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 TAS1R1 80835 genome.wustl.edu 37 1 6638925 6638925 + Missense_Mutation SNP C C A rs41278022 byCluster;byFrequency;by1000genomes TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_138697.3 +1 reviewed p.R603S 0.034 149 0% 157 27.4% 2 100% benign(0.086) tolerated(0.31) neutral(0.034) HMMPfam_7tm_3 CAPZB 832 genome.wustl.edu 37 1 19705072 19705072 + Silent SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 ENST00000375145 -1 known p.E159 1.000 167 0% 278 28.8% 273 8.4% - - - HMMPfam_F_actin_cap_B,superfamily_Subunits of heterodimeric actin filament capping protein Capz MEF2D 4209 genome.wustl.edu 37 1 156438046 156438046 + Silent SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_005920.2 -1 provisional p.T431 1.000 37 0% 83 16.9% 29 3.4% - - - NULL IGFN1 91156 genome.wustl.edu 37 1 201182687 201182687 + Missense_Mutation SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 ENST00000451870 +1 known p.A432V 0.001 65 0% 129 22.5% 0 - possibly_damaging(0.647) deleterious(0.02) deleterious(0.610) NULL DPYSL5 56896 genome.wustl.edu 37 2 27121505 27121505 + Silent SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_020134.3 +1 validated p.G46 0.227 89 0% 236 48.3% 0 - - - - superfamily_Metalo_hydrolase KCMF1 56888 genome.wustl.edu 37 2 85276519 85276519 + Missense_Mutation SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_020122.4 +1 validated p.R211H 1.000 131 0% 299 12.7% 58 6.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TEKT4 150483 genome.wustl.edu 37 2 95540689 95540689 + Silent SNP C C G novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_144705.2 +1 provisional p.R294 0.146 72 0% 142 23.9% 1 0% - - - HMMPfam_Tektin FAM123C 205147 genome.wustl.edu 37 2 131520654 131520654 + Silent SNP A A C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001105193.1 +1 validated p.R337 0.018 39 0% 61 13.1% 0 - - - - HMMPfam_WTX METTL8 79828 genome.wustl.edu 37 2 172195757 172195757 + Missense_Mutation SNP G G C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 ENST00000375258 -1 known p.H181Q 0.000 296 0.3% 653 19.3% 1 0% benign(0.045) tolerated(0.33) neutral(0.026) superfamily_S-adenosyl-L-methionine-dependent methyltransferases TTN 7273 genome.wustl.edu 37 2 179485147 179485147 + Silent SNP A A G novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 ENST00000356127 -1 known p.D12799 1.000 213 0% 278 32% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set RBM5 10181 genome.wustl.edu 37 3 50155840 50155840 + Missense_Mutation SNP A A G novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_005778.1 +1 provisional p.K800R 1.000 120 0% 257 19.8% 61 19.6% possibly_damaging(0.945) tolerated(0.12) deleterious(0.650) NULL PIK3CA 5290 genome.wustl.edu 37 3 178952088 178952088 + Missense_Mutation SNP A A G novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_006218.2 +1 reviewed p.H1048R 1.000 144 0% 320 50.6% 24 45.8% benign(0.047) tolerated(1) neutral(0.003) HMMSmart_PI3Kc,superfamily_Kinase_like PIK3R1 5295 genome.wustl.edu 37 5 67589605 67589616 + In_Frame_Del DEL TCAAGAAAAAAG TCAAGAAAAAAG - novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 TCAAGAAAAAAG TCAAGAAAAAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_181523.1 +1 reviewed p.QEKS457in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999 - - - - - - - - - NULL CTNNA1 1495 genome.wustl.edu 37 5 138269727 138269727 + Silent SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001903.2 +1 validated p.H890 0.476 92 0% 239 24.3% 205 14.6% - - - NULL LOC100128372 100128372 genome.wustl.edu 37 6 2341909 2341909 + Missense_Mutation SNP G G T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 XM_001716747.1 +1 model p.D76Y 0.999 4 0.000 15 0.533 6 0% - - - HMMPfam_HMG14_17,HMMSmart_SM00527 BCLAF1 9774 genome.wustl.edu 37 6 136599687 136599687 + Missense_Mutation SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_014739.2 -1 reviewed p.R111H 1.000 172 0% 321 15.3% 9 0% unknown(0) deleterious(0.03) - NULL PDE10A 10846 genome.wustl.edu 37 6 165829718 165829718 + Silent SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001130690.1 -1 validated p.V350 1.000 323 0% 651 18.1% 2 0% - - - HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 PKD1L1 168507 genome.wustl.edu 37 7 47851554 47851554 + Missense_Mutation SNP G G T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_138295.2 -1 reviewed p.P2481H 0.996 134 0% 187 11.