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 MEGF6 1953 genome.wustl.edu 37 1 3440718 3440718 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001409.3 -1 validated p.R192W 1.000 31 0% 50 42% 1 100% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin NPHP4 261734 genome.wustl.edu 37 1 5987831 5987831 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_015102.2 -1 reviewed p.S440L 0.141 38 0% 66 15.2% 1 0% benign(0.005) deleterious(0.04) neutral(0.349) NULL VPS13D 55187 genome.wustl.edu 37 1 12401897 12401897 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_015378.2 +1 reviewed p.T2896M 1.000 83 0% 121 23.1% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARID1A 8289 genome.wustl.edu 37 1 27106407 27106409 + In_Frame_Del DEL GCT GCT - novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_006015.4 +1 reviewed p.L2009in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ACP6 51205 genome.wustl.edu 37 1 147120131 147120131 + Missense_Mutation SNP G G C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_016361.3 -1 validated p.P354A 0.998 189 0% 264 33.7% 59 40.6% probably_damaging(0.998) tolerated(0.38) deleterious(0.492) HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like CFH 3075 genome.wustl.edu 37 1 196712659 196712660 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_000186.3 +1 reviewed p.R1072fs 0.053:0.037 - - - - - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ZC3H11A 9877 genome.wustl.edu 37 1 203816652 203816652 + Silent SNP T T C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_014827.4 +1 validated p.G461 0.002 68 0% 91 28.6% 44 38.6% - - - NULL EPRS 2058 genome.wustl.edu 37 1 220178605 220178605 + Missense_Mutation SNP G G C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_004446.2 -1 reviewed p.P683R 1.000 195 0% 320 28.7% 29 37.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ribosomal_L25rel DEGS1 8560 genome.wustl.edu 37 1 224377954 224377954 + Frame_Shift_Del DEL C C - novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_003676.2 +1 reviewed p.F254fs 1.000 - - - - - - - - - HMMPfam_FA_desaturase MYCN 4613 genome.wustl.edu 37 2 16082317 16082317 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_005378.4 +1 reviewed p.P44L 1.000 19 0% 19 42.1% 6 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Myc_N ERCC3 2071 genome.wustl.edu 37 2 128051272 128051272 + Silent SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_000122.1 -1 reviewed p.R17 0.995 94 0% 161 16.1% 13 15.3% - - - NULL PLEKHB2 55041 genome.wustl.edu 37 2 132110679 132110679 + Missense_Mutation SNP C C A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 ENST00000303908 +1 known p.S170R 1.000 232 0% 379 27.7% 0 - unknown(0) - - NULL LOC440917 440917 genome.wustl.edu 37 2 139045795 139045795 + RNA SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 XR_041289.2 -1 model NULL 0.999 167 0% 239 17.6% 0 - - - - - SCN2A 6326 genome.wustl.edu 37 2 166166869 166166869 + Missense_Mutation SNP T T C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001040142.1 +1 reviewed p.V245A 1.000 287 0% 314 32.8% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels FASTKD1 79675 genome.wustl.edu 37 2 170416980 170416980 + Missense_Mutation SNP C C A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_024622.3 -1 validated p.M296I 1.000 97 0% 180 32.2% 4 75% benign(0.073) tolerated(0.12) neutral(0.266) NULL BOLL 66037 genome.wustl.edu 37 2 198607850 198607850 + Missense_Mutation SNP G G T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_197970.2 -1 validated p.H267N 1.000 108 0% 184 32.1% 0 - possibly_damaging(0.473) tolerated(0.39) neutral(0.172) NULL KIF1A 547 genome.wustl.edu 37 2 241712573 241712573 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_004321.4 -1 reviewed p.R380W 1.000 65 0% 85 31.8% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ARL8B 55207 genome.wustl.edu 37 3 5164271 5164271 