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 PLCH2 9651 genome.wustl.edu 37 1 2418791 2418791 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014638.2 +1 provisional p.Q364* 1.000 8 0.000 7 0.714 0 - - - - HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases UQCRHL 440567 genome.wustl.edu 37 1 16133901 16133901 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001089591.1 -1 provisional p.V82M 0.998 177 0% 156 14.1% 0 - - - - HMMPfam_UCR_hinge,superfamily_Non-heme 11 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) PTPRU 10076 genome.wustl.edu 37 1 29649897 29649897 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005704.3 +1 reviewed p.Y1291* 1.000 33 0% 23 21.7% 45 0% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II ZNF642 339559 genome.wustl.edu 37 1 40945117 40945117 + Silent SNP G G C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_198494.2 +1 validated p.G28 0.176 109 0% 62 35.5% 1 0% - - - NULL DAB1 1600 genome.wustl.edu 37 1 57537315 57537315 + Splice_Site SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_021080.3 -1 reviewed e5-1 1.000 152 0% 99 36.4% 0 - - - - - LRRC7 57554 genome.wustl.edu 37 1 70504190 70504190 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_020794.2 +1 validated p.A857T 1.000 311 0% 197 38.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GBP1 2633 genome.wustl.edu 37 1 89523870 89523870 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002053.2 -1 validated p.R227W 0.953 327 0% 256 41.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases TGFBR3 7049 genome.wustl.edu 37 1 92200407 92200407 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_003243.3 -1 validated p.R165Q 0.958 498 0% 411 42.1% 0 - benign(0.004) tolerated(0.62) neutral(0.004) NULL AMY2B 280 genome.wustl.edu 37 1 104116480 104116481 + Frame_Shift_Del DEL AT AT - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_020978.3 +1 reviewed p.I222fs 1.000:0.999 - - - - - - - - - HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_(Trans)glycosidases TAF13 6884 genome.wustl.edu 37 1 109607313 109607313 + Silent SNP A A C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005645.3 -1 reviewed p.T69 1.000 204 0% 161 42.2% 18 33.3% - - - HMMPfam_TFIID-18kDa,superfamily_Histone-fold TTF2 8458 genome.wustl.edu 37 1 117617534 117617534 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_003594.3 +1 reviewed p.H110Y 0.318 210 0% 123 16.3% 0 - benign(0.144) tolerated(0.57) neutral(0.019) NULL UBAP2L 9898 genome.wustl.edu 37 1 154228162 154228162 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000433615 +1 known p.V27I 0.869 180 0% 284 16.2% 326 12.8% - - - NULL KCNN3 3782 genome.wustl.edu 37 1 154680613 154680613 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002249.4 -1 reviewed p.D679N 0.997 96 0% 200 32% 8 12.5% benign(0.045) tolerated(0.25) neutral(0.040) NULL INSRR 3645 genome.wustl.edu 37 1 156821148 156821148 + Missense_Mutation SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014215.1 -1 validated p.F388S 1.000 277 0% 292 23.6% 0 - benign(0.016) deleterious(0.04) neutral(0.349) HMMPfam_Recep_L_domain,superfamily_SSF52058 FCRL5 83416 genome.wustl.edu 37 1 157516976 157516976 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_031281.2 -1 validated p.R22G 0.001 147 0% 169 22.5% 0 - possibly_damaging(0.881) deleterious(0.01) deleterious(0.749) superfamily_Immunoglobulin CACYBP 27101 genome.wustl.edu 37 1 174977775 174977775 + Missense_Mutation SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014412.2 +1 reviewed p.R155G 1.000 216 0% 337 19% 95 21% possibly_damaging(0.795) deleterious(0.03) deleterious(0.663) superfamily_HSP20-like chaperones,HMMPfam_CS CDC73 79577 genome.wustl.edu 37 1 193099332 193099332 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_024529.4 +1 reviewed p.P89L 1.000 104 0% 201 19.9% 17 29.4% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ASPM 259266 genome.wustl.edu 37 1 197115445 197115446 + Frame_Shift_Del DEL GA GA - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_018136.4 -1 reviewed p.L41fs 0.999:0.998 - - - - - - - - - NULL PPFIA4 8497 genome.wustl.edu 37 1 203036894 203036894 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_015053.1 +1 validated p.R535Q 1.000 110 0% 134 10.4% 1 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL NFASC 23114 genome.wustl.edu 37 1 204939777 204939777 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_015090.3 +1 reviewed p.L357P 1.000 73 0% 123 20.3% 1 0% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_I-set,superfamily_SSF48726 PIGR 5284 genome.wustl.edu 37 1 207112799 207112799 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002644.3 -1 reviewed p.T18M 0.130 96 0% 94 68.1% 1005 72.9% benign(0.003) tolerated(0.66) neutral(0.003) NULL EPRS 2058 genome.wustl.edu 37 1 220146725 220146725 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004446.2 -1 reviewed p.L1367F 1.000 235 0% 368 21.7% 142 14.7% benign(0.103) tolerated(0.1) neutral(0.294) HMMPfam_HGTP_anticodon,superfamily_Anticodon_bd LYST 1130 genome.wustl.edu 37 1 235969296 235969296 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_000081.2 -1 reviewed p.P1047H 0.000 368 0% 547 15.9% 0 - benign(0.313) tolerated(0.06) neutral(0.420) NULL LYST 1130 genome.wustl.edu 37 1 235972935 235972935 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_000081.2 -1 reviewed p.R395C 0.995 265 0.4% 432 17.6% 0 - benign(0.094) tolerated(0.13) neutral(0.260) NULL NID1 4811 genome.wustl.edu 37 1 236144980 236144980 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002508.2 -1 reviewed p.T1053M 0.996 154 0% 264 17% 12 0% possibly_damaging(0.934) deleterious(0) deleterious(0.825) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain GTF3C2 2976 genome.wustl.edu 37 2 27560872 27560872 + Missense_Mutation SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001035521.1 -1 validated p.C291R 1.000 476 0% 536 37.1% 21 23.8% possibly_damaging(0.517) deleterious(0) deleterious(0.619) NULL NRXN1 9378 genome.wustl.edu 37 2 50765688 50765688 + Missense_Mutation SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001135659.1 -1 reviewed p.G656W 1.000 264 0% 188 10.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 IGKV1D-17 28900 genome.wustl.edu 37 2 90122099 90122099 + Missense_Mutation SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000483379 +1 known p.A106E 0.920 619 0% 418 29.4% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MRPL30 51263 genome.wustl.edu 37 2 99802683 99802683 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_145212.2 +1 reviewed p.R6H 0.154 117 0% 168 34.5% 13 23% benign(0.008) deleterious(0) neutral(0.445) NULL SEPT10 151011 genome.wustl.edu 37 2 110301779 110301779 + Missense_Mutation SNP A A C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000334001 -1 known p.F519V 0.348 33 0% 24 41.7% 2 0% unknown(0) deleterious(0) - NULL ZC3H6 376940 genome.wustl.edu 37 2 113080289 113080289 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_198581.2 +1 validated p.R384C 0.992 214 0% 221 40.7% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RGPD8 727851 genome.wustl.edu 37 2 113161751 113161751 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000302558 -1 known p.G356 0.999 368 0% 361 8% 0 - - - - NULL POLR1B 84172 genome.wustl.edu 37 2 113333173 113333173 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_019014.4 +1 validated p.R1092H 1.000 287 0% 189 30.7% 15 13.3% probably_damaging(0.96) tolerated(0.06) deleterious(0.726) HMMPfam_RNA_pol_Rpb2_7,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase CCDC93 54520 genome.wustl.edu 37 2 118766132 118766132 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_019044.3 -1 validated p.P49S 1.000 239 0% 248 31.9% 0 - benign(0.039) tolerated(0.07) neutral(0.321) HMMPfam_KOG2701 CLASP1 23332 genome.wustl.edu 37 2 122104696 122104697 + In_Frame_Ins INS - - CCTTAC novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_015282.2 -1 validated p.1483in_frame_insGK 1.000:1.000 - - - - - - - - - HMMPfam_HEAT,superfamily_ARM repeat GALNT13 114805 genome.wustl.edu 37 2 155158024 155158024 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_052917.2 +1 validated p.V360I 1.000 255 0% 166 16.9% 0 - benign(0.006) tolerated(0.76) neutral(0.001) superfamily_Nucleotide-diphospho-sugar transferases BAZ2B 29994 genome.wustl.edu 37 2 160229564 160229564 + Missense_Mutation SNP C C G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_013450.2 -1 validated p.S1402T 1.000 257 0% 236 39.4% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL TANK 10010 genome.wustl.edu 37 2 162087509 162087509 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004180.2 +1 reviewed p.C183Y 1.000 158 0% 89 16.9% 13 23% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SCN2A 6326 genome.wustl.edu 37 2 166245650 166245650 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001040142.1 +1 reviewed p.N1778 1.000 1021 0% 648 20.7% 0 - - - - superfamily_Voltage-gated potassium channels NFE2L2 4780 genome.wustl.edu 37 2 178098799 178098799 + Missense_Mutation SNP T T A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_006164.3 -1 validated p.E82D 1.000 134 0% 122 16.4% 34 5.8% possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL TTN 7273 genome.wustl.edu 37 2 179443688 179443690 + In_Frame_Del DEL TTG TTG - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000356127 -1 known p.N20119in_frame_del 1.000:1.000:0.999 - - - - - - - - - HMMPfam_fn3,HMMSmart_SM00060 STAT1 6772 genome.wustl.edu 37 2 191862646 191862646 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_007315.3 -1 reviewed p.R241W 0.995 133 0% 113 38.1% 39 35.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_STAT_alpha,superfamily_STAT PGAP1 80055 genome.wustl.edu 37 2 197706041 197706041 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_024989.3 -1 validated p.A896T 1.000 135 0% 101 18.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL NRP2 8828 genome.wustl.edu 37 2 206610567 206610567 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_201266.1 +1 reviewed p.P580L 0.998 61 0% 32 15.6% 2 50% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_2,superfamily_Galactose-binding domain-like HHATL 57467 genome.wustl.edu 37 3 42739634 42739634 + Missense_Mutation SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_020707.3 -1 validated p.Q231H 1.000 91 0% 75 21.3% 1 0% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) HMMPfam_MBOAT IP6K1 9807 genome.wustl.edu 37 3 49785304 49785304 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_153273.3 -1 reviewed p.R57H 1.000 74 0% 58 43.1% 8 75% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) superfamily_SAICAR synthase-like SEMA3B 7869 genome.wustl.edu 37 3 50311393 50311393 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004636.2 +1 reviewed p.C347 0.997 36 0% 23 30.4% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLMAP 7871 genome.wustl.edu 37 3 57882285 57882285 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_007159.2 +1 validated p.P436S 1.000 36 0% 46 39.1% 11 63.6% possibly_damaging(0.922) tolerated(0.18) neutral(0.427) NULL MAGI1 9223 genome.wustl.edu 37 3 65415497 65415497 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001033057.1 -1 reviewed p.H622R 1.000 177 0% 144 15.3% 5 80% possibly_damaging(0.595) tolerated(0.33) neutral(0.230) superfamily_PDZ domain-like ZXDC 79364 genome.wustl.edu 37 3 126191101 126191101 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_025112.4 -1 validated p.R319* 1.000 93 0% 61 11.5% 4 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC33A1 9197 genome.wustl.edu 37 3 155547521 155547521 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004733.2 -1 reviewed p.V480I 0.931 94 0% 119 40.3% 34 20.5% benign(0.009) tolerated(0.56) neutral(0.007) superfamily_MFS general substrate transporter FXR1 8087 genome.wustl.edu 37 3 180667086 180667086 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005087.2 +1 reviewed p.K195N 1.000 236 0% 234 14.1% 43 4.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PCYT1A 5130 genome.wustl.edu 37 3 195974330 195974330 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005017.2 -1 provisional p.R132S 1.000 110 0% 82 12.2% 17 17.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CTP_transf_2,superfamily_SSF52374 C3orf43 255798 genome.wustl.edu 37 3 196234758 196234758 + Nonstop_Mutation SNP T T A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001077657.1 -1 validated p.*215Y 0.250 70 0% 49 12.2% 0 - - - - NULL MSX1 4487 genome.wustl.edu 37 4 4864581 4864581 + Missense_Mutation SNP C C T rs104893853 byCluster TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002448.3 +1 reviewed p.S208L 1.000 94 0% 22 36.4% 952 42.2% possibly_damaging(0.559) deleterious(0) deleterious(0.635) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 ANAPC4 29945 genome.wustl.edu 37 4 25394002 25394002 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_013367.2 +1 reviewed p.R250W 1.000 109 0% 88 29.5% 19 52.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL FIP1L1 81608 genome.wustl.edu 37 4 54294283 54294283 + Silent SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_030917.3 +1 reviewed p.L369 0.919 108 0% 84 35.7% 43 16.2% - - - NULL LNX1 84708 genome.wustl.edu 37 4 54343122 54343122 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001126328.1 -1 reviewed p.V564I 0.000 371 0% 305 14.1% 22 18.1% benign(0) tolerated(0.63) neutral(0.004) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like KDR 3791 genome.wustl.edu 37 4 55964953 55964953 + Missense_Mutation SNP T T A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002253.2 -1 reviewed p.N762Y 1.000 145 0% 152 36.2% 2 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TIGD2 166815 genome.wustl.edu 37 4 90035363 90035363 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_145715.2 +1 reviewed p.V413A 0.994 155 0% 82 11% 6 33.3% benign(0.427) tolerated(0.12) neutral(0.400) NULL NFKB1 4790 genome.wustl.edu 37 4 103537620 103537620 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_003998.3 +1 reviewed p.D927N 1.000 215 0% 119 38.7% 47 27.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TTC29 83894 genome.wustl.edu 37 4 147741361 147741361 + Missense_Mutation SNP T T A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_031956.2 -1 validated p.K339N 0.624 217 0% 217 23% 5 20% benign(0.28) tolerated(0.36) neutral(0.106) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TMEM144 55314 genome.wustl.edu 37 4 159165484 159165484 + Missense_Mutation SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_018342.4 +1 validated p.M313V 1.000 136 0% 107 43% 6 33.3% benign(0) tolerated(1) - NULL STOX2 56977 genome.wustl.edu 37 4 184932195 184932195 + Nonsense_Mutation SNP T T A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_020225.1 +1 provisional p.L735* 0.994 59 0% 31 12.9% 1 0% - - - NULL CDH12 1010 genome.wustl.edu 37 5 22078650 22078650 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004061.3 -1 reviewed p.R46W 0.619 314 0.3% 248 39.5% 0 - possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) NULL MRPS30 10884 genome.wustl.edu 37 5 44815015 44815015 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_016640.3 +1 reviewed p.G344V 1.000 266 0% 213 39.9% 22 13.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDCD9 PIK3R1 5295 genome.wustl.edu 37 5 67592108 67592108 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_181523.1 +1 reviewed p.R642* 0.990 241 0% 192 27.1% 193 28.4% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain NR2F1 7025 genome.wustl.edu 37 5 92923708 92923708 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005654.4 +1 provisional p.C183 1.000 47 0% 25 20% 11 18.1% - - - superfamily_Str_ncl_receptor,HMMPfam_zf-C4_C PAM 5066 genome.wustl.edu 37 5 102342537 102342537 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000379799 +1 known p.P385S 0.914 246 0% 191 13.1% 403 33.2% - - - superfamily_NHL repeat GIN1 54826 genome.wustl.edu 37 5 102432488 102432488 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_017676.2 -1 validated p.I351V 0.032 303 0% 214 36.4% 0 - benign(0) tolerated(0.72) neutral(0.002) NULL SRFBP1 153443 genome.wustl.edu 37 5 121356274 121356274 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_152546.2 +1 validated p.G282S 1.000 293 0% 299 39.8% 1 100% possibly_damaging(0.895) tolerated(0.67) neutral(0.355) NULL PCDHA13 56136 genome.wustl.edu 37 5 140263388 140263388 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_018904.2 +1 reviewed p.A512V 1.000 78 0% 60 43.3% 0 - possibly_damaging(0.732) deleterious(0) deleterious(0.712) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB7 56129 genome.wustl.edu 37 5 140553910 140553910 + Silent SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_018940.2 +1 reviewed p.L498 0.002 236 0% 107 50.5% 2 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140774472 140774472 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_032088.1 +1 reviewed p.A698T 0.995 49 0% 24 29.2% 0 - benign(0.199) deleterious(0.01) neutral(0.425) NULL JARID2 3720 genome.wustl.edu 37 6 15511536 15511536 + Silent SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004973.2 +1 reviewed p.I952 1.000 78 0% 48 41.7% 13 15.3% - - - HMMSmart_SM00558,HMMPfam_JmjC KIAA0319 9856 genome.wustl.edu 37 6 24596506 24596506 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014809.3 -1 reviewed p.D132 0.553 118 0% 84 14.3% 0 - - - - NULL HIST1H1A 3024 genome.wustl.edu 37 6 26017426 26017426 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005325.3 -1 reviewed p.K179E 1.000 171 0% 117 30.8% 0 - unknown(0) tolerated(0.16) - NULL TRIM27 5987 genome.wustl.edu 37 6 28871884 28871884 + Missense_Mutation SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_006510.4 -1 reviewed p.V502A 0.991 262 0% 202 29.2% 173 34.1% unknown(0) deleterious(0) - NULL SLC39A7 7922 genome.wustl.edu 37 6 33171339 33171339 + Missense_Mutation SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001077516.1 +1 validated p.T387A 1.000 63 0% 37 10.8% 402 13.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Zip FGD2 221472 genome.wustl.edu 37 6 36995822 36995822 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_173558.3 +1 validated p.Q617 0.998 41 0% 19 21.1% 3 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PTK7 5754 genome.wustl.edu 37 6 43098061 43098061 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002821.3 +1 reviewed p.R188 0.008 61 0% 39 10.3% 54 37% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SRF 6722 genome.wustl.edu 37 6 43144340 43144340 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_003131.2 +1 reviewed p.P366L 1.000 143 0% 89 29.2% 31 12.9% possibly_damaging(0.919) tolerated(0.1) deleterious(0.656) NULL KLHL31 401265 genome.wustl.edu 37 6 53519187 53519187 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001003760.4 -1 validated p.H295R 1.000 215 0% 161 48.4% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_Gal_oxid_central HACE1 57531 genome.wustl.edu 37 6 105178225 105178225 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_020771.3 -1 validated p.I860 0.633 165 0% 137 11.7% 0 - - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain CTAGE9 643854 genome.wustl.edu 37 6 132031511 132031511 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001145659.1 -1 provisional p.N216S 0.000 304 0% 300 14% 1 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL VNN1 8876 genome.wustl.edu 37 6 133013632 133013632 + Silent SNP G G T rs3798799 byFrequency TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004666.2 -1 reviewed p.S306 0.072 153 0% 118 37.3% 2 50% - - - NULL LATS1 9113 genome.wustl.edu 37 6 150004256 150004256 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004690.2 -1 reviewed p.R657C 1.000 209 0% 153 11.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLDN20 49861 genome.wustl.edu 37 6 155596902 155596902 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001001346.3 +1 reviewed p.G17R 1.000 254 0% 235 38.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMP22_Claudin RPS6KA2 6196 genome.wustl.edu 37 6 166912132 166912132 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001006932.1 -1 reviewed p.G212D 1.000 74 0% 40 15% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HOXA3 3200 genome.wustl.edu 37 7 27148284 27148284 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_030661.4 -1 reviewed p.A194 0.987 60 0% 31 25.8% 3 33.3% - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like PKD1L1 168507 genome.wustl.edu 37 7 47852856 47852857 + Frame_Shift_Del DEL AG AG - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_138295.2 -1 reviewed p.S2403fs 0.000:0.000 - - - - - - - - - HMMPfam_PKD_channel TRIM74 378108 genome.wustl.edu 37 7 72430723 72430723 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_198853.1 -1 provisional p.P185 0.980 80 0% 55 18.2% 1 100% - - - NULL MAGI2 9863 genome.wustl.edu 37 7 77764356 77764356 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_012301.3 -1 reviewed p.R1005C 1.000 126 0% 71 40.8% 0 - benign(0.005) deleterious(0.02) neutral(0.383) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like ADAM22 53616 genome.wustl.edu 37 7 87759714 87759714 + Silent SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_021723.2 +1 reviewed p.H255 1.000 129 0% 142 38.7% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" PDK4 5166 genome.wustl.edu 37 7 95224435 95224435 + Silent SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002612.3 -1 reviewed p.R58 0.919 125 0% 60 11.7% 1 0% - - - HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain MOGAT3 346606 genome.wustl.edu 37 7 100839340 100839340 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_178176.2 -1 provisional p.E305K 0.001 15 0.000 8 0.750 0 - benign(0.004) tolerated(0.52) neutral(0.009) HMMPfam_DAGAT CDHR3 222256 genome.wustl.edu 37 7 105658463 105658463 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_152750.4 +1 validated p.P533L 0.002 66 0% 62 32.3% 0 - benign(0.059) tolerated(0.18) neutral(0.060) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SLC26A3 1811 genome.wustl.edu 37 7 107423712 107423712 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_000111.2 -1 reviewed p.V353M 0.998 306 0% 216 11.1% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Sulfate_transp LRRC4 64101 genome.wustl.edu 37 7 127670380 127670380 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_022143.4 -1 validated p.Q105R 1.000 55 0% 22 27.3% 5 20% benign(0.081) deleterious(0.02) neutral(0.389) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like ZNF862 643641 genome.wustl.edu 37 7 149558297 149558297 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001099220.1 +1 provisional p.I683T 1.000 36 0% 14 35.7% 5 0% possibly_damaging(0.814) deleterious(0) deleterious(0.752) NULL NOM1 64434 genome.wustl.edu 37 7 156746891 156746891 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_138400.1 +1 provisional p.A403T 0.011 94 0% 78 39.7% 10 20% benign(0.146) tolerated(0.08) neutral(0.312) HMMPfam_MIF4G,HMMSmart_MIF4G,superfamily_ARM-type_fold MYOM2 9172 genome.wustl.edu 37 8 2088763 2088763 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_003970.2 +1 validated p.F1306 0.009 176 0% 156 48.7% 1 0% - - - superfamily_SSF48726 BMP1 649 genome.wustl.edu 37 8 22033731 22033731 + Missense_Mutation SNP G G C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_006129.4 +1 reviewed p.R113T 0.390 56 0% 32 15.6% 18 50% benign(0) tolerated(0.44) neutral(0.013) NULL EPHX2 2053 genome.wustl.edu 37 8 27364474 27364474 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001979.4 +1 reviewed p.T208M 0.000 136 0% 83 39.8% 11 27.2% possibly_damaging(0.485) tolerated(0.07) deleterious(0.480) superfamily_SSF56784 RBPMS 11030 genome.wustl.edu 37 8 30402045 30402045 + Missense_Mutation SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001008712.1 +1 reviewed p.S144R 1.000 311 0% 215 12.6% 184 4.8% probably_damaging(0.999) tolerated(0.2) deleterious(0.539) NULL ST18 9705 genome.wustl.edu 37 8 53030908 53030908 + Missense_Mutation SNP A A C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014682.2 -1 validated p.L950R 1.000 104 0% 102 37.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP6V1H 51606 genome.wustl.edu 37 8 54714393 54714393 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_015941.2 -1 reviewed p.R215C 1.000 79 0% 70 18.6% 52 17.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-ATPase_H,superfamily_ARM repeat ASPH 444 genome.wustl.edu 37 8 62415992 62415992 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004318.3 -1 reviewed p.R735W 1.000 55 0% 54 48.1% 38 73.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Asp_Arg_Hydrox,superfamily_SSF51197 STAU2 27067 genome.wustl.edu 37 8 74464360 74464360 + Missense_Mutation SNP T T A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014393.2 -1 reviewed p.T441S 1.000 297 0% 281 13.2% 7 14.2% benign(0.428) deleterious(0.01) deleterious(0.544) NULL HNF4G 3174 genome.wustl.edu 37 8 76472673 76472673 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004133.4 +1 validated p.M396I 1.000 135 0% 97 11.3% 0 - benign(0.001) tolerated(0.26) neutral(0.034) NULL C9orf93 203238 genome.wustl.edu 37 9 15623374 15623374 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_173550.2 +1 predicted p.S262N 0.999 258 0% 227 10.6% 0 - probably_damaging(0.991) tolerated(0.18) deleterious(0.500) NULL MLLT3 4300 genome.wustl.edu 37 9 20414240 20414240 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004529.2 -1 validated p.E202K 1.000 211 0% 197 12.2% 2 0% possibly_damaging(0.798) deleterious(0.04) deleterious(0.649) NULL IL11RA 3590 genome.wustl.edu 37 9 34657553 34657553 + Silent SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001142784.1 +1 reviewed p.T205 0.945 49 0% 33 45.5% 5 0% - - - superfamily_Fibronectin type III TLN1 7094 genome.wustl.edu 37 9 35716421 35716421 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_006289.3 -1 reviewed p.A864V 1.000 112 0% 91 16.5% 25 4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF109885 MCART1 92014 genome.wustl.edu 37 9 37879638 37879638 + RNA DEL T T - rs140962867 byCluster;by1000genomes TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NR_024872.1 -1 validated NULL 0.002 - - - - - - - - - - NAA35 60560 genome.wustl.edu 37 9 88573426 88573426 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_024635.3 +1 validated p.M66I 1.000 61 0% 55 38.2% 2 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Mak10 ISCA1 81689 genome.wustl.edu 37 9 88881107 88881107 + Splice_Site SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_030940.3 -1 validated e4-1 1.000 218 0% 208 32.2% 2 50% - - - - FAM75C1 441452 genome.wustl.edu 37 9 90537610 90537610 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001145124.1 +1 validated p.A930T 0.001 266 0% 212 40.1% 0 - - - - NULL AUH 549 genome.wustl.edu 37 9 93983105 93983105 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001698.2 -1 reviewed p.A275 0.001 195 0% 165 14.5% 10 20% - - - superfamily_ClpP/crotonase HSD17B3 3293 genome.wustl.edu 37 9 99003054 99003054 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_000197.1 -1 reviewed p.A270T 0.875 187 0.5% 155 39.4% 9 66.6% benign(0.001) tolerated(0.93) - PatternScan_ALDEHYDE_DEHYDR_CYS ZNF367 195828 genome.wustl.edu 37 9 99154745 99154745 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_153695.3 -1 validated p.E255 1.000 106 0% 107 30.8% 2 0% - - - NULL LRRC8A 56262 genome.wustl.edu 37 9 131678559 131678559 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001127244.1 +1 reviewed p.R781H 1.000 65 0% 27 25.9% 29 0% probably_damaging(0.96) deleterious(0.02) deleterious(0.786) superfamily_L domain-like PITRM1 10531 genome.wustl.edu 37 10 3208420 3208420 + Splice_Site SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014889.2 -1 validated e4+1 1.000 220 0% 180 35% 0 - - - - - FRMD4A 55691 genome.wustl.edu 37 10 13852876 13852876 + Silent SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_018027.3 -1 validated p.L48 0.913 59 0% 41 36.6% 0 - - - - HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 CUBN 8029 genome.wustl.edu 37 10 16877011 16877011 + Splice_Site SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001081.3 -1 reviewed e64+2 1.000 309 0% 264 12.5% 0 - - - - - CUBN 8029 genome.wustl.edu 37 10 17113521 17113521 + Missense_Mutation SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001081.3 -1 reviewed p.R843S 0.999 143 0% 160 11.3% 0 - benign(0.269) tolerated(0.46) neutral(0.041) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain KIAA1217 56243 genome.wustl.edu 37 10 24832773 24832773 + Frame_Shift_Del DEL C C - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_019590.3 +1 validated p.L1526fs 0.001 - - - - - - - - - NULL ARMC4 55130 genome.wustl.edu 37 10 28149630 28149630 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_018076.2 -1 validated p.A982V 0.998 137 0% 82 57.3% 7 28.5% possibly_damaging(0.804) deleterious(0.01) deleterious(0.708) HMMSmart_SM00185,superfamily_ARM repeat ARMC4 55130 genome.wustl.edu 37 10 28272773 28272773 + Missense_Mutation SNP C C G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_018076.2 -1 validated p.G273A 1.000 84 0% 75 12% 0 - possibly_damaging(0.587) tolerated(0.2) neutral(0.252) NULL FRMPD2 143162 genome.wustl.edu 37 10 49457132 49457132 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001018071.3 -1 reviewed p.A81T 0.998 85 0% 55 41.8% 0 - probably_damaging(0.956) tolerated(0.12) deleterious(0.660) HMMSmart_SM00750 ARID5B 84159 genome.wustl.edu 37 10 63850870 63850870 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_032199.2 +1 validated p.E550* 0.963 150 0% 117 47.9% 3 33.3% - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G T rs121913292 TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000371953 +1 known p.R130L 1.000 297 0.3% 297 85.2% 34 94.