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PKD_channel EGR3 1960 genome.wustl.edu 37 8 22548381 22548381 + Missense_Mutation SNP G G C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_004430.2 -1 reviewed p.R257G 1.000 130 0% 223 15.2% 4 0% possibly_damaging(0.899) deleterious(0) deleterious(0.800) superfamily_C2H2 and C2HC zinc fingers FZD3 7976 genome.wustl.edu 37 8 28360563 28360563 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_017412.2 +1 reviewed p.W11* 0.998 317 0% 516 40.1% 2 0% - - - NULL PRDM14 63978 genome.wustl.edu 37 8 70964318 70964318 + Missense_Mutation SNP G G C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_024504.2 -1 validated p.D570E 0.004 88 0% 216 17.6% 0 - benign(0.007) tolerated(0.36) neutral(0.020) NULL KIAA1429 25962 genome.wustl.edu 37 8 95531478 95531478 + Missense_Mutation SNP C C A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_015496.3 -1 validated p.D750Y 1.000 101 0% 208 13.9% 3 0% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL TMEM65 157378 genome.wustl.edu 37 8 125334371 125334371 + Missense_Mutation SNP G G C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_194291.2 -1 validated p.L164V 1.000 106 0% 352 30.7% 2 50% probably_damaging(0.971) tolerated(0.33) neutral(0.437) HMMPfam_DUF2453 TG 7038 genome.wustl.edu 37 8 133899479 133899479 + Missense_Mutation SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_003235.4 +1 reviewed p.T621M 0.947 138 0% 302 30.8% 0 - benign(0.039) deleterious(0) neutral(0.447) HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain ZNF250 58500 genome.wustl.edu 37 8 146108071 146108071 + Missense_Mutation SNP G G C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_021061.3 -1 validated p.S171C 0.000 250 0% 557 20.3% 3 0% benign(0) tolerated(0.2) neutral(0.049) NULL PTCH1 5727 genome.wustl.edu 37 9 98209328 98209328 + Missense_Mutation SNP T T C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_000264.3 -1 reviewed p.T1404A 1.000 47 0% 58 31% 7 0% probably_damaging(0.971) tolerated(0.09) deleterious(0.710) NULL ASB13 79754 genome.wustl.edu 37 10 5691014 5691014 + Missense_Mutation SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_024701.3 -1 reviewed p.H146Y 0.959 91 0% 180 41.7% 4 0% benign(0.202) tolerated(1) neutral(0.019) HMMPfam_Ank,superfamily_Ankyrin repeat CALHM2 51063 genome.wustl.edu 37 10 105206879 105206879 + RNA SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NR_024552.1 -1 validated NULL 0.001 32 0% 69 26.1% 47 2.1% - - - - CTBP2 1488 genome.wustl.edu 37 10 126715053 126715053 + Missense_Mutation SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_022802.2 -1 reviewed p.V426M 0.028 41 0% 99 47.5% 0 - benign(0.163) tolerated(0.11) neutral(0.286) NULL OR52N4 390072 genome.wustl.edu 37 11 5776455 5776455 + Missense_Mutation SNP C C A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001005175.2 +1 validated p.T162N 0.000 236 0% 409 11% 0 - possibly_damaging(0.455) deleterious(0.03) deleterious(0.513) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52N2 390077 genome.wustl.edu 37 11 5842475 5842475 + Nonsense_Mutation SNP G G T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001005174.1 +1 provisional p.E304* 0.344 126 0% 202 17.3% 0 - - - - superfamily_SSF81321 OR4C46 119749 genome.wustl.edu 37 11 51515905 51515905 + Silent SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001004703.1 +1 provisional p.N208 0.029 226 0% 389 14.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 STIP1 10963 genome.wustl.edu 37 11 63964833 63964833 + Missense_Mutation SNP G G C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_006819.2 +1 validated p.D255H 1.000 144 0% 308 34.4% 47 27.