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 KLHL17 339451 genome.wustl.edu 37 1 897741 897741 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198317.1 +1 provisional p.E240K 1.000 71 0% 71 31% 8 12.5% benign(0.026) tolerated(0.6) neutral(0.005) HMMPfam_BACK AGRN 375790 genome.wustl.edu 37 1 984947 984947 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198576.2 +1 validated p.A1506T 1.000 53 0% 42 19% 246 50.8% benign(0.001) tolerated(0.17) neutral(0.059) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 ACAP3 116983 genome.wustl.edu 37 1 1237374 1237374 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030649.2 -1 validated p.V111A 0.972 56 0% 78 33.3% 7 42.8% possibly_damaging(0.529) deleterious(0.03) deleterious(0.543) NULL ATAD3A 55210 genome.wustl.edu 37 1 1469362 1469362 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000339113 +1 known p.R543C 0.080 79 0% 80 26.3% 108 50.9% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CDK11A 728642 genome.wustl.edu 37 1 1638927 1638927 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024011.2 -1 reviewed p.G389D 1.000 231 0% 299 33.1% 44 56.8% unknown(0) tolerated(0.36) - NULL NADK 65220 genome.wustl.edu 37 1 1686839 1686839 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_023018.3 -1 validated p.Q221R 1.000 125 0% 206 35% 83 56.6% benign(0.054) tolerated(0.39) neutral(0.019) HMMPfam_NAD_kinase,superfamily_NAD kinase (Pfam 01513) C1orf86 199990 genome.wustl.edu 37 1 2125559 2125559 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182533.2 -1 validated p.R26C 0.000 24 0% 23 34.8% 24 45.8% unknown(0) deleterious(0.04) - NULL ACTRT2 140625 genome.wustl.edu 37 1 2938955 2938955 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080431.4 +1 reviewed p.P235 0.694 27 0% 15 46.7% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain PRDM16 63976 genome.wustl.edu 37 1 3328186 3328186 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022114.3 +1 reviewed p.S475 0.843 59 0% 49 24.5% 0 - - - - NULL WRAP73 49856 genome.wustl.edu 37 1 3551827 3551827 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017818.3 -1 reviewed p.R212Q 1.000 127 0% 146 27.4% 30 30% probably_damaging(0.997) tolerated(0.2) deleterious(0.515) HMMSmart_SM00320,superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase TNFRSF25 8718 genome.wustl.edu 37 1 6521690 6521690 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_148965.1 -1 reviewed p.T362M 0.997 12 0% 18 44.4% 35 42.8% probably_damaging(0.967) tolerated(0.25) neutral(0.446) HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like ENO1 2023 genome.wustl.edu 37 1 8924010 8924010 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001428.2 -1 reviewed p.S336F 1.000 257 0% 337 30.3% 3892 48% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_Enolase_C,superfamily_Enolase C-terminal domain-like CASZ1 54897 genome.wustl.edu 37 1 10710794 10710794 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001079843.1 -1 validated p.H945 1.000 249 0% 344 32.6% 10 40% - - - NULL CASZ1 54897 genome.wustl.edu 37 1 10725391 10725391 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001079843.1 -1 validated p.R85Q 1.000 65 0% 64 32.8% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SRM 6723 genome.wustl.edu 37 1 11118932 11118932 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003132.2 -1 validated p.G102 0.034 25 0% 30 26.7% 224 50.4% - - - HMMPfam_Spermine_synth,PatternScan_SPERMIDINE_SYNTHASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases TNFRSF1B 7133 genome.wustl.edu 37 1 12248883 12248883 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001066.2 +1 reviewed p.G37R 0.000 90 0% 101 39.6% 5 0% probably_damaging(0.974) deleterious(0) deleterious(0.861) superfamily_TNF receptor-like SPEN 23013 genome.wustl.edu 37 1 16265349 16265349 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015001.2 +1 reviewed p.V3614D 0.982 113 0% 153 27.5% 54 51.8% unknown(0) deleterious(0) - HMMPfam_SPOC,superfamily_SPOC-like ZBTB17 7709 genome.wustl.edu 37 1 16271518 16271518 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003443.2 -1 validated p.G281S 0.005 168 0% 221 30.8% 19 57.8% probably_damaging(0.998) tolerated(0.26) deleterious(0.508) NULL ATP13A2 23400 genome.wustl.edu 37 1 17318282 17318282 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022089.2 -1 reviewed p.T733M 0.004 68 0% 82 30.5% 90 51.1% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M RCC2 55920 genome.wustl.edu 37 1 17748721 17748721 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001136204.1 -1 validated p.D241V 1.000 154 0% 230 29.1% 102 50.9% benign(0.085) tolerated(0.23) neutral(0.048) superfamily_RCC1/BLIP-II IGSF21 84966 genome.wustl.edu 37 1 18618480 18618480 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032880.3 +1 validated p.R102G 1.000 83 0% 105 16.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 UBR4 23352 genome.wustl.edu 37 1 19401357 19401357 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020765.2 -1 validated p.F5174Y 1.000 220 0% 298 32.9% 194 44.3% probably_damaging(0.99) tolerated(0.44) neutral(0.454) NULL UBR4 23352 genome.wustl.edu 37 1 19431649 19431649 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020765.2 -1 validated p.A4180T 1.000 95 0% 137 29.9% 36 44.4% probably_damaging(0.959) deleterious(0.04) deleterious(0.752) superfamily_ARM repeat AKR7L 246181 genome.wustl.edu 37 1 19596986 19596986 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_201252.3 -1 reviewed p.L156I 1.000 138 0% 239 33.9% 1 0% benign(0.016) tolerated(0.74) neutral(0.002) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase EIF4G3 8672 genome.wustl.edu 37 1 21167432 21167432 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003760.3 -1 validated p.S1270R 1.000 226 0.4% 269 29.7% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MA3,HMMSmart_SM00544 ALPL 249 genome.wustl.edu 37 1 21903101 21903101 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000478.4 +1 reviewed p.G426S 0.996 229 0% 306 30.4% 0 - benign(0.031) tolerated(0.06) neutral(0.324) HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,superfamily_Alkaline_phosphatase_core HSPG2 3339 genome.wustl.edu 37 1 22163295 22163295 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000374695 -1 known p.R3452Q 1.000 54 0% 51 35.3% 35 8.5% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_ig,superfamily_Immunoglobulin HSPG2 3339 genome.wustl.edu 37 1 22173921 22173921 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000374695 -1 known p.R2697Q 0.998 95 0% 103 36.9% 37 67.5% probably_damaging(0.96) tolerated(0.16) neutral(0.463) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_ig,superfamily_Immunoglobulin C1QB 713 genome.wustl.edu 37 1 22985972 22985972 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000491.3 +1 reviewed p.G8D 0.001 84 0% 121 29.8% 41 0% possibly_damaging(0.612) deleterious(0.05) deleterious(0.557) NULL MYOM3 127294 genome.wustl.edu 37 1 24407871 24407871 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152372.3 -1 validated p.S786P 1.000 60 1.7% 55 29.1% 0 - possibly_damaging(0.924) deleterious(0) deleterious(0.818) HMMPfam_fn3,superfamily_Fibronectin type III NIPAL3 57185 genome.wustl.edu 37 1 24776053 24776053 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020448.4 +1 validated p.H159 0.549 92 0% 104 30.8% 37 59.4% - - - HMMPfam_DUF803 RCAN3 11123 genome.wustl.edu 37 1 24859691 24859691 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013441.2 +1 validated p.A163V 0.997 318 0.3% 374 31.6% 21 66.6% benign(0.408) deleterious(0.03) deleterious(0.496) HMMPfam_Calcipressin RPS6KA1 6195 genome.wustl.edu 37 1 26873396 26873396 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001006665.1 +1 reviewed p.H58 0.372 117 0% 169 33.1% 51 45% unknown(0) - - superfamily_Kinase_like ARID1A 8289 genome.wustl.edu 37 1 27107096 27107096 + Missense_Mutation SNP G G C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006015.4 +1 reviewed p.R2236P 1.000 45 0% 74 44.6% 83 46.9% probably_damaging(0.996) tolerated(0.22) deleterious(0.504) NULL C1orf172 126695 genome.wustl.edu 37 1 27277937 27277937 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152365.2 -1 validated p.R312H 1.000 54 0% 57 29.8% 42 42.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LOC646567 646567 genome.wustl.edu 37 1 27312703 27312703 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_929503.3 -1 model p.T43 0.577 133 0% 199 36.7% 0 - - - - HMMPfam_DUF2055 PTAFR 5724 genome.wustl.edu 37 1 28476869 28476869 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000952.4 -1 validated p.R222C 0.379 128 0% 249 27.7% 4 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RCC1 1104 genome.wustl.edu 37 1 28864439 28864439 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001048194.1 +1 validated p.L427 1.000 153 0% 198 31.3% 86 44.1% - - - HMMPfam_RCC1,superfamily_RCC1/BLIP-II TAF12 6883 genome.wustl.edu 37 1 28931896 28931896 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001135218.1 -1 reviewed p.E146 0.997 411 0% 578 32.7% 52 44.2% - - - NULL COL16A1 1307 genome.wustl.edu 37 1 32162879 32162879 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001856.3 -1 reviewed p.I227N 1.000 117 0% 92 32.6% 2 0% unknown(0) deleterious(0) - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases FNDC5 252995 genome.wustl.edu 37 1 33333903 33333903 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153756.2 -1 validated p.T24 0.032 171 0% 209 27.8% 1 100% - - - HMMPfam_fn3,superfamily_FN_III-like HPCA 3208 genome.wustl.edu 37 1 33354832 33354832 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002143.2 +1 reviewed p.D111 0.410 62 0% 97 26.8% 0 - - - - HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand CSMD2 114784 genome.wustl.edu 37 1 33985150 33985150 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052896.3 -1 validated p.F3478L 1.000 188 0% 317 27.4% 0 - possibly_damaging(0.58) tolerated(0.27) neutral(0.233) NULL CSMD2 114784 genome.wustl.edu 37 1 34042917 34042917 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052896.3 -1 validated p.E2521K 0.976 129 0% 161 26.1% 0 - benign(0.253) tolerated(0.5) neutral(0.036) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34554768 34554768 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052896.3 -1 validated p.G32S 0.995 189 0% 256 30.9% 0 - benign(0.037) tolerated(0.22) neutral(0.044) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain GJB4 127534 genome.wustl.edu 37 1 35227330 35227330 + Missense_Mutation SNP C C G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153212.2 +1 reviewed p.P159A 1.000 64 0% 60 30% 66 50% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Connexin_CCC LOC100287174 100287174 genome.wustl.edu 37 1 35250735 35250735 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002342072.1 -1 model p.V167M 0.998 295 0.3% 359 31.8% 145 55.8% - - - NULL EIF2C1 26523 genome.wustl.edu 37 1 36379808 36379808 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012199.2 +1 reviewed p.V589A 1.000 163 0% 188 25.5% 5 60% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_Piwi,superfamily_Ribonuclease H-like ADPRHL2 54936 genome.wustl.edu 37 1 36557678 36557678 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017825.2 +1 reviewed p.S228 0.000 512 0% 912 32% 72 56.9% - - - HMMPfam_ADP_ribosyl_GH,superfamily_Ribosyl_crysJ1 MAP7D1 55700 genome.wustl.edu 37 1 36636620 36636620 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018067.3 +1 provisional p.D32G 1.000 45 0% 66 31.8% 26 26.9% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL CSF3R 1441 genome.wustl.edu 37 1 36937171 36937171 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_156039.2 -1 reviewed p.A383V 0.000 60 0% 73 27.4% 2 0% benign(0.001) tolerated(0.38) neutral(0.018) HMMSmart_FN3,superfamily_FN_III-like EPHA10 284656 genome.wustl.edu 37 1 38227478 38227478 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001099439.1 -1 validated p.R150H 0.952 46 0% 53 34% 0 - possibly_damaging(0.943) tolerated(0.49) neutral(0.398) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like FHL3 2275 genome.wustl.edu 37 1 38463734 38463734 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004468.3 -1 validated p.Q134 1.000 42 0% 55 43.6% 38 55.2% - - - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 MFSD2A 84879 genome.wustl.edu 37 1 40432533 40432533 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001136493.1 +1 validated p.R299W 0.983 131 0% 142 33.1% 7 14.2% benign(0.305) deleterious(0.02) deleterious(0.478) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RLF 6018 genome.wustl.edu 37 1 40697287 40697287 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012421.3 +1 validated p.T349M 1.000 595 0% 623 26% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZMPSTE24 10269 genome.wustl.edu 37 1 40737590 40737590 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005857.3 +1 reviewed p.Y218H 1.000 346 0% 436 31.9% 25 28% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SLFNL1 200172 genome.wustl.edu 37 1 41486130 41486130 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144990.3 -1 validated p.R68Q 0.986 33 0% 29 24.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HIVEP3 59269 genome.wustl.edu 37 1 41976655 41976655 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024503.3 -1 validated p.S2230G 1.000 61 0% 64 23.4% 1 0% possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL HIVEP3 59269 genome.wustl.edu 37 1 41990569 41990569 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024503.3 -1 validated p.N1740 1.000 256 0% 284 28.2% 0 - - - - NULL SZT2 23334 genome.wustl.edu 37 1 43900083 43900083 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015284.2 +1 predicted p.P1045L 0.767 75 0% 78 33.3% 0 - benign(0.002) tolerated(0.15) neutral(0.241) NULL SZT2 23334 genome.wustl.edu 37 1 43909406 43909406 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015284.2 +1 predicted p.Q2023* 1.000 252 0% 303 30.7% 6 16.6% - - - NULL PTPRF 5792 genome.wustl.edu 37 1 44084835 44084835 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000414879 +1 known p.Q961* 1.000 54 0% 59 39% 104 42.3% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II ERI3 79033 genome.wustl.edu 37 1 44804931 44804931 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024066.1 -1 validated p.S92L 0.996 145 0% 123 32.5% 25 16% benign(0) deleterious(0) neutral(0.445) NULL C1orf228 339541 genome.wustl.edu 37 1 45191044 45191044 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145636.1 +1 validated p.H431R 0.000 63 0% 82 28% 4 0% benign(0.001) tolerated(0.17) neutral(0.059) NULL CCDC17 149483 genome.wustl.edu 37 1 46089487 46089487 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001114938.1 -1 provisional p.R32H 1.000 189 0% 272 18.8% 0 - benign(0.079) tolerated(0.16) neutral(0.065) NULL AGBL4 84871 genome.wustl.edu 37 1 49052678 49052678 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032785.3 -1 validated p.A422V 1.000 69 0% 66 22.7% 0 - possibly_damaging(0.564) deleterious(0.02) deleterious(0.576) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases KTI12 112970 genome.wustl.edu 37 1 52498798 52498798 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138417.2 -1 validated p.L212 0.014 37 0% 35 31.4% 5 60% - - - HMMPfam_KTI12,superfamily_SSF52540 ORC1 4998 genome.wustl.edu 37 1 52854916 52854916 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004153.2 -1 reviewed p.T387N 0.997 340 0% 429 33.3% 3 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PRPF38A 84950 genome.wustl.edu 37 1 52880433 52880433 + Splice_Site SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032864.3 +1 validated e8-1 1.000 77 0% 89 30.3% 1 0% - - - - DMRTB1 63948 genome.wustl.edu 37 1 53925305 53925305 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033067.1 +1 provisional p.A60D 0.000 9 0.000 14 0.500 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_DM CYB5RL 606495 genome.wustl.edu 37 1 54649860 54649860 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001031672.2 -1 provisional p.G172R 0.990 122 0% 164 29.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FAD_binding_6,superfamily_Riboflavin synthase domain-like,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain FAM151A 338094 genome.wustl.edu 37 1 55075009 55075009 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_176782.2 -1 validated p.T564A 0.938 62 0% 55 32.7% 0 - possibly_damaging(0.882) tolerated(0.76) neutral(0.345) NULL BSND 7809 genome.wustl.edu 37 1 55472947 55472947 + Splice_Site SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_057176.2 +1 reviewed e3+2 0.938 109 0% 116 34.5% 0 - - - - - USP24 23358 genome.wustl.edu 37 1 55607379 55607379 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015306.2 -1 validated p.P727L 1.000 355 0% 332 29.5% 8 50% possibly_damaging(0.925) tolerated(0.1) deleterious(0.660) NULL PPAP2B 8613 genome.wustl.edu 37 1 56990067 56990067 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003713.3 -1 reviewed p.R153C 1.000 157 0% 117 35% 18 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase NFIA 4774 genome.wustl.edu 37 1 61869859 61869859 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145512.1 +1 reviewed p.A432T 1.000 340 0% 397 23.9% 4 50% possibly_damaging(0.85) tolerated(0.86) neutral(0.328) HMMPfam_CTF_NFI KANK4 163782 genome.wustl.edu 37 1 62737149 62737149 + Splice_Site SNP C C G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181712.4 -1 validated e3+1 1.000 281 0% 413 18.9% 0 - - - - - KANK4 163782 genome.wustl.edu 37 1 62740328 62740328 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181712.4 -1 validated p.L150F 0.006 46 0% 72 44.4% 0 - possibly_damaging(0.6) tolerated(0.06) deleterious(0.530) NULL DOCK7 85440 genome.wustl.edu 37 1 63009348 63009348 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000454575 -1 known p.G148R 1.000 358 0.3% 354 32.8% 5 60% - - - NULL INSL5 10022 genome.wustl.edu 37 1 67266795 67266795 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005478.3 -1 reviewed p.V37A 0.010 176 0% 193 29.5% 0 - possibly_damaging(0.711) tolerated(0.08) deleterious(0.557) HMMSmart_IlGF,superfamily_Insulin-like MIER1 57708 genome.wustl.edu 37 1 67436568 67436568 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020948.3 +1 validated p.A255T 1.000 194 0% 220 32.7% 3 33.3% benign(0.097) tolerated(0.31) neutral(0.035) HMMPfam_ELM2 DEPDC1 55635 genome.wustl.edu 37 1 68947163 68947163 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001114120.1 -1 validated p.D632A 1.000 376 0% 323 31.3% 9 33.3% probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_Rho_GAP DEPDC1 55635 genome.wustl.edu 37 1 68955225 68955225 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001114120.1 -1 validated p.I127M 0.688 337 0% 309 32.4% 4 25% benign(0.025) tolerated(0.16) neutral(0.060) superfamily_SSF46785 LRRC7 57554 genome.wustl.edu 37 1 70300475 70300475 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020794.2 +1 validated p.G133 0.998 557 0% 404 29.7% 0 - - - - superfamily_L domain-like PTGFR 5737 genome.wustl.edu 37 1 78958571 78958571 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000959.3 +1 reviewed p.I48N 1.000 190 0% 232 34.1% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_SSF81321 IFI44L 10964 genome.wustl.edu 37 1 79106802 79106802 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006820.2 +1 validated p.S382N 0.009 324 0% 256 36.3% 58 39.6% benign(0.027) tolerated(0.35) neutral(0.022) NULL ZNHIT6 54680 genome.wustl.edu 37 1 86167899 86167899 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017953.3 -1 validated p.L320 1.000 252 0% 239 27.6% 5 0% - - - NULL COL24A1 255631 genome.wustl.edu 37 1 86246925 86246925 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152890.5 -1 validated p.I1439T 1.000 218 0% 177 22.6% 0 - possibly_damaging(0.932) tolerated(0.56) neutral(0.385) HMMPfam_Collagen COL24A1 255631 genome.wustl.edu 37 1 86554870 86554870 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152890.5 -1 validated p.M565T 0.391 142 0% 148 28.4% 0 - benign(0.018) tolerated(0.61) neutral(0.005) HMMPfam_Collagen PKN2 5586 genome.wustl.edu 37 1 89237366 89237366 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000436111 +1 known p.I45V 1.000 138 0% 176 29% 14 57.1% - - - HMMPfam_HR1,HMMSmart_SM00742,superfamily_HR1 repeat BTBD8 284697 genome.wustl.edu 37 1 92612780 92612780 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_183242.3 +1 validated p.I325T 1.000 608 0.2% 545 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C1orf146 388649 genome.wustl.edu 37 1 92710356 92710356 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001012425.1 +1 validated p.R117Q 1.000 208 1% 244 27.5% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL CDC14A 8556 genome.wustl.edu 37 1 100843126 100843126 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033312.2 +1 reviewed p.L55 1.000 338 0.3% 382 32.5% 0 - - - - superfamily_(Phosphotyrosine protein) phosphatases II EXTL2 2135 genome.wustl.edu 37 1 101339546 101339546 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001033025.1 -1 validated p.M315I 1.000 148 0% 107 24.3% 1 0% probably_damaging(0.99) tolerated(0.09) deleterious(0.738) HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases RNPC3 55599 genome.wustl.edu 37 1 104076396 104076396 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017619.3 +1 reviewed p.G92 1.000 335 0% 308 34.1% 5 40% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 PRMT6 55170 genome.wustl.edu 37 1 107600301 107600301 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018137.2 +1 validated p.L263F 0.602 54 0% 70 37.1% 8 25% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) superfamily_S-adenosyl-L-methionine-dependent methyltransferases VAV3 10451 genome.wustl.edu 37 1 108116790 108116790 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006113.4 -1 reviewed p.I794T 1.000 322 0.3% 465 33.3% 18 61.1% benign(0.019) tolerated(0.29) neutral(0.030) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,superfamily_SH2 domain CELSR2 1952 genome.wustl.edu 37 1 109811243 109811243 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001408.2 +1 reviewed p.N2120S 1.000 51 0% 52 34.6% 72 45.8% benign(0.047) tolerated(0.82) neutral(0.004) NULL SORT1 6272 genome.wustl.edu 37 1 109859473 109859473 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002959.4 -1 reviewed p.Q750R 1.000 544 0% 458 28.4% 54 61.1% benign(0.055) tolerated(0.41) neutral(0.018) NULL DENND2D 79961 genome.wustl.edu 37 1 111740595 111740595 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024901.3 -1 provisional p.V125I 1.000 150 0% 200 34% 28 35.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_uDENN,HMMSmart_SM00800 WNT2B 7482 genome.wustl.edu 37 1 113057648 113057648 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024494.2 +1 reviewed p.R112H 1.000 84 0% 84 28.