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 IFI44L 10964 genome.wustl.edu 37 1 79095582 79095582 + Silent SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_006820.2 +1 validated p.I235 0.004 182 0% 174 28.7% 11 9% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SYCP1 6847 genome.wustl.edu 37 1 115417186 115417189 + Splice_Site DEL GTGA GTGA - novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_003176.2 +1 validated e8+1 1.000:1.000 - - - - - - - - - - CERS2 29956 genome.wustl.edu 37 1 150939049 150939049 + Missense_Mutation SNP T T G novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_022075.3 -1 reviewed p.Y302S 1.000 161 0% 144 29.9% 98 33.6% possibly_damaging(0.887) deleterious(0) deleterious(0.791) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 FCRLB 127943 genome.wustl.edu 37 1 161695631 161695631 + Missense_Mutation SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_001002901.2 +1 validated p.P110S 1.000 124 0% 116 26.7% 0 - benign(0.322) tolerated(0.39) neutral(0.117) HMMSmart_SM00409,superfamily_Immunoglobulin UCHL5 51377 genome.wustl.edu 37 1 192992090 192992090 + Missense_Mutation SNP A A G novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_015984.2 -1 validated p.I271T 1.000 164 0% 261 33.3% 35 25.7% possibly_damaging(0.897) deleterious(0) deleterious(0.798) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232581277 232581277 + Silent SNP C C T rs140868197 by1000genomes TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_020808.3 -1 validated p.T1117 0.913 78 0% 75 20% 5 0% - - - NULL WDR33 55339 genome.wustl.edu 37 2 128479537 128479537 + Missense_Mutation SNP A A C novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_018383.3 -1 reviewed p.I515S 1.000 99 0% 158 29.1% 7 42.8% unknown(0) deleterious(0) - superfamily_WD40_like KIAA1715 80856 genome.wustl.edu 37 2 176829288 176829288 + Nonsense_Mutation SNP G G T rs181413679 by1000genomes TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_030650.1 -1 validated p.Y129* 0.962 145 0% 257 26.8% 5 0% - - - NULL SPHKAP 80309 genome.wustl.edu 37 2 228884216 228884216 + Missense_Mutation SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_001142644.1 -1 validated p.V452I 1.000 73 0% 88 33% 0 - benign(0) tolerated(1) - NULL GRM2 2912 genome.wustl.edu 37 3 51746689 51746689 + Silent SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_000839.3 +1 reviewed p.G217 0.001 16 0% 137 93.4% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I FRMD4B 23150 genome.wustl.edu 37 3 69242895 69242895 + Missense_Mutation SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_015123.1 -1 validated p.D540N 1.000 59 0% 113 32.7% 9 33.3% benign(0.03) tolerated(0.38) neutral(0.019) NULL PIK3CA 5290 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_006218.2 +1 reviewed p.R88Q 1.000 184 0% 334 64.4% 5 100% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B FXR1 8087 genome.wustl.edu 37 3 180687964 180687964 + Missense_Mutation SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_005087.2 +1 reviewed p.S474N 1.000 134 0% 141 31.9% 148 41.8% benign(0.007) tolerated(0.11) neutral(0.272) NULL LOC441016 441016 genome.wustl.edu 37 4 54442113 54442113 + Silent SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 XM_496693.4 +1 model p.P127 0.002 29 0% 32 46.9% 0 - - - - HMMPfam_HCaRG FRAS1 80144 genome.wustl.edu 37 4 79202577 79202577 + Missense_Mutation SNP A A G novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_025074.6 +1 reviewed p.K366R 0.994 50 0% 59 27.1% 0 - probably_damaging(0.998) tolerated(0.88) deleterious(0.474) HMMSmart_SM00214 C9 735 genome.wustl.edu 37 5 39311409 39311411 + In_Frame_Del DEL ACA ACA - novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_001737.3 -1 reviewed