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II ALDH18A1 5832 genome.wustl.edu 37 10 97402882 97402883 + Frame_Shift_Del DEL TG TG - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002860.3 -1 reviewed p.H57fs 0.993:0.993 - - - - - - - - - NULL SMC3 9126 genome.wustl.edu 37 10 112350787 112350787 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005445.3 +1 reviewed p.T570M 1.000 109 0% 124 13.7% 8 37.5% probably_damaging(0.993) tolerated(0.09) deleterious(0.746) HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,superfamily_P-loop containing nucleoside triphosphate hydrolases EPS8L2 64787 genome.wustl.edu 37 11 721595 721595 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_022772.3 +1 reviewed p.E267K 1.000 11 0% 11 45.5% 36 47.2% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL NLRP14 338323 genome.wustl.edu 37 11 7064548 7064548 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_176822.3 +1 reviewed p.A431T 0.983 320 0% 304 38.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000246273 0 genome.wustl.edu 37 11 9830659 9830659 + RNA SNP T T A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000498905 +1 known NULL 0.004 33 0% 24 29.2% 1 100% - - - - IGSF22 283284 genome.wustl.edu 37 11 18738287 18738287 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_173588.3 -1 validated p.L412F 1.000 177 0% 137 31.4% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 NAV2 89797 genome.wustl.edu 37 11 19954754 19954754 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_182964.5 +1 validated p.G322R 1.000 367 0% 184 32.6% 11 0% possibly_damaging(0.935) tolerated(0.12) deleterious(0.641) NULL PTPRJ 5795 genome.wustl.edu 37 11 48142635 48142635 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002843.3 +1 reviewed p.A145T 0.001 109 0% 53 13.2% 0 - benign(0.038) tolerated(0.55) neutral(0.009) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like LRRC55 219527 genome.wustl.edu 37 11 56954920 56954920 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001005210.2 +1 validated p.R331H 1.000 100 0% 46 43.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NXF1 10482 genome.wustl.edu 37 11 62561744 62561744 + Silent SNP G G A rs181325349 by1000genomes TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_006362.4 -1 reviewed p.L582 0.044 99 0% 47 36.2% 60 16.6% - - - HMMPfam_TAP_C,HMMSmart_TAP_C,superfamily_UBA_like PPP2R5B 5526 genome.wustl.edu 37 11 64698026 64698026 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_006244.3 +1 reviewed p.H286Y 1.000 51 0% 45 26.7% 15 6.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_B56 INPPL1 3636 genome.wustl.edu 37 11 71942633 71942634 + Frame_Shift_Ins INS - - G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001567.3 +1 reviewed p.K531fs 1.000:1.000 - - - - - - - - - HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos ODZ4 26011 genome.wustl.edu 37 11 78369233 78369233 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001098816.2 -1 validated p.Q2727R 1.000 191 0% 117 35.9% 2 100% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL FAT3 120114 genome.wustl.edu 37 11 92568207 92568207 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001008781.2 +1 validated p.A3348V 0.990 54 0% 42 35.7% 0 - benign(0.034) tolerated(0.92) neutral(0.002) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like ENDOD1 23052 genome.wustl.edu 37 11 94861586 94861586 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_015036.2 +1 validated p.E116K 0.112 129 0% 107 15% 4 0% benign(0.139) tolerated(0.69) neutral(0.014) HMMPfam_Endonuclease_NS,HMMSmart_NUC,superfamily_SSF54060 KBTBD3 143879 genome.wustl.edu 37 11 105924550 105924550 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_152433.3 -1 validated p.R289Q 1.000 161 0% 125 42.4% 5 0% probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL LRRK2 120892 genome.wustl.edu 37 12 40677756 40677756 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_198578.3 +1 reviewed p.A774V 0.995 252 0.4% 209 11% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANKRD52 283373 genome.wustl.edu 37 12 56639298 56639298 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_173595.3 -1 validated p.T756M 0.996 20 0% 38 26.3% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK LYZ 4069 genome.wustl.edu 37 12 69746053 69746053 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_000239.2 +1 reviewed p.R119C 0.010 135 0% 116 12.1% 110 0% benign(0.137) deleterious(0.04) neutral(0.360) HMMPfam_Lys,HMMSmart_SM00263,superfamily_Lysozyme-like C12orf63 374467 genome.wustl.edu 37 12 97051828 97051828 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_198520.2 +1 validated p.V182L 1.000 255 0% 193 38.9% 0 - unknown(0) tolerated(0.37) - NULL KSR2 283455 genome.wustl.edu 37 12 117962949 117962949 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_173598.4 -1 validated p.R614W 1.000 75 0% 51 11.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DDX55 57696 genome.wustl.edu 37 12 124094495 124094495 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_020936.1 +1 reviewed p.T187 1.000 72 0% 72 45.8% 4 0% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MTUS2 23281 genome.wustl.edu 37 13 29599704 29599704 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001033602.2 +1 validated p.S300L 0.000 171 0% 99 52.5% 0 - benign(0) tolerated(0.58) neutral(0.005) NULL RCBTB2 1102 genome.wustl.edu 37 13 49085932 49085932 + Missense_Mutation SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001268.2 -1 reviewed p.A253S 1.000 92 0% 89 21.3% 9 22.2% benign(0.003) tolerated(0.82) neutral(0.001) HMMPfam_RCC1,superfamily_RCC1/BLIP-II COL4A1 1282 genome.wustl.edu 37 13 110853211 110853211 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001845.4 -1 reviewed p.P370 1.000 76 0% 98 39.8% 26 15.3% - - - HMMPfam_Collagen TRAC 28755 genome.wustl.edu 37 14 22539385 22539385 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000446346 +1 known p.H77 0.016 134 0% 125 15.2% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin BRMS1L 84312 genome.wustl.edu 37 14 36331798 36331798 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_032352.3 +1 reviewed p.S148 1.000 145 0% 145 12.4% 4 25% - - - HMMPfam_Sds3 SSTR1 6751 genome.wustl.edu 37 14 38679111 38679111 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001049.2 +1 reviewed p.V173M 1.000 76 0% 49 34.7% 0 - probably_damaging(0.99) tolerated(0.2) deleterious(0.490) HMMPfam_7tm_1,superfamily_SSF81321 SOCS4 122809 genome.wustl.edu 37 14 55510262 55510262 + Missense_Mutation SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_080867.2 +1 reviewed p.Q168R 0.008 211 0.5% 152 38.2% 3 33.3% benign(0.006) deleterious(0.03) neutral(0.364) NULL DAAM1 23002 genome.wustl.edu 37 14 59820655 59820655 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014992.1 +1 reviewed p.V787M 1.000 49 0% 51 9.8% 6 0% possibly_damaging(0.76) tolerated(0.18) neutral(0.337) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) SYNE2 23224 genome.wustl.edu 37 14 64532165 64532165 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_182914.2 +1 reviewed p.L3410F 0.064 136 0% 84 34.5% 1 0% probably_damaging(0.996) - - superfamily_4_helix_cytokine GPHN 10243 genome.wustl.edu 37 14 67578599 67578599 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_020806.4 +1 reviewed p.R479* 0.998 71 0% 97 36.1% 10 0% - - - HMMPfam_MoeA_N,superfamily_MoeA_N LIN52 91750 genome.wustl.edu 37 14 74564539 74564539 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001024674.2 +1 validated p.R63C 1.000 60 0% 43 11.6% 2 100% benign(0.03) deleterious(0.03) neutral(0.366) HMMPfam_Ret_tiss TTC7B 145567 genome.wustl.edu 37 14 91110424 91110424 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001010854.1 -1 provisional p.D573 1.000 286 0% 260 10.8% 7 14.2% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like HHIPL1 84439 genome.wustl.edu 37 14 100126628 100126628 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001127258.1 +1 validated p.P463S 1.000 37 0% 26 50% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Soluble quinoprotein glucose dehydrogenase DLK1 8788 genome.wustl.edu 37 14 101200592 101200592 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_003836.5 +1 reviewed p.A171T 0.000 68 0% 41 17.1% 0 - benign(0) tolerated(0.63) neutral(0.004) superfamily_EGF/Laminin IGHA1 3493 genome.wustl.edu 37 14 106173713 106173713 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000390547 -1 known p.P285H 0.168 10 0% 10 40% 683 3.2% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 LOC283685 283685 genome.wustl.edu 37 15 23685004 23685005 + In_Frame_Ins INS - - CAT rs34879341 byCluster;by1000genomes TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 XM_002343322.1 -1 model p.724in_frame_insM 0.000:0.001 - - - - - - - - - NULL RYR3 6263 genome.wustl.edu 37 15 34133056 34133056 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001036.3 +1 validated p.E4337K 0.995 115 0% 94 19.1% 0 - benign(0.006) - - HMMPfam_RR_TM4-6 C15orf52 388115 genome.wustl.edu 37 15 40630791 40630791 + Frame_Shift_Del DEL C C - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_207380.2 -1 validated p.R197fs 0.393 - - - - - - - - - NULL NDUFAF1 51103 genome.wustl.edu 37 15 41688965 41688965 + Missense_Mutation SNP T T G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_016013.2 -1 validated p.K98T 1.000 158 0% 159 34% 25 28% probably_damaging(0.977) deleterious(0) deleterious(0.863) NULL PLA2G4D 283748 genome.wustl.edu 37 15 42379524 42379524 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_178034.3 -1 validated p.R77C 0.232 165 0% 81 22.2% 0 - benign(0.002) tolerated(0.1) neutral(0.286) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TTBK2 146057 genome.wustl.edu 37 15 43093592 43093592 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000263802 -1 known p.R531C 1.000 159 0% 130 47.7% 0 - unknown(0) deleterious(0) - HMMPfam_Filament TTBK2 146057 genome.wustl.edu 37 15 43109245 43109245 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_173500.3 -1 reviewed p.N196 0.985 71 0% 65 15.4% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DUOXA1 90527 genome.wustl.edu 37 15 45414402 45414402 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_144565.2 -1 provisional p.F62 1.000 23 0% 17 52.9% 8 0% - - - HMMPfam_DuoxA HCN4 10021 genome.wustl.edu 37 15 73635776 73635776 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005477.2 -1 reviewed p.R387C 1.000 57 0% 36 55.6% 1 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Ion_trans,superfamily_SSF81324 ACAN 176 genome.wustl.edu 37 15 89402170 89402170 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_013227.3 +1 reviewed p.E2003D 0.008 67 0% 30 40% 3 0% possibly_damaging(0.582) tolerated(0.15) neutral(0.441) NULL POLG 5428 genome.wustl.edu 37 15 89867427 89867427 + Missense_Mutation SNP G G C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001126131.1 -1 reviewed p.L661V 0.031 46 0% 22 59.1% 14 42.8% benign(0.291) tolerated(0.59) neutral(0.094) superfamily_SSF56672 SRRM2 23524 genome.wustl.edu 37 16 2816109 2816109 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_016333.3 +1 validated p.P1860 0.009 144 0% 86 17.4% 41 14.6% - - - NULL CREBBP 1387 genome.wustl.edu 37 16 3900321 3900321 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004380.2 -1 reviewed p.A259T 0.503 190 0% 113 41.6% 13 7.6% probably_damaging(0.962) tolerated(0.25) neutral(0.442) NULL SMG1 23049 genome.wustl.edu 37 16 18826834 18826834 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_015092.4 -1 reviewed p.R3481Q 1.000 243 0% 180 32.8% 5 60% probably_damaging(0.994) tolerated(0.63) neutral(0.456) NULL SMG1 23049 genome.wustl.edu 37 16 18890912 18890912 + Missense_Mutation SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_015092.4 -1 reviewed p.C475R 1.000 94 0% 116 22.4% 4 0% possibly_damaging(0.563) tolerated(0.37) neutral(0.211) superfamily_ARM repeat ZKSCAN2 342357 genome.wustl.edu 37 16 25251274 25251274 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001012981.4 -1 validated p.R923C 0.848 232 0% 256 11.3% 0 - probably_damaging(0.968) tolerated(1) neutral(0.410) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GTF3C1 2975 genome.wustl.edu 37 16 27499718 27499718 + Missense_Mutation SNP A A C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001520.3 -1 validated p.I1177S 0.064 237 0% 157 29.3% 14 35.7% benign(0.001) tolerated(0.33) neutral(0.024) NULL RRN3P2 653390 genome.wustl.edu 37 16 29110458 29110458 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000427965 +1 known p.W375R 0.991 81 2.5% 109 21.1% 0 - benign(0) tolerated(1) - HMMPfam_RRN3 CYLD 1540 genome.wustl.edu 37 16 50788329 50788329 + Missense_Mutation SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_015247.2 +1 reviewed p.I303V 1.000 64 0% 62 45.2% 5 20% benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_CAP_GLY,superfamily_Cap-Gly domain MMP15 4324 genome.wustl.edu 37 16 58072237 58072237 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002428.2 +1 reviewed p.R127W 1.000 56 0% 31 51.6% 35 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDH11 1009 genome.wustl.edu 37 16 64981804 64981804 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001797.2 -1 reviewed p.P698H 1.000 351 0% 247 37.2% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin_C ZFHX3 463 genome.wustl.edu 37 16 72830903 72830904 + Frame_Shift_Del DEL CT CT - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_006885.3 -1 reviewed p.R1893fs 0.999:0.991 - - - - - - - - - NULL MAF 4094 genome.wustl.edu 37 16 79632883 79632883 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005360.4 -1 reviewed p.R306H 1.000 37 0% 19 42.1% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_bZIP_Maf,HMMSmart_BRLZ,superfamily_Euk_transcr_DNA MPHOSPH6 10200 genome.wustl.edu 37 16 82185079 82185079 + Missense_Mutation SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005792.2 -1 validated p.D69Y 1.000 104 0% 101 34.7% 6 16.6% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_MPP6 DNAAF1 123872 genome.wustl.edu 37 16 84199565 84199565 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000439133 +1 known p.S95L 0.000 119 0% 158 12.7% 1 100% - - - NULL PSMB6 5694 genome.wustl.edu 37 17 4701064 4701064 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002798.1 +1 reviewed p.A130 0.558 148 0% 122 21.3% 448 17.1% - - - HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) ARHGEF15 22899 genome.wustl.edu 37 17 8222456 8222456 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_173728.2 +1 reviewed p.R722Q 1.000 86 0% 50 22% 1 0% possibly_damaging(0.932) tolerated(0.35) neutral(0.399) superfamily_SSF50729 KIAA0100 9703 genome.wustl.edu 37 17 26966630 26966630 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014680.2 -1 validated p.R349H 1.000 165 0% 82 28% 15 26.6% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL CCL8 6355 genome.wustl.edu 37 17 32646508 32646509 + Frame_Shift_Ins INS - - T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000394620 +1 known p.L6fs 0.000:0.000 - - - - - - - - - NULL ACACA 31 genome.wustl.edu 37 17 35508301 35508301 + Frame_Shift_Del DEL G G - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_198834.1 -1 reviewed p.E1832fs 0.999 - - - - - - - - - HMMPfam_Carboxyl_trans,superfamily_SSF52096 GPR179 440435 genome.wustl.edu 37 17 36483224 36483224 + Silent SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001004334.2 -1 validated p.P2076 0.621 