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 ATG2A 23130 genome.wustl.edu 37 11 64665594 64665594 + Missense_Mutation SNP T T C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_015104.2 -1 validated p.I1608V 0.959 58 0% 134 16.4% 14 0% benign(0.001) tolerated(1) - NULL KRAS 3845 genome.wustl.edu 37 12 25398260 25398260 + Missense_Mutation SNP G G C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_033360.2 -1 reviewed p.T20R 1.000 236 0% 503 12.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases LIMA1 51474 genome.wustl.edu 37 12 50571459 50571459 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001113546.1 -1 validated p.W557* 1.000 159 0% 368 10.9% 14 0% - - - NULL ACVRL1 94 genome.wustl.edu 37 12 52309848 52309848 + Silent SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_000020.2 +1 reviewed p.S359 0.253 49 0% 78 38.5% 70 0% - - - superfamily_Kinase_like,HMMPfam_Pkinase KRT84 3890 genome.wustl.edu 37 12 52774226 52774226 + Missense_Mutation SNP G G T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_033045.3 -1 reviewed p.Q449K 1.000 52 0% 165 17% 0 - possibly_damaging(0.565) deleterious(0) deleterious(0.637) HMMPfam_Filament VEZT 55591 genome.wustl.edu 37 12 95694438 95694438 + Nonsense_Mutation SNP G G T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_017599.3 +1 validated p.E777* 0.998 46 0% 79 21.5% 17 5.8% - - - NULL RNF10 9921 genome.wustl.edu 37 12 121009031 121009031 + Missense_Mutation SNP G G T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_014868.4 +1 reviewed p.Q693H 0.998 108 0% 229 27.5% 146 24.6% possibly_damaging(0.677) tolerated(0.1) deleterious(0.527) NULL FAM48A 55578 genome.wustl.edu 37 13 37607713 37607713 + Silent SNP A A G novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001014286.2 -1 validated p.L194 0.558 135 0% 277 36.1% 4 0% - - - NULL UPF3A 65110 genome.wustl.edu 37 13 115070344 115070344 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_023011.2 +1 reviewed p.A462fs 0.822 - - - - - - - - - NULL AKAP6 9472 genome.wustl.edu 37 14 33293222 33293222 + Missense_Mutation SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_004274.4 +1 reviewed p.S2068L 1.000 103 0% 205 15.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL RPS29 6235 genome.wustl.edu 37 14 50053006 50053006 + Missense_Mutation SNP G G C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001030001.1 -1 reviewed p.S20C 1.000 115 0% 209 62.2% 2083 32% benign(0.006) tolerated(0.28) neutral(0.032) HMMPfam_Ribosomal_S14 FAM71D 161142 genome.wustl.edu 37 14 67664950 67664950 + Missense_Mutation SNP T T G novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_173526.2 +1 validated p.H24Q 0.000 155 0% 339 49.3% 0 - benign(0.001) tolerated(0.7) neutral(0.002) NULL MAGEL2 54551 genome.wustl.edu 37 15 23890003 23890003 + Missense_Mutation SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_019066.4 -1 reviewed p.A360T 0.844 52 0% 78 23.1% 0 - benign(0) tolerated(0.74) neutral(0.002) NULL XYLT1 64131 genome.wustl.edu 37 16 17202804 17202804 + Silent SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_022166.3 -1 reviewed p.N876 1.000 131 0% 286 29.4% 0 - - - - NULL PSKH1 5681 genome.wustl.edu 37 16 67961351 67961351 + Missense_Mutation SNP T T G novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_006742.2 +1 validated p.S361A 1.000 81 0% 101 36.6% 6 33.3% benign(0.106) tolerated(0.56) neutral(0.014) superfamily_Kinase_like ADAT1 23536 genome.wustl.edu 37 16 75654584 75654584 + Silent SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_012091.2 -1 reviewed p.V38 0.961 168 0% 230 20% 2 0% - - - HMMSmart_SM00552 SLC7A5 8140 genome.wustl.edu 37 16 87873324 87873324 + Missense_Mutation SNP G G C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_003486.5 -1 validated p.S308C 0.997 76 0% 182 16.5% 40 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AA_permease ZNF778 197320 genome.wustl.edu 37 16 89291210 89291211 + Frame_Shift_Ins INS - - GTGA rs113560259 byCluster;by1000genomes TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 ENST00000306502 +1 known p.E40fs 0.001:0.001 - - - - - - - - - NULL C16orf7 9605 genome.wustl.edu 37 16 89785532 89785532 + Silent SNP A A T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 ENST00000261625 -1 known p.T55 0.000 150 0% 331 39% 3 0% - - - NULL TP53 7157 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_000546.4 -1 reviewed p.Y220C 0.998 265 0% 365 48.8% 29 27.