p.V314in_frame_del 0.002:0.000:0.000 - - - - - - - - - HMMPfam_MACPF,HMMSmart_MACPF DHX29 54505 genome.wustl.edu 37 5 54579264 54579264 + Missense_Mutation SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_019030.2 -1 validated p.R578W 0.979 349 0.3% 416 46.6% 9 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 PRL 5617 genome.wustl.edu 37 6 22287819 22287819 + Missense_Mutation SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_000948.4 -1 validated p.H166Y 1.000 71 0% 107 32.7% 1 0% benign(0.001) tolerated(0.55) neutral(0.007) HMMPfam_Hormone_1,superfamily_4-helical cytokines FILIP1 27145 genome.wustl.edu 37 6 76024552 76024552 + Missense_Mutation SNP T T A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_015687.2 -1 validated p.R332S 0.999 242 0.4% 671 21.8% 1 0% benign(0.043) tolerated(0.15) neutral(0.243) HMMPfam_CortBP2 PLEKHG1 57480 genome.wustl.edu 37 6 151161857 151161857 + Missense_Mutation SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_001029884.1 +1 provisional p.R1328H 0.406 128 0.8% 272 30.5% 9 55.5% benign(0.012) deleterious(0.05) neutral(0.346) NULL CHRNA2 1135 genome.wustl.edu 37 8 27327458 27327458 + Silent SNP T T C novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_000742.3 -1 reviewed p.G38 0.004 12 0% 22 40.9% 0 - - - - NULL TRHR 7201 genome.wustl.edu 37 8 110100248 110100248 + Silent SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_003301.4 +1 reviewed p.S169 0.179 187 0% 360 30.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CSMD3 114788 genome.wustl.edu 37 8 113240997 113240997 + Missense_Mutation SNP A A G novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_198123.1 -1 validated p.L3651P 1.000 152 0% 242 29.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CYP11B1 1584 genome.wustl.edu 37 8 143957666 143957666 + Silent SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_000497.3 -1 reviewed p.S315 0.943 28 0% 42 50% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 COL5A1 1289 genome.wustl.edu 37 9 137716565 137716565 + Silent SNP C C T rs190912679 by1000genomes TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 ENST00000371820 +1 known p.R26W 0.908 25 0% 28 50% 46 2.1% - - - NULL CLP1 10978 genome.wustl.edu 37 11 57428510 57428510 + Missense_Mutation SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_006831.2 +1 validated p.R294W 1.000 152 0.7% 170 30.6% 29 48.2% benign(0.279) deleterious(0.05) neutral(0.375) HMMPfam_Clp1 TBX10 347853 genome.wustl.edu 37 11 67401752 67401752 + Missense_Mutation SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_005995.3 -1 provisional p.D153N 0.999 8 0.000 16 0.375 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2 FAT3 120114 genome.wustl.edu 37 11 92086748 92086748 + Silent SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_001008781.2 +1 validated p.S490 0.001 128 0% 163 28.8% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like UBE4A 9354 genome.wustl.edu 37 11 118239433 118239433 + Missense_Mutation SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_004788.2 +1 reviewed p.R70H 1.000 469 0% 567 30.7% 3 0% possibly_damaging(0.667) tolerated(0.05) deleterious(0.581) NULL OPCML 4978 genome.wustl.edu 37 11 132527171 132527171 + Missense_Mutation SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_002545.3 -1 reviewed p.R71C 1.000 49 0% 79 29.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SPTB 6710 genome.wustl.edu 37 14 65241939 65241939 + Silent SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_001024858.2 -1 reviewed p.D1582 0.006 26 0% 38 26.3% 1 100% - - - HMMPfam_Spectrin,superfamily_Spectrin NPRL3 8131 genome.wustl.edu 37 16 138772 138773 + Frame_Shift_Ins INS - - G rs75244038 byCluster;by1000genomes TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 ENST00000399953 -1 known p.S489fs 1.000:1.000 - - - - - - - - - HMMPfam_UPF0171 LOC654780 654780 genome.wustl.edu 37 16 84228613 84228613 + RNA DEL T T - rs140074913 byCluster;by1000genomes TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 XR_040612.2 -1 model NULL 0.005 - - - - - - - - - - ATP1B2 482 genome.wustl.edu 37 17 7557429 7557429 + Missense_Mutation SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_001678.3 +1 reviewed p.E136K 1.000 454 0% 268 48.5% 5 0% benign(0.054) tolerated(0.91) neutral(0.004) HMMPfam_Na_K-ATPase TP53 7157 genome.wustl.edu 37 17 7577153 7577153 + Missense_Mutation SNP C C A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_000546.4 -1 reviewed p.G262V 1.000 79 0% 55 36.4% 48 75% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 NUFIP2 57532 genome.wustl.edu 37 17 27613774 27613774 + Missense_Mutation SNP T T C novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_020772.2 -1 validated p.N413S 0.081 99 0% 117 31.6% 18 38.8% benign(0) tolerated(1) - NULL STAT3 6774 genome.wustl.edu 37 17 40489799 40489799 + Silent SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_139276.2 -1 reviewed p.A209 0.017 70 0% 92 21.7% 39 38.4% - - - HMMPfam_STAT_alpha,superfamily_STAT DNAH17 8632 genome.wustl.edu 37 17 76475711 76475711 + Frame_Shift_Del DEL G G - novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 ENST00000389840 -1 known p.H2572fs 1.000 - - - - - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CEP192 55125 genome.wustl.edu 37 18 13056360 13056360 + Silent SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_032142.3 +1 validated p.S661 0.000 82 0% 170 37.1% 3 66.6% - - - NULL LOC646359 646359 genome.wustl.edu 37 18 14378543 14378543 + Nonsense_Mutation SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 XM_929288.3 -1 model p.R74* 0.005 20 0% 38 47.4% 0 - - - - HMMPfam_TRF,superfamily_Telomeric repeat binding factor (TRF) dimerisation domain ZNF343 79175 genome.wustl.edu 37 20 2464696 2464696 + Missense_Mutation SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_024325.4 -1 validated p.R304Q 0.000 189 0% 154 45.5% 2 50% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers EMILIN3 90187 genome.wustl.edu 37 20 39991058 39991058 + Missense_Mutation SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_052846.1 -1 validated p.C384Y 1.000 12 0% 17 47.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000210082 0 genome.wustl.edu 37 MT 2697 2697 + RNA SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 ENST00000387347 +1 known NULL NULL 66 0% 61 90.2% 2668 27.6% - - - - ENSG00000198888 0 genome.wustl.edu 37 MT 3643 3643 + Missense_Mutation SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 ENST00000361390 +1 known p.V113I NULL 101 0% 106 88.7% 8036 90.5% possibly_damaging(0.615) deleterious(0) deleterious(0.658) HMMPfam_NADHdh SMC1A 8243 genome.wustl.edu 37 X 53440264 53440264 + Missense_Mutation SNP G G A novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_006306.2 -1 reviewed p.A178V 1.000 148 0% 113 51.3% 7 42.8% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_SMC_N,superfamily_SSF52540 GRIA3 2892 genome.wustl.edu 37 X 122599615 122599615 + Silent SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_000828.4 +1 reviewed p.A805V 1.000 142 0% 73 38.4% 1 0% - - - NULL CLIC2 1193 genome.wustl.edu 37 X 154508586 154508586 + Missense_Mutation SNP C C T novel TCGA-AX-A06B-01A-11W-A027-09 TCGA-AX-A06B-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 632c4bdd-24fd-404b-a4d3-bddec5defd11 acfa7e26-a9fa-43ea-9eac-bcdf23e962e8 NM_001289.4 -1 reviewed p.R145H 0.998 202 0% 203 46.3% 8 12.5% probably_damaging(0.987) deleterious(0.03) deleterious(0.801) superfamily_Glutathione S-transferase (GST) C-terminal domain