249 0% 184 14.1% 0 - - - - NULL KRT26 353288 genome.wustl.edu 37 17 38928088 38928088 + Missense_Mutation SNP C C T rs185320223 by1000genomes TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_181539.4 -1 reviewed p.R93H 1.000 278 0% 172 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament WNK4 65266 genome.wustl.edu 37 17 40940805 40940805 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_032387.4 +1 reviewed p.A716V 1.000 95 0% 52 38.5% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL NMT1 4836 genome.wustl.edu 37 17 43182276 43182276 + Missense_Mutation SNP T T A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_021079.3 +1 provisional p.F461Y 1.000 42 0% 32 15.6% 48 4.1% possibly_damaging(0.54) deleterious(0.04) deleterious(0.532) HMMPfam_NMT_C,superfamily_Acyl-CoA N-acyltransferases (Nat) ARHGAP27 201176 genome.wustl.edu 37 17 43481968 43481968 + Missense_Mutation SNP T T G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_199282.2 -1 validated p.Q102P 1.000 31 0% 17 35.3% 2 0% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMSmart_SM00456 C17orf57 124989 genome.wustl.edu 37 17 45479510 45479510 + Missense_Mutation SNP T T A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_152347.3 +1 provisional p.V653E 0.212 77 0% 68 36.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_EF-hand ACE 1636 genome.wustl.edu 37 17 61560399 61560399 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_000789.2 +1 reviewed p.I451T 1.000 102 0% 41 24.4% 4 25% benign(0.049) deleterious(0.02) neutral(0.386) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" CSHL1 1444 genome.wustl.edu 37 17 61987683 61987683 + Silent SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_022579.1 -1 reviewed p.L104 0.371 105 0% 54 16.7% 0 - - - - HMMPfam_Hormone_1,superfamily_4-helical cytokines CDC42EP4 23580 genome.wustl.edu 37 17 71282169 71282169 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_012121.4 -1 reviewed p.A157 0.000 65 0% 33 18.2% 37 24.3% - - - NULL SRP68 6730 genome.wustl.edu 37 17 74068540 74068540 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014230.2 -1 reviewed p.G11 0.614 5 0.000 15 0.333 0 - - - - NULL SEC14L1 6397 genome.wustl.edu 37 17 75190787 75190787 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001039573.2 +1 reviewed p.R168H 0.175 142 0% 115 19.1% 48 2% benign(0.003) tolerated(0.06) neutral(0.323) HMMPfam_PRELI SEPT9 10801 genome.wustl.edu 37 17 75398442 75398442 + Silent SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001113491.1 +1 reviewed p.G126 0.983 19 0% 18 27.8% 109 13.7% - - - NULL RALBP1 10928 genome.wustl.edu 37 18 9524624 9524624 + Silent SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_006788.3 +1 validated p.T362 0.964 67 0% 41 34.1% 16 37.5% - - - HMMSmart_RhoGAP,superfamily_Rho_GAP MOCOS 55034 genome.wustl.edu 37 18 33846761 33846761 + Missense_Mutation SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_017947.2 +1 validated p.T820N 0.999 79 0% 74 39.2% 8 75% possibly_damaging(0.602) deleterious(0.01) deleterious(0.614) HMMPfam_MOSC,superfamily_PK beta-barrel domain-like MEX3C 51320 genome.wustl.edu 37 18 48702835 48702835 + Silent SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_016626.4 -1 reviewed p.P622 1.000 265 0% 226 39.8% 21 14.2% - - - HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 CDH7 1005 genome.wustl.edu 37 18 63489473 63489473 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004361.2 +1 reviewed p.R261H 1.000 197 0% 150 46% 0 - possibly_damaging(0.473) tolerated(0.09) neutral(0.453) superfamily_Cadherin-like CYP4F22 126410 genome.wustl.edu 37 19 15651365 15651365 + Missense_Mutation SNP C C T rs188702643 by1000genomes TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_173483.3 +1 reviewed p.A259V 0.003 97 0% 90 11.1% 0 - benign(0.286) deleterious(0.01) deleterious(0.494) HMMPfam_p450,superfamily_Cytochrome_P450 DDX49 54555 genome.wustl.edu 37 19 19032667 19032667 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_019070.4 +1 validated p.A114V 0.993 40 0% 33 12.1% 55 10.9% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 ZNF536 9745 genome.wustl.edu 37 19 31039268 31039268 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014717.1 +1 provisional p.F914 1.000 251 0% 176 38.6% 0 - - - - NULL TSHZ3 57616 genome.wustl.edu 37 19 31768041 31768041 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_020856.2 -1 validated p.T886 0.197 56 0% 36 33.3% 2 0% - - - superfamily_Homeodomain_like KIAA0355 9710 genome.wustl.edu 37 19 34791421 34791421 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014686.3 +1 validated p.R15W 1.000 63 0% 43 34.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ALKBH6 84964 genome.wustl.edu 37 19 36503972 36503974 + In_Frame_Del DEL TAG TAG - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 TAG TAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_032878.3 -1 validated p.Y53in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL WDR62 284403 genome.wustl.edu 37 19 36558745 36558745 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001083961.1 +1 validated p.P239S 1.000 33 0% 26 23.1% 2 0% possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) superfamily_WD40 repeat-like RYR1 6261 genome.wustl.edu 37 19 38954151 38954151 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_000540.2 +1 reviewed p.G889D 1.000 42 0% 33 15.2% 0 - probably_damaging(1) - - HMMPfam_RyR RYR1 6261 genome.wustl.edu 37 19 39002727 39002727 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_000540.2 +1 reviewed p.A3063V 0.995 72 0% 28 21.4% 0 - possibly_damaging(0.546) - - NULL PPP1R15A 23645 genome.wustl.edu 37 19 49379123 49379134 + In_Frame_Del DEL CCTTCGTCCCCA CCTTCGTCCCCA - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 CCTTCGTCCCCA CCTTCGTCCCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_014330.3 +1 validated p.PSSP640in_frame_del 0.001:0.002:0.001:0.001:0.000:0.000:0.000:0.000:0.001:0.002:0.002:0.000 - - - - - - - - - NULL TRPM4 54795 genome.wustl.edu 37 19 49713495 49713495 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_017636.2 +1 provisional p.S1054N 1.000 67 0% 66 18.2% 131 21.3% probably_damaging(0.987) tolerated(0.64) neutral(0.440) NULL CD37 951 genome.wustl.edu 37 19 49843516 49843516 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001774.2 +1 reviewed p.F259 1.000 64 0% 67 14.9% 27 0% - - - HMMPfam_Tetraspannin MYBPC2 4606 genome.wustl.edu 37 19 50957351 50957351 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004533.3 +1 validated p.A608 0.002 35 0% 33 12.1% 6 0% - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 ENSG00000171101 0 genome.wustl.edu 37 19 51671578 51671578 + Silent SNP C C T rs180764299 by1000genomes TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000341811 +1 known p.P193 0.001 98 1% 44 40.9% 0 - - - - superfamily_SSF48726 CEACAM18 729767 genome.wustl.edu 37 19 51983768 51983768 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001080405.1 +1 provisional p.P139 0.000 46 0% 63 39.7% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin SIGLEC12 89858 genome.wustl.edu 37 19 52001407 52001407 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_053003.2 -1 reviewed p.Q424* 0.000 90 0% 56 37.5% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ZCCHC3 85364 genome.wustl.edu 37 20 279029 279029 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000382352 +1 known p.E268* 1.000 63 0% 52 11.5% 35 20% - - - NULL TGM3 7053 genome.wustl.edu 37 20 2290954 2290954 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_003245.3 +1 reviewed