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_wnt,HMMSmart_SM00097 LRIG2 9860 genome.wustl.edu 37 1 113636120 113636120 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014813.1 +1 provisional p.D150G 1.000 307 0% 318 29.2% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_LRR_1,superfamily_SSF52047 PTPN22 26191 genome.wustl.edu 37 1 114367766 114367766 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015967.4 -1 reviewed p.K760M 1.000 75 0% 68 23.5% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AP4B1 10717 genome.wustl.edu 37 1 114444488 114444488 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006594.2 -1 validated p.Y120H 1.000 231 0% 232 43.5% 11 27.2% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Adaptin_N,superfamily_ARM-type_fold HIPK1 204851 genome.wustl.edu 37 1 114506076 114506076 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198268.1 +1 reviewed p.A724V 1.000 70 0% 123 39.8% 7 28.5% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL TRIM33 51592 genome.wustl.edu 37 1 114940373 114940373 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015906.3 -1 reviewed p.Q1094R 1.000 386 0% 502 33.3% 11 36.3% benign(0.069) tolerated(0.29) neutral(0.034) NULL TBX15 6913 genome.wustl.edu 37 1 119427953 119427953 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152380.2 -1 reviewed p.R298Q 1.000 83 0% 106 30.2% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL RPRD2 23248 genome.wustl.edu 37 1 150390138 150390138 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015203.3 +1 validated p.K91R 1.000 525 0% 552 35.3% 10 40% benign(0.109) deleterious(0.04) neutral(0.357) HMMSmart_SM00582,HMMPfam_DUF618,superfamily_ENTH/VHS domain TARS2 80222 genome.wustl.edu 37 1 150470076 150470076 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025150.3 +1 provisional p.Q364R 0.961 131 0% 178 35.4% 11 45.4% benign(0) tolerated(0.37) neutral(0.019) HMMPfam_tRNA-synt_2b,superfamily_SSF55681 FLG 2312 genome.wustl.edu 37 1 152280451 152280451 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002016.1 -1 reviewed p.T2304I 0.000 549 0% 562 29% 0 - unknown(0) tolerated(0.1) - NULL IVL 3713 genome.wustl.edu 37 1 152882284 152882284 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005547.2 +1 reviewed p.Q4R 0.987 47 0% 57 33.3% 1 100% unknown(0) deleterious(0) - HMMPfam_Involucrin_N,PatternScan_INVOLUCRIN IVL 3713 genome.wustl.edu 37 1 152883128 152883128 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005547.2 +1 reviewed p.Y285 0.000 97 0% 153 23.5% 1 100% - - - HMMPfam_Involucrin SPRR2A 6700 genome.wustl.edu 37 1 153029150 153029150 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005988.2 -1 validated p.P21Q 0.002 210 0% 272 19.1% 1 0% unknown(0) - - NULL GATAD2B 57459 genome.wustl.edu 37 1 153785904 153785904 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020699.2 -1 validated p.R414Q 1.000 196 0% 245 29% 9 22.2% possibly_damaging(0.619) tolerated(0.35) neutral(0.236) superfamily_SSF57716 CREB3L4 148327 genome.wustl.edu 37 1 153945526 153945526 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_130898.2 +1 provisional p.K239E 1.000 250 0% 359 31.2% 10 70% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMSmart_BRLZ,superfamily_Euk_transcr_DNA,HMMPfam_bZIP_1 DCST1 149095 genome.wustl.edu 37 1 155013955 155013955 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152494.2 +1 validated p.T205M 0.000 30 0% 51 17.6% 0 - possibly_damaging(0.768) tolerated(0.15) deleterious(0.526) NULL TRIM46 80128 genome.wustl.edu 37 1 155156524 155156524 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025058.3 +1 validated p.L713R 1.000 234 0% 255 25.5% 2 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL HCN3 57657 genome.wustl.edu 37 1 155257812 155257812 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020897.1 +1 validated p.R628Q 0.997 52 0% 54 25.9% 12 58.3% benign(0.064) tolerated(0.18) neutral(0.060) NULL RUSC1 23623 genome.wustl.edu 37 1 155292373 155292373 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001105203.1 +1 validated p.P270H 0.083 234 0% 253 31.6% 2 50% benign(0.09) deleterious(0.02) neutral(0.390) NULL KIAA0907 22889 genome.wustl.edu 37 1 155883966 155883966 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014949.2 -1 predicted p.Y597 0.998 210 0% 339 33.9% 22 40.9% - - - NULL RHBG 57127 genome.wustl.edu 37 1 156339153 156339153 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020407.3 +1 reviewed p.H38R 0.836 73 0% 91 35.2% 1 100% benign(0) tolerated(0.46) neutral(0.012) HMMPfam_Ammonium_transp RHBG 57127 genome.wustl.edu 37 1 156348094 156348094 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020407.3 +1 reviewed p.G193R 1.000 57 0% 79 27.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) NES 10763 genome.wustl.edu 37 1 156640193 156640193 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006617.1 -1 reviewed p.Q1263* 0.094 71 0% 85 34.1% 6 0% - - - NULL RRNAD1 51093 genome.wustl.edu 37 1 156703831 156703831 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015997.3 +1 validated p.H223Y 0.436 194 0% 230 35.2% 10 30% possibly_damaging(0.908) tolerated(0.68) neutral(0.363) NULL KIRREL 55243 genome.wustl.edu 37 1 158059406 158059406 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018240.5 +1 validated p.L387F 0.975 113 0% 113 31% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SPTA1 6708 genome.wustl.edu 37 1 158622338 158622338 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003126.2 -1 reviewed p.I1098 0.720 384 0% 384 28.9% 3 100% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR6K3 391114 genome.wustl.edu 37 1 158687244 158687244 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005327.2 -1 validated p.V237D 0.004 194 0% 112 31.2% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_7tm_1,superfamily_SSF81321 OR6K6 128371 genome.wustl.edu 37 1 158725191 158725191 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005184.1 +1 provisional p.F196L 0.990 254 0% 294 27.9% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like VSIG8 391123 genome.wustl.edu 37 1 159825802 159825802 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001013661.1 -1 provisional p.V281A 0.607 26 0% 30 33.3% 0 - benign(0.191) tolerated(0.17) neutral(0.077) NULL TAGLN2 8407 genome.wustl.edu 37 1 159889502 159889502 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003564.1 -1 reviewed p.R102C 1.000 172 0% 193 24.4% 1213 43.5% possibly_damaging(0.853) deleterious(0.02) deleterious(0.712) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology IGSF8 93185 genome.wustl.edu 37 1 160063887 160063887 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052868.2 -1 provisional p.R173C 0.974 65 0% 64 34.4% 89 47.1% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMSmart_SM00409,superfamily_Immunoglobulin NIT1 4817 genome.wustl.edu 37 1 161090413 161090413 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005600.1 +1 provisional p.V281A 1.000 59 0% 76 46.1% 70 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Carbon-nitrogen hydrolase HSPA6 3310 genome.wustl.edu 37 1 161495521 161495521 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002155.3 +1 validated p.G358D 1.000 72 0% 73 9.6% 7 28.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_HSP70,superfamily_Actin-like ATPase domain ATF6 22926 genome.wustl.edu 37 1 161771875 161771875 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007348.2 +1 validated p.V241A 0.993 265 0% 295 30.8% 35 45.7% benign(0.354) tolerated(0.45) neutral(0.124) NULL GPR161 23432 genome.wustl.edu 37 1 168066186 168066186 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153832.1 -1 provisional p.R220H 1.000 71 0% 89 36% 4 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PRRX1 5396 genome.wustl.edu 37 1 170688905 170688905 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022716.2 +1 reviewed p.Q94* 1.000 151 0% 109 18.3% 0 - - - - HMMSmart_SM00389,superfamily_Homeodomain-like C1orf129 80133 genome.wustl.edu 37 1 170967396 170967396 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025063.2 +1 validated p.V526A 0.049 501 0% 372 31.2% 0 - benign(0.003) tolerated(0.21) neutral(0.044) NULL SLC9A11 284525 genome.wustl.edu 37 1 173494066 173494066 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_178527.3 -1 validated p.V789A 1.000 215 0% 230 31.7% 0 - benign(0.003) tolerated(0.42) neutral(0.014) NULL TNN 63923 genome.wustl.edu 37 1 175063311 175063311 + Nonsense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022093.1 +1 validated p.G504* 1.000 98 0% 141 24.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNN 63923 genome.wustl.edu 37 1 175086250 175086250 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022093.1 +1 validated p.T765 0.218 168 0.6% 202 37.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ABL2 27 genome.wustl.edu 37 1 179090839 179090839 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007314.3 -1 reviewed p.E284G 1.000 373 0% 430 32.6% 1 0% possibly_damaging(0.764) deleterious(0.04) deleterious(0.632) superfamily_Protein kinase-like (PK-like),superfamily_SH2 domain TOR1AIP1 26092 genome.wustl.edu 37 1 179887056 179887056 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000447964 +1 known p.Y213C 0.008 182 0% 194 28.4% 15 46.6% - - - HMMPfam_LAP1C CEP350 9857 genome.wustl.edu 37 1 179983640 179983640 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014810.4 +1 reviewed p.Q684H 1.000 67 0% 72 27.8% 1 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL IER5 51278 genome.wustl.edu 37 1 181058840 181058840 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016545.4 +1 validated p.N268D 1.000 21 0% 31 32.3% 67 44.7% possibly_damaging(0.891) deleterious(0.04) deleterious(0.700) HMMPfam_IER CACNA1E 777 genome.wustl.edu 37 1 181708366 181708366 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000721.2 +1 reviewed p.G1232 0.704 676 0% 939 31.9% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels GLUL 2752 genome.wustl.edu 37 1 182353701 182353701 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001033044.2 -1 reviewed p.A321T 1.000 233 0% 273 30% 80 31.2% possibly_damaging(0.885) tolerated(0.06) deleterious(0.668) HMMPfam_Gln-synt_C,superfamily_Glutamine synthetase/guanido kinase DHX9 1660 genome.wustl.edu 37 1 182856295 182856295 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001357.4 +1 reviewed p.Y1180C 0.000 239 0% 268 38.1% 226 45.1% probably_damaging(0.992) tolerated(0.07) deleterious(0.766) NULL HMCN1 83872 genome.wustl.edu 37 1 185939508 185939508 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031935.2 +1 reviewed p.P752T 0.677 248 0% 186 31.2% 0 - benign(0) tolerated(0.7) neutral(0.002) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ASPM 259266 genome.wustl.edu 37 1 197071371 197071371 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018136.4 -1 reviewed p.A2337V 0.992 314 0% 151 29.1% 6 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases TMEM9 252839 genome.wustl.edu 37 1 201123047 201123047 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016456.3 -1 validated p.K2M 1.000 85 0% 121 28.1% 59 37.2% possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL NAV1 89796 genome.wustl.edu 37 1 201752920 201752920 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020443.4 +1 reviewed p.T915I 0.306 65 0% 70 24.3% 0 - benign(0.071) deleterious(0.05) neutral(0.350) NULL PTPN7 5778 genome.wustl.edu 37 1 202121772 202121772 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080588.1 -1 reviewed p.H297R 1.000 114 0% 159 36.5% 5 0% benign(0.211) deleterious(0.01) neutral(0.426) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 ADIPOR1 51094 genome.wustl.edu 37 1 202912933 202912933 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001127687.1 -1 validated p.A253V 1.000 89 0% 189 34.4% 116 48.2% possibly_damaging(0.49) deleterious(0) deleterious(0.608) HMMPfam_HlyIII MYBPH 4608 genome.wustl.edu 37 1 203140556 203140556 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004997.2 -1 validated p.V250M 0.436 53 0% 54 25.9% 0 - possibly_damaging(0.63) deleterious(0.01) deleterious(0.626) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 LAX1 54900 genome.wustl.edu 37 1 203743395 203743395 + Silent SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017773.3 +1 validated p.S261 0.954 197 0% 263 33.1% 2 0% - - - NULL ETNK2 55224 genome.wustl.edu 37 1 204109238 204109238 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018208.2 -1 reviewed p.R265W 0.859 212 0% 279 29.7% 4 25% benign(0.167) deleterious(0.02) neutral(0.398) HMMPfam_Choline_kinase,superfamily_Kinase_like PIK3C2B 5287 genome.wustl.edu 37 1 204438707 204438707 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002646.3 -1 reviewed p.R75Q 0.063 194 0% 266 31.2% 8 25% benign(0) tolerated(0.2) neutral(0.049) NULL NFASC 23114 genome.wustl.edu 37 1 204942425 204942425 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015090.3 +1 reviewed p.R397H 0.998 186 0% 172 34.3% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NFASC 23114 genome.wustl.edu 37 1 204948098 204948098 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015090.3 +1 reviewed p.R623W 1.000 16 0% 25 36% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_FN_III-like,superfamily_SSF48726 NUAK2 81788 genome.wustl.edu 37 1 205280955 205280955 + Splice_Site SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030952.1 -1 provisional e2-2 1.000 372 0% 553 31.3% 0 - - - - - MFSD4 148808 genome.wustl.edu 37 1 205538344 205538344 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181644.4 +1 validated p.S49 0.994 10 0% 17 35.3% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SRGAP2 23380 genome.wustl.edu 37 1 206566940 206566940 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000295713 +1 known p.Q161* 0.999 473 15.4% 511 18.4% 18 0% - - - NULL LGTN 100529141 genome.wustl.edu 37 1 206767137 206767137 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006893.2 -1 reviewed p.T505 0.001 56 0% 65 33.8% 53 47.1% - - - HMMPfam_SUI1,superfamily_eIF1-like DYRK3 8444 genome.wustl.edu 37 1 206821276 206821276 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003582.2 +1 reviewed p.R245C 1.000 92 0% 120 35.8% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CR2 1380 genome.wustl.edu 37 1 207648474 207648474 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001006658.2 +1 reviewed p.P877S 0.028 345 0% 333 34.2% 0 - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module PLXNA2 5362 genome.wustl.edu 37 1 208224749 208224749 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025179.3 -1 reviewed p.V1005M 0.999 78 0% 121 39.7% 7 28.5% probably_damaging(0.98) tolerated(0.06) deleterious(0.746) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains HHAT 55733 genome.wustl.edu 37 1 210577980 210577980 + Nonsense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001122834.2 +1 validated p.L214* 1.000 87 0% 88 35.2% 0 - - - - HMMPfam_MBOAT SLC30A1 7779 genome.wustl.edu 37 1 211751598 211751598 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021194.2 -1 validated p.V119 1.000 22 0% 27 22.2% 23 60.8% - - - HMMPfam_Cation_efflux SMYD2 56950 genome.wustl.edu 37 1 214505386 214505386 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020197.2 +1 validated p.C321 0.975 184 0% 223 39.9% 61 34.4% - - - NULL KCTD3 51133 genome.wustl.edu 37 1 215752457 215752457 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016121.3 +1 validated p.T171M 0.591 237 0% 352 31.5% 5 20% possibly_damaging(0.66) deleterious(0.01) deleterious(0.639) NULL RRP15 51018 genome.wustl.edu 37 1 218478370 218478370 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016052.3 +1 reviewed p.R136C 1.000 317 0% 313 34.8% 20 20% possibly_damaging(0.861) tolerated(0.08) deleterious(0.633) HMMPfam_Rrp15p EPRS 2058 genome.wustl.edu 37 1 220192388 220192388 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004446.2 -1 reviewed p.V461 0.003 397 0% 403 33.5% 18 66.6% - - - HMMPfam_tRNA-synt_1c,superfamily_SSF52374 HLX 3142 genome.wustl.edu 37 1 221057975 221057975 + Missense_Mutation SNP G G C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021958.3 +1 validated p.A466P 0.000 8 0.000 12 0.417 22 18.1% benign(0.431) deleterious(0) deleterious(0.585) NULL DNAH14 127602 genome.wustl.edu 37 1 225569143 225569143 + Silent SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001373.1 +1 validated p.R4211 0.979 158 0% 166 19.3% 1 0% - - - HMMPfam_Dynein_heavy LIN9 286826 genome.wustl.edu 37 1 226426721 226426721 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173083.2 -1 provisional p.N415S 1.000 360 0% 466 32.8% 7 42.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ITPKB 3707 genome.wustl.edu 37 1 226924077 226924077 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002221.3 -1 reviewed p.G361 0.000 49 2% 44 27.3% 10 50% - - - NULL OBSCN 84033 genome.wustl.edu 37 1 228557899 228557899 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001098623.1 +1 reviewed p.R6709Q 0.997 54 0% 56 35.7% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase OBSCN 84033 genome.wustl.edu 37 1 228560043 228560043 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000441106 +1 known p.G1805C 0.434 26 0% 42 38.1% 0 - - - - NULL SIPA1L2 57568 genome.wustl.edu 37 1 232600901 232600901 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020808.3 -1 validated p.A835 0.984 197 0% 278 30.6% 4 75% - - - NULL TARBP1 6894 genome.wustl.edu 37 1 234608512 234608512 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005646.3 -1 reviewed p.L326P 0.962 102 0% 93 36.6% 1 100% probably_damaging(0.992) tolerated(0.08) deleterious(0.748) NULL HEATR1 55127 genome.wustl.edu 37 1 236730044 236730044 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018072.4 -1 validated p.D1404N 0.000 147 0% 138 25.4% 10 50% benign(0.039) tolerated(0.56) neutral(0.009) superfamily_ARM-type_fold OR2C3 81472 genome.wustl.edu 37 1 247694878 247694878 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198074.4 -1 validated p.G312 0.004 62 0% 118 33.1% 0 - - - - NULL OR6F1 343169 genome.wustl.edu 37 1 247875694 247875694 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005286.1 -1 provisional p.R122C 1.000 99 0% 97 43.3% 0 - benign(0.303) deleterious(0) deleterious(0.538) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR2T27 403239 genome.wustl.edu 37 1 248813822 248813822 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001001824.1 -1 provisional p.R122C 0.994 60 0% 78 26.9% 0 - possibly_damaging(0.661) deleterious(0.02) deleterious(0.617) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 SH3BP5L 80851 genome.wustl.edu 37 1 249106303 249106303 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030645.1 -1 provisional p.P326 0.000 13 0% 22 50% 8 37.5% - - - NULL TPO 7173 genome.wustl.edu 37 2 1507739 1507739 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000446278 +1 known p.T277M 0.038 67 0% 84 36.9% 0 - - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin PXDN 7837 genome.wustl.edu 37 2 1642697 1642697 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012293.1 -1 validated p.R1376H 0.001 407 0.2% 534 35.2% 4 0% benign(0.001) tolerated(0.13) neutral(0.253) NULL MYT1L 23040 genome.wustl.edu 37 2 1842975 1842975 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015025.2 -1 validated p.T1007M 1.000 22 0% 43 30.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2HC,superfamily_SSF103637 MYT1L 23040 genome.wustl.edu 37 2 1855434 1855434 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015025.2 -1 validated p.G916D 1.000 161 0.6% 245 34.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2HC,superfamily_SSF103637 TAF1B 9014 genome.wustl.edu 37 2 10045002 10045002 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005680.2 +1 reviewed p.Y274 0.998 149 0% 149 30.2% 1 100% - - - NULL GREB1 9687 genome.wustl.edu 37 2 11738979 11738979 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014668.3 +1 reviewed p.L776I 0.995 313 0% 338 19.2% 0 - probably_damaging(0.991) tolerated(0.18) deleterious(0.500) NULL FAM49A 81553 genome.wustl.edu 37 2 16743311 16743311 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030797.3 -1 validated p.E133K 1.000 359 0.3% 297 29.3% 1 0% benign(0.195) tolerated(0.13) neutral(0.271) HMMPfam_DUF1394 SMC6 79677 genome.wustl.edu 37 2 17906572 17906572 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142286.1 -1 validated p.I226 1.000 588 0% 440 28% 2 100% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases MFSD2B 388931 genome.wustl.edu 37 2 24245740 24245740 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080473.1 +1 provisional p.F343V 0.968 261 0% 419 27.7% 0 - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) superfamily_MFS_gen_substrate_transporter ADCY3 109 genome.wustl.edu 37 2 25050456 25050456 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004036.3 -1 reviewed p.E818 1.000 237 0.4% 221 30.8% 19 57.8% - - - NULL POMC 5443 genome.wustl.edu 37 2 25384262 25384262 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000939.2 -1 reviewed p.A164 0.995 16 0% 26 30.8% 1 0% - - - HMMPfam_ACTH_domain AGBL5 60509 genome.wustl.edu 37 2 27279507 27279507 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021831.5 +1 validated p.Y461C 1.000 139 0% 158 29.1% 23 30.4% probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_Zn-dependent exopeptidases TCF23 150921 genome.wustl.edu 37 2 27373203 27373203 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_175769.2 +1 reviewed p.L145 1.000 23 0% 31 19.4% 0 - - - - NULL FNDC4 64838 genome.wustl.edu 37 2 27715551 27715551 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022823.2 -1 validated p.R217 1.000 491 0% 604 30.1% 4 50% - - - NULL BRE 9577 genome.wustl.edu 37 2 28210900 28210900 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004899.3 +1 validated p.P82 0.913 285 0% 230 33.9% 24 41.6% - - - HMMPfam_BRE FAM179A 165186 genome.wustl.edu 37 2 29221077 29221077 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_199280.2 +1 validated p.L33F 0.006 40 0% 49 30.6% 0 - possibly_damaging(0.45) tolerated(0.27) neutral(0.181) NULL BIRC6 57448 genome.wustl.edu 37 2 32702455 32702455 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016252.3 +1 reviewed p.R2291H 1.000 293 0% 275 28% 4 25% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL BIRC6 57448 genome.wustl.edu 37 2 32707515 32707515 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016252.3 +1 reviewed p.Y2521H 1.000 331 0% 357 33.6% 2 100% probably_damaging(0.991) tolerated(0.49) neutral(0.455) NULL TTC27 55622 genome.wustl.edu 37 2 32897376 32897376 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017735.3 +1 provisional p.I326T 1.000 372 0% 441 26.8% 13 46.1% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL LTBP1 4052 genome.wustl.edu 37 2 33540325 33540325 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_206943.2 +1 reviewed p.R1241H 0.009 182 0% 213 36.6% 4 50% benign(0.023) tolerated(0.13) neutral(0.254) HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin C2orf56 55471 genome.wustl.edu 37 2 37474631 37474631 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144736.4 +1 validated p.L323 0.009 286 0% 261 35.6% 19 47.3% - - - HMMPfam_DUF185 OXER1 165140 genome.wustl.edu 37 2 42990177 42990177 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_148962.4 -1 validated p.S381 0.000 83 0% 87 28.7% 0 - - - - superfamily_SSF81321 ZFP36L2 678 genome.wustl.edu 37 2 43452645 43452645 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006887.4 -1 reviewed p.T100A 0.437 17 0% 26 23.1% 31 12.9% benign(0.24) tolerated(0.43) neutral(0.037) HMMPfam_Tis11B_N EPAS1 2034 genome.wustl.edu 37 2 46607619 46607619 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001430.4 +1 reviewed p.P603H 1.000 85 0% 87 25.3% 52 38.4% possibly_damaging(0.781) tolerated(0.08) deleterious(0.593) NULL BCL11A 53335 genome.wustl.edu 37 2 60688426 60688426 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022893.3 -1 reviewed p.R541C 1.000 5 0.000 11 0.364 1 0% probably_damaging(0.978) tolerated(0.14) deleterious(0.670) NULL USP34 9736 genome.wustl.edu 37 2 61541871 61541871 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014709.3 -1 validated p.G1131C 1.000 423 0% 414 27.8% 4 100% probably_damaging(0.998) - - NULL SERTAD2 9792 genome.wustl.edu 37 2 64863437 64863437 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014755.2 -1 validated p.T190M 0.000 99 0% 112 33% 2 50% benign(0.201) deleterious(0.04) neutral(0.368) NULL ETAA1 54465 genome.wustl.edu 37 2 67626326 67626326 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019002.3 +1 validated p.A83 0.023 177 0% 235 31.9% 3 33.3% - - - NULL CLEC4F 165530 genome.wustl.edu 37 2 71043801 71043801 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173535.2 -1 validated p.T238A 0.001 187 0% 145 35.9% 0 - benign(0) tolerated(0.63) neutral(0.004) NULL ATP6V1B1 525 genome.wustl.edu 37 2 71191593 71191593 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001692.3 +1 reviewed p.P390H 1.000 257 0% 416 30% 6 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ATP-synt_ab,PatternScan_ATPASE_ALPHA_BETA,superfamily_SSF52540 DYSF 8291 genome.wustl.edu 37 2 71747313 71747313 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001130987.1 +1 reviewed p.D336 0.987 322 0% 377 34.2% 0 - - - - HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_FerI TET3 200424 genome.wustl.edu 37 2 74326566 74326566 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144993.1 +1 provisional p.A1009V 1.000 47 0% 69 31.9% 3 66.6% possibly_damaging(0.808) deleterious(0.04) deleterious(0.653) NULL SLC4A5 57835 genome.wustl.edu 37 2 74489344 74489344 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021196.3 -1 reviewed p.R244Q 1.000 65 0% 86 30.2% 0 - benign(0.071) tolerated(0.51) neutral(0.014) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein LOXL3 84695 genome.wustl.edu 37 2 74761554 74761554 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032603.2 -1 reviewed p.Y610H 1.000 395 0% 643 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE HK2 3099 genome.wustl.edu 37 2 75112682 75112682 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000189.4 +1 reviewed p.V634A 1.000 282 0% 450 36.7% 79 54.4% benign(0.029) tolerated(0.15) neutral(0.242) HMMPfam_Hexokinase_1,superfamily_SSF53067 LOC442028 442028 genome.wustl.edu 37 2 95613824 95613824 + RNA SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XR_017781.2 -1 model NULL 1.000 149 0% 148 27% 0 - - - - - PROM2 150696 genome.wustl.edu 37 2 95943217 95943217 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144707.2 +1 reviewed p.R293H 0.000 37 0% 32 18.8% 20 5% benign(0.08) tolerated(0.23) neutral(0.047) HMMPfam_Prominin LOC400986 400986 genome.wustl.edu 37 2 96548226 96548226 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_001717763.2 -1 model p.S746 0.000 260 0% 125 23.2% 0 - - - - NULL ASTL 431705 genome.wustl.edu 37 2 96795595 96795595 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001002036.3 -1 validated p.C281Y 1.000 92 0% 87 34.