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 MBTD1 54799 genome.wustl.edu 37 17 49270231 49270231 + Silent SNP A A G novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_017643.2 -1 validated p.D534 0.998 261 0% 339 13.9% 1 100% - - - HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT CA10 56934 genome.wustl.edu 37 17 50008395 50008395 + Silent SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001082533.1 -1 reviewed p.F78 1.000 201 0% 236 52.1% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ARSG 22901 genome.wustl.edu 37 17 66343266 66343266 + Missense_Mutation SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_014960.3 +1 validated p.G136D 1.000 274 0% 394 48% 2 0% benign(0.053) deleterious(0.04) neutral(0.352) HMMPfam_Sulfatase,PatternScan_SULFATASE_2,superfamily_Alkaline_phosphatase_core LAMA3 3909 genome.wustl.edu 37 18 21512168 21512168 + Missense_Mutation SNP G G C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_198129.1 +1 reviewed p.R2874T 0.473 175 0% 366 11.5% 5 40% benign(0.122) tolerated(0.44) neutral(0.022) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CD226 10666 genome.wustl.edu 37 18 67563237 67563237 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_006566.2 -1 reviewed p.E143* 0.090 123 0% 254 13.8% 0 - - - - HMMSmart_IGc2,HMMPfam_V-set,superfamily_SSF48726 NETO1 81832 genome.wustl.edu 37 18 70461400 70461400 + Silent SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_138966.2 -1 reviewed p.S197 0.444 181 0% 301 36.9% 0 - - - - HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DMKN 93099 genome.wustl.edu 37 19 36004003 36004003 + Silent SNP T T C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_033317.3 -1 reviewed p.A125 0.000 196 0% 378 35.7% 10 50% - - - NULL WDR62 284403 genome.wustl.edu 37 19 36592161 36592161 + Silent SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_001083961.1 +1 validated p.Q971 0.000 21 0% 69 15.9% 2 50% - - - NULL LILRB2 10288 genome.wustl.edu 37 19 54782389 54782389 + Nonsense_Mutation SNP G G T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_005874.3 -1 reviewed p.S328* 0.030 111 0% 212 15.1% 3 0% - - - superfamily_Immunoglobulin ZNF71 58491 genome.wustl.edu 37 19 57134084 57134084 + Missense_Mutation SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_021216.4 +1 validated p.R477C 0.523 48 0% 82 20.7% 2 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LZTR1 8216 genome.wustl.edu 37 22 21351542 21351542 + Missense_Mutation SNP C C T novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_006767.3 +1 reviewed p.R810W 1.000 121 0% 126 29.4% 12 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ENSG00000211459 0 genome.wustl.edu 37 MT 669 669 + RNA SNP T T C novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 ENST00000389680 +1 known NULL NULL 223 0% 1092 21.6% 4142 22.6% - - - - SSX5 6758 genome.wustl.edu 37 X 48054725 48054725 + Splice_Site SNP C C A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_021015.3 -1 reviewed e1+1 0.018 352 0% 801 10.9% 0 - - - - - LOC100288033 100288033 genome.wustl.edu 37 X 70888743 70888743 + Missense_Mutation SNP G G A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 XM_002343818.1 +1 model p.V364M 0.000 35 0% 101 32.7% 0 - - - - NULL ACSL4 2182 genome.wustl.edu 37 X 108926599 108926599 + Missense_Mutation SNP T T A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_022977.2 -1 reviewed p.K39N 1.000 334 0% 675 10.2% 1 0% benign(0) tolerated(0.27) neutral(0.034) NULL FATE1 89885 genome.wustl.edu 37 X 150884676 150884676 + Missense_Mutation SNP C C A novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_033085.2 +1 reviewed p.Q29K 0.028 98 0% 200 12.5% 0 - possibly_damaging(0.763) tolerated(0.43) neutral(0.296) NULL PDZD4 57595 genome.wustl.edu 37 X 153069728 153069728 + Missense_Mutation SNP C C G novel TCGA-BG-A0M8-01A-12D-A10B-09 TCGA-BG-A0M8-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e5c9bd8d-980d-47e9-9b0f-7cafecd625e9 9411bdaf-e59a-4884-b424-87193e1dfe94 NM_032512.2 -1 provisional p.D464H 1.000 20 0% 34 20.6% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL