1000genomes TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 ENST00000390311 +1 known p.C14fs 0.818:0.656 - - - - - - - - - NULL NCF4 4689 genome.wustl.edu 37 22 37273767 37273767 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_000631.4 +1 validated p.R308W 0.085 64 0% 57 42.1% 12 0% possibly_damaging(0.869) deleterious(0) deleterious(0.782) HMMPfam_PB1,HMMSmart_SM00666,superfamily_CAD PB1 domains SGSM3 27352 genome.wustl.edu 37 22 40800319 40800319 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_015705.4 +1 validated p.R76W 1.000 20 0% 25 24% 81 30.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Ypt/Rab-GAP domain of gyp1p VCX 26609 genome.wustl.edu 37 X 7811709 7811709 + Silent SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_013452.2 +1 reviewed p.P91 0.241 290 0% 163 23.9% 0 - - - - NULL FIGF 2277 genome.wustl.edu 37 X 15364359 15364359 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004469.2 -1 reviewed p.H321Y 1.000 344 0% 256 44.9% 0 - benign(0.082) tolerated(0.53) neutral(0.013) NULL KDM5C 8242 genome.wustl.edu 37 X 53231131 53231131 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_004187.3 -1 reviewed p.G591R 1.000 224 0% 210 19.5% 162 24.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00558,HMMPfam_JmjC OPHN1 4983 genome.wustl.edu 37 X 67339173 67339173 + Silent SNP A A G novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_002547.2 -1 reviewed p.D426 1.000 163 0% 116 26.7% 0 - - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP SLC16A2 6567 genome.wustl.edu 37 X 73740833 73740833 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_006517.3 +1 reviewed p.G221R 1.000 264 0% 200 39% 4 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ZCCHC5 203430 genome.wustl.edu 37 X 77913701 77913701 + Missense_Mutation SNP C C T novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_152694.2 -1 reviewed p.A73T 0.003 123 0% 88 47.7% 0 - benign(0.024) tolerated(0.36) neutral(0.021) NULL NXF2 56001 genome.wustl.edu 37 X 101572034 101572034 + Missense_Mutation SNP G G A novel TCGA-D1-A17R-01A-11D-A12J-09 TCGA-D1-A17R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b60b6447-168e-4066-93ce-9a69d187c5dd ed8bd540-b591-4d54-b1ba-1ee37a8727d3 NM_017809.3 +1 reviewed p.R53H 0.000 771 0% 647 18.5% 0 - benign(0) tolerated(0.6) neutral(0.004) NULL