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) "HMMPfam_Astacin,superfamily_Metalloproteases (""zincins"") catalytic domain" FER1L5 90342 genome.wustl.edu 37 2 97357465 97357465 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001113382.1 +1 provisional p.C1020 0.001 135 0% 201 36.8% 0 - - - - NULL CNNM4 26504 genome.wustl.edu 37 2 97463271 97463271 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020184.3 +1 reviewed p.R523Q 1.000 50 0% 78 35.9% 41 56% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) NULL ANKRD36 375248 genome.wustl.edu 37 2 97866101 97866101 + Splice_Site SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000289105 +1 known e6+2 0.035 1010 0% 835 21% 0 - - - - - TMEM131 23505 genome.wustl.edu 37 2 98375490 98375490 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015348.1 -1 validated p.R1745* 0.993 141 0.7% 213 39.4% 22 18.1% - - - NULL INPP4A 3631 genome.wustl.edu 37 2 99149901 99149901 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001134224.1 +1 reviewed p.S71 0.982 181 0% 244 30.7% 4 50% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) REV1 51455 genome.wustl.edu 37 2 100029223 100029223 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016316.2 -1 reviewed p.A714 0.955 309 0% 249 35.3% 4 75% - - - HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain,superfamily_DNA/RNA polymerases IL1RL2 8808 genome.wustl.edu 37 2 102805617 102805617 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003854.2 +1 reviewed p.I47T 0.000 251 0% 272 18% 0 - benign(0.001) tolerated(0.12) neutral(0.261) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 SLC5A7 60482 genome.wustl.edu 37 2 108627118 108627118 + Missense_Mutation SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021815.2 +1 provisional p.D515A 1.000 298 0% 263 30% 0 - benign(0.045) tolerated(0.5) neutral(0.013) NULL RGPD8 727851 genome.wustl.edu 37 2 113147194 113147194 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000302558 -1 known p.N1110Y 1.000 256 0% 227 11.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ran_BP1,HMMSmart_SM00160,superfamily_PH domain-like PSD4 23550 genome.wustl.edu 37 2 113940360 113940360 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012455.2 +1 validated p.S109 0.000 88 0% 96 37.5% 4 50% - - - NULL DDX18 8886 genome.wustl.edu 37 2 118582156 118582156 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006773.3 +1 reviewed p.T360A 1.000 308 0% 342 31.6% 21 33.3% benign(0.028) deleterious(0) neutral(0.446) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 EN1 2019 genome.wustl.edu 37 2 119600729 119600729 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001426.3 -1 reviewed p.F322L 1.000 94 0% 112 30.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like MARCO 8685 genome.wustl.edu 37 2 119750723 119750723 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006770.3 +1 reviewed p.I426F 0.745 249 0% 242 34.3% 0 - probably_damaging(0.999) - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CNTNAP5 129684 genome.wustl.edu 37 2 125405393 125405393 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_130773.2 +1 reviewed p.G644 0.000 78 0% 77 28.6% 0 - - - - superfamily_ConA_like_lec_gl CNTNAP5 129684 genome.wustl.edu 37 2 125530570 125530570 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_130773.2 +1 reviewed p.Q909* 1.000 117 0% 101 36.6% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 PROC 5624 genome.wustl.edu 37 2 128186044 128186044 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000312.3 +1 reviewed p.L303R 1.000 59 0% 95 34.7% 25 56% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MYO7B 4648 genome.wustl.edu 37 2 128335838 128335838 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080527.1 +1 provisional p.H327R 1.000 74 0% 97 36.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases WDR33 55339 genome.wustl.edu 37 2 128467100 128467100 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018383.3 -1 reviewed p.R1177W 0.994 212 0.5% 225 32.9% 29 48.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL POLR2D 5433 genome.wustl.edu 37 2 128610508 128610508 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004805.3 -1 reviewed p.S82N 1.000 353 0% 368 32.9% 10 60% benign(0.001) tolerated(0.15) neutral(0.241) HMMPfam_RNA_pol_Rpb4,HMMSmart_SM00657,superfamily_HRDC-like LOC653269 653269 genome.wustl.edu 37 2 131266547 131266547 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_928585.2 -1 model p.D88N 0.004 168 0% 209 31.1% 0 - possibly_damaging(0.792) tolerated(0.29) neutral(0.326) NULL FAM123C 205147 genome.wustl.edu 37 2 131520031 131520031 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001105193.1 +1 validated p.Y129C 1.000 16 0% 14 57.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_WTX PLEKHB2 55041 genome.wustl.edu 37 2 131883460 131883460 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001100623.1 +1 validated p.T58A 0.832 128 0% 154 28.6% 67 55.2% benign(0) tolerated(0.56) neutral(0.006) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like NCKAP5 344148 genome.wustl.edu 37 2 133540023 133540023 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_207363.2 -1 validated p.A1454V 0.000 188 0% 204 33.8% 0 - benign(0.208) tolerated(0.12) neutral(0.281) NULL NCKAP5 344148 genome.wustl.edu 37 2 133540095 133540095 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_207363.2 -1 validated p.R1430M 0.032 123 0% 105 32.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZRANB3 84083 genome.wustl.edu 37 2 136029342 136029342 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032143.2 -1 provisional p.G401D 1.000 205 0% 196 35.7% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases LRP1B 53353 genome.wustl.edu 37 2 141004710 141004710 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000437977 -1 known p.A655V 0.997 328 0% 188 25.5% 0 - - - - HMMSmart_SM00181,PatternScan_EGF_1,superfamily_EGF/Laminin LRP1B 53353 genome.wustl.edu 37 2 141291626 141291626 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018557.2 -1 validated p.D2576N 1.000 301 0% 207 27.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich,superfamily_SSF63825 NR4A2 4929 genome.wustl.edu 37 2 157182707 157182707 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006186.3 -1 reviewed p.D499N 1.000 129 0% 152 32.9% 16 25% benign(0.023) deleterious(0.03) neutral(0.365) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain PKP4 8502 genome.wustl.edu 37 2 159481854 159481854 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003628.3 +1 reviewed p.R356 1.000 59 0% 74 35.1% 44 34% - - - NULL KCNH7 90134 genome.wustl.edu 37 2 163241270 163241270 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033272.2 -1 reviewed p.G964W 0.116 460 0% 348 34.8% 0 - possibly_damaging(0.696) deleterious(0.01) deleterious(0.655) NULL SCN2A 6326 genome.wustl.edu 37 2 166229828 166229828 + Silent SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001040142.1 +1 reviewed p.R1315 1.000 411 0% 438 33.6% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN1A 6323 genome.wustl.edu 37 2 166848844 166848844 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006920.4 -1 reviewed p.L1636 0.067 375 0% 375 29.1% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN9A 6335 genome.wustl.edu 37 2 167141208 167141208 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002977.3 -1 reviewed p.I577V 1.000 213 0% 249 28.1% 0 - benign(0.064) tolerated(1) neutral(0.004) NULL LRP2 4036 genome.wustl.edu 37 2 170112668 170112670 + In_Frame_Del DEL TCT TCT - novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004525.2 -1 reviewed p.R906in_frame_del 0.005:0.002:0.003 - - - - - - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 SSB 6741 genome.wustl.edu 37 2 170662533 170662533 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000413002 +1 known p.V124A 0.001 15 0% 10 40% 0 - benign(0.009) tolerated(0.56) neutral(0.007) NULL TLK1 9874 genome.wustl.edu 37 2 171906672 171906672 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012290.4 -1 validated p.L249F 1.000 507 0% 572 26.9% 8 62.5% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) NULL HOXD3 3232 genome.wustl.edu 37 2 177036901 177036901 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006898.4 +1 reviewed p.H400Y 1.000 49 0% 76 27.6% 0 - benign(0.081) deleterious(0) neutral(0.451) NULL TTN 7273 genome.wustl.edu 37 2 179410964 179410964 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_133378.4 -1 reviewed p.P29130L 0.016 226 0% 137 29.9% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179433682 179433682 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000356127 -1 known p.G23156D 1.000 360 0.6% 258 34.9% 1 100% probably_damaging(1) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179435163 179435163 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_133378.4 -1 reviewed p.M22664T 1.000 168 0% 116 35.3% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179466624 179466624 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000356127 -1 known p.I15861M 1.000 312 0% 186 29% 0 - possibly_damaging(0.89) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179490093 179490093 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000356127 -1 known p.T12251A 1.000 390 0% 276 29.7% 0 - benign(0.099) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179611703 179611703 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_133379.3 -1 reviewed p.G5142S 1.000 313 0% 253 32.4% 0 - benign(0) tolerated(1) - NULL TTN 7273 genome.wustl.edu 37 2 179647599 179647599 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_133379.3 -1 reviewed p.R1012* 0.993 130 0% 137 32.1% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179650671 179650671 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_133379.3 -1 reviewed p.H758 0.001 192 0% 181 19.9% 0 - - - - NULL CWC22 57703 genome.wustl.edu 37 2 180835484 180835484 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020943.2 -1 validated p.F347S 1.000 314 0% 383 13.3% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat FSIP2 401024 genome.wustl.edu 37 2 186672112 186672112 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000424728 +1 known p.T6027A 0.008 75 0% 31 16.1% 0 - probably_damaging(0.972) tolerated(0.32) neutral(0.438) NULL WDR75 84128 genome.wustl.edu 37 2 190340084 190340084 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032168.1 +1 provisional p.E812K 1.000 123 0.8% 154 32.5% 71 45% benign(0.36) deleterious(0.01) deleterious(0.520) NULL OSGEPL1 64172 genome.wustl.edu 37 2 190617391 190617391 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022353.2 -1 validated p.R385H 1.000 232 0% 263 30.8% 4 100% probably_damaging(0.982) tolerated(0.13) deleterious(0.679) NULL STAT1 6772 genome.wustl.edu 37 2 191851598 191851598 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007315.3 -1 reviewed p.A401 0.050 382 0.5% 372 33.1% 253 40.3% - - - superfamily_p53-like transcription factors,HMMPfam_STAT_bind SDPR 8436 genome.wustl.edu 37 2 192711286 192711286 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004657.5 -1 reviewed p.S122 1.000 139 0% 171 29.2% 1 0% - - - NULL SLC39A10 57181 genome.wustl.edu 37 2 196544770 196544770 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001127257.1 +1 validated p.K2E 1.000 68 0% 55 38.2% 4 50% unknown(0) - - NULL SLC39A10 57181 genome.wustl.edu 37 2 196544912 196544912 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001127257.1 +1 validated p.S49N 0.936 188 0% 159 24.5% 1 0% benign(0.004) deleterious(0) neutral(0.445) NULL CCDC150 284992 genome.wustl.edu 37 2 197590779 197590779 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080539.1 +1 provisional p.E838K 0.989 204 0% 263 27.4% 1 100% probably_damaging(0.971) deleterious(0.03) deleterious(0.777) NULL SF3B1 23451 genome.wustl.edu 37 2 198267395 198267395 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012433.2 -1 reviewed p.S654 1.000 267 0% 217 31.3% 82 36.5% - - - superfamily_ARM repeat SPATS2L 26010 genome.wustl.edu 37 2 201342374 201342374 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001100422.1 +1 validated p.Q433K 1.000 98 0% 93 31.2% 201 43.2% possibly_damaging(0.946) tolerated(0.11) deleterious(0.661) NULL AOX1 316 genome.wustl.edu 37 2 201485877 201485877 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001159.3 +1 reviewed p.G637S 0.986 349 0.3% 373 34.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ald_Xan_dh_C,superfamily_CO dehydrogenase molybdoprotein N-domain-like CLK1 1195 genome.wustl.edu 37 2 201726178 201726178 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004071.3 -1 reviewed p.E58G 1.000 178 0% 154 30.5% 22 45.4% possibly_damaging(0.614) deleterious(0.01) deleterious(0.619) NULL NOP58 51602 genome.wustl.edu 37 2 203149087 203149087 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015934.3 +1 provisional p.C106Y 1.000 329 0% 355 36.6% 52 51.9% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL BMPR2 659 genome.wustl.edu 37 2 203383610 203383610 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001204.6 +1 reviewed p.V229 1.000 279 0% 314 29.3% 6 66.6% - - - superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PARD3B 117583 genome.wustl.edu 37 2 205829887 205829887 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152526.4 +1 validated p.F79L 1.000 314 0% 294 26.5% 1 0% possibly_damaging(0.823) deleterious(0) deleterious(0.756) NULL MDH1B 130752 genome.wustl.edu 37 2 207615686 207615686 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001039845.1 -1 validated p.R342C 0.688 409 0% 292 27.7% 0 - possibly_damaging(0.588) tolerated(0.19) neutral(0.253) superfamily_LDH C-terminal domain-like PIKFYVE 200576 genome.wustl.edu 37 2 209190588 209190588 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015040.3 +1 reviewed p.P1018H 1.000 181 0% 177 20.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAP2 4133 genome.wustl.edu 37 2 210557706 210557706 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002374.3 +1 reviewed p.T271M 0.000 98 0% 74 32.4% 0 - benign(0.009) deleterious(0.01) neutral(0.406) NULL ACADL 33 genome.wustl.edu 37 2 211074971 211074971 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001608.3 -1 reviewed p.I184M 0.540 458 0% 311 30.9% 12 75% benign(0.033) tolerated(0.19) neutral(0.051) HMMPfam_Acyl-CoA_dh_M,superfamily_AcylCoA_dehyd_NM ERBB4 2066 genome.wustl.edu 37 2 212288999 212288999 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005235.2 -1 reviewed p.F916Y 1.000 297 0% 284 37% 0 - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SPAG16 79582 genome.wustl.edu 37 2 214794854 214794854 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024532.3 +1 validated p.I462T 1.000 215 0% 183 16.4% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 ABCA12 26154 genome.wustl.edu 37 2 215821459 215821459 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173076.2 -1 reviewed p.A2054V 1.000 335 0% 303 26.1% 1 100% benign(0) tolerated(0.92) - NULL FN1 2335 genome.wustl.edu 37 2 216248133 216248133 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_212482.1 -1 reviewed p.S1656 0.000 377 0% 338 27.5% 42 21.4% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SMARCAL1 50485 genome.wustl.edu 37 2 217285159 217285159 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001127207.1 +1 reviewed p.R334* 0.198 311 0.6% 389 35% 14 7.1% - - - NULL CXCR2 3579 genome.wustl.edu 37 2 218999763 218999763 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001557.3 +1 reviewed p.R80H 0.465 208 0% 257 33.1% 0 - benign(0.2) tolerated(0.12) neutral(0.280) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF142 7701 genome.wustl.edu 37 2 219507796 219507796 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001105537.1 -1 validated p.T1148I 0.000 61 0% 40 27.5% 8 25% benign(0.004) tolerated(0.06) neutral(0.323) HMMSmart_SM00355 CYP27A1 1593 genome.wustl.edu 37 2 219677014 219677014 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000445971 +1 known p.A109T 0.000 145 0% 129 24.8% 5 20% unknown(0) - - NULL WNT6 7475 genome.wustl.edu 37 2 219736491 219736491 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006522.3 +1 reviewed p.G196R 0.919 31 0% 65 12.3% 0 - benign(0.059) deleterious(0.01) neutral(0.410) HMMPfam_wnt,HMMSmart_WNT1 FEV 54738 genome.wustl.edu 37 2 219846735 219846735 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017521.2 -1 reviewed p.Y124C 1.000 33 0% 91 17.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785 ZFAND2B 130617 genome.wustl.edu 37 2 220074000 220074000 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138802.1 +1 provisional p.S249L 0.999 147 0% 285 31.2% 80 41.2% - - - NULL ATG9A 79065 genome.wustl.edu 37 2 220089270 220089270 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001077198.1 -1 validated p.R275C 1.000 95 0% 124 33.9% 38 52.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_APG9 GLB1L 79411 genome.wustl.edu 37 2 220103830 220103830 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024506.3 -1 provisional p.R349Q 1.000 322 0% 451 32.8% 3 66.6% benign(0.381) deleterious(0.02) deleterious(0.504) HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases SPEG 10290 genome.wustl.edu 37 2 220348642 220348642 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005876.4 +1 validated p.V2153M 0.002 28 0% 25 48% 0 - benign(0.195) tolerated(0.06) neutral(0.341) NULL STK11IP 114790 genome.wustl.edu 37 2 220470333 220470333 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000456909 +1 known p.L208 0.996 198 0% 225 35.6% 7 57.1% - - - superfamily_Outer arm dynein light chain 1 DOCK10 55619 genome.wustl.edu 37 2 225637968 225637968 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014689.2 -1 validated p.S2037Y 1.000 449 0% 589 35.1% 4 0% possibly_damaging(0.489) deleterious(0) deleterious(0.607) HMMPfam_Ded_cyto NYAP2 57624 genome.wustl.edu 37 2 226273712 226273712 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020864.1 +1 validated p.A39V 1.000 246 0% 213 34.7% 0 - probably_damaging(0.979) tolerated(0.06) deleterious(0.744) NULL NYAP2 57624 genome.wustl.edu 37 2 226446951 226446951 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020864.1 +1 validated p.Y273C 1.000 93 0% 156 35.3% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL RHBDD1 84236 genome.wustl.edu 37 2 227729565 227729565 + Silent SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032276.3 +1 validated p.S52 0.982 245 0% 300 33% 9 44.4% - - - NULL AGFG1 3267 genome.wustl.edu 37 2 228356337 228356337 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001135187.1 +1 reviewed p.L81S 0.996 149 0% 149 26.8% 22 31.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain WDR69 164781 genome.wustl.edu 37 2 228767819 228767819 + Silent SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_178821.1 +1 provisional p.T214 0.784 354 0% 355 13% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DNER 92737 genome.wustl.edu 37 2 230312112 230312112 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139072.3 -1 validated p.I469T 0.782 96 0% 95 27.4% 13 30.7% benign(0.074) tolerated(0.07) neutral(0.324) superfamily_SSF57196 DGKD 8527 genome.wustl.edu 37 2 234346051 234346051 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152879.2 +1 reviewed p.L283Q 0.005 183 0% 245 35.9% 2 0% benign(0.002) tolerated(0.41) neutral(0.015) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain UGT1A9 54600 genome.wustl.edu 37 2 234580709 234580709 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021027.2 +1 reviewed p.S43 0.000 215 0% 192 19.8% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase LRRFIP1 9208 genome.wustl.edu 37 2 238672544 238672544 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001137552.1 +1 validated p.E730K 0.000 71 0% 90 25.6% 80 41.2% possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL KLHL30 377007 genome.wustl.edu 37 2 239049692 239049692 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198582.3 +1 validated p.T81 0.467 23 0% 45 26.7% 2 0% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB HDLBP 3069 genome.wustl.edu 37 2 242187476 242187476 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005336.3 -1 validated p.G558E 1.000 575 0% 695 31.2% 128 32.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 HDLBP 3069 genome.wustl.edu 37 2 242189359 242189359 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005336.3 -1 validated p.R470H 1.000 222 0% 283 31.4% 155 49.6% benign(0.149) tolerated(0.57) neutral(0.019) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 CNTN4 152330 genome.wustl.edu 37 3 2613197 2613197 + Missense_Mutation SNP C C G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_175607.1 +1 reviewed p.P4A 1.000 381 0% 393 31.3% 1 0% benign(0.069) tolerated(0.27) neutral(0.038) NULL LHFPL4 375323 genome.wustl.edu 37 3 9594105 9594105 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198560.2 -1 reviewed p.I87V 1.000 61 0% 71 33.8% 0 - benign(0.045) tolerated(0.2) neutral(0.052) HMMPfam_L_HGMIC_fpl BRPF1 7862 genome.wustl.edu 37 3 9780775 9780775 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001003694.1 +1 reviewed p.R231H 1.000 209 0% 332 19.9% 8 25% possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) HMMPfam_EPL1 IL17RC 84818 genome.wustl.edu 37 3 9969874 9969874 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153461.2 +1 reviewed p.V354I 0.000 111 0% 128 31.2% 28 46.4% benign(0.023) tolerated(0.34) neutral(0.024) NULL IQSEC1 9922 genome.wustl.edu 37 3 12954973 12954973 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000450726 -1 known p.R772W 0.763 363 0% 525 29.7% 4 25% - - - HMMSmart_SM00233,superfamily_PH domain-like FBLN2 2199 genome.wustl.edu 37 3 13649613 13649613 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001004019.1 +1 reviewed p.A453V 1.000 176 0% 212 27.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1 WNT7A 7476 genome.wustl.edu 37 3 13860767 13860767 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004625.3 -1 reviewed p.R242C 0.995 108 0% 135 30.4% 157 48.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_wnt,HMMSmart_SM00097 SLC6A6 6533 genome.wustl.edu 37 3 14508027 14508027 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001134367.1 +1 validated p.V246I 1.000 70 0% 93 12.9% 14 0% benign(0.022) deleterious(0) neutral(0.446) HMMPfam_SNF HACL1 26061 genome.wustl.edu 37 3 15624464 15624464 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012260.2 -1 validated p.S196N 0.965 191 0% 148 37.8% 14 28.5% benign(0.237) tolerated(0.35) neutral(0.044) superfamily_SSF52467 SLC4A7 9497 genome.wustl.edu 37 3 27436171 27436171 + Silent SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003615.3 -1 validated p.A976 0.992 150 0% 177 29.4% 4 50% - - - HMMPfam_HCO3_cotransp FBXL2 25827 genome.wustl.edu 37 3 33427035 33427035 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012157.3 +1 reviewed p.V403I 1.000 152 0% 213 37.1% 2 0% possibly_damaging(0.592) deleterious(0.03) deleterious(0.569) superfamily_SSF52047 CLASP2 23122 genome.wustl.edu 37 3 33668559 33668559 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015097.1 -1 validated p.R319Q 1.000 214 0% 150 32.7% 2 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_ARM repeat EPM2AIP1 9852 genome.wustl.edu 37 3 37033507 37033507 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014805.3 -1 reviewed p.L354 0.469 139 0% 130 34.6% 2 50% - - - NULL SLC22A13 9390 genome.wustl.edu 37 3 38316510 38316510 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004256.3 +1 reviewed p.T223M 0.600 73 0% 88 21.6% 0 - probably_damaging(0.993) tolerated(0.2) deleterious(0.499) HMMPfam_MFS_1,superfamily_MFS general substrate transporter TTC21A 199223 genome.wustl.edu 37 3 39150695 39150695 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001105513.2 +1 validated p.V49 0.014 203 0% 251 28.7% 0 - - - - superfamily_TPR-like ZNF852 285346 genome.wustl.edu 37 3 44542087 44542087 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000436261 -1 known p.Q61R 0.066 83 0% 55 18.2% 0 - benign(0.246) tolerated(0.2) neutral(0.074) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) FYCO1 79443 genome.wustl.edu 37 3 45972590 45972590 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000433878 -1 known p.P197L 0.001 103 0% 119 37.8% 5 80% - - - superfamily_Supernatant protein factor (SPF) C-terminal domain CCR2 729230 genome.wustl.edu 37 3 46399421 46399421 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001123041.2 +1 validated p.T135S 1.000 566 0% 613 32.5% 3 0% benign(0.356) tolerated(0.1) neutral(0.399) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like ALS2CL 259173 genome.wustl.edu 37 3 46713390 46713390 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_147129.2 -1 validated p.V890M 1.000 90 0% 117 29.1% 104 50.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VPS9,superfamily_VPS9 domain (Pfam 02204) PRSS50 29122 genome.wustl.edu 37 3 46758961 46758961 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013270.4 -1 validated p.F91L 0.000 308 0% 510 31.4% 0 - benign(0.001) - - NULL PRSS50 29122 genome.wustl.edu 37 3 46759287 46759287 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013270.4 -1 validated p.R10C 0.000 10 0% 19 36.8% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL PRSS42 339906 genome.wustl.edu 37 3 46875094 46875094 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182702.1 -1 provisional p.S96N 1.000 45 0% 54 16.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys NBEAL2 23218 genome.wustl.edu 37 3 47037427 47037427 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000416683 +1 known p.A151V 0.693 175 0% 196 33.7% 11 18.1% - - - NULL NBEAL2 23218 genome.wustl.edu 37 3 47039652 47039652 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000416683 +1 known p.Y490C 0.991 71 0% 101 34.7% 30 40% - - - NULL SETD2 29072 genome.wustl.edu 37 3 47103716 47103716 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014159.6 -1 reviewed p.R2077Q 1.000 741 0% 838 32.2% 19 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SETD2 29072 genome.wustl.edu 37 3 47155402 47155402 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014159.6 -1 reviewed p.K1560R 1.000 359 0% 412 28.9% 10 30% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain PTPN23 25930 genome.wustl.edu 37 3 47454464 47454464 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015466.2 +1 validated p.A1567V 0.912 72 0% 87 24.1% 60 41.6% unknown(0) tolerated(0.79) - NULL SMARCC1 6599 genome.wustl.edu 37 3 47719724 47719724 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003074.3 -1 validated p.R512Q 1.000 315 0% 514 35% 23 39.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SWIRM DHX30 22907 genome.wustl.edu 37 3 47882560 47882560 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138615.2 +1 reviewed p.R187Q 0.984 96 0% 140 30% 23 60.8% benign(0.392) deleterious(0) deleterious(0.570) NULL DHX30 22907 genome.wustl.edu 37 3 47889960 47889960 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138615.2 +1 reviewed p.A832V 1.000 91 0% 91 26.4% 67 43.2% benign(0.005) tolerated(0.46) neutral(0.012) superfamily_P-loop containing nucleoside triphosphate hydrolases COL7A1 1294 genome.wustl.edu 37 3 48630009 48630009 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000094.3 -1 reviewed p.R324W 0.584 33 0% 44 34.1% 1 0% unknown(0) deleterious(0.01) - superfamily_Fibronectin type III CELSR3 1951 genome.wustl.edu 37 3 48698402 48698402 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001407.2 -1 reviewed p.E556K 1.000 44 0% 30 30% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Cadherin,superfamily_Cadherin-like LAMB2 3913 genome.wustl.edu 37 3 49169780 49169780 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002292.3 -1 reviewed p.P103Q 1.000 267 0% 428 31.8% 20 40% benign(0.372) tolerated(0.39) neutral(0.135) HMMPfam_Laminin_N,HMMSmart_LamNT BSN 8927 genome.wustl.edu 37 3 49680204 49680204 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003458.3 +1 reviewed p.P379 1.000 17 0% 19 31.6% 0 - - - - NULL SEMA3F 6405 genome.wustl.edu 37 3 50220903 50220903 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004186.3 +1 validated p.R380H 1.000 105 0% 125 25.6% 37 35.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema GNAI2 2771 genome.wustl.edu 37 3 50290564 50290564 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002070.2 +1 reviewed p.Q138* 1.000 92 0% 115 27% 170 2.9% - - - HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases GRM2 2912 genome.wustl.edu 37 3 51746830 51746830 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000839.3 +1 reviewed p.R264 0.168 57 0% 32 37.5% 2 50% - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I DNAH1 25981 genome.wustl.edu 37 3 52387636 52387636 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015512.4 +1 validated p.Y1156C 0.985 20 0% 28 35.7% 1 0% possibly_damaging(0.45) deleterious(0.01) deleterious(0.553) HMMPfam_DHC_N2 DNAH1 25981 genome.wustl.edu 37 3 52395775 52395775 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015512.4 +1 validated p.Q1658R 1.000 44 0% 54 38.9% 1 0% benign(0.034) tolerated(0.98) neutral(0.002) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH1 25981 genome.wustl.edu 37 3 52413964 52413964 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015512.4 +1 validated p.R2474H 1.000 97 0% 132 32.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases PHF7 51533 genome.wustl.edu 37 3 52455676 52455676 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016483.4 +1 reviewed p.T196A 0.996 318 0% 352 18.2% 0 - benign(0.006) tolerated(0.21) neutral(0.044) HMMSmart_RING NISCH 11188 genome.wustl.edu 37 3 52512259 52512259 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007184.3 +1 validated p.S378 0.009 173 0% 210 29.5% 16 56.2% - - - HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1 RFT1 91869 genome.wustl.edu 37 3 53159972 53159972 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052859.3 -1 reviewed p.F34 1.000 190 0% 349 29.2% 10 100% - - - HMMPfam_Rft-1 RFT1 91869 genome.wustl.edu 37 3 53164352 53164352 + Splice_Site SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052859.3 -1 reviewed e1+2 1.000 13 0% 14 28.6% 1 100% - - - - DCP1A 55802 genome.wustl.edu 37 3 53338227 53338227 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018403.5 -1 reviewed p.P202S 0.020 284 0% 324 34% 6 50% - - - NULL CACNA2D3 55799 genome.wustl.edu 37 3 54157596 54157596 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018398.2 +1 reviewed p.Y60C 1.000 335 0.3% 458 33% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL IL17RD 54756 genome.wustl.edu 37 3 57131753 57131753 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017563.3 -1 validated p.R660W 0.659 39 0% 62 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FLNB 2317 genome.wustl.edu 37 3 58089740 58089740 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001457.3 +1 reviewed p.F513S 0.998 158 0% 163 29.4% 6 66.6% possibly_damaging(0.83) tolerated(0.09) deleterious(0.612) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin ADAMTS9 56999 genome.wustl.edu 37 3 64580081 64580081 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000481060 -1 known p.E459G 0.519 160 0% 185 27% 39 46.1% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat C3orf64 285203 genome.wustl.edu 37 3 69027534 69027534 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173654.1 -1 provisional p.V379I 0.009 280 0% 253 31.6% 4 50% benign(0.001) tolerated(0.29) neutral(0.029) NULL MITF 4286 genome.wustl.edu 37 3 69928357 69928357 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198159.2 +1 reviewed p.L59 1.000 81 0% 107 38.3% 6 50% - - - NULL MIR1284 100302112 genome.wustl.edu 37 3 71591157 71591157 + RNA SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000408337 -1 known NULL 1.000 100 0% 96 34.4% 0 - - - - - SHQ1 55164 genome.wustl.edu 37 3 72873623 72873623 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018130.2 -1 validated p.M227V 0.446 384 0% 345 30.1% 6 66.6% benign(0) tolerated(1) - NULL PDZRN3 23024 genome.wustl.edu 37 3 73433448 73433448 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015009.1 -1 provisional p.A757T 1.000 71 0% 68 41.2% 1 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL CNTN3 5067 genome.wustl.edu 37 3 74349084 74349084 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020872.1 -1 validated p.E701K 0.948 132 0% 139 33.8% 0 - benign(0.002) tolerated(0.92) - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III C3orf38 285237 genome.wustl.edu 37 3 88205567 88205567 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000318887 +1 known p.R258C 1.000 374 0% 424 33.3% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NTF2-like GPR15 2838 genome.wustl.edu 37 3 98251157 98251157 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005290.1 +1 provisional p.A94T 0.413 175 0% 183 27.3% 0 - possibly_damaging(0.8) deleterious(0.02) deleterious(0.684) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DCBLD2 131566 genome.wustl.edu 37 3 98530145 98530145 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080927.3 -1 validated p.T490M 0.840 459 0% 410 31.5% 19 42.1% possibly_damaging(0.742) deleterious(0.02) deleterious(0.655) NULL NFKBIZ 64332 genome.wustl.edu 37 3 101572529 101572529 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031419.2 +1 reviewed p.G387R 0.001 85 0% 88 27.3% 40 47.5% benign(0.057) tolerated(0.07) neutral(0.323) NULL CBLB 868 genome.wustl.edu 37 3 105452901 105452901 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_170662.3 -1 validated p.I385 0.968 240 0% 258 36.4% 4 75% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box BBX 56987 genome.wustl.edu 37 3 107466827 107466827 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142568.1 +1 validated p.S256P 0.997 358 0% 309 30.7% 16 62.5% possibly_damaging(0.918) deleterious(0) deleterious(0.813) HMMPfam_DUF2028 KIAA1524 57650 genome.wustl.edu 37 3 108278633 108278633 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020890.2 -1 validated p.R662C 1.000 221 0% 180 26.7% 11 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1524 57650 genome.wustl.edu 37 3 108288440 108288440 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020890.2 -1 validated p.L303 1.000 128 0% 122 26.2% 6 66.6% - - - superfamily_ARM repeat TMPRSS7 344805 genome.wustl.edu 37 3 111793213 111793213 + Nonsense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001042575.2 +1 validated p.C453* 1.000 428 0% 514 34% 0 - - - - HMMSmart_SM00192,superfamily_LDL receptor-like module SPICE1 152185 genome.wustl.edu 37 3 113187631 113187631 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000467618 -1 known p.S101N 1.000 366 0% 385 29.6% 5 40% - - - NULL ZNF80 7634 genome.wustl.edu 37 3 113955636 113955636 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007136.3 -1 validated p.M96V 0.017 139 0% 223 32.7% 0 - benign(0) deleterious(0.05) neutral(0.345) HMMSmart_ZnF_C2H2,superfamily_SSF57667 GPR156 165829 genome.wustl.edu 37 3 119886053 119886053 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153002.2 -1 validated p.R757 0.998 105 0% 91 30.8% 0 - - - - NULL GPR156 165829 genome.wustl.edu 37 3 119886387 119886387 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153002.2 -1 validated p.A646D 0.001 56 0% 86 30.2% 0 - benign(0) tolerated(1) - NULL HCLS1 3059 genome.wustl.edu 37 3 121350735 121350735 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005335.4 -1 validated p.H473 0.997 198 0% 225 27.6% 39 0% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ILDR1 286676 genome.wustl.edu 37 3 121725912 121725912 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_175924.2 -1 provisional p.Q52R 1.000 171 0% 342 28.1% 13 23% probably_damaging(0.962) tolerated(0.07) deleterious(0.724) HMMSmart_IG,superfamily_SSF48726 SNX4 8723 genome.wustl.edu 37 3 125170247 125170247 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003794.2 -1 reviewed p.A403T 1.000 400 0% 399 28.1% 27 40.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SLC41A3 54946 genome.wustl.edu 37 3 125775389 125775389 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001008487.1 -1 validated p.V3I 1.000 56 0% 55 29.1% 0 - benign(0.332) tolerated(0.2) neutral(0.153) NULL UROC1 131669 genome.wustl.edu 37 3 126216967 126216967 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144639.2 -1 reviewed p.S455 0.021 120 0% 141 31.9% 0 - - - - HMMPfam_Urocanase,superfamily_Urocanase PLXNA1 5361 genome.wustl.edu 37 3 126736307 126736307 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032242.3 +1 validated p.A1083T 0.995 57 0% 49 32.7% 17 41.1% possibly_damaging(0.915) tolerated(0.22) neutral(0.408) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains MCM2 4171 genome.wustl.edu 37 3 127339993 127339993 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000491422 +1 known p.S774N 1.000 131 0% 205 33.2% 49 55.1% - - - NULL H1FOO 132243 genome.wustl.edu 37 3 129270004 129270004 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153833.1 +1 reviewed p.A288T 0.120 95 0% 102 30.4% 0 - benign(0.008) tolerated(0.82) neutral(0.001) NULL COL6A5 256076 genome.wustl.edu 37 3 130116720 130116720 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153264.5 +1 validated p.R1288W 0.004 292 0.7% 299 21.4% 0 - possibly_damaging(0.693) - - superfamily_SSF53300 NPHP3 27031 genome.wustl.edu 37 3 132400859 132400859 + Silent SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153240.3 -1 reviewed p.S1296 0.298 477 0% 455 31.4% 11 36.3% - - - NULL RYK 6259 genome.wustl.edu 37 3 133930364 133930364 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005861.2 -1 reviewed p.T147M 1.000 285 0% 250 37.6% 19 78.9% possibly_damaging(0.836) tolerated(0.12) deleterious(0.580) NULL DZIP1L 199221 genome.wustl.edu 37 3 137783419 137783419 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000486487 -1 known p.L101F 0.004 106 0% 108 29.6% 0 - - - - NULL PRR23C 389152 genome.wustl.edu 37 3 138763069 138763069 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001134657.1 -1 validated p.G132R 0.000 49 0% 104 42.3% 0 - benign(0.002) tolerated(0.6) neutral(0.004) HMMPfam_DUF2476 CLSTN2 64084 genome.wustl.edu 37 3 140122484 140122484 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022131.2 +1 validated p.A82 0.032 139 0% 154 29.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TRPC1 7220 genome.wustl.edu 37 3 142522825 142522825 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003304.4 +1 validated p.I554 0.996 315 0% 309 35.9% 0 - - - - HMMPfam_Ion_trans PLSCR5 389158 genome.wustl.edu 37 3 146318172 146318172 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001085420.1 -1 validated p.S31Y 0.010 235 0% 188 31.4% 0 - possibly_damaging(0.453) tolerated(1) neutral(0.148) NULL ZIC1 7545 genome.wustl.edu 37 3 147128672 147128672 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003412.3 +1 reviewed p.V258A 1.000 161 0% 147 24.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_ZnF_C2H2 CPB1 1360 genome.wustl.edu 37 3 148559629 148559629 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001871.2 +1 reviewed p.N165S 0.831 350 0% 388 28.6% 0 - benign(0.048) tolerated(0.65) neutral(0.006) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases MED12L 116931 genome.wustl.edu 37 3 151097958 151097958 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_053002.4 +1 reviewed p.G1477 1.000 294 0% 321 27.4% 0 - - - - NULL IGSF10 285313 genome.wustl.edu 37 3 151155234 151155234 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_178822.4 -1 validated p.I2372T 0.992 360 0% 355 26.2% 0 - benign(0.061) tolerated(0.33) neutral(0.028) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ARHGEF26 26084 genome.wustl.edu 37 3 153912488 153912488 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015595.3 +1 validated p.A609V 1.000 251 0% 252 32.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) DHX36 170506 genome.wustl.edu 37 3 153995424 153995424 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020865.2 -1 validated p.N884S 1.000 369 0% 366 27.6% 28 42.8% benign(0.005) tolerated(0.2) neutral(0.049) HMMPfam_DUF1605 TNIK 23043 genome.wustl.edu 37 3 170846597 170846597 + Missense_Mutation SNP G G C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015028.2 -1 validated p.S560C 1.000 181 0% 254 33.9% 0 - probably_damaging(0.997) tolerated(0.1) deleterious(0.752) NULL PIK3CA 5290 genome.wustl.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C rs121913272 TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006218.2 +1 reviewed p.C420R 1.000 179 0% 154 34.4% 3 33.3% probably_damaging(0.992) tolerated(0.24) deleterious(0.485) HMMSmart_C2,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB GNB4 59345 genome.wustl.edu 37 3 179132797 179132797 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021629.3 -1 reviewed p.T102 0.987 148 0% 178 32% 4 25% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 USP13 8975 genome.wustl.edu 37 3 179448033 179448033 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003940.2 +1 validated p.D382V 1.000 358 0% 391 31.2% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_UCH,superfamily_SSF54001 CCDC39 339829 genome.wustl.edu 37 3 180334654 180334654 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181426.1 -1 validated p.T789M 0.608 618 0% 446 29.1% 0 - probably_damaging(0.988) tolerated(0.09) deleterious(0.734) NULL ABCC5 10057 genome.wustl.edu 37 3 183695400 183695400 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005688.2 -1 reviewed p.V437L 1.000 137 0% 238 30.7% 2 0% benign(0.067) tolerated(0.38) neutral(0.022) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain PSMD2 5708 genome.wustl.edu 37 3 184019696 184019696 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002808.3 +1 reviewed p.R181W 1.000 79 1.3% 116 38.8% 114 53.5% probably_damaging(0.972) deleterious(0.02) deleterious(0.797) superfamily_ARM-type_fold VPS8 23355 genome.wustl.edu 37 3 184646252 184646252 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001009921.2 +1 validated p.L882S 1.000 433 0% 404 35.6% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold MASP1 5648 genome.wustl.edu 37 3 186971079 186971079 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139125.3 -1 reviewed p.G257R 1.000 200 0% 223 43% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB LRRC15 131578 genome.wustl.edu 37 3 194081688 194081688 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001135057.2 -1 validated p.C35R 1.000 46 0% 31 25.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like TFRC 7037 genome.wustl.edu 37 3 195789788 195789788 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001128148.1 -1 validated p.S447 1.000 179 0% 209 19.1% 37 27% - - - superfamily_Zn-dependent exopeptidases PAK2 5062 genome.wustl.edu 37 3 196547384 196547384 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002577.4 +1 reviewed p.M432I 1.000 319 0% 380 14.5% 44 9% possibly_damaging(0.735) deleterious(0) deleterious(0.713) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase KIAA0226 9711 genome.wustl.edu 37 3 197420634 197420634 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145642.2 -1 validated p.L535F 0.622 206 0% 277 30.3% 7 42.8% benign(0) tolerated(0.31) neutral(0.027) NULL PCGF3 10336 genome.wustl.edu 37 4 755194 755194 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006315.4 +1 reviewed p.S197F 0.998 126 0% 145 35.2% 36 38.8% possibly_damaging(0.932) deleterious(0.03) deleterious(0.743) NULL MAEA 10296 genome.wustl.edu 37 4 1283757 1283757 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001017405.1 +1 reviewed p.Y19C 1.000 23 0% 43 32.6% 46 28.2% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL OTOP1 133060 genome.wustl.edu 37 4 4190531 4190531 + Nonstop_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_177998.1 -1 provisional p.*613W 0.069 88 0% 85 11.8% 0 - - - - NULL SORCS2 57537 genome.wustl.edu 37 4 7640108 7640108 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000507866 +1 known p.R201C 1.000 238 0% 285 35.8% 0 - - - - HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase ABLIM2 84448 genome.wustl.edu 37 4 8029564 8029564 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001130083.1 -1 validated p.T397A 1.000 88 0% 143 30.8% 0 - benign(0) tolerated(0.35) neutral(0.021) NULL SH3TC1 54436 genome.wustl.edu 37 4 8242521 8242521 + Missense_Mutation SNP G G A rs146085653 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018986.3 +1 validated p.A1284T 1.000 73 0% 118 31.4% 68 41.1% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) superfamily_TPR-like ACOX3 8310 genome.wustl.edu 37 4 8416071 8416071 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003501.2 -1 validated p.G164D 1.000 266 0% 363 29.5% 16 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Acyl-CoA_dh_M,superfamily_Acyl-CoA dehydrogenase NM domain-like CPEB2 132864 genome.wustl.edu 37 4 15060051 15060051 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182485.2 +1 reviewed p.A378V 1.000 452 0% 379 10.3% 2 0% benign(0.24) tolerated(0.35) neutral(0.044) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NCAPG 64151 genome.wustl.edu 37 4 17813896 17813896 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022346.3 +1 validated p.V55A 1.000 470 0% 657 30.9% 7 57.1% benign(0) tolerated(0.58) neutral(0.005) NULL LCORL 254251 genome.wustl.edu 37 4 17847524 17847524 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153686.7 -1 reviewed p.G259 1.000 273 0% 215 25.1% 3 33.3% benign(0) deleterious(0.02) neutral(0.383) NULL LCORL 254251 genome.wustl.edu 37 4 17885915 17885915 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000382226 -1 known p.K413E 1.000 343 0% 230 32.2% 2 50% possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL SLIT2 9353 genome.wustl.edu 37 4 20555481 20555481 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004787.1 +1 provisional p.D872G 1.000 359 0% 314 12.4% 0 - benign(0.007) deleterious(0.04) neutral(0.349) HMMSmart_SM00082 SLC34A2 10568 genome.wustl.edu 37 4 25664152 25664152 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006424.2 +1 reviewed p.A10 0.992 69 0% 63 27% 40 52.5% - - - NULL ARAP2 116984 genome.wustl.edu 37 4 36195265 36195265 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015230.2 -1 reviewed p.R498C 1.000 301 0% 236 32.2% 4 75% benign(0.234) tolerated(0.12) neutral(0.284) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KIAA1239 57495 genome.wustl.edu 37 4 37448157 37448157 + Missense_Mutation SNP G G A rs182757268 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001144990.1 +1 validated p.R1516H 1.000 178 0% 144 32.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_WD40_like C4orf19 55286 genome.wustl.edu 37 4 37592019 37592019 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001104629.1 +1 validated p.S114 0.000 32 0% 34 38.2% 37 27% - - - NULL TBC1D1 23216 genome.wustl.edu 37 4 38117333 38117333 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015173.2 +1 validated p.R854* 1.000 237 0% 207 30% 66 10.6% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p RFC1 5981 genome.wustl.edu 37 4 39344023 39344023 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002913.3 -1 reviewed p.V91 0.049 789 0% 741 29.8% 1 100% - - - NULL LIAS 11019 genome.wustl.edu 37 4 39472860 39472860 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006859.2 +1 reviewed p.L296 0.507 315 0% 454 27.3% 11 36.3% - - - HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 BEND4 389206 genome.wustl.edu 37 4 42119580 42119580 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_207406.3 -1 validated p.Q520H 1.000 149 0% 143 34.3% 0 - possibly_damaging(0.677) deleterious(0) deleterious(0.685) NULL GNPDA2 132789 genome.wustl.edu 37 4 44724218 44724218 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138335.1 -1 provisional p.L3F 1.000 176 0% 219 32.9% 3 0% possibly_damaging(0.523) deleterious(0.01) deleterious(0.582) superfamily_NagB/RpiA/CoA transferase-like GABRG1 2565 genome.wustl.edu 37 4 46053439 46053439 + Splice_Site SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173536.3 -1 reviewed e8+2 1.000 243 0% 150 37.3% 0 - - - - - FRYL 285527 genome.wustl.edu 37 4 48517068 48517068 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015030.1 -1 validated p.E2638 0.999 370 0% 317 30.6% 9 33.3% - - - superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48542817 48542817 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015030.1 -1 validated p.R1950* 1.000 276 0% 238 37.4% 1 100% - - - superfamily_ARM repeat LRRC66 339977 genome.wustl.edu 37 4 52860784 52860784 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001024611.1 -1 provisional p.L802M 0.000 119 0% 100 39% 0 - benign(0.004) tolerated(0.15) neutral(0.241) NULL LNX1 84708 genome.wustl.edu 37 4 54344841 54344841 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001126328.1 -1 reviewed p.L518 0.974 501 0.6% 480 37.3% 5 100% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like CLOCK 9575 genome.wustl.edu 37 4 56329897 56329897 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004898.2 -1 reviewed p.T172A 1.000 184 0% 161 32.3% 2 50% benign(0.023) deleterious(0.03) neutral(0.365) HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain) AASDH 132949 genome.wustl.edu 37 4 57216101 57216101 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181806.2 -1 validated p.S606T 0.000 110 0% 66 28.8% 5 20% benign(0.002) tolerated(0.68) neutral(0.002) HMMPfam_PP-binding,superfamily_ACP-like LPHN3 23284 genome.wustl.edu 37 4 62849268 62849268 + Silent SNP C C G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000502815 +1 known p.H451D 1.000 565 0% 564 31% 0 - - - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like TECRL 253017 genome.wustl.edu 37 4 65147244 65147244 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001010874.4 -1 validated p.N289S 1.000 229 0% 185 23.2% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL EPHA5 2044 genome.wustl.edu 37 4 66233089 66233089 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004439.5 -1 reviewed p.F637S 1.000 340 0% 271 35.4% 0 - benign(0.001) tolerated(0.08) neutral(0.300) NULL CENPC1 1060 genome.wustl.edu 37 4 68385046 68385046 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001812.2 -1 reviewed p.V169A 0.000 383 0% 313 31.6% 6 16.6% benign(0.156) tolerated(0.51) neutral(0.023) NULL SLC4A4 8671 genome.wustl.edu 37 4 72338842 72338842 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000512686 +1 known p.L642F 0.005 44 0% 17 23.5% 0 - unknown(0) deleterious(0) - NULL ADAMTS3 9508 genome.wustl.edu 37 4 73149207 73149207 + Silent SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014243.1 -1 reviewed p.S1088 0.788 189 0% 183 36.1% 0 - - - - NULL PF4 5196 genome.wustl.edu 37 4 74846960 74846960 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002619.2 -1 validated p.P89 0.000 357 0% 470 30.4% 2 100% - - - HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 BTC 685 genome.wustl.edu 37 4 75695344 75695344 + Silent SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000512743 -1 known p.W8L 0.995 178 0% 181 37.6% 2 50% - - - NULL PPEF2 5470 genome.wustl.edu 37 4 76813014 76813014 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006239.2 -1 reviewed p.D58G 1.000 43 0% 71 18.3% 0 - probably_damaging(0.998) tolerated(0.15) deleterious(0.716) NULL FRAS1 80144 genome.wustl.edu 37 4 79240123 79240123 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025074.6 +1 reviewed p.S707I 0.990 237 0% 215 31.2% 1 100% benign(0.005) deleterious(0.03) neutral(0.364) superfamily_Growth factor receptor domain FRAS1 80144 genome.wustl.edu 37 4 79301122 79301122 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025074.6 +1 reviewed p.R1178C 0.959 160 0% 163 34.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL BMP3 651 genome.wustl.edu 37 4 81967317 81967317 + Missense_Mutation SNP G G A rs140292630 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001201.2 +1 reviewed p.A248T 1.000 145 0.7% 102 30.4% 0 - probably_damaging(0.956) deleterious(0.03) deleterious(0.764) NULL HSD17B11 51170 genome.wustl.edu 37 4 88295926 88295926 + Nonsense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016245.3 -1 validated p.Y125* 0.928 339 0% 413 27.6% 9 22.2% - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains HERC5 51191 genome.wustl.edu 37 4 89408237 89408237 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016323.2 +1 reviewed p.V623 0.000 332 0% 336 36% 14 42.8% - - - NULL HERC5 51191 genome.wustl.edu 37 4 89425453 89425453 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016323.2 +1 reviewed p.R885W 1.000 232 0% 209 28.7% 44 54.5% possibly_damaging(0.937) tolerated(0.19) neutral(0.432) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain ATOH1 474 genome.wustl.edu 37 4 94750484 94750484 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005172.1 +1 reviewed p.V136A 0.008 36 0% 33 27.3% 0 - benign(0.003) tolerated(1) - NULL PDHA2 5161 genome.wustl.edu 37 4 96761738 96761738 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005390.4 +1 validated p.G146E 0.994 161 0% 205 24.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_E1_dh,superfamily_SSF52518 TSPAN5 10098 genome.wustl.edu 37 4 99397577 99397577 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005723.3 -1 reviewed p.A204V 1.000 239 0% 310 31% 2 50% benign(0) tolerated(1) - superfamily_Tetraspanin,HMMPfam_Tetraspannin METAP1 23173 genome.wustl.edu 37 4 99916939 99916939 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015143.2 +1 validated p.D12G 0.984 14 0% 34 26.5% 12 41.6% benign(0.072) tolerated(0.17) neutral(0.064) NULL ADH4 127 genome.wustl.edu 37 4 100063907 100063907 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000670.3 -1 reviewed p.A15T 0.951 87 0% 73 34.2% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_GroES-like DNAJB14 79982 genome.wustl.edu 37 4 100826815 100826815 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001031723.2 -1 validated p.L261I 1.000 251 0% 244 43.9% 6 66.6% benign(0.016) tolerated(0.89) neutral(0.001) NULL AGXT2L1 64850 genome.wustl.edu 37 4 109669187 109669187 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031279.3 -1 validated p.A352 0.901 578 0% 608 10% 0 - - - - HMMPfam_Aminotran_3,superfamily_PLP-dependent transferases CASP6 839 genome.wustl.edu 37 4 110618918 110618918 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001226.3 -1 reviewed p.M30I 0.000 521 0% 547 32.2% 32 50% benign(0) tolerated(0.27) neutral(0.034) NULL C4orf21 55345 genome.wustl.edu 37 4 113540203 113540203 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000505019 -1 known p.S332Y 0.855 185 0% 194 31.4% 0 - probably_damaging(0.99) tolerated(0.09) deleterious(0.738) NULL PRSS12 8492 genome.wustl.edu 37 4 119259455 119259455 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003619.2 -1 reviewed p.R173C 0.072 282 0% 305 29.8% 0 - possibly_damaging(0.862) tolerated(0.05) deleterious(0.678) HMMPfam_SRCR,superfamily_Kringle-like,HMMSmart_SM00202,superfamily_SRCR-like SEC24D 9871 genome.wustl.edu 37 4 119649787 119649787 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014822.2 -1 reviewed p.G963R 1.000 583 0% 441 30.8% 20 40% possibly_damaging(0.591) deleterious(0) deleterious(0.648) HMMPfam_Gelsolin,superfamily_C-terminal gelsolin-like domain of Sec23/24 TRPC3 7222 genome.wustl.edu 37 4 122824151 122824151 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001130698.1 -1 validated p.G773 0.687 286 0% 237 33.8% 0 - - - - NULL FAT4 79633 genome.wustl.edu 37 4 126372320 126372320 + Silent SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024582.4 +1 validated p.G3383 1.000 211 0% 210 33.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126372443 126372443 + Silent SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024582.4 +1 validated p.T3424 0.998 241 0% 236 25.8% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like INTU 27152 genome.wustl.edu 37 4 128565022 128565022 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015693.3 +1 validated p.V165I 0.918 150 0% 181 26.5% 0 - benign(0.001) tolerated(0.46) neutral(0.012) NULL CCRN4L 25819 genome.wustl.edu 37 4 139964399 139964399 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012118.2 +1 reviewed p.R121Q 1.000 112 0% 105 30.5% 5 80% possibly_damaging(0.707) tolerated(0.23) neutral(0.296) NULL TBC1D9 23158 genome.wustl.edu 37 4 141580745 141580745 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015130.2 -1 validated p.V640M 1.000 174 0% 225 24% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p SMARCA5 8467 genome.wustl.edu 37 4 144468002 144468002 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003601.2 +1 reviewed p.I865T 1.000 332 0% 340 29.1% 58 58.6% benign(0.011) tolerated(0.06) neutral(0.323) HMMSmart_SANT,superfamily_Homeodomain_like,superfamily_SSF52540 ZNF827 152485 genome.wustl.edu 37 4 146813469 146813469 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_178835.3 -1 validated p.G398S 1.000 243 0% 282 30.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 EDNRA 1909 genome.wustl.edu 37 4 148461045 148461045 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001957.3 +1 reviewed p.R326H 1.000 611 0% 567 33.7% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARHGAP10 79658 genome.wustl.edu 37 4 148867849 148867849 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024605.3 +1 validated p.Y462C 1.000 334 0% 441 28.6% 0 - possibly_damaging(0.924) deleterious(0) deleterious(0.818) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ARHGAP10 79658 genome.wustl.edu 37 4 148876522 148876522 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024605.3 +1 validated p.A483T 1.000 448 0% 295 27.5% 1 0% benign(0.328) deleterious(0.01) deleterious(0.509) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP FBXW7 55294 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G A rs149680468 TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033632.2 -1 reviewed p.R505C 1.000 270 0% 268 38.1% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MND1 84057 genome.wustl.edu 37 4 154335930 154335930 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032117.2 +1 validated p.A180D 1.000 106 0% 99 22.2% 13 53.8% probably_damaging(0.961) deleterious(0) deleterious(0.849) HMMPfam_Mnd1 KIAA0922 23240 genome.wustl.edu 37 4 154557617 154557617 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015196.3 +1 validated p.P1573 0.008 237 0% 263 31.9% 15 60% - - - NULL TMEM144 55314 genome.wustl.edu 37 4 159158770 159158770 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018342.4 +1 validated p.S219 0.002 210 0% 198 31.3% 6 83.3% - - - HMMPfam_DUF1632 C4orf45 152940 genome.wustl.edu 37 4 159836405 159836405 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152543.2 -1 validated p.A155T 0.001 430 0% 386 34.7% 0 - probably_damaging(1) tolerated(0.25) deleterious(0.537) NULL TKTL2 84076 genome.wustl.edu 37 4 164394795 164394795 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032136.4 -1 validated p.T31M 0.997 44 0% 78 39.7% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Transketolase_N,superfamily_SSF52518 ANP32C 23520 genome.wustl.edu 37 4 165118696 165118696 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012403.1 -1 reviewed p.S56 1.000 384 0% 358 27.4% 0 - - - - superfamily_L domain-like DDX60 55601 genome.wustl.edu 37 4 169204596 169204596 + Splice_Site SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017631.5 -1 validated e12+1 0.943 235 0% 181 28.2% 0 - - - - - HMGB2 3148 genome.wustl.edu 37 4 174253307 174253309 + In_Frame_Del DEL TTC TTC - novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001130688.1 -1 reviewed p.K184in_frame_del 0.982:0.999:1.000 - - - - - - - - - NULL NEIL3 55247 genome.wustl.edu 37 4 178281685 178281685 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018248.2 +1 validated p.P497T 0.000 135 0% 131 27.5% 2 50% benign(0) tolerated(1) - NULL ENPP6 133121 genome.wustl.edu 37 4 185039027 185039027 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153343.3 -1 validated p.I187T 1.000 103 0% 101 32.7% 0 - possibly_damaging(0.68) deleterious(0.01) deleterious(0.648) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core PDLIM3 27295 genome.wustl.edu 37 4 186435902 186435902 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001114107.2 -1 reviewed p.A158V 1.000 268 0.4% 276 33% 1 0% possibly_damaging(0.848) tolerated(0.07) deleterious(0.645) HMMSmart_ZM FAM149A 25854 genome.wustl.edu 37 4 187075653 187075653 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001006655.2 +1 validated p.A82T 0.000 265 0% 294 30.6% 33 45.4% benign(0.014) tolerated(0.56) neutral(0.007) NULL FAT1 2195 genome.wustl.edu 37 4 187542067 187542067 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005245.3 -1 reviewed p.P1891 0.983 221 0% 243 36.2% 11 63.6% - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like AHRR 57491 genome.wustl.edu 37 5 433026 433026 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020731.3 +1 reviewed p.G381D 0.000 38 0% 33 27.3% 0 - benign(0.022) deleterious(0.04) neutral(0.350) NULL TPPP 11076 genome.wustl.edu 37 5 665247 665247 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007030.2 -1 validated p.T210 0.992 50 0% 72 26.4% 0 - - - - HMMPfam_p25-alpha IRX4 50805 genome.wustl.edu 37 5 1879863 1879863 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016358.2 -1 validated p.H164R 1.000 251 0% 325 30.2% 0 - unknown(0) - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SEMA5A 9037 genome.wustl.edu 37 5 9197323 9197323 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003966.2 -1 reviewed p.R342H 1.000 115 0.9% 112 24.1% 1 100% probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema MARCH6 10299 genome.wustl.edu 37 5 10410326 10410326 + Silent SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005885.2 +1 provisional p.G543 0.992 199 0% 202 29.2% 48 41.6% - - - NULL TRIO 7204 genome.wustl.edu 37 5 14291190 14291190 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007118.2 +1 validated p.A302 0.045 69 0% 85 31.8% 3 66.6% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ZNF622 90441 genome.wustl.edu 37 5 16465181 16465181 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033414.2 -1 provisional p.S198 0.001 73 0% 69 30.4% 20 30% - - - NULL CDH10 1008 genome.wustl.edu 37 5 24535908 24535908 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006727.2 -1 reviewed p.A184T 1.000 204 0% 179 27.9% 0 - probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin RXFP3 51289 genome.wustl.edu 37 5 33937051 33937051 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016568.3 +1 validated p.G69D 0.006 136 0% 151 33.1% 0 - possibly_damaging(0.587) tolerated(0.3) neutral(0.231) NULL IL7R 3575 genome.wustl.edu 37 5 35867505 35867505 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002185.2 +1 reviewed p.I107L 0.097 224 0% 197 24.9% 0 - benign(0.051) deleterious(0.02) neutral(0.386) NULL NUP155 9631 genome.wustl.edu 37 5 37314336 37314336 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153485.1 -1 reviewed p.E800 0.994 271 0% 241 35.3% 7 42.8% - - - HMMPfam_Nucleoporin EGFLAM 133584 genome.wustl.edu 37 5 38412738 38412738 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152403.2 +1 validated p.T494 0.036 74 0% 74 33.8% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 RICTOR 253260 genome.wustl.edu 37 5 38991171 38991171 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152756.3 -1 validated p.T155A 1.000 202 0% 246 26.4% 0 - benign(0.201) tolerated(0.93) neutral(0.019) superfamily_ARM repeat HCN1 348980 genome.wustl.edu 37 5 45461949 45461949 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021072.2 -1 validated p.V337A 1.000 111 0% 103 34% 0 - benign(0.007) tolerated(0.6) neutral(0.004) HMMPfam_Ion_trans,superfamily_SSF81324 ITGA1 3672 genome.wustl.edu 37 5 52206093 52206093 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181501.1 +1 reviewed p.C567 0.084 166 0% 162 26.5% 5 0% - - - HMMSmart_Int_alpha,superfamily_SSF69318 MOCS2 4338 genome.wustl.edu 37 5 52404357 52404357 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_176806.2 -1 reviewed p.H45Q 1.000 485 0% 524 35.3% 24 50% probably_damaging(0.991) tolerated(0.28) deleterious(0.476) HMMPfam_ThiS,superfamily_Mo_synth/thiamin_syn_S_b-grasp SNX18 112574 genome.wustl.edu 37 5 53815477 53815477 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052870.2 +1 reviewed p.V565 0.000 140 0% 254 33.1% 0 - - - - HMMPfam_BAR_3_WASP_bdg GZMK 3003 genome.wustl.edu 37 5 54327361 54327361 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002104.2 +1 reviewed p.R178Q 0.996 104 0% 98 28.6% 12 0% probably_damaging(0.992) tolerated(0.07) deleterious(0.766) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CCNO 10309 genome.wustl.edu 37 5 54527555 54527555 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021147.3 -1 validated p.S234N 1.000 27 0% 31 22.6% 19 36.8% benign(0.001) tolerated(1) - HMMPfam_Cyclin_C,HMMSmart_SM00385,superfamily_Cyclin-like DEPDC1B 55789 genome.wustl.edu 37 5 59901626 59901626 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018369.2 -1 validated p.L319P 1.000 235 0% 214 32.7% 13 23% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,superfamily_GTPase activation domain GAP LRRC70 100130733 genome.wustl.edu 37 5 61876402 61876402 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181506.4 +1 validated p.I379 0.785 114 0% 66 31.8% 2 50% - - - HMMSmart_LRRCT,superfamily_SSF52058 RGS7BP 401190 genome.wustl.edu 37 5 63803630 63803630 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001029875.1 +1 provisional p.A86 0.066 131 0% 166 28.3% 0 - - - - NULL ADAMTS6 11174 genome.wustl.edu 37 5 64587205 64587205 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_197941.2 -1 reviewed p.E488G 1.000 192 0% 237 31.2% 0 - possibly_damaging(0.869) tolerated(0.09) deleterious(0.633) NULL BDP1 55814 genome.wustl.edu 37 5 70834886 70834886 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018429.2 +1 reviewed p.E1970D 0.913 317 0% 346 25.7% 1 0% possibly_damaging(0.565) deleterious(0) deleterious(0.637) NULL ZNF366 167465 genome.wustl.edu 37 5 71739996 71739996 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152625.1 -1 provisional p.G608R 0.955 27 0% 28 42.9% 1 0% possibly_damaging(0.901) tolerated(0.06) deleterious(0.679) NULL TMEM171 134285 genome.wustl.edu 37 5 72419332 72419332 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173490.6 +1 validated p.F44 1.000 260 0% 328 32.9% 1 100% - - - NULL RGNEF 64283 genome.wustl.edu 37 5 73200220 73200220 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080479.2 +1 reviewed p.Y1384C 0.996 526 0% 639 34% 36 52.7% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL AGGF1 55109 genome.wustl.edu 37 5 76332528 76332528 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018046.3 +1 validated p.G222S 1.000 118 0% 127 37% 8 75% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PDE8B 8622 genome.wustl.edu 37 5 76645261 76645261 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003719.2 +1 validated p.F298 0.932 116 0% 140 29.3% 0 - - - - HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain) PDE8B 8622 genome.wustl.edu 37 5 76721659 76721659 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003719.2 +1 validated p.I829T 1.000 327 0% 288 28.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like PAPD4 167153 genome.wustl.edu 37 5 78915557 78915557 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001114393.1 +1 validated p.V29A 1.000 383 0% 494 36.8% 18 33.3% benign(0.002) tolerated(0.15) neutral(0.241) NULL ZFYVE16 9765 genome.wustl.edu 37 5 79768682 79768682 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001105251.1 +1 validated p.V1376A 0.924 260 0% 267 20.2% 23 13% benign(0.393) tolerated(0.58) neutral(0.131) NULL RASA1 5921 genome.wustl.edu 37 5 86645120 86645120 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002890.1 +1 reviewed p.R398* 1.000 321 0.3% 184 31% 2 50% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain RASA1 5921 genome.wustl.edu 37 5 86672237 86672237 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002890.1 +1 reviewed p.L680S 1.000 267 0% 264 30.7% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) GPR98 84059 genome.wustl.edu 37 5 89938497 89938497 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032119.3 +1 reviewed p.R762H 1.000 328 0.6% 250 30% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL GPR98 84059 genome.wustl.edu 37 5 90119340 90119340 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032119.3 +1 reviewed p.S5432F 0.682 255 0% 337 28.2% 0 - benign(0) tolerated(0.45) neutral(0.012) NULL ANKRD32 84250 genome.wustl.edu 37 5 94022375 94022375 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032290.3 +1 validated p.L691 0.866 364 0% 397 30.5% 3 66.6% - - - NULL EFNA5 1946 genome.wustl.edu 37 5 106717069 106717069 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001962.2 -1 reviewed p.V192I 1.000 202 0% 232 34.9% 5 100% benign(0.005) tolerated(0.42) neutral(0.014) NULL APC 324 genome.wustl.edu 37 5 112174655 112174655 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000038.4 +1 reviewed p.N1122D 1.000 103 0% 105 29.5% 1 100% benign(0.03) deleterious(0.03) neutral(0.366) NULL APC 324 genome.wustl.edu 37 5 112177477 112177477 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000038.4 +1 reviewed p.K2062 0.973 172 0% 152 30.3% 2 50% - - - NULL DMXL1 1657 genome.wustl.edu 37 5 118440935 118440935 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005509.4 +1 validated p.I116V 1.000 269 0% 245 35.1% 1 0% benign(0.001) tolerated(0.21) neutral(0.044) HMMSmart_SM00320,superfamily_WD40 repeat-like FTMT 94033 genome.wustl.edu 37 5 121188192 121188192 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_177478.1 +1 validated p.H178 0.435 77 0% 75 40% 0 - - - - HMMPfam_Ferritin,superfamily_Ferritin/RR_like PPIC 5480 genome.wustl.edu 37 5 122372309 122372309 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000943.4 -1 reviewed p.G4 0.000 9 0.000 22 0.273 95 43.1% - - - NULL ADAMTS19 171019 genome.wustl.edu 37 5 129070708 129070708 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_133638.3 +1 reviewed p.C1126 0.975 218 0% 141 32.6% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat CHSY3 337876 genome.wustl.edu 37 5 129520096 129520096 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_175856.4 +1 validated p.T421A 1.000 119 0% 131 28.2% 2 50% probably_damaging(0.984) tolerated(0.21) deleterious(0.474) HMMPfam_CHGN DDX46 9879 genome.wustl.edu 37 5 134109506 134109506 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014829.2 +1 reviewed p.E190K 1.000 344 0.3% 582 33.3% 21 52.3% probably_damaging(0.968) tolerated(0.46) neutral(0.422) NULL H2AFY 9555 genome.wustl.edu 37 5 134670828 134670828 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138610.2 -1 reviewed p.N319 0.979 135 0% 192 38% 284 42.2% - - - HMMPfam_Macro,HMMSmart_SM00506,superfamily_Macro domain-like ETF1 2107 genome.wustl.edu 37 5 137853287 137853287 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004730.2 -1 validated p.T122M 1.000 285 0% 358 26% 45 40% possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_eRF1_1,superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1 LRRTM2 26045 genome.wustl.edu 37 5 138209840 138209840 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015564.2 -1 validated p.N137I 1.000 341 0% 324 19.4% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like HBEGF 1839 genome.wustl.edu 37 5 139722236 139722236 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001945.2 -1 validated p.R128W 0.959 200 0% 263 37.6% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EGF,superfamily_EGF/Laminin APBB3 10307 genome.wustl.edu 37 5 139940623 139940623 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006051.3 -1 reviewed p.L306P 1.000 163 0% 204 13.7% 6 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like PCDHA2 56146 genome.wustl.edu 37 5 140176746 140176746 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018905.2 +1 reviewed p.A733T 0.002 56 0% 87 36.8% 0 - benign(0.001) tolerated(0.15) neutral(0.241) NULL PCDHA4 56144 genome.wustl.edu 37 5 140188800 140188800 + Silent SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018907.2 +1 reviewed p.P676 0.000 45 0% 60 20% 6 0% - - - HMMSmart_SM00112 PCDHA6 56142 genome.wustl.edu 37 5 140208774 140208774 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018909.2 +1 reviewed p.G366 0.045 184 0% 263 23.6% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140222304 140222304 + Missense_Mutation SNP G G C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018911.2 +1 reviewed p.E466D 1.000 34 0% 45 62.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHB4 56131 genome.wustl.edu 37 5 140503806 140503806 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018938.2 +1 reviewed p.G742 1.000 99 0% 136 27.9% 0 - - - - NULL PCDHB15 56121 genome.wustl.edu 37 5 140627113 140627113 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018935.2 +1 reviewed p.A656V 0.673 19 0% 24 33.3% 0 - benign(0) tolerated(1) - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SLC25A2 83884 genome.wustl.edu 37 5 140683162 140683162 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031947.2 -1 reviewed p.F91L 0.544 111 0% 152 35.5% 0 - benign(0) tolerated(0.76) neutral(0.001) superfamily_Mitoch_carrier,HMMPfam_Mito_carr PCDHGA2 56113 genome.wustl.edu 37 5 140720411 140720411 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018915.2 +1 reviewed p.E625K 0.999 57 0% 66 40.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140724324 140724324 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018916.3 +1 reviewed p.F242L 0.999 77 0% 115 30.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140750473 140750473 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018924.2 +1 reviewed p.Y171C 0.006 210 0% 243 13.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140751747 140751747 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018924.2 +1 reviewed p.A596T 0.589 34 0% 35 37.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140767972 140767972 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003736.2 +1 reviewed p.P174L 0.000 166 0% 193 37.8% 0 - benign(0.001) tolerated(0.1) neutral(0.286) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140799050 140799050 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018927.2 +1 reviewed p.L542F 0.993 18 0% 37 27% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DIAPH1 1729 genome.wustl.edu 37 5 140953362 140953362 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005219.4 -1 reviewed p.A685 0.001 15 0% 21 19% 54 44.4% - - - HMMPfam_Drf_FH1 KIAA0141 9812 genome.wustl.edu 37 5 141318089 141318089 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142603.1 +1 validated p.P438L 0.000 179 0% 195 31.8% 35 45.7% benign(0) deleterious(0) neutral(0.445) NULL SPRY4 81848 genome.wustl.edu 37 5 141694531 141694531 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030964.3 -1 validated p.V71A 0.996 27 0% 31 38.7% 6 50% benign(0) tolerated(1) - NULL AFAP1L1 134265 genome.wustl.edu 37 5 148699216 148699216 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152406.2 +1 validated p.P517 0.002 126 0% 170 24.1% 3 100% - - - superfamily_PH domain-like HMGXB3 22993 genome.wustl.edu 37 5 149431554 149431554 + Silent SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014983.2 +1 validated p.T1226 0.985 143 0% 187 34.8% 41 41.4% - - - NULL NDST1 3340 genome.wustl.edu 37 5 149932869 149932869 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001543.4 +1 validated p.R875Q 1.000 96 0% 114 28.1% 24 50% possibly_damaging(0.502) tolerated(0.19) neutral(0.217) superfamily_P-loop containing nucleoside triphosphate hydrolases FAT2 2196 genome.wustl.edu 37 5 150887017 150887017 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001447.2 -1 reviewed p.R4072H 0.012 126 0% 128 28.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL FAT2 2196 genome.wustl.edu 37 5 150947811 150947811 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001447.2 -1 reviewed p.R228W 0.973 58 0% 79 29.1% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMSmart_SM00112,superfamily_Cadherin-like GLRA1 2741 genome.wustl.edu 37 5 151202325 151202325 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000171.3 -1 reviewed p.R420H 1.000 427 0% 426 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GALNT10 55568 genome.wustl.edu 37 5 153709281 153709281 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198321.3 +1 reviewed p.D184G 1.000 131 0% 163 25.2% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases KIF4B 285643 genome.wustl.edu 37 5 154395199 154395199 + Silent SNP C C T rs139510975 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001099293.1 +1 provisional p.L594 1.000 237 0% 314 31.5% 0 - - - - NULL TIMD4 91937 genome.wustl.edu 37 5 156378762 156378762 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138379.2 -1 validated p.R147H 0.000 1202 0% 1581 31.5% 2 50% possibly_damaging(0.907) tolerated(0.08) deleterious(0.660) NULL ADRA1B 147 genome.wustl.edu 37 5 159344757 159344757 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000679.3 +1 reviewed p.K282R 1.000 79 0% 66 42.4% 2 0% benign(0.115) tolerated(0.42) neutral(0.023) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GABRB2 2561 genome.wustl.edu 37 5 160758024 160758024 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021911.2 -1 reviewed p.F315L 1.000 420 0% 480 30% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM WWC1 23286 genome.wustl.edu 37 5 167855038 167855038 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015238.2 +1 reviewed p.A604V 0.764 241 0% 293 30% 40 37.5% benign(0.01) tolerated(0.3) neutral(0.029) NULL SH3PXD2B 285590 genome.wustl.edu 37 5 171821625 171821625 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001017995.2 -1 validated p.R84Q 0.597 163 0% 155 41.9% 0 - probably_damaging(0.998) tolerated(0.16) deleterious(0.534) HMMPfam_PX,HMMSmart_PX,superfamily_PX MSX2 4488 genome.wustl.edu 37 5 174156278 174156278 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002449.4 +1 reviewed p.Y166H 1.000 106 0% 152 38.2% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like DRD1 1812 genome.wustl.edu 37 5 174869607 174869607 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000794.3 -1 reviewed p.A166T 1.000 227 0% 272 27.6% 0 - benign(0.047) tolerated(0.28) neutral(0.035) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RNF44 22838 genome.wustl.edu 37 5 175956344 175956344 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014901.4 -1 reviewed p.R394Q 1.000 79 0% 64 31.2% 55 49% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 TSPAN17 26262 genome.wustl.edu 37 5 176084557 176084557 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012171.1 +1 validated p.T286M 0.000 76 0% 77 29.9% 79 31.6% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL NSD1 64324 genome.wustl.edu 37 5 176707683 176707683 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022455.4 +1 reviewed p.R1914C 1.000 148 0% 180 27.2% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00570,superfamily_SET domain RAB24 53917 genome.wustl.edu 37 5 176729796 176729796 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001031677.2 -1 validated p.S74R 1.000 114 0% 144 33.3% 50 38% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 PDLIM7 9260 genome.wustl.edu 37 5 176915112 176915112 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005451.3 -1 reviewed p.R336H 1.000 65 0% 78 32.1% 174 40.8% probably_damaging(0.984) tolerated(0.18) deleterious(0.486) superfamily_Glucocorticoid receptor-like (DNA-binding domain) FAM153C 653316 genome.wustl.edu 37 5 177459829 177459829 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000511856 +1 known p.T39 0.001 276 0% 245 22% 0 - - - - NULL ZNF354A 6940 genome.wustl.edu 37 5 178139541 178139541 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005649.2 -1 validated p.A446 0.943 253 0% 207 16.9% 7 14.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354B 117608 genome.wustl.edu 37 5 178309720 178309720 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_058230.2 +1 validated p.S89 0.001 97 0% 76 31.6% 4 25% - - - NULL GRM6 2916 genome.wustl.edu 37 5 178413560 178413560 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000843.3 -1 reviewed p.T565 0.000 19 0.000 7 0.714 0 - - - - NULL TBC1D9B 23061 genome.wustl.edu 37 5 179326287 179326287 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198868.2 -1 validated p.T84A 1.000 481 0% 549 29.5% 59 40.6% probably_damaging(0.999) tolerated(0.44) deleterious(0.503) NULL RNF130 55819 genome.wustl.edu 37 5 179467519 179467519 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018434.4 -1 reviewed p.N126D 1.000 321 0% 393 33.3% 2 50% probably_damaging(0.998) tolerated(0.16) deleterious(0.534) HMMPfam_PA,superfamily_SSF52025 FLT4 2324 genome.wustl.edu 37 5 180043957 180043957 + Missense_Mutation SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182925.4 -1 reviewed p.D1013E 1.000 75 0% 105 33.3% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) FLT4 2324 genome.wustl.edu 37 5 180048646 180048646 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182925.4 -1 reviewed p.S639N 0.997 20 0% 25 24% 1 0% benign(0) tolerated(0.59) neutral(0.004) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin BTNL8 79908 genome.wustl.edu 37 5 180377435 180377435 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001040462.2 +1 validated p.E465V 0.001 192 0% 194 35.1% 0 - possibly_damaging(0.811) tolerated(0.09) deleterious(0.602) NULL TRIM41 90933 genome.wustl.edu 37 5 180651056 180651056 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033549.3 +1 validated p.V19 1.000 60 0% 66 31.8% 12 66.6% - - - superfamily_RING/U-box ENSG00000247767 0 genome.wustl.edu 37 6 2900665 2900665 + RNA SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000499208 +1 novel NULL 0.000 123 0% 170 24.1% 0 - - - - - NQO2 4835 genome.wustl.edu 37 6 3015821 3015821 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000904.3 +1 validated p.L121 1.000 115 0% 196 34.2% 109 44.9% - - - HMMPfam_Flavodoxin_2,superfamily_Flavoproteins TUBB2B 347733 genome.wustl.edu 37 6 3225019 3225019 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_178012.4 -1 reviewed p.E435G 1.000 103 0% 152 30.3% 6 0% unknown(0) deleterious(0) - NULL SLC22A23 63027 genome.wustl.edu 37 6 3284205 3284205 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015482.1 -1 validated p.M528I 1.000 103 0% 129 26.4% 1 0% benign(0.146) tolerated(0.33) neutral(0.037) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A23 63027 genome.wustl.edu 37 6 3287187 3287187 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015482.1 -1 validated p.C484 0.998 61 0% 61 31.1% 3 33.3% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter LOC100287565 100287565 genome.wustl.edu 37 6 5368881 5368881 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002342599.1 -1 model p.A178T 0.002 38 0% 44 18.2% 13 46.1% - - - NULL DSP 1832 genome.wustl.edu 37 6 7582908 7582908 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004415.2 +1 reviewed p.C1805R 1.000 208 0% 298 32.6% 71 43.6% possibly_damaging(0.66) tolerated(0.33) neutral(0.257) superfamily_tRNA-binding arm PHACTR1 221692 genome.wustl.edu 37 6 13283684 13283684 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030948.1 +1 validated p.R514W 0.928 132 0% 171 28.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RPEL,HMMSmart_SM00707 RANBP9 10048 genome.wustl.edu 37 6 13697122 13697122 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005493.2 -1 reviewed p.G193D 1.000 256 0% 271 29.5% 12 75% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL ATXN1 6310 genome.wustl.edu 37 6 16327531 16327531 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000332.3 -1 reviewed p.P337 0.006 41 0% 51 23.5% 0 - - - - NULL CAP2 10486 genome.wustl.edu 37 6 17421845 17421845 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006366.2 +1 reviewed p.S20L 0.161 209 0% 242 36% 2 50% benign(0) deleterious(0.01) neutral(0.406) HMMPfam_CAP_N NHLRC1 378884 genome.wustl.edu 37 6 18121926 18121926 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198586.2 -1 reviewed p.V304 0.050 37 0% 33 27.3% 6 33.3% - - - superfamily_SSF101898 KDM1B 221656 genome.wustl.edu 37 6 18166561 18166561 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153042.3 +1 validated p.T123 0.666 221 0% 297 33.3% 11 72.7% - - - NULL CDKAL1 54901 genome.wustl.edu 37 6 20758843 20758843 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017774.3 +1 reviewed p.R162 0.998 396 0% 384 33.1% 11 54.5% - - - superfamily_Radical SAM enzymes PRL 5617 genome.wustl.edu 37 6 22294763 22294763 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000948.4 -1 validated p.A27T 0.005 56 0% 106 36.8% 0 - benign(0) tolerated(1) - HMMPfam_Hormone_1 HDGFL1 154150 genome.wustl.edu 37 6 22570159 22570159 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138574.2 +1 provisional p.P119S 0.000 20 0% 15 53.3% 0 - benign(0.29) tolerated(0.45) neutral(0.101) superfamily_SSF63748 ALDH5A1 7915 genome.wustl.edu 37 6 24532388 24532388 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_170740.1 +1 reviewed p.A475V 0.185 471 0% 599 31.1% 6 16.6% benign(0.074) deleterious(0.02) neutral(0.388) HMMPfam_Aldedh,superfamily_ALDH-like FAM65B 9750 genome.wustl.edu 37 6 24828457 24828457 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014722.2 -1 validated p.S879L 0.610 62 0% 72 29.2% 2 0% benign(0) tolerated(0.28) neutral(0.032) NULL HIST1H2BB 3018 genome.wustl.edu 37 6 26043717 26043717 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021062.2 -1 reviewed p.S57T 1.000 485 0% 600 28.3% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold HIST1H3C 8352 genome.wustl.edu 37 6 26045860 26045860 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003531.2 +1 reviewed p.E74 1.000 129 0% 124 33.1% 17 64.7% - - - HMMSmart_SM00428,PatternScan_HISTONE_H3_2,HMMPfam_Histone,superfamily_Histone-fold HIST1H1E 3008 genome.wustl.edu 37 6 26157228 26157228 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005321.2 +1 reviewed p.A204T 0.998 11 0% 19 26.3% 1 0% unknown(0) tolerated(1) - NULL HIST1H2BG 8339 genome.wustl.edu 37 6 26216818 26216818 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003518.3 -1 reviewed p.A18 0.042 324 0% 500 29.6% 3 66.6% - - - superfamily_Histone-fold BTN3A1 11119 genome.wustl.edu 37 6 26410251 26410251 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007048.5 +1 validated p.Y319H 0.007 349 0% 460 29.8% 32 50% possibly_damaging(0.91) deleterious(0) deleterious(0.807) NULL ABT1 29777 genome.wustl.edu 37 6 26598524 26598524 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013375.2 +1 reviewed p.S157N 1.000 172 0% 285 29.1% 59 47.4% possibly_damaging(0.931) tolerated(0.1) deleterious(0.664) NULL HIST1H2AG 8969 genome.wustl.edu 37 6 27101079 27101079 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021064.4 +1 reviewed p.T77A 1.000 186 0% 228 34.2% 4 25% benign(0.01) deleterious(0.01) neutral(0.406) HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold ZNF184 7738 genome.wustl.edu 37 6 27420571 27420571 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007149.2 -1 validated p.E256G 0.959 445 0% 294 29.6% 3 66.6% benign(0) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF192 7745 genome.wustl.edu 37 6 28120099 28120099 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006298.2 +1 validated p.P238S 0.932 257 0% 238 26.9% 1 0% benign(0) tolerated(0.76) neutral(0.001) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF323 64288 genome.wustl.edu 37 6 28297193 28297193 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001135215.1 -1 validated p.I90V 0.030 192 0% 206 28.6% 3 0% benign(0.06) deleterious(0) neutral(0.449) HMMPfam_SCAN,HMMSmart_SCAN OR5V1 81696 genome.wustl.edu 37 6 29323303 29323303 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030876.5 -1 validated p.T224A 0.000 78 0% 91 31.9% 0 - benign(0.092) tolerated(1) neutral(0.007) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DDR1 780 genome.wustl.edu 37 6 30862384 30862384 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000361741 +1 known p.R187H 0.932 89 0% 107 39.3% 156 46.1% unknown(0) tolerated(0.25) - NULL CYP21A2 1589 genome.wustl.edu 37 6 32008184 32008184 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000500.5 +1 reviewed p.I314T 0.668 22 0% 18 38.9% 0 - probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_p450,superfamily_Cytochrome_P450 MIR219-1 407002 genome.wustl.edu 37 6 33175657 33175657 + RNA SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000362166 +1 known NULL 1.000 102 0% 122 32.8% 0 - - - - - B3GALT4 8705 genome.wustl.edu 37 6 33246013 33246013 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003782.3 +1 reviewed p.A273T 0.962 59 0% 50 26% 17 23.5% possibly_damaging(0.765) tolerated(0.15) deleterious(0.525) HMMPfam_Galactosyl_T DAXX 1616 genome.wustl.edu 37 6 33289266 33289266 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001141970.1 -1 reviewed p.H108Y 0.823 109 0% 150 26.7% 35 51.4% possibly_damaging(0.873) tolerated(0.85) neutral(0.340) HMMPfam_Daxx KIFC1 3833 genome.wustl.edu 37 6 33374217 33374217 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002263.3 +1 validated p.S594N 1.000 94 0% 101 24.8% 58 51.7% probably_damaging(0.98) tolerated(0.15) deleterious(0.665) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 ETV7 51513 genome.wustl.edu 37 6 36343663 36343663 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016135.2 -1 provisional p.R98C 0.997 87 1.1% 103 30.1% 37 35.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain PPIL1 51645 genome.wustl.edu 37 6 36823635 36823635 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016059.4 -1 reviewed p.R152H 0.999 137 0% 185 24.9% 47 29.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like C6orf89 221477 genome.wustl.edu 37 6 36884249 36884249 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152734.3 +1 validated p.L249I 0.956 274 0% 271 32.8% 37 40.5% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL COX6A1P2 285849 genome.wustl.edu 37 6 37012794 37012794 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000423336 +1 known p.S53 1.000 112 0% 145 32.4% 316 0% - - - HMMPfam_COX6A,superfamily_COX6A MDGA1 266727 genome.wustl.edu 37 6 37626100 37626100 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153487.3 -1 validated p.T101 0.581 37 0% 49 28.6% 3 100% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DNAH8 1769 genome.wustl.edu 37 6 38834385 38834385 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001371.2 +1 validated p.R1956C 1.000 164 0% 181 23.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases C6orf130 221443 genome.wustl.edu 37 6 41036690 41036690 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_145063.2 -1 predicted p.I82 1.000 245 0% 258 33.3% 12 33.3% - - - superfamily_SSF52949 CUL9 23113 genome.wustl.edu 37 6 43172818 43172818 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015089.2 +1 validated p.A1533T 0.995 90 0% 80 26.3% 5 40% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Cullin CRIP3 401262 genome.wustl.edu 37 6 43275369 43275369 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000416431 -1 known p.P51S 0.996 81 0% 144 34% 0 - - - - HMMSmart_SM00132 ABCC10 89845 genome.wustl.edu 37 6 43417262 43417262 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033450.2 +1 reviewed p.I1408F 1.000 65 0% 102 27.5% 28 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 DLK2 65989 genome.wustl.edu 37 6 43419710 43419710 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000430324 -1 known p.A34V 0.775 124 0% 193 32.6% 0 - - - - HMMSmart_SM00179,superfamily_EGF/Laminin GTPBP2 54676 genome.wustl.edu 37 6 43592392 43592392 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019096.3 -1 validated p.D319N 1.000 79 0% 111 35.1% 36 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases TDRD6 221400 genome.wustl.edu 37 6 46657910 46657910 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001010870.2 +1 validated p.H682R 0.000 117 0% 146 21.9% 0 - benign(0.001) tolerated(0.35) neutral(0.021) NULL GPR116 221395 genome.wustl.edu 37 6 46826945 46826945 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001098518.1 -1 validated p.T899A 1.000 289 0% 339 28.9% 1 0% possibly_damaging(0.461) tolerated(0.09) neutral(0.448) NULL OPN5 221391 genome.wustl.edu 37 6 47763200 47763200 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181744.2 +1 reviewed p.Y219 0.732 117 0% 139 32.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OPN5 221391 genome.wustl.edu 37 6 47775997 47775997 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181744.2 +1 reviewed p.S288 0.910 585 0% 568 31.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 GSTA5 221357 genome.wustl.edu 37 6 52697705 52697705 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153699.1 -1 provisional p.Y166 0.003 349 0% 459 32% 0 - - - - HMMPfam_GST_C,superfamily_GST_C_like ICK 22858 genome.wustl.edu 37 6 52877004 52877004 + Frame_Shift_Del DEL G G - novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014920.3 -1 reviewed p.H392fs 0.138 - - - - - - - - - NULL ICK 22858 genome.wustl.edu 37 6 52877006 52877006 + Frame_Shift_Del DEL T T - novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014920.3 -1 reviewed p.E391fs 0.792 - - - - - - - - - NULL ICK 22858 genome.wustl.edu 37 6 52877010 52877015 + In_Frame_Del DEL GGCCAG GGCCAG - novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 GGCCAG GGCCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014920.3 -1 reviewed p.AGL388in_frame_delV 0.112:0.065:0.045:0.060:0.055:0.083 - - - - - - - - - NULL GCM1 8521 genome.wustl.edu 37 6 52999119 52999119 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003643.3 -1 reviewed p.V27M 0.991 188 0% 229 31.4% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_GCM_motif FAM83B 222584 genome.wustl.edu 37 6 54792419 54792419 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001010872.1 +1 validated p.Y241 0.994 303 0% 248 33.1% 2 100% - - - HMMPfam_DUF1669,superfamily_SSF56024 COL21A1 81578 genome.wustl.edu 37 6 55990372 55990372 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030820.3 -1 reviewed p.G548D 1.000 507 0% 489 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Collagen DST 667 genome.wustl.edu 37 6 56335939 56335939 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015548.4 -1 reviewed p.T4806M 1.000 311 0% 268 29.9% 2 0% probably_damaging(1) - - HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand DST 667 genome.wustl.edu 37 6 56480605 56480605 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001723.5 -1 reviewed p.R2554* 0.918 238 0% 200 29.5% 0 - - - - HMMPfam_Plectin,HMMSmart_PLEC,superfamily_SSF75399 ZNF451 26036 genome.wustl.edu 37 6 56999549 56999549 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001031623.2 +1 validated p.H195Y 1.000 314 0% 342 35.7% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers EYS 346007 genome.wustl.edu 37 6 66044890 66044890 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142800.1 -1 reviewed p.D583 0.611 460 0% 262 12.2% 0 - - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin FILIP1 27145 genome.wustl.edu 37 6 76022250 76022250 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015687.2 -1 validated p.E1100K 0.967 194 0% 204 36.8% 1 0% possibly_damaging(0.701) tolerated(0.2) neutral(0.301) NULL FILIP1 27145 genome.wustl.edu 37 6 76063368 76063368 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015687.2 -1 validated p.A172 0.002 258 0% 353 33.1% 0 - - - - HMMPfam_CortBP2 PHIP 55023 genome.wustl.edu 37 6 79651023 79651023 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017934.5 -1 validated p.V1618A 0.262 132 0% 91 33% 6 33.3% benign(0) tolerated(0.48) neutral(0.011) NULL IBTK 25998 genome.wustl.edu 37 6 82924521 82924521 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015525.2 -1 reviewed p.S543P 0.991 113 0% 99 29.3% 6 50% benign(0.002) tolerated(0.32) neutral(0.024) superfamily_POZ domain CYB5R4 51167 genome.wustl.edu 37 6 84618769 84618769 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016230.3 +1 validated p.C124 1.000 406 0% 510 33.7% 12 25% - - - HMMPfam_Cyt-b5,superfamily_Cyt_B5 NT5E 4907 genome.wustl.edu 37 6 86200256 86200256 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002526.2 +1 validated p.V414A 0.998 206 0% 232 35.3% 58 55.1% possibly_damaging(0.842) tolerated(0.1) deleterious(0.609) HMMPfam_5_nucleotid_C,superfamily_5apos-Nucleotdase_C UBE2J1 51465 genome.wustl.edu 37 6 90052043 90052043 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016021.2 -1 reviewed p.T79 1.000 220 0% 233 29.2% 32 40.6% - - - HMMPfam_UQ_con,HMMSmart_UBCc,superfamily_UBQ-conjugat/RWD-like ANKRD6 22881 genome.wustl.edu 37 6 90340652 90340652 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000415924 +1 known p.I618T 0.939 115 0% 159 37.7% 0 - - - - NULL BACH2 60468 genome.wustl.edu 37 6 90660988 90660988 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021813.2 -1 validated p.P279 0.188 116 0% 118 31.4% 0 - - - - NULL SIM1 6492 genome.wustl.edu 37 6 100838448 100838448 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005068.2 -1 reviewed p.N697S 1.000 255 0% 293 23.5% 0 - benign(0.026) tolerated(0.39) neutral(0.017) NULL HACE1 57531 genome.wustl.edu 37 6 105225079 105225079 + Splice_Site SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020771.3 -1 validated e15+2 1.000 226 0% 220 32.3% 0 - - - - - PREP 5550 genome.wustl.edu 37 6 105824093 105824093 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002726.3 -1 reviewed p.R98* 1.000 173 0% 161 32.3% 8 0% - - - HMMPfam_Peptidase_S9_N,superfamily_Peptidase_S9A_N SMPD2 6610 genome.wustl.edu 37 6 109763488 109763488 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003080.2 +1 validated p.A132T 0.973 307 0.7% 435 32.2% 44 50% benign(0.221) tolerated(0.06) neutral(0.345) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos LAMA4 3910 genome.wustl.edu 37 6 112430688 112430688 + Silent SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001105206.1 -1 reviewed p.A1808 0.998 177 0% 182 34.6% 112 53.5% - - - superfamily_Concanavalin A-like lectins/glucanases LAMA4 3910 genome.wustl.edu 37 6 112471735 112471735 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001105206.1 -1 reviewed p.K717 0.003 386 0% 506 32.8% 17 23.5% - - - NULL TSPYL1 7259 genome.wustl.edu 37 6 116600626 116600626 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003309.3 -1 reviewed p.K123R 0.000 47 0% 56 21.4% 18 16.6% benign(0.388) tolerated(0.2) neutral(0.173) NULL ECHDC1 55862 genome.wustl.edu 37 6 127636020 127636020 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018479.3 -1 validated p.A129T 0.028 246 0% 213 26.8% 38 26.3% unknown(0) tolerated(0.26) - NULL SOGA3 387104 genome.wustl.edu 37 6 127796764 127796764 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001012279.2 -1 validated p.G803W 0.803 26 0% 25 44% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL PTPRK 5796 genome.wustl.edu 37 6 128294231 128294231 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001135648.1 -1 validated p.V1408D 1.000 267 0% 312 33.7% 110 50.