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_018184.2 +1 validated p.A41T 1.000 28 0% 23 26.1% 49 48.9% benign(0.015) tolerated(0.11) neutral(0.272) HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases FGD5 152273 genome.wustl.edu 37 3 14861538 14861538 + Silent SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_152536.3 +1 validated p.S320 0.000 44 0% 64 17.2% 7 14.2% - - - NULL WDR49 151790 genome.wustl.edu 37 3 167240187 167240187 + Missense_Mutation SNP G G T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_178824.3 -1 provisional p.S545Y 0.018 254 0% 271 28.8% 4 50% benign(0.261) tolerated(0.06) neutral(0.350) superfamily_WD40 repeat-like ACAP2 23527 genome.wustl.edu 37 3 195027273 195027290 + In_Frame_Del DEL AGCAATACTGGTCTGAAC AGCAATACTGGTCTGAAC - novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 AGCAATACTGGTCTGAAC AGCAATACTGGTCTGAAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_012287.5 -1 validated p.VQTSIA356in_frame_del 1.000:1.000:1.000:0.984:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KCTD8 386617 genome.wustl.edu 37 4 44449696 44449696 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_198353.2 -1 validated p.R282H 1.000 19 0% 23 47.8% 1 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL GSTCD 79807 genome.wustl.edu 37 4 106763287 106763287 + Silent SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001031720.2 +1 validated p.L587 1.000 263 0% 369 30.6% 6 16.6% - - - NULL ODZ3 55714 genome.wustl.edu 37 4 183245285 183245285 + Missense_Mutation SNP C C A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001080477.1 +1 provisional p.Q38K 1.000 132 0% 236 11.9% 1 0% possibly_damaging(0.891) deleterious(0.03) deleterious(0.715) HMMPfam_Ten_N DNAH5 1767 genome.wustl.edu 37 5 13786343 13786343 + Missense_Mutation SNP C C T rs148539877 by1000genomes TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001369.2 -1 reviewed p.R2922H 1.000 120 0% 153 36.6% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52540 SKP2 6502 genome.wustl.edu 37 5 36171752 36171752 + Missense_Mutation SNP A A G novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_005983.2 +1 reviewed p.H273R 0.995 153 0.7% 180 30.6% 15 20% probably_damaging(1) tolerated(0.43) deleterious(0.513) HMMSmart_SM00367,superfamily_RNI-like PIK3R1 5295 genome.wustl.edu 37 5 67591104 67591104 + Frame_Shift_Del DEL T T - novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_181523.1 +1 reviewed p.K567fs 1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591107 67591117 + Frame_Shift_Del DEL AACCAGACCTT AACCAGACCTT - novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 AACCAGACCTT AACCAGACCTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_181523.1 +1 reviewed p.K567fs 1.000:0.892:1.000:1.000:0.152:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL PCDHA11 56138 genome.wustl.edu 37 5 140250334 140250334 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_018902.3 +1 reviewed p.T549M 0.994 46 0% 73 41.1% 0 - probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH1 5097 genome.wustl.edu 37 5 141243705 141243705 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_032420.2 -1 reviewed p.R731C 0.460 103 0% 178 31.5% 53 47.1% possibly_damaging(0.771) tolerated(0.2) neutral(0.335) HMMPfam_Cadherin,superfamily_Cadherin EFCAB9 285588 genome.wustl.edu 37 5 171630289 171630289 + Silent SNP A A G novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 ENST00000398186 +1 known p.T178 0.000 202 0% 226 38.5% 0 - - - - NULL SLC17A3 10786 genome.wustl.edu 37 6 25868565 25868565 + Silent SNP T T C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001098486.1 -1 validated p.A17 0.224 420 0.2% 318 30.8% 0 - - - - superfamily_MFS_gen_substrate_transporter PKHD1 5314 genome.wustl.edu 37 6 51900484 51900484 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_138694.3 -1 reviewed p.E1045K 1.000 64 0% 97 17.5% 0 - benign(0.418) tolerated(0.37) neutral(0.154) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains COL19A1 1310 genome.wustl.edu 37 6 70875842 70875842 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001858.4 +1 reviewed p.G804R 0.998 82 0% 105 36.