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 ARID1A 8289 genome.wustl.edu 37 1 27106354 27106354 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_006015.4 +1 reviewed p.R1989* 1.000 175 0.6% 186 38.2% 46 47.8% - - - NULL S100A5 6276 genome.wustl.edu 37 1 153512666 153512666 + Missense_Mutation SNP A A T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_002962.1 -1 reviewed p.M19K 0.985 185 0% 309 18.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF47473 INSRR 3645 genome.wustl.edu 37 1 156823974 156823974 + Silent SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_014215.1 -1 validated p.R69 0.009 80 0% 120 22.5% 0 - - - - HMMPfam_Recep_L_domain,superfamily_SSF52058 OR2B11 127623 genome.wustl.edu 37 1 247614762 247614762 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001004492.1 -1 provisional p.R175W 0.050 53 0% 90 65.6% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_7tm_1,superfamily_SSF81321 HS1BP3 64342 genome.wustl.edu 37 2 20845137 20845137 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_022460.3 -1 reviewed p.S54L 0.996 63 0% 42 38.1% 14 35.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain CEP68 23177 genome.wustl.edu 37 2 65296771 65296771 + Missense_Mutation SNP A A T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_015147.2 +1 validated p.T65S 0.705 38 0% 30 30% 3 0% benign(0.001) tolerated(0.53) neutral(0.007) NULL FIGLA 344018 genome.wustl.edu 37 2 71014860 71014860 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001004311.3 -1 reviewed p.S102N 1.000 305 0% 308 34.7% 0 - possibly_damaging(0.896) deleterious(0) deleterious(0.798) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain PLCD4 84812 genome.wustl.edu 37 2 219487535 219487535 + Missense_Mutation SNP A A C novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_032726.2 +1 provisional p.K236Q 0.997 196 0% 216 35.2% 0 - benign(0.055) tolerated(0.34) neutral(0.026) HMMPfam_efhand_like,superfamily_EF-hand TRIP12 9320 genome.wustl.edu 37 2 230654405 230654406 + In_Frame_Ins INS - - ACTGCT novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_004238.1 -1 provisional p.F1464in_frame_insLAV 1.000:1.000 - - - - - - - - - NULL ATRIP 84126 genome.wustl.edu 37 3 48501272 48501272 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_130384.1 +1 reviewed p.E338* 0.997 200 0% 206 29.6% 3 0% - - - NULL CEP97 79598 genome.wustl.edu 37 3 101476586 101476586 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_024548.2 +1 provisional p.R379Q 0.998 250 0% 310 36.8% 1 100% possibly_damaging(0.775) deleterious(0.01) deleterious(0.694) NULL CCDC80 151887 genome.wustl.edu 37 3 112335607 112335607 + Silent SNP G G T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 ENST00000461431 -1 known p.H155N 0.995 430 0% 496 29.8% 3 0% - - - NULL UPK1B 7348 genome.wustl.edu 37 3 118913098 118913098 + Silent SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_006952.3 +1 reviewed p.D167 1.000 214 0% 195 30.8% 122 50% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin PIK3CA 5290 genome.wustl.edu 37 3 178936092 178936092 + Missense_Mutation SNP A A G rs121913274 byCluster TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_006218.2 +1 reviewed p.E545G 1.000 217 0% 291 75.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold EHHADH 1962 genome.wustl.edu 37 3 184922447 184922447 + Missense_Mutation SNP G G T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001966.3 -1 reviewed p.Q223K 0.000 68 0% 98 82.7% 0 - benign(0) tolerated(1) - superfamily_SSF52096 METTL14 57721 genome.wustl.edu 37 4 119626803 119626803 + Missense_Mutation SNP G G C novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_020961.2 +1 provisional p.R298P 1.000 335 0% 421 33.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MT-A70 POU4F2 5458 genome.wustl.edu 37 4 147561836 147561836 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_004575.2 +1 validated p.R369Q 1.000 43 0% 64 32.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like RXFP3 51289 genome.wustl.edu 37 5 33937169 33937169 + Missense_Mutation SNP C C A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_016568.3 +1 validated p.S108R 0.974 140 0% 142 39.4% 0 - benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_7tm_1,superfamily_SSF81321 MEGF10 84466 genome.wustl.edu 37 5 126732304 126732304 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_032446.2 +1 validated p.G165R 1.000 34 0% 28 60.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_SM00180,HMMSmart_SM00181,superfamily_EGF/Laminin PCDHA10 56139 genome.wustl.edu 37 5 140235814 140235814 + Missense_Mutation SNP C C T rs17844338 TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_018901.2 +1 reviewed p.R61C 0.675 37 0% 28 64.3% 0 - possibly_damaging(0.731) deleterious(0) deleterious(0.712) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHB10 56126 genome.wustl.edu 37 5 140572937 140572937 + Missense_Mutation SNP C C G novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_018930.3 +1 reviewed p.S271C 0.035 209 0% 195 40.5% 2 0% benign(0.149) tolerated(0.11) neutral(0.285) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CAMK2A 815 genome.wustl.edu 37 5 149630366 149630366 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_015981.3 -1 reviewed p.S234L 1.000 192 0% 178 45.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NQO2 4835 genome.wustl.edu 37 6 3019830 3019830 + Missense_Mutation SNP C C A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_000904.3 +1 validated p.Q213K 0.854 141 0% 158 38.6% 61 52.4% benign(0) tolerated(0.81) neutral(0.001) HMMPfam_Flavodoxin_2,superfamily_Flavoproteins ARHGAP18 93663 genome.wustl.edu 37 6 129937355 129937374 + Frame_Shift_Del DEL CCTACCTACTTTTTGAAAGA CCTACCTACTTTTTGAAAGA - novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 CCTACCTACTTTTTGAAAGA CCTACCTACTTTTTGAAAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_033515.2 -1 validated p.I345fs 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_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SYNE1 23345 genome.wustl.edu 37 6 152539417 152539417 + Missense_Mutation SNP A A C novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_182961.2 -1 reviewed p.I7389S 1.000 368 0% 440 40% 1 0% probably_damaging(0.961) deleterious(0.02) deleterious(0.787) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat IMPDH1 3614 genome.wustl.edu 37 7 128038592 128038592 + Missense_Mutation SNP T T A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_000883.3 -1 reviewed p.D317V 1.000 50 0% 59 33.9% 46 43.4% benign(0.01) tolerated(0.07) neutral(0.320) HMMPfam_CBS,HMMSmart_CBS,HMMPfam_IMPDH,superfamily_SSF51412,superfamily_SSF54631 FAM135B 51059 genome.wustl.edu 37 8 139163511 139163511 + Missense_Mutation SNP C C A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_015912.3 -1 validated p.Q1069H 0.915 98 0% 151 45.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DENND4C 55667 genome.wustl.edu 37 9 19336368 19336368 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_017925.4 +1 provisional p.P661L 0.994 176 0% 246 35% 0 - benign(0.057) tolerated(0.11) neutral(0.275) NULL ZNF462 58499 genome.wustl.edu 37 9 109687792 109687792 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_021224.4 +1 validated p.M533I 0.076 129 0% 87 36.8% 0 - unknown(0) deleterious(0) - superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109690479 109690479 + Missense_Mutation SNP G G T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_021224.4 +1 validated p.C1429F 1.000 44 0% 54 31.5% 0 - possibly_damaging(0.722) deleterious(0) deleterious(0.707) superfamily_beta-sandwich domain of Sec23/24 SVEP1 79987 genome.wustl.edu 37 9 113169695 113169695 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_153366.3 -1 validated p.R2729C 1.000 98 0% 85 38.8% 0 - probably_damaging(0.968) deleterious(0.05) deleterious(0.755) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain RC3H2 54542 genome.wustl.edu 37 9 125642036 125642036 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001100588.1 -1 validated p.Q404* 1.000 157 0% 182 33.5% 1 0% - - - NULL TTC16 158248 genome.wustl.edu 37 9 130489637 130489637 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_144965.1 +1 provisional p.E553K 0.000 46 0% 46 41.3% 0 - benign(0.142) tolerated(0.1) neutral(0.298) NULL PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 ENST00000371953 +1 known p.R130G 1.000 406 0% 462 72.7% 13 61.