p.A104 0.938 238 0% 191 13.1% 2 0% - - - HMMPfam_Transglut_N,superfamily_E set domains JAG1 182 genome.wustl.edu 37 20 10633170 10633170 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_000214.2 -1 reviewed p.E278* 1.000 29 0% 23 43.5% 7 0% - - - HMMSmart_EGF FOXA2 3170 genome.wustl.edu 37 20 22563381 22563402 + Frame_Shift_Del DEL GCGGCTTTGCGTGCGTGTAGCT GCGGCTTTGCGTGCGTGTAGCT - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 GCGGCTTTGCGTGCGTGTAGCT GCGGCTTTGCGTGCGTGTAGCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_021784.4 -1 reviewed p.S160fs 1.000:0.903:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_Fork_head_N NINL 22981 genome.wustl.edu 37 20 25481579 25481579 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_025176.4 -1 validated p.R310H 0.352 39 0% 25 52% 7 28.5% benign(0.276) tolerated(0.12) neutral(0.290) NULL XKR7 343702 genome.wustl.edu 37 20 30585106 30585106 + Missense_Mutation SNP G G A rs187823882 by1000genomes TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001011718.1 +1 provisional p.R529H 0.925 55 0% 27 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYH7B 57644 genome.wustl.edu 37 20 33567219 33567219 + Frame_Shift_Del DEL G G - novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_020884.3 +1 reviewed p.E82fs 1.000 - - - - - - - - - HMMPfam_Myosin_N ADIG 149685 genome.wustl.edu 37 20 37209951 37209951 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001018082.1 +1 validated p.W20R 0.997 98 0% 54 44.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KCNG1 3755 genome.wustl.edu 37 20 49626862 49626862 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002237.3 -1 reviewed p.P5L 1.000 34 0% 24 45.8% 8 37.5% possibly_damaging(0.818) deleterious(0.02) deleterious(0.692) NULL IFNGR2 3460 genome.wustl.edu 37 21 34793829 34793829 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005534.3 +1 reviewed p.G83 0.000 129 0% 114 28.9% 128 21% - - - superfamily_Fibronectin type III PCNT 5116 genome.wustl.edu 37 21 47836133 47836133 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_006031.5 +1 reviewed p.A2101T 0.002 71 0% 43 14% 4 0% possibly_damaging(0.67) tolerated(0.15) deleterious(0.478) NULL HIRA 7290 genome.wustl.edu 37 22 19365551 19365551 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_003325.3 -1 reviewed p.S485L 1.000 98 0% 49 20.4% 11 27.2% benign(0.001) tolerated(0.24) neutral(0.037) NULL ENSG00000211459 0 genome.wustl.edu 37 MT 1200 1200 + RNA SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000389680 +1 known NULL NULL 16 0% 18 94.4% 1109 86.1% - - - - ZBED1 9189 genome.wustl.edu 37 X 2408658 2408658 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004729.3 -1 reviewed p.A35T 1.000 100 0% 69 30.4% 27 37% benign(0.195) tolerated(0.34) neutral(0.041) HMMPfam_zf-BED,HMMSmart_ZnF_BED DCAF8L2 347442 genome.wustl.edu 37 X 27765978 27765978 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001136533.1 +1 provisional p.H322 0.999 83 0% 105 17.1% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like MAGEB10 139422 genome.wustl.edu 37 X 27840126 27840126 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_182506.3 +1 reviewed p.G235R 0.007 94 0% 81 54.3% 0 - possibly_damaging(0.883) deleterious(0) deleterious(0.789) HMMPfam_MAGE PPP1R3F 89801 genome.wustl.edu 37 X 49137915 49137915 + Missense_Mutation SNP T T G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_033215.4 +1 reviewed p.F351V 0.002 63 0% 43 18.6% 44 11.3% benign(0) tolerated(0.25) neutral(0.037) NULL AKAP4 8852 genome.wustl.edu 37 X 49958224 49958224 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_003886.2 -1 reviewed p.S380 0.966 237 0% 189 38.6% 0 - - - - HMMPfam_AKAP_110,HMMSmart_SM00807 NUDT10 170685 genome.wustl.edu 37 X 51076095 51076095 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000356450 +1 known p.T93M 1.000 222 0% 126 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NUDIX,superfamily_Nudix ITGB1BP2 26548 genome.wustl.edu 37 X 70523534 70523534 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_012278.1 +1 provisional p.R176* 0.952 186 0% 142 51.4% 0 - - - - HMMPfam_CHORD TAF1 6872 genome.wustl.edu 37 X 70613299 70613299 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_004606.3 +1 reviewed p.C1087F 1.000 208 0% 130 36.9% 8 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PHKA1 5255 genome.wustl.edu 37 X 71933701 71933701 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_002637.3 -1 reviewed p.R10W 0.996 83 0% 62 46.8% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases LPAR4 2846 genome.wustl.edu 37 X 78010457 78010457 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_005296.2 +1 reviewed p.C31R 1.000 416 0.2% 368 47% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like DIAPH2 1730 genome.wustl.edu 37 X 96212988 96212988 + Silent SNP A A C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_006729.4 +1 reviewed p.P592 0.992 77 0% 53 26.4% 2 0% - - - NULL COL4A6 1288 genome.wustl.edu 37 X 107408207 107408207 + Silent SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001847.2 -1 reviewed p.T1291 0.682 57 0% 30 50% 1 0% - - - HMMPfam_Collagen AKAP14 158798 genome.wustl.edu 37 X 119054555 119054555 + Silent SNP A A G novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_178813.5 +1 reviewed p.L193 0.008 106 0% 127 35.4% 6 100% - - - NULL GLUD2 2747 genome.wustl.edu 37 X 120181778 120181778 + Silent SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_012084.3 +1 reviewed p.I80 0.998 46 0% 35 54.3% 1 0% - - - superfamily_SSF53223 GRIA3 2892 genome.wustl.edu 37 X 122599629 122599629 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 ENST00000264357 +1 known p.G810V 1.000 124 0% 123 46.3% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_Lig_chan DCAF12L2 340578 genome.wustl.edu 37 X 125299369 125299369 + Missense_Mutation SNP G G C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001013628.2 -1 reviewed p.P180R 1.000 50 0% 34 32.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like ENOX2 10495 genome.wustl.edu 37 X 129837115 129837115 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_182314.1 -1 reviewed p.A55T 1.000 224 0% 208 34.1% 5 0% benign(0) tolerated(0.28) neutral(0.032) NULL DDX26B 203522 genome.wustl.edu 37 X 134713749 134713749 + Missense_Mutation SNP T T C novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_182540.4 +1 validated p.M682T 0.947 268 0% 217 41% 4 0% benign(0) tolerated(0.5) neutral(0.010) NULL CD99L2 83692 genome.wustl.edu 37 X 149937520 149937520 + Missense_Mutation SNP G G T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_031462.3 -1 reviewed p.P259Q 0.000 36 0% 14 50% 19 0% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL VMA21 203547 genome.wustl.edu 37 X 150573426 150573426 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001017980.3 +1 reviewed p.A68T 1.000 150 0% 96 42.7% 19 0% possibly_damaging(0.799) deleterious(0.02) deleterious(0.684) HMMPfam_VMA21 ZNF275 10838 genome.wustl.edu 37 X 152612474 152612474 + Missense_Mutation SNP C C T novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_001080485.2 +1 validated p.R111W 0.251 154 0% 107 36.4% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FUNDC2 65991 genome.wustl.edu 37 X 154282910 154282910 + Missense_Mutation SNP G G A novel TCGA-A5-A0G9-01A-11W-A062-09 TCGA-A5-A0G9-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9b47e36f-34de-40a4-bb45-505c7c2dede7 cac37549-d384-4344-8658-fdfb56dd7524 NM_023934.3 +1 validated p.G178E 1.000 458 0% 445 30.6% 68 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_FUN14