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 LAMA2 3908 genome.wustl.edu 37 6 129723549 129723549 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000426.3 +1 reviewed p.I1881M 0.218 236 0% 209 31.6% 0 - benign(0) tolerated(0.43) neutral(0.013) superfamily_ConA_like_lec_gl,superfamily_SSF56399 ARHGAP18 93663 genome.wustl.edu 37 6 129962959 129962959 + Splice_Site SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033515.2 -1 validated e2+2 1.000 446 0% 374 31% 0 - - - - - EPB41L2 2037 genome.wustl.edu 37 6 131199329 131199329 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001431.3 -1 validated p.R653H 1.000 489 0% 535 33.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAB VNN1 8876 genome.wustl.edu 37 6 133005624 133005624 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004666.2 -1 reviewed p.C403 0.016 178 0% 153 34.6% 27 25.9% - - - NULL VNN1 8876 genome.wustl.edu 37 6 133032858 133032858 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004666.2 -1 reviewed p.N111D 0.001 225 0% 263 36.9% 15 6.6% benign(0) tolerated(1) - superfamily_Ntlse/CNhydtse SLC2A12 154091 genome.wustl.edu 37 6 134350469 134350469 + Missense_Mutation SNP C C G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_145176.2 -1 validated p.G165A 1.000 166 0% 196 32.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter PEX7 5191 genome.wustl.edu 37 6 137191098 137191098 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000288.3 +1 reviewed p.V235A 0.998 510 0% 424 17.9% 15 46.6% possibly_damaging(0.623) tolerated(0.2) neutral(0.266) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HECA 51696 genome.wustl.edu 37 6 139487580 139487580 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016217.2 +1 reviewed p.Q144L 1.000 51 0% 55 36.4% 9 66.6% possibly_damaging(0.918) tolerated(0.57) neutral(0.374) NULL VTA1 51534 genome.wustl.edu 37 6 142519691 142519691 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016485.3 +1 provisional p.I212M 0.128 223 0% 223 32.3% 55 56.3% probably_damaging(0.988) tolerated(0.14) deleterious(0.687) HMMPfam_DUF605 ADGB 79747 genome.wustl.edu 37 6 147085042 147085042 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024694.3 +1 provisional p.K1186E 1.000 140 0% 113 20.4% 0 - possibly_damaging(0.918) tolerated(0.3) neutral(0.397) NULL STXBP5 134957 genome.wustl.edu 37 6 147581799 147581799 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001127715.1 +1 reviewed p.G160 1.000 296 0% 294 33.3% 3 33.3% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like SASH1 23328 genome.wustl.edu 37 6 148853975 148853975 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015278.3 +1 validated p.R536Q 1.000 151 0% 168 32.1% 8 37.5% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL SYNE1 23345 genome.wustl.edu 37 6 152577787 152577787 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182961.2 -1 reviewed p.F6362 0.058 158 0% 296 33.1% 1 0% - - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152642424 152642424 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182961.2 -1 reviewed p.E5395 0.990 323 0% 335 32.8% 0 - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152642897 152642897 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182961.2 -1 reviewed p.N5348D 1.000 439 0% 539 32.8% 0 - possibly_damaging(0.903) - - NULL SYNE1 23345 genome.wustl.edu 37 6 152688199 152688199 + Missense_Mutation SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000454018 -1 known p.C493G 0.000 44 0% 30 40% 1 0% benign(0) - - NULL SYNE1 23345 genome.wustl.edu 37 6 152730762 152730762 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182961.2 -1 reviewed p.A2105S 1.000 336 0% 355 30.1% 0 - possibly_damaging(0.858) - - HMMSmart_SM00150 SYNE1 23345 genome.wustl.edu 37 6 152787171 152787171 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182961.2 -1 reviewed p.T559A 1.000 308 0% 288 25.7% 1 0% possibly_damaging(0.466) tolerated(1) neutral(0.153) superfamily_Spectrin repeat CNKSR3 154043 genome.wustl.edu 37 6 154763345 154763345 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173515.2 -1 validated p.I99K 0.915 211 0% 269 32.7% 10 30% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_CRIC_ras_sig SCAF8 22828 genome.wustl.edu 37 6 155153581 155153581 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014892.3 +1 validated p.S956 0.021 150 0% 96 35.4% 17 47% - - - NULL FNDC1 84624 genome.wustl.edu 37 6 159653636 159653636 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032532.2 +1 validated p.R698W 0.000 24 0% 40 20% 0 - unknown(0) deleterious(0) - NULL SOD2 6648 genome.wustl.edu 37 6 160114181 160114181 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000636.2 -1 reviewed p.C7R 0.002 13 0% 25 28% 920 50.5% benign(0.055) tolerated(0.07) neutral(0.323) NULL IGF2R 3482 genome.wustl.edu 37 6 160445699 160445699 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000876.2 +1 reviewed p.P203 0.201 373 0% 523 30.2% 15 33.3% - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain SLC22A1 6580 genome.wustl.edu 37 6 160542971 160542971 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003057.2 +1 reviewed p.P2S 0.991 99 0% 136 25.7% 0 - benign(0.016) tolerated(0.83) neutral(0.001) NULL SLC22A2 6582 genome.wustl.edu 37 6 160679604 160679604 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003058.2 -1 reviewed p.R62 0.239 53 0% 65 38.5% 0 - - - - NULL C6orf118 168090 genome.wustl.edu 37 6 165715271 165715271 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144980.3 -1 validated p.P180 0.283 58 0% 49 34.7% 0 - - - - NULL T 6862 genome.wustl.edu 37 6 166575998 166575998 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003181.2 -1 reviewed p.T281A 0.001 174 0% 254 31.1% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL RPS6KA2 6196 genome.wustl.edu 37 6 166827418 166827418 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001006932.1 -1 reviewed p.D655G 1.000 112 0% 98 24.5% 9 0% possibly_damaging(0.496) deleterious(0.01) deleterious(0.571) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RPS6KA2 6196 genome.wustl.edu 37 6 166831741 166831741 + Frame_Shift_Del DEL T T - novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001006932.1 -1 reviewed p.N645fs 0.998 - - - - - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DACT2 168002 genome.wustl.edu 37 6 168708347 168708347 + Missense_Mutation SNP C C T rs139117263 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_214462.3 -1 validated p.R697H 0.094 39 0% 57 22.8% 38 52.6% benign(0) tolerated(0.12) neutral(0.261) NULL THBS2 7058 genome.wustl.edu 37 6 169637352 169637352 + Missense_Mutation SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003247.2 -1 reviewed p.C464G 1.000 99 0% 129 20.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 ELFN1 392617 genome.wustl.edu 37 7 1785069 1785069 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001128636.2 +1 validated p.P279 0.000 12 0% 14 35.7% 0 - - - - NULL SDK1 221935 genome.wustl.edu 37 7 4119166 4119166 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152744.3 +1 validated p.P1092S 0.982 255 0% 381 34.9% 8 50% probably_damaging(0.969) deleterious(0.03) deleterious(0.776) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RADIL 55698 genome.wustl.edu 37 7 4843413 4843413 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000423090 -1 known p.H63Y 0.000 34 0% 50 24% 0 - - - - NULL RBAK 57786 genome.wustl.edu 37 7 5104616 5104616 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021163.3 +1 reviewed p.P510L 0.998 94 0% 84 22.6% 5 40% benign(0.102) deleterious(0.01) neutral(0.414) superfamily_C2H2 and C2HC zinc fingers TNRC18 84629 genome.wustl.edu 37 7 5434156 5434156 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080495.2 -1 provisional p.V86 0.996 42 0% 94 28.7% 15 26.6% - - - NULL THSD7A 221981 genome.wustl.edu 37 7 11485860 11485860 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015204.2 -1 validated p.Q964 1.000 391 0% 335 31.9% 0 - - - - NULL VWDE 221806 genome.wustl.edu 37 7 12410439 12410439 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001135924.1 -1 provisional p.M547L 1.000 109 0% 74 27% 0 - benign(0.131) tolerated(0.4) neutral(0.027) HMMSmart_SM00216 SOSTDC1 25928 genome.wustl.edu 37 7 16502336 16502336 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015464.2 -1 reviewed p.R153H 1.000 268 0% 298 35.9% 177 40.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sclerostin ITGB8 3696 genome.wustl.edu 37 7 20441600 20441600 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002214.2 +1 reviewed p.S513L 0.189 444 0.2% 536 29.9% 19 47.3% benign(0.006) tolerated(0.23) neutral(0.042) HMMPfam_EGF_2,superfamily_EGF/Laminin RAPGEF5 9771 genome.wustl.edu 37 7 22202099 22202099 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012294.3 -1 validated p.R295 0.945 213 0% 250 22.8% 2 50% - - - HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF NFE2L3 9603 genome.wustl.edu 37 7 26217744 26217744 + Splice_Site SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004289.6 +1 reviewed e2+2 0.999 81 0% 118 25.4% 0 - - - - - JAZF1 221895 genome.wustl.edu 37 7 28031622 28031622 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000427814 -1 known p.I18 0.039 240 0% 226 31% 0 - benign(0.01) - - NULL WIPF3 644150 genome.wustl.edu 37 7 29927790 29927790 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000242140 +1 known p.Q402 0.519 78 0% 116 20.7% 1 0% - - - NULL ELMO1 9844 genome.wustl.edu 37 7 37253007 37253007 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014800.9 -1 reviewed p.V296A 1.000 256 0% 249 31.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR141 353345 genome.wustl.edu 37 7 37780273 37780273 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181791.1 +1 provisional p.A93V 0.995 142 0% 113 28.3% 0 - possibly_damaging(0.811) tolerated(0.06) deleterious(0.628) HMMPfam_7tm_1,superfamily_SSF81321 GLI3 2737 genome.wustl.edu 37 7 42065943 42065943 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000168.5 -1 reviewed p.R366Q 1.000 378 0% 684 33.2% 0 - possibly_damaging(0.777) tolerated(0.64) neutral(0.293) NULL HECW1 23072 genome.wustl.edu 37 7 43484056 43484056 + Missense_Mutation SNP G G C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015052.3 +1 validated p.G429R 0.003 45 0% 67 44.8% 0 - benign(0.017) tolerated(0.5) neutral(0.011) NULL HECW1 23072 genome.wustl.edu 37 7 43495971 43495971 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015052.3 +1 validated p.R859H 1.000 115 0% 124 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP AEBP1 165 genome.wustl.edu 37 7 44152343 44152343 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001129.3 +1 reviewed p.E802K 0.975 52 0% 30 20% 15 0% possibly_damaging(0.895) deleterious(0.04) deleterious(0.702) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases OGDH 4967 genome.wustl.edu 37 7 44736044 44736044 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002541.3 +1 reviewed p.D596 0.366 167 0% 238 30.7% 51 45% - - - superfamily_SSF52518 PKD1L1 168507 genome.wustl.edu 37 7 47886637 47886637 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138295.2 -1 reviewed p.A1665T 1.000 383 0% 330 25.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PKD1L1 168507 genome.wustl.edu 37 7 47894791 47894791 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138295.2 -1 reviewed p.K1555E 0.001 405 0% 402 29.6% 0 - benign(0) tolerated(0.87) neutral(0.001) NULL ABCA13 154664 genome.wustl.edu 37 7 48416037 48416037 + Splice_Site SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152701.3 +1 reviewed e35-1 1.000 412 0% 407 32.2% 0 - - - - - ABCA13 154664 genome.wustl.edu 37 7 48619896 48619896 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152701.3 +1 reviewed p.E4811K 0.962 135 0% 157 29.9% 3 100% probably_damaging(0.979) - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases IKZF1 10320 genome.wustl.edu 37 7 50367253 50367253 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000331340 +1 known p.V20 0.008 99 0% 111 25.2% 2 0% - - - NULL ZNF138 7697 genome.wustl.edu 37 7 64291977 64291977 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006524.2 +1 validated p.G62 0.075 361 0% 381 31% 2 100% - - - NULL AUTS2 26053 genome.wustl.edu 37 7 70255979 70255979 + Silent SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015570.2 +1 validated p.R1259 0.957 56 0% 41 31.7% 12 58.3% - - - NULL WBSCR22 114049 genome.wustl.edu 37 7 73111951 73111951 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017528.2 +1 reviewed p.S240P 0.000 115 0% 122 32.8% 201 42.7% benign(0.067) tolerated(0.27) neutral(0.038) superfamily_S-adenosyl-L-methionine-dependent methyltransferases LIMK1 3984 genome.wustl.edu 37 7 73511478 73511478 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002314.2 +1 reviewed p.D120 0.982 94 0% 121 39.7% 53 33.9% - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) GTF2IRD2 84163 genome.wustl.edu 37 7 74234554 74234554 + Splice_Site SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173537.2 -1 validated e6-1 0.843 1221 0% 1719 15.9% 2 0% - - - - RHBDD2 57414 genome.wustl.edu 37 7 75511186 75511186 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001040456.1 +1 validated p.P73L 0.768 100 0% 109 31.2% 86 45.3% possibly_damaging(0.931) tolerated(1) neutral(0.378) HMMPfam_Rhomboid DTX2 113878 genome.wustl.edu 37 7 76112075 76112075 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001102594.1 +1 validated p.R173 1.000 66 0% 72 12.5% 47 10.6% - - - HMMPfam_WWE,HMMSmart_SM00678 RSBN1L 222194 genome.wustl.edu 37 7 77325866 77325866 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198467.2 +1 validated p.G27D 0.115 38 0% 43 30.2% 8 25% unknown(0) deleterious(0) - NULL CACNA2D1 781 genome.wustl.edu 37 7 81662206 81662206 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000722.2 -1 reviewed p.S350 0.975 398 0% 292 28.1% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 PCLO 27445 genome.wustl.edu 37 7 82457211 82457211 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033026.5 -1 validated p.Y4774C 1.000 423 0% 338 30.8% 0 - unknown(0) - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PCLO 27445 genome.wustl.edu 37 7 82531978 82531978 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033026.5 -1 validated p.H4506R 1.000 773 0% 543 30.6% 0 - unknown(0) - - HMMPfam_PDZ,superfamily_PDZ domain-like PCLO 27445 genome.wustl.edu 37 7 82578881 82578881 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033026.5 -1 validated p.M3675V 1.000 222 0% 192 21.9% 0 - possibly_damaging(0.612) - - NULL PCLO 27445 genome.wustl.edu 37 7 82763857 82763857 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033026.5 -1 validated p.P1003 0.000 371 0% 306 22.5% 0 - - - - NULL SEMA3E 9723 genome.wustl.edu 37 7 83095841 83095841 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012431.2 -1 reviewed p.F138S 1.000 288 0% 330 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema KIAA1324L 222223 genome.wustl.edu 37 7 86577110 86577110 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142749.2 -1 validated p.S147P 1.000 224 0% 216 32.9% 0 - probably_damaging(0.956) tolerated(0.07) deleterious(0.719) superfamily_Growth factor receptor domain ABCB4 5244 genome.wustl.edu 37 7 87056221 87056221 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018849.2 -1 reviewed p.I637L 0.011 243 0% 185 28.6% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL AKAP9 10142 genome.wustl.edu 37 7 91660827 91660827 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005751.4 +1 reviewed p.F1416S 0.996 288 0% 341 29.3% 4 50% benign(0.299) deleterious(0) deleterious(0.537) NULL KRIT1 889 genome.wustl.edu 37 7 91864911 91864911 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004912.3 -1 reviewed p.R179* 1.000 350 0% 290 31.4% 8 25% - - - NULL ANKIB1 54467 genome.wustl.edu 37 7 91924317 91924317 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019004.1 +1 validated p.R9C 1.000 215 0.9% 204 30.4% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ANK ANKIB1 54467 genome.wustl.edu 37 7 91980369 91980369 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019004.1 +1 validated p.S397 1.000 373 0% 294 29.3% 13 30.7% - - - superfamily_SSF57850 ANKIB1 54467 genome.wustl.edu 37 7 92015915 92015915 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019004.1 +1 validated p.V570 1.000 336 0% 330 30% 13 38.4% unknown(0) - - HMMSmart_RING TECPR1 25851 genome.wustl.edu 37 7 97873997 97873997 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015395.1 -1 provisional p.T139 0.006 96 0% 133 36.1% 3 33.3% - - - HMMSmart_SM00694 TRRAP 8295 genome.wustl.edu 37 7 98580927 98580927 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003496.2 +1 validated p.I2931N 0.998 171 0% 211 31.3% 17 29.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_FAT,superfamily_ARM repeat,superfamily_Protein prenylyltransferase CPSF4 10898 genome.wustl.edu 37 7 99048378 99048378 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006693.2 +1 validated p.V153M 1.000 112 0% 123 36.6% 18 22.2% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger ZKSCAN1 7586 genome.wustl.edu 37 7 99631749 99631750 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003439.1 +1 validated p.R543fs 0.322:0.996 - - - - - - - - - superfamily_C2H2 and C2HC zinc fingers PVRIG 79037 genome.wustl.edu 37 7 99818808 99818808 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024070.3 +1 validated p.P305 0.001 85 0% 80 23.7% 9 0% - - - NULL ZCWPW1 55063 genome.wustl.edu 37 7 100014767 100014767 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017984.3 -1 validated p.A134V 0.193 279 0% 332 34% 2 0% benign(0.002) tolerated(0.59) neutral(0.004) NULL MEPCE 56257 genome.wustl.edu 37 7 100029091 100029091 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019606.4 +1 provisional p.R484C 1.000 65 0% 78 35.9% 41 43.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53335 TFR2 7036 genome.wustl.edu 37 7 100225018 100225018 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003227.3 -1 reviewed p.V622M 0.984 53 0% 61 31.1% 1 0% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) superfamily_Zn-dependent exopeptidases MUC17 140453 genome.wustl.edu 37 7 100695178 100695178 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001040105.1 +1 provisional p.G4346 0.177 182 0% 205 14.1% 0 - - - - NULL CUX1 1523 genome.wustl.edu 37 7 101921326 101921326 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001913.2 +1 reviewed p.Y557C 1.000 43 0% 41 26.8% 57 31.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CASP_C DNAJC2 27000 genome.wustl.edu 37 7 102968185 102968185 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014377.1 -1 reviewed p.L116 1.000 494 0% 505 33.5% 21 61.9% - - - HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain PSMC2 5701 genome.wustl.edu 37 7 103008400 103008400 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002803.2 +1 reviewed p.R401* 1.000 262 0% 311 21.5% 190 22.1% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases RELN 5649 genome.wustl.edu 37 7 103629691 103629691 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005045.3 -1 reviewed p.F38S 1.000 38 0% 49 30.6% 0 - benign(0.099) deleterious(0) neutral(0.452) NULL PIK3CG 5294 genome.wustl.edu 37 7 106508837 106508837 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002649.2 +1 reviewed p.R277 0.205 104 0% 91 27.5% 1 0% - - - HMMPfam_PI3K_rbd,HMMSmart_SM00144,superfamily_Ubiquitin-like TMEM168 64418 genome.wustl.edu 37 7 112407787 112407787 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022484.4 -1 validated p.L520P 1.000 31 0% 28 39.3% 7 42.8% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL C7orf60 154743 genome.wustl.edu 37 7 112555363 112555363 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152556.2 -1 validated p.C100 1.000 367 0% 423 32.2% 1 0% - - - NULL PPP1R3A 5506 genome.wustl.edu 37 7 113519747 113519747 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002711.3 -1 reviewed p.N467I 0.001 107 0% 62 32.3% 0 - probably_damaging(0.977) deleterious(0.03) deleterious(0.783) NULL CTTNBP2 83992 genome.wustl.edu 37 7 117431370 117431370 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033427.2 -1 reviewed p.A627V 1.000 141 0% 160 32.5% 0 - possibly_damaging(0.496) deleterious(0) deleterious(0.610) NULL ANKRD7 56311 genome.wustl.edu 37 7 117876203 117876203 + Splice_Site SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019644.3 +1 validated e4+2 1.000 127 0% 173 37.6% 0 - - - - - PTPRZ1 5803 genome.wustl.edu 37 7 121638047 121638047 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002851.2 +1 reviewed p.P409 0.133 208 0.5% 236 37.7% 1 0% - - - superfamily_Fibronectin type III SMO 6608 genome.wustl.edu 37 7 128851979 128851979 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005631.3 +1 provisional p.P684L 0.994 28 0% 42 23.8% 16 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM40B 57464 genome.wustl.edu 37 7 129125553 129125553 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020704.2 +1 validated p.S796 0.995 135 0% 141 28.4% 4 25% - - - NULL PLXNA4 91584 genome.wustl.edu 37 7 131866361 131866361 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020911.1 -1 validated p.A1091T 0.055 62 0% 77 31.2% 0 - benign(0) tolerated(0.63) neutral(0.004) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PLXNA4 91584 genome.wustl.edu 37 7 131883388 131883388 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020911.1 -1 validated p.P865L 1.000 121 0% 114 29.