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II SFXN3 81855 genome.wustl.edu 37 10 102798430 102798430 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_030971.3 +1 validated p.V272M 1.000 967 0% 992 39.4% 5 20% benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_Mtc CPXM2 119587 genome.wustl.edu 37 10 125539687 125539687 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_198148.2 -1 validated p.R325H 1.000 447 0% 605 30.6% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases OR5A1 219982 genome.wustl.edu 37 11 59211092 59211092 + Missense_Mutation SNP G G T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001004728.1 +1 provisional p.A151S 0.012 214 0% 291 33.7% 0 - probably_damaging(0.987) tolerated(1) neutral(0.436) HMMPfam_7tm_1,superfamily_SSF81321 ABCG4 64137 genome.wustl.edu 37 11 119031662 119031662 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001142505.1 +1 reviewed p.R596H 0.000 138 0% 148 47.3% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL NLRX1 79671 genome.wustl.edu 37 11 119044726 119044726 + Silent SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_024618.2 +1 reviewed p.T256 0.008 100 1% 110 25.5% 3 0% - - - HMMPfam_NACHT DDX54 79039 genome.wustl.edu 37 12 113612727 113612727 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001111322.1 -1 reviewed p.V297M 0.997 38 0% 33 48.5% 28 35.7% benign(0.057) tolerated(0.09) neutral(0.300) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases WDR66 144406 genome.wustl.edu 37 12 122406048 122406048 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_144668.4 +1 validated p.S915L 0.994 63 0% 55 27.3% 7 57.1% possibly_damaging(0.748) tolerated(0.14) deleterious(0.524) HMMSmart_SM00320,superfamily_WD40 repeat-like VPS36 51028 genome.wustl.edu 37 13 53001185 53001185 + Missense_Mutation SNP T T G novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_016075.2 -1 validated p.E193A 1.000 671 0% 726 37.9% 6 33.3% benign(0.001) tolerated(1) - HMMPfam_EAP30 MAX 4149 genome.wustl.edu 37 14 65544747 65544747 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_002382.3 -1 reviewed p.R60Q 1.000 313 0% 349 37.2% 26 34.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain SMOC1 64093 genome.wustl.edu 37 14 70459136 70459136 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001034852.1 +1 validated p.D177N 1.000 338 0% 443 35.7% 0 - possibly_damaging(0.8) tolerated(0.52) neutral(0.309) NULL AMN 81693 genome.wustl.edu 37 14 103396967 103396968 + Frame_Shift_Del DEL CA CA - novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_030943.3 +1 reviewed p.H438fs 0.001:0.001 - - - - - - - - - NULL RYR3 6263 genome.wustl.edu 37 15 34060896 34060896 + Missense_Mutation SNP A A C novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001036.3 +1 validated p.I2915L 1.000 368 0% 418 38.3% 0 - benign(0.019) - - NULL RPL3L 6123 genome.wustl.edu 37 16 1996980 1996980 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_005061.2 -1 reviewed p.G270R 1.000 35 0% 28 25% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Ribosomal_L3,superfamily_Translat_factor ABCA3 21 genome.wustl.edu 37 16 2328319 2328319 + Missense_Mutation SNP G G T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001089.2 -1 reviewed p.S1563Y 0.957 55 0% 37 10.8% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC728888 728888 genome.wustl.edu 37 16 29394565 29394565 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 XM_002343430.1 -1 model p.R563H 0.000 34 0% 43 51.2% 3 66.6% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) HMMPfam_NPIP TNFAIP1 7126 genome.wustl.edu 37 17 26668329 26668329 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_021137.4 +1 reviewed p.R148W 0.984 103 0% 101 35.6% 13 46.1% possibly_damaging(0.952) tolerated(0.11) deleterious(0.667) NULL MYO19 80179 genome.wustl.edu 37 17 34852234 34852234 + Missense_Mutation SNP T T A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_025109.5 -1 validated p.H725L 1.000 172 0% 172 39% 61 42.6% possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL OSBPL7 114881 genome.wustl.edu 37 17 45890716 45890716 + Silent SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_145798.2 -1 reviewed p.A551 0.051 83 0% 88 13.6% 11 9% - - - HMMPfam_Oxysterol_BP EPX 8288 genome.wustl.edu 37 17 56271331 56271331 + Missense_Mutation SNP C C G novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_000502.4 +1 reviewed p.P158A 0.999 30 0% 33 51.5% 0 - probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMPfam_An_peroxidase,superfamily_Peroxidase_super CEP192 55125 genome.wustl.edu 37 18 13056337 13056337 + Missense_Mutation SNP C C G novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_032142.3 +1 validated p.L654V 0.269 98 0% 112 41.1% 2 100% benign(0.087) deleterious(0) neutral(0.451) NULL ASXL3 80816 genome.wustl.edu 37 18 31326388 31326388 + Silent SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_030632.1 +1 provisional p.N2192 0.833 120 0% 136 38.2% 0 - - - - NULL C18orf54 162681 genome.wustl.edu 37 18 51888167 51888167 + Silent SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_173529.4 +1 validated p.H146 0.015 165 0% 205 31.2% 0 - - - - NULL LRG1 116844 genome.wustl.edu 37 19 4538014 4538014 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_052972.2 -1 validated p.R328C 0.208 25 0% 24 29.2% 59 45.7% probably_damaging(0.971) deleterious(0.02) deleterious(0.796) HMMSmart_LRRCT,superfamily_SSF52058 TYK2 7297 genome.wustl.edu 37 19 10475379 10475379 + Silent SNP C C A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_003331.4 -1 reviewed p.L426 1.000 15 0% 18 44.4% 14 42.8% - - - NULL SLC27A1 376497 genome.wustl.edu 37 19 17599717 17599717 + Silent SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_198580.1 +1 provisional p.L285 0.833 38 0% 32 50% 12 58.3% - - - HMMPfam_AMP-binding,superfamily_SSF56801 LSR 51599 genome.wustl.edu 37 19 35758278 35758279 + In_Frame_Ins INS - - GGC novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_205834.2 +1 validated p.520in_frame_insR 0.995:0.996 - - - - - - - - - NULL SYMPK 8189 genome.wustl.edu 37 19 46333346 46333346 + Missense_Mutation SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_004819.2 -1 reviewed p.A572V 1.000 14 0% 25 20% 34 44.1% possibly_damaging(0.604) deleterious(0.01) deleterious(0.615) superfamily_ARM repeat PRMT1 3276 genome.wustl.edu 37 19 50189361 50189361 + Missense_Mutation SNP C C G novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_001536.3 +1 validated p.I257M 1.000 93 0% 105 36.2% 389 40.3% benign(0.023) tolerated(0.08) neutral(0.301) superfamily_S-adenosyl-L-methionine-dependent methyltransferases RBM39 9584 genome.wustl.edu 37 20 34297181 34297182 + Frame_Shift_Ins INS - - T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_184234.1 -1 reviewed p.I397fs 1.000:1.000 - - - - - - - - - NULL PREX1 57580 genome.wustl.edu 37 20 47273645 47273645 + Missense_Mutation SNP A A G novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_020820.3 -1 reviewed p.S686P 0.953 66 0% 65 40% 4 0% benign(0.068) tolerated(0.12) neutral(0.265) HMMSmart_SM00228,superfamily_PDZ domain-like SALL4 57167 genome.wustl.edu 37 20 50407891 50407891 + Silent SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_020436.3 -1 reviewed p.A377 0.003 104 0% 84 40.5% 1 0% - - - NULL EIF3D 8664 genome.wustl.edu 37 22 36914916 36914916 + Silent SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_003753.3 -1 reviewed p.I251 1.000 149 0% 186 39.2% 143 38.4% - - - HMMPfam_eIF-3_zeta FAM9B 171483 genome.wustl.edu 37 X 9001030 9001030 + Missense_Mutation SNP A A G novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 ENST00000362066 -1 known p.F45L 0.030 299 0% 253 46.2% 0 - benign(0.009) tolerated(0.61) neutral(0.005) NULL BEND2 139105 genome.wustl.edu 37 X 18189184 18189184 + Missense_Mutation SNP C C G novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_153346.4 -1 validated p.V708L 0.350 397 0% 365 32.3% 0 - possibly_damaging(0.444) deleterious(0) deleterious(0.590) HMMPfam_BEN EFNB1 1947 genome.wustl.edu 37 X 68060379 68060379 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_004429.4 +1 reviewed p.T308I 1.000 24 0% 39 38.5% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM70A 55026 genome.wustl.edu 37 X 119445139 119445139 + Missense_Mutation SNP C C T novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 NM_017938.3 -1 validated p.R9Q 1.000 51 0% 47 34% 0 - benign(0.126) tolerated(0.2) neutral(0.060) NULL HCFC1 3054 genome.wustl.edu 37 X 153219157 153219157 + Silent SNP G G A novel TCGA-D1-A17L-01A-11D-A12J-09 TCGA-D1-A17L-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17dc148a-83b6-4b12-a68f-3bfc5e2e5d04 420fd141-f567-403a-b7b6-838c9937e2d4 ENST00000444191 -1 known p.H41Y 0.157 58 0% 52 40.4% 21 61.9% - - - NULL