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Collagen CGA 1081 genome.wustl.edu 37 6 87795511 87795511 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_000735.2 -1 reviewed p.A105V 0.464 151 0.7% 254 28% 0 - benign(0.019) deleterious(0) neutral(0.446) HMMPfam_Hormone_6,HMMSmart_SM00067,PatternScan_GLYCO_HORMONE_ALPHA_2,superfamily_Cystine-knot cytokines SAMD3 154075 genome.wustl.edu 37 6 130466485 130466485 + Missense_Mutation SNP C C A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001017373.2 -1 validated p.Q426H 1.000 135 0% 172 33.7% 2 50% benign(0.006) deleterious(0.05) neutral(0.345) NULL NOD1 10392 genome.wustl.edu 37 7 30475652 30475652 + Silent SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_006092.2 -1 reviewed p.A861 0.000 107 0% 200 15.5% 7 0% - - - superfamily_SSF52047 EGFR 1956 genome.wustl.edu 37 7 55266458 55266458 + Missense_Mutation SNP G G C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_005228.3 +1 reviewed p.G917A 0.998 124 0% 197 33% 12 33.3% benign(0.414) deleterious(0.05) deleterious(0.479) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) RUNDC3B 154661 genome.wustl.edu 37 7 87445521 87445521 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_138290.2 +1 validated p.P407L 1.000 193 0% 250 28.8% 1 0% possibly_damaging(0.452) tolerated(0.27) neutral(0.181) NULL MUC3A 4584 genome.wustl.edu 37 7 100550032 100550033 + In_Frame_Ins INS - - CCT rs111723000 TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 XM_001725354.2 +1 model p.208in_frame_insS 0.165:0.003 - - - - - - - - - NULL SNTG1 54212 genome.wustl.edu 37 8 51362240 51362240 + Missense_Mutation SNP C C A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_018967.2 +1 reviewed p.H78N 1.000 260 0% 366 31.7% 0 - possibly_damaging(0.473) tolerated(0.1) neutral(0.443) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like RIMS2 9699 genome.wustl.edu 37 8 105261015 105261015 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001100117.1 +1 validated p.R1188H 1.000 156 0% 185 30.3% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CSMD3 114788 genome.wustl.edu 37 8 113694830 113694830 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_198123.1 -1 validated p.P840S 1.000 165 0% 242 30.2% 0 - benign(0.001) deleterious(0.05) neutral(0.345) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SMC5 23137 genome.wustl.edu 37 9 72929751 72929751 + Nonsense_Mutation SNP A A T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_015110.3 +1 validated p.K558* 0.856 143 0% 179 30.2% 4 0% - - - HMMPfam_SMC_N,superfamily_SSF52540 TBC1D2 55357 genome.wustl.edu 37 9 100983173 100983173 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_018421.3 -1 validated p.R439H 0.000 92 0% 142 30.3% 28 50% benign(0.068) tolerated(0.11) neutral(0.276) NULL SEC16A 9919 genome.wustl.edu 37 9 139357961 139357961 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_014866.1 -1 validated p.A1534V 1.000 174 0% 278 31.7% 20 0% possibly_damaging(0.892) deleterious(0.01) deleterious(0.757) NULL PTEN 5728 genome.wustl.edu 37 10 89685305 89685305 + Missense_Mutation SNP T T C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 ENST00000371953 +1 known p.I67T 1.000 191 0% 187 38% 49 51% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 ENST00000371953 +1 known p.R130G 1.000 238 0% 313 35.8% 47 34% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 ENST00000371953 +1 known p.R130Q 1.000 235 0% 307 33.2% 48 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II CTBP2 1488 genome.wustl.edu 37 10 126715846 126715846 + Silent SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_022802.2 -1 reviewed p.A161 0.000 16 0% 36 50% 0 - - - - NULL OR5P3 120066 genome.wustl.edu 37 11 7847289 7847289 + Silent SNP G G T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_153445.1 -1 provisional p.V77 0.629 94 1.1% 152 35.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 DPP3 10072 genome.wustl.edu 37 11 66249729 66249729 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_005700.3 +1 reviewed p.R20C 0.978 26 0% 62 37.1% 42 40.4% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL PRDM10 56980 genome.wustl.edu 37 11 129772222 129772222 + Missense_Mutation SNP T T C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_020228.2 -1 reviewed p.I1157V 1.000 355 0.3% 540 28% 3 66.6% benign(0) deleterious(0) neutral(0.445) NULL KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 byCluster TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_033360.2 -1 reviewed p.G12V 1.000 212 0% 341 30.2% 6 33.3% benign(0.048) deleterious(0) neutral(0.448) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RARG 5916 genome.wustl.edu 37 12 53609209 53609209 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_000966.4 -1 validated p.R115C 1.000 116 0% 199 12.6% 32 21.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) AGAP2 116986 genome.wustl.edu 37 12 58129157 58129157 + Missense_Mutation SNP G G T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001122772.1 -1 validated p.R408S 1.000 71 0% 104 24% 2 0% possibly_damaging(0.929) deleterious(0.01) deleterious(0.782) HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Miro,superfamily_P-loop containing nucleoside triphosphate hydrolases CPSF6 11052 genome.wustl.edu 37 12 69656295 69656306 + In_Frame_Del DEL CGTGACCGAGAG CGTGACCGAGAG - novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 CGTGACCGAGAG CGTGACCGAGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_007007.2 +1 validated p.ERDR541in_frame_del 1.000:1.000:0.028:0.998:1.000:1.000:1.000:1.000:0.989:1.000:0.998:0.033 - - - - - - - - - NULL STAB2 55576 genome.wustl.edu 37 12 104015859 104015859 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_017564.9 +1 reviewed p.D153N 0.981 276 0% 421 30.6% 0 - possibly_damaging(0.608) tolerated(0.17) neutral(0.269) NULL POLR3B 55703 genome.wustl.edu 37 12 106890645 106890645 + Missense_Mutation SNP G G T rs117293015 by1000genomes TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_018082.5 +1 validated p.R978L 1.000 191 0% 218 33.9% 13 7.6% benign(0.124) tolerated(0.12) neutral(0.271) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase LPAR6 10161 genome.wustl.edu 37 13 48986290 48986290 + Missense_Mutation SNP C C G novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_005767.5 -1 reviewed p.K90N 1.000 91 0% 122 35.2% 27 37% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_SSF81321 CHD8 57680 genome.wustl.edu 37 14 21860732 21860732 + Silent SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_020920.3 -1 reviewed p.A1956 0.998 124 0% 186 11.8% 53 11.3% - - - NULL NRXN3 9369 genome.wustl.edu 37 14 79933651 79933651 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_004796.4 +1 reviewed p.R744H 1.000 75 0% 96 25% 4 75% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_LamG,superfamily_ConA_like_lec_gl KCNK10 54207 genome.wustl.edu 37 14 88654430 88654430 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_138317.2 -1 reviewed p.R298W 1.000 153 0% 247 35.2% 0 - probably_damaging(0.965) deleterious(0.04) deleterious(0.756) HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels BRF1 2972 genome.wustl.edu 37 14 105684104 105684104 + Missense_Mutation SNP G G T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001519.2 -1 reviewed p.Q517K 1.000 43 0% 75 22.7% 22 45.4% benign(0.01) tolerated(0.94) neutral(0.001) HMMPfam_BRF1 SRRM2 23524 genome.wustl.edu 37 16 2818850 2818850 + Silent SNP T T C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 ENST00000382300 +1 known p.S123 1.000 11 0% 15 46.7% 29 34.4% - - - NULL ABCC6 368 genome.wustl.edu 37 16 16257016 16257016 + Missense_Mutation SNP G G A rs63749794 TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001171.5 -1 reviewed p.R1114C 1.000 49 0% 58 41.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain RBL2 5934 genome.wustl.edu 37 16 53524069 53524069 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_005611.3 +1 validated p.R1093C 0.996 85 0% 173 19.1% 33 24.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRPF8 10594 genome.wustl.edu 37 17 1561557 1561557 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_006445.3 -1 reviewed p.R1832H 1.000 134 0% 250 35.6% 105 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SDK2 54549 genome.wustl.edu 37 17 71443828 71443828 + Missense_Mutation SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001144952.1 -1 provisional p.R180H 1.000 135 0% 181 22.7% 0 - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LRRC30 339291 genome.wustl.edu 37 18 7231739 7231739 + Silent SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001105581.1 +1 provisional p.I201 0.971 71 0% 73 41.1% 0 - - - - superfamily_SSF52058 TYK2 7297 genome.wustl.edu 37 19 10464803 10464803 + Silent SNP G G C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_003331.4 -1 reviewed p.R941 0.000 40 0% 65 30.8% 53 37.7% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HNRNPL 3191 genome.wustl.edu 37 19 39338057 39338057 + Silent SNP C C T novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001533.2 -1 reviewed p.P95 0.749 99 0% 167 24.6% 89 33.7% - - - NULL CEP250 11190 genome.wustl.edu 37 20 34067178 34067178 + Silent SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_007186.3 +1 reviewed p.A739 0.277 52 0% 83 31.3% 9 66.6% - - - NULL SLC17A9 63910 genome.wustl.edu 37 20 61594022 61594022 + Missense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_022082.3 +1 validated p.G182S 1.000 109 0% 181 30.9% 0 - benign(0.016) deleterious(0.01) neutral(0.406) HMMPfam_MFS_1,superfamily_MFS general substrate transporter ADAMTS5 11096 genome.wustl.edu 37 21 28327086 28327086 + Silent SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_007038.3 -1 reviewed p.H403 0.529 91 0% 109 37.6% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" SCAF4 57466 genome.wustl.edu 37 21 33044421 33044421 + Missense_Mutation SNP T T C novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_020706.2 -1 reviewed p.H912R 0.807 58 0% 86 31.4% 21 38% unknown(0) deleterious(0.05) - NULL ENSG00000225677 0 genome.wustl.edu 37 22 50655925 50655925 + Missense_Mutation SNP C C G novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 ENST00000450166 +1 known p.S21C 0.975 8 0.000 9 0.444 36 41.6% - - - NULL ENSG00000210082 0 genome.wustl.edu 37 MT 3107 3107 + RNA DEL A A - novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 ENST00000387347 +1 known NULL NULL - - - - - - - - - - ZMYM3 9203 genome.wustl.edu 37 X 70468156 70468156 + Missense_Mutation SNP C C G novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_005096.3 -1 reviewed p.V611L 1.000 86 0% 140 30.7% 6 0% benign(0.063) tolerated(0.15) neutral(0.245) HMMPfam_zf-FCS,HMMSmart_SM00746 RBMXL3 139804 genome.wustl.edu 37 X 114425588 114425588 + Missense_Mutation SNP C C A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_001145346.1 +1 validated p.D528E 0.997 38 0% 58 29.3% 0 - possibly_damaging(0.507) deleterious(0) deleterious(0.614) NULL MAGEC1 9947 genome.wustl.edu 37 X 140993431 140993431 + Missense_Mutation SNP C C A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_005462.4 +1 reviewed p.Q81K 0.990 128 0% 148 33.1% 0 - unknown(0) deleterious(0.01) - NULL MAGEA3 4102 genome.wustl.edu 37 X 151935794 151935794 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15W-01A-11D-A122-09 TCGA-D1-A15W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2198f64-9c6b-4ad8-95a3-b16fac3e9ffa af03d1bc-4b0b-45b5-b6b3-039d0321e792 NM_005362.3 -1 reviewed p.R125* 0.001 259 0% 326 36.2% 0 - - - - HMMPfam_MAGE