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains WEE2 494551 genome.wustl.edu 37 7 141430104 141430104 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001105558.1 +1 validated p.R563H 0.122 391 0% 399 36.3% 0 - benign(0.006) tolerated(0.13) neutral(0.253) NULL TRBV5-1 28614 genome.wustl.edu 37 7 142021320 142021320 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000390381 +1 known p.L100F 0.046 179 0% 170 29.4% 1 0% possibly_damaging(0.903) tolerated(0.05) deleterious(0.704) HMMPfam_V-set,superfamily_SSF48726 TRBV10-2 28584 genome.wustl.edu 37 7 142206708 142206708 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000426318 -1 known p.S49 0.000 127 0% 179 38.5% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 PRSS1 5644 genome.wustl.edu 37 7 142482212 142482212 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000311757 +1 known p.G212S 1.000 60 0% 52 50% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_SER CASP2 835 genome.wustl.edu 37 7 142997045 142997045 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032982.2 +1 reviewed p.A259 0.901 90 0% 107 30.8% 13 30.7% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like ZNF398 57541 genome.wustl.edu 37 7 148876640 148876640 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_170686.2 +1 reviewed p.R559H 1.000 78 0% 112 32.1% 8 25% benign(0.392) deleterious(0) deleterious(0.570) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF777 27153 genome.wustl.edu 37 7 149129126 149129126 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015694.2 -1 validated p.R746H 1.000 27 0% 50 28% 50 46% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_SSF57667 SSPO 23145 genome.wustl.edu 37 7 149490533 149490533 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000378016 +1 known p.P2003 0.001 110 0% 187 27.3% 0 - - - - HMMPfam_VWC,HMMSmart_SM00214 ZNF775 285971 genome.wustl.edu 37 7 150095000 150095000 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173680.3 +1 validated p.P477 0.000 13 0% 24 33.3% 4 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GIMAP8 155038 genome.wustl.edu 37 7 150171183 150171183 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_175571.2 +1 reviewed p.R256C 0.134 95 0% 101 29.7% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_AIG1,superfamily_SSF52540 KCNH2 3757 genome.wustl.edu 37 7 150648559 150648559 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000238.2 -1 reviewed p.S641F 1.000 60 0% 94 26.6% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels FASTK 10922 genome.wustl.edu 37 7 150774819 150774819 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006712.3 -1 reviewed p.T363M 0.970 77 0% 126 23.8% 101 56.4% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_FAST_2 AGAP3 116988 genome.wustl.edu 37 7 150815392 150815392 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031946.4 +1 validated p.A268T 0.989 46 0% 69 24.6% 71 32.3% possibly_damaging(0.53) deleterious(0) deleterious(0.623) HMMSmart_SM00173,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases MLL3 58508 genome.wustl.edu 37 7 151848561 151848561 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_170606.2 -1 reviewed p.R4211Q 1.000 245 0% 279 30.5% 11 27.2% unknown(0) - - NULL RBM33 155435 genome.wustl.edu 37 7 155567329 155567329 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_053043.2 +1 validated p.Q1151R 1.000 255 0% 280 32.5% 4 0% probably_damaging(0.99) tolerated(0.29) deleterious(0.471) HMMSmart_SM00360,superfamily_RNA-binding domain RBD PTPRN2 5799 genome.wustl.edu 37 7 157341655 157341655 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002847.3 -1 reviewed p.G987 1.000 196 0% 250 34.4% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II ARHGEF10 9639 genome.wustl.edu 37 8 1876699 1876699 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014629.2 +1 reviewed p.M935T 1.000 181 0% 266 31.6% 6 50% possibly_damaging(0.808) tolerated(0.05) deleterious(0.649) superfamily_WD40_like ARHGEF10 9639 genome.wustl.edu 37 8 1900928 1900928 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014629.2 +1 reviewed p.G1152D 1.000 27 0% 30 40% 3 33.3% probably_damaging(0.987) deleterious(0) deleterious(0.881) PatternScan_THIOL_PROTEASE_HIS,superfamily_WD40_like DEFA5 1670 genome.wustl.edu 37 8 6914175 6914175 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021010.1 -1 reviewed p.L15 0.763 304 0% 313 27.2% 0 - - - - HMMPfam_Defensin_propep MTMR7 9108 genome.wustl.edu 37 8 17161981 17161981 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004686.4 -1 reviewed p.R467Q 0.999 432 0% 399 33.3% 0 - benign(0.054) tolerated(0.61) neutral(0.007) superfamily_(Phosphotyrosine protein) phosphatases II MTMR7 9108 genome.wustl.edu 37 8 17228550 17228550 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004686.4 -1 reviewed p.R102 0.918 216 0% 261 33% 0 - - - - superfamily_PH domain-like XPO7 23039 genome.wustl.edu 37 8 21856657 21856657 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001100161.1 +1 validated p.K837 1.000 301 0% 409 28.4% 36 58.3% - - - superfamily_ARM repeat HR 55806 genome.wustl.edu 37 8 21981247 21981247 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005144.4 -1 reviewed p.T610 1.000 24 0% 47 40.4% 0 - - - - NULL PIWIL2 55124 genome.wustl.edu 37 8 22147807 22147807 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001135721.1 +1 validated p.L377 0.941 254 0% 354 34.7% 0 - - - - superfamily_PAZ domain SLC39A14 23516 genome.wustl.edu 37 8 22269695 22269695 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001128431.2 +1 validated p.N201 1.000 135 0% 169 33.7% 4 50% - - - HMMPfam_Zip KIAA1967 57805 genome.wustl.edu 37 8 22472984 22472984 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021174.4 +1 validated p.R418W 1.000 89 0% 103 36.9% 38 34.2% possibly_damaging(0.824) deleterious(0) deleterious(0.756) NULL TNFRSF10D 8793 genome.wustl.edu 37 8 23002033 23002033 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003840.3 -1 reviewed p.I295T 0.000 97 0% 110 15.5% 7 42.8% possibly_damaging(0.83) tolerated(0.1) deleterious(0.602) NULL R3HCC1 203069 genome.wustl.edu 37 8 23147951 23147951 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001136108.1 +1 validated p.S87L 0.004 215 0% 441 35.6% 17 35.2% benign(0) tolerated(0.21) neutral(0.044) NULL ADAM7 8756 genome.wustl.edu 37 8 24321436 24321436 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000380789 +1 known p.M92T 0.000 344 0% 356 30.1% 0 - benign(0) tolerated(0.1) neutral(0.286) HMMPfam_Pep_M12B_propep ADAM7 8756 genome.wustl.edu 37 8 24349612 24349612 + Splice_Site SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000380789 +1 known e14+1 0.998 104 0% 89 43.8% 0 - - - - - CDCA2 157313 genome.wustl.edu 37 8 25364731 25364731 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152562.2 +1 validated p.H850R 0.000 89 0% 97 35.1% 10 30% possibly_damaging(0.707) tolerated(0.49) neutral(0.266) NULL PTK2B 2185 genome.wustl.edu 37 8 27277442 27277442 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004103.3 +1 reviewed p.R79W 0.993 146 0% 162 40.7% 12 25% probably_damaging(0.997) tolerated(0.07) deleterious(0.785) HMMSmart_SM00295 FZD3 7976 genome.wustl.edu 37 8 28385040 28385040 + Nonsense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017412.2 +1 reviewed p.G255* 1.000 201 0.5% 148 38.5% 6 66.6% - - - HMMPfam_Frizzled KIF13B 23303 genome.wustl.edu 37 8 28971069 28971069 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015254.3 -1 validated p.F1281L 1.000 205 0% 216 29.6% 24 41.6% probably_damaging(0.998) tolerated(0.55) deleterious(0.481) NULL KIF13B 23303 genome.wustl.edu 37 8 28984759 28984759 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015254.3 -1 validated p.E1034D 1.000 171 0% 190 31.1% 18 66.6% benign(0.01) tolerated(0.47) neutral(0.011) NULL MAK16 84549 genome.wustl.edu 37 8 33346615 33346615 + Frame_Shift_Del DEL C C - novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032509.3 +1 validated p.Q118fs 1.000 - - - - - - - - - HMMPfam_Mak16 RAB11FIP1 80223 genome.wustl.edu 37 8 37756911 37756911 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001002814.2 -1 validated p.P17S 1.000 8 0.000 16 0.250 8 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ADAM32 203102 genome.wustl.edu 37 8 39089583 39089583 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_145004.5 +1 validated p.I521M 0.551 402 0% 295 33.2% 1 0% possibly_damaging(0.9) deleterious(0.01) deleterious(0.762) HMMPfam_ADAM_CR,HMMSmart_SM00608 ANK1 286 genome.wustl.edu 37 8 41553932 41553932 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142446.1 -1 reviewed p.G1011D 1.000 24 0% 31 38.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ZU5,HMMSmart_ZU5 VDAC3 7419 genome.wustl.edu 37 8 42259478 42259478 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001135694.1 +1 validated p.Q167* 1.000 249 0.4% 327 32.1% 101 2.9% - - - HMMPfam_Porin_3 RP1 6101 genome.wustl.edu 37 8 55542703 55542703 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006269.1 +1 reviewed p.V2087 0.888 90 0% 63 27% 0 - - - - NULL TMEM68 137695 genome.wustl.edu 37 8 56675270 56675270 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152417.1 -1 provisional p.A83 0.193 215 0% 192 15.1% 10 10% - - - NULL LYN 4067 genome.wustl.edu 37 8 56859042 56859042 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002350.2 +1 validated p.F56L 0.988 172 0% 149 31.5% 56 35.7% benign(0.008) tolerated(0.65) neutral(0.003) superfamily_SH3-domain SDR16C6P 442388 genome.wustl.edu 37 8 57295157 57295157 + Missense_Mutation SNP C C T rs138667651 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000444271 -1 known p.V160M 1.000 180 0% 199 30.7% 0 - - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains CHD7 55636 genome.wustl.edu 37 8 61743067 61743067 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017780.2 +1 reviewed p.N1237D 1.000 162 0% 216 25.5% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_SNF2_N PREX2 80243 genome.wustl.edu 37 8 68939479 68939479 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024870.2 +1 validated p.R155Q 1.000 321 0% 239 28% 9 55.5% probably_damaging(0.996) tolerated(0.19) deleterious(0.511) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) SULF1 23213 genome.wustl.edu 37 8 70488245 70488245 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001128204.1 +1 validated p.E71D 0.635 179 0% 207 27.1% 7 0% probably_damaging(0.966) deleterious(0.02) deleterious(0.791) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core SLCO5A1 81796 genome.wustl.edu 37 8 70588858 70588858 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030958.2 -1 reviewed p.L692S 0.973 187 0% 220 30.5% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter EYA1 2138 genome.wustl.edu 37 8 72182031 72182031 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000503.4 -1 reviewed p.T332A 1.000 374 0% 380 32.9% 0 - possibly_damaging(0.839) deleterious(0) deleterious(0.765) HMMPfam_Hydrolase WWP1 11059 genome.wustl.edu 37 8 87423902 87423902 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007013.3 +1 validated p.L287P 0.000 340 0% 325 31.7% 3 0% benign(0) tolerated(0.28) neutral(0.032) NULL WWP1 11059 genome.wustl.edu 37 8 87439886 87439886 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007013.3 +1 validated p.V391A 1.000 307 0% 392 26.8% 12 25% possibly_damaging(0.847) tolerated(0.61) neutral(0.329) HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain VPS13B 157680 genome.wustl.edu 37 8 100133611 100133611 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017890.3 +1 reviewed p.T382A 0.086 361 0% 331 28.4% 0 - benign(0.001) deleterious(0.02) neutral(0.383) NULL VPS13B 157680 genome.wustl.edu 37 8 100791128 100791128 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017890.3 +1 reviewed p.G2575R 0.992 144 0% 101 27.7% 0 - possibly_damaging(0.933) tolerated(0.07) deleterious(0.698) NULL VPS13B 157680 genome.wustl.edu 37 8 100829904 100829904 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017890.3 +1 reviewed p.K2770R 0.999 251 0% 292 23.6% 1 0% probably_damaging(0.996) tolerated(0.71) neutral(0.463) NULL VPS13B 157680 genome.wustl.edu 37 8 100866100 100866100 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017890.3 +1 reviewed p.N3520D 0.000 159 0% 245 31% 6 66.6% benign(0.044) tolerated(0.27) neutral(0.036) NULL DCAF13 25879 genome.wustl.edu 37 8 104455034 104455034 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015420.6 +1 validated p.R573H 0.994 185 0% 196 27% 70 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sof1 RAD21 5885 genome.wustl.edu 37 8 117875399 117875399 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006265.2 -1 reviewed p.F82I 0.999 427 0% 289 36.3% 43 53.4% benign(0.006) deleterious(0.01) neutral(0.406) HMMPfam_Rad21_Rec8_N TNFRSF11B 4982 genome.wustl.edu 37 8 119945384 119945384 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002546.3 -1 reviewed p.C62 0.001 401 0% 452 31% 61 52.4% - - - HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like NOV 4856 genome.wustl.edu 37 8 120430340 120430340 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002514.3 +1 reviewed p.R118H 0.963 245 0% 369 32.8% 36 33.3% probably_damaging(0.967) tolerated(0.09) deleterious(0.706) HMMPfam_VWC,HMMSmart_VWC ENPP2 5168 genome.wustl.edu 37 8 120575164 120575164 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006209.3 -1 reviewed p.C837Y 1.000 167 0% 227 30% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Endonuclease_NS,HMMSmart_SM00477,superfamily_His-Me finger endonucleases COL14A1 7373 genome.wustl.edu 37 8 121295904 121295904 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021110.1 +1 validated p.D1285V 1.000 354 0% 279 29% 0 - probably_damaging(1) - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases ZHX2 22882 genome.wustl.edu 37 8 123966079 123966079 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014943.3 +1 reviewed p.R777W 0.995 168 0% 316 30.1% 23 69.5% possibly_damaging(0.824) deleterious(0.01) deleterious(0.718) NULL ASAP1 50807 genome.wustl.edu 37 8 131193047 131193047 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018482.2 -1 validated p.A204T 1.000 698 0% 741 31.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TG 7038 genome.wustl.edu 37 8 134147000 134147000 + Missense_Mutation SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003235.4 +1 reviewed p.S2757R 0.000 194 0% 227 30.8% 1 100% possibly_damaging(0.462) deleterious(0) deleterious(0.596) NULL FAM135B 51059 genome.wustl.edu 37 8 139209843 139209843 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015912.3 -1 validated p.L247 0.992 150 0.7% 112 22.3% 0 - - - - NULL COL22A1 169044 genome.wustl.edu 37 8 139890130 139890130 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152888.1 -1 validated p.A174V 0.999 17 0% 23 39.1% 1 100% unknown(0) deleterious(0) - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like DENND3 22898 genome.wustl.edu 37 8 142161872 142161872 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014957.2 +1 validated p.F257S 0.998 121 0% 112 33% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DENN,HMMSmart_SM00799 FLJ43860 389690 genome.wustl.edu 37 8 142481189 142481189 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_207414.2 -1 validated p.S658G 0.000 174 0% 228 30.7% 0 - benign(0) tolerated(0.35) neutral(0.021) superfamily_ARM repeat FLJ43860 389690 genome.wustl.edu 37 8 142490476 142490476 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_207414.2 -1 validated p.P275S 0.001 62 0% 78 33.3% 0 - benign(0.073) tolerated(1) neutral(0.005) NULL ENSG00000247396 0 genome.wustl.edu 37 8 143740224 143740224 + RNA SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000501891 +1 known NULL 0.009 99 0% 91 20.9% 3 0% - - - - CYP11B2 1585 genome.wustl.edu 37 8 143999189 143999189 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000498.3 -1 reviewed p.A23V 0.022 62 0% 72 34.7% 0 - benign(0.313) tolerated(0.19) neutral(0.147) NULL ZC3H3 23144 genome.wustl.edu 37 8 144523241 144523241 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015117.2 -1 validated p.A786V 0.000 12 0% 20 25% 19 15.7% benign(0) tolerated(1) - HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger ZC3H3 23144 genome.wustl.edu 37 8 144621248 144621248 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015117.2 -1 validated p.G97R 0.000 27 0% 22 31.8% 10 70% benign(0.004) tolerated(0.18) neutral(0.056) NULL NRBP2 340371 genome.wustl.edu 37 8 144921104 144921104 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000442628 -1 known p.A232V 0.629 74 0% 148 27% 11 45.4% benign(0.004) tolerated(0.28) neutral(0.032) superfamily_Kinase_like EPPK1 83481 genome.wustl.edu 37 8 144942355 144942355 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031308.1 -1 validated p.G1689 1.000 123 0% 108 30.6% 3 33.3% - - - HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat EPPK1 83481 genome.wustl.edu 37 8 144944795 144944795 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031308.1 -1 validated p.A876V 0.002 12 0% 15 33.3% 1 100% benign(0) tolerated(0.26) neutral(0.034) HMMSmart_SM00250 PLEC 5339 genome.wustl.edu 37 8 144990903 144990903 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_201380.2 -1 reviewed p.P4499 0.163 29 0% 31 19.4% 228 53% - - - HMMSmart_SM00250,superfamily_Plakin repeat PLEC 5339 genome.wustl.edu 37 8 144996867 144996867 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_201380.2 -1 reviewed p.A2547 0.000 48 0% 50 46% 56 46.4% - - - NULL SLC52A2 79581 genome.wustl.edu 37 8 145584581 145584581 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024531.3 +1 validated p.G415D 1.000 83 0% 108 33.3% 320 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CPSF1 29894 genome.wustl.edu 37 8 145621625 145621625 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013291.2 -1 validated p.D973N 1.000 25 0% 55 34.5% 53 52.8% benign(0.003) tolerated(0.42) neutral(0.014) NULL RECQL4 9401 genome.wustl.edu 37 8 145738264 145738264 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000428558 -1 known p.Q907 0.995 69 0% 81 33.3% 38 34.2% - - - NULL KANK1 23189 genome.wustl.edu 37 9 713368 713368 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015158.2 +1 reviewed p.S868G 1.000 93 0% 122 33.6% 7 57.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_ANK SMARCA2 6595 genome.wustl.edu 37 9 2123927 2123927 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003070.3 +1 reviewed p.Q1324R 1.000 104 0% 90 24.4% 22 22.7% benign(0.023) deleterious(0.03) neutral(0.365) NULL SMARCA2 6595 genome.wustl.edu 37 9 2182212 2182212 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003070.3 +1 reviewed p.N1477 0.819 151 0% 140 35.7% 44 47.7% - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 RFX3 5991 genome.wustl.edu 37 9 3225083 3225083 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_134428.1 -1 reviewed p.R737G 1.000 311 0.3% 293 27.3% 3 33.3% benign(0.322) deleterious(0) deleterious(0.545) NULL ERMP1 79956 genome.wustl.edu 37 9 5811114 5811114 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024896.2 -1 validated p.K442E 0.882 268 0% 273 36.6% 19 52.6% benign(0) tolerated(0.63) neutral(0.004) NULL PTPRD 5789 genome.wustl.edu 37 9 8504274 8504274 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002839.3 -1 reviewed p.R603 1.000 304 0.3% 400 32.8% 0 - - - - HMMSmart_SM00409,superfamily_Fibronectin type III SNAPC3 6619 genome.wustl.edu 37 9 15457986 15457986 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001039697.1 +1 validated p.R337G 1.000 498 0% 483 29% 16 43.7% possibly_damaging(0.553) tolerated(0.2) neutral(0.237) NULL C9orf93 203238 genome.wustl.edu 37 9 15874627 15874627 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173550.2 +1 predicted p.G1189V 1.000 275 0% 202 29.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC24A2 25769 genome.wustl.edu 37 9 19520959 19520959 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020344.1 -1 provisional p.R557W 1.000 247 0% 231 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_Ca_ex NFX1 4799 genome.wustl.edu 37 9 33344158 33344158 + Silent SNP C C T rs144519029 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002504.3 +1 reviewed p.C772 0.966 244 0% 340 28.2% 19 31.5% - - - NULL RPP25L 138716 genome.wustl.edu 37 9 34611147 34611147 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_148178.1 -1 validated p.G49 0.000 121 0% 122 27% 33 42.4% - - - HMMPfam_Alba,superfamily_SSF82704 SIGMAR1 10280 genome.wustl.edu 37 9 34635772 34635772 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005866.2 -1 reviewed p.V177I 1.000 127 0% 147 36.1% 170 50% benign(0.228) tolerated(0.48) neutral(0.033) HMMPfam_ERG2_Sigma1R RUSC2 9853 genome.wustl.edu 37 9 35555067 35555067 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001135999.1 +1 validated p.T675 0.885 65 0% 87 14.9% 1 100% - - - NULL TPM2 7169 genome.wustl.edu 37 9 35685649 35685649 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003289.3 -1 reviewed p.S123 0.999 81 0% 105 32.4% 333 28.5% - - - HMMPfam_Tropomyosin NPR2 4882 genome.wustl.edu 37 9 35800723 35800723 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003995.3 +1 reviewed p.S412 0.921 161 0% 220 30% 0 - - - - superfamily_Periplasmic binding protein-like I RECK 8434 genome.wustl.edu 37 9 36083483 36083483 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021111.2 +1 reviewed p.C187 0.996 262 0% 205 29.8% 0 - - - - NULL MELK 9833 genome.wustl.edu 37 9 36633103 36633103 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014791.2 +1 provisional p.D247G 1.000 142 0% 154 28.6% 19 47.3% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FAM189A2 9413 genome.wustl.edu 37 9 72003049 72003049 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000377216 +1 known p.T65A 0.000 73 0% 75 22.7% 0 - possibly_damaging(0.741) - - NULL APBA1 320 genome.wustl.edu 37 9 72047501 72047501 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001163.3 -1 reviewed p.A798V 1.000 108 0% 156 32.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ TMEM2 23670 genome.wustl.edu 37 9 74345637 74345637 + Missense_Mutation SNP C C G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013390.2 -1 validated p.G586A 0.997 175 0% 198 25.8% 15 40% benign(0.084) tolerated(0.24) neutral(0.043) superfamily_Pectin lyase-like ANXA1 301 genome.wustl.edu 37 9 75780119 75780119 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000700.1 +1 reviewed p.R234C 1.000 459 0% 376 28.2% 693 38.2% benign(0.069) deleterious(0.04) neutral(0.353) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 PRUNE2 158471 genome.wustl.edu 37 9 79318451 79318451 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000426088 -1 known p.W2014* 0.000 202 0% 176 30.1% 2 0% benign(0.323) deleterious(0) deleterious(0.545) NULL DAPK1 1612 genome.wustl.edu 37 9 90252978 90252978 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004938.2 +1 reviewed p.I135 0.893 293 0% 337 28.5% 24 37.5% - - - HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase NXNL2 158046 genome.wustl.edu 37 9 91159310 91159310 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000375854 +1 known p.Y107N 1.000 84 0% 136 25% 6 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Thioredoxin-like C9orf47 286223 genome.wustl.edu 37 9 91606045 91606045 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001001938.3 +1 validated p.P45 0.192 34 0% 55 32.7% 0 - - - - NULL IARS 3376 genome.wustl.edu 37 9 95022465 95022465 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002161.4 -1 reviewed p.S613 0.000 434 0% 384 32% 25 52% - - - HMMPfam_tRNA-synt_1,superfamily_SSF52374 NOL8 55035 genome.wustl.edu 37 9 95077414 95077414 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017948.5 -1 validated p.D498G 0.004 300 0% 301 27.9% 5 40% benign(0.316) tolerated(0.29) neutral(0.128) NULL PTPDC1 138639 genome.wustl.edu 37 9 96857602 96857602 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152422.3 +1 reviewed p.Y205C 1.000 273 0% 445 32.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_SSF52799 PTPDC1 138639 genome.wustl.edu 37 9 96860863 96860863 + Splice_Site SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152422.3 +1 reviewed e6+2 1.000 74 0% 73 31.5% 0 - - - - - FBP2 8789 genome.wustl.edu 37 9 97321409 97321409 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003837.2 -1 reviewed p.R277 1.000 82 0% 65 23.1% 0 - - - - HMMPfam_FBPase,PatternScan_FBPASE,superfamily_SSF56655 FANCC 2176 genome.wustl.edu 37 9 97873833 97873833 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000136.2 -1 reviewed p.S414L 0.000 163 0% 192 33.3% 7 42.8% benign(0.119) tolerated(0.09) neutral(0.306) HMMPfam_Fanconi_C PTCH1 5727 genome.wustl.edu 37 9 98231279 98231279 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000264.3 -1 reviewed p.Y668 0.997 305 0% 426 34.7% 2 50% - - - HMMPfam_Patched C9orf174 100499483 genome.wustl.edu 37 9 100071855 100071855 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020893.1 +1 predicted p.D260N 0.027 48 0% 69 33.3% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL TSTD2 158427 genome.wustl.edu 37 9 100367820 100367820 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139246.4 -1 validated p.M353T 1.000 129 0% 137 29.9% 9 44.4% possibly_damaging(0.476) deleterious(0) deleterious(0.602) HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase XPA 7507 genome.wustl.edu 37 9 100437827 100437827 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000380.3 -1 reviewed p.T239M 0.209 337 0% 344 34.9% 13 69.2% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL COL15A1 1306 genome.wustl.edu 37 9 101747932 101747932 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001855.3 +1 reviewed p.G62 1.000 99 0% 112 29.5% 11 9% - - - HMMSmart_TSPN,superfamily_ConA_like_lec_gl NIPSNAP3A 25934 genome.wustl.edu 37 9 107515279 107515279 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015469.1 +1 provisional p.D122N 0.238 247 0% 291 34.7% 25 44% benign(0.11) tolerated(0.45) neutral(0.021) HMMPfam_NIPSNAP ACTL7A 10881 genome.wustl.edu 37 9 111625022 111625022 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006687.2 +1 reviewed p.I140 0.210 193 0% 308 32.5% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain TXNDC8 255220 genome.wustl.edu 37 9 113065829 113065829 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000374511 -1 known p.L119S 0.930 128 0% 92 29.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC31A2 1318 genome.wustl.edu 37 9 115923930 115923930 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001860.2 +1 validated p.G72V 0.012 94 0% 142 25.4% 8 37.5% benign(0.055) tolerated(0.39) neutral(0.019) HMMPfam_Ctr COL27A1 85301 genome.wustl.edu 37 9 117063395 117063395 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032888.2 +1 validated p.S1582L 0.512 120 0.8% 121 31.4% 13 61.5% possibly_damaging(0.563) tolerated(0.24) neutral(0.230) HMMPfam_Collagen TRIM32 22954 genome.wustl.edu 37 9 119460232 119460232 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001099679.1 +1 reviewed p.T71A 1.000 125 0% 196 31.1% 6 33.3% benign(0.026) tolerated(0.61) neutral(0.005) superfamily_SSF57850 DBC1 1620 genome.wustl.edu 37 9 122004459 122004459 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014618.2 -1 validated p.R149C 1.000 228 0.4% 212 31.1% 0 - possibly_damaging(0.938) deleterious(0) deleterious(0.828) HMMSmart_SM00457 OR1J4 26219 genome.wustl.edu 37 9 125282194 125282194 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001004452.1 +1 provisional p.Y259H 0.437 438 0% 521 31.1% 0 - possibly_damaging(0.943) deleterious(0.02) deleterious(0.770) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5C1 392391 genome.wustl.edu 37 9 125551241 125551241 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001001923.1 +1 provisional p.A10 0.002 138 0% 165 35.2% 0 - - - - superfamily_Family A G protein-coupled receptor-like OLFML2A 169611 genome.wustl.edu 37 9 127572088 127572088 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182487.2 +1 validated p.G452 1.000 71 0% 128 30.5% 1 0% - - - HMMPfam_OLF,HMMSmart_SM00284 PBX3 5090 genome.wustl.edu 37 9 128723071 128723071 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006195.5 +1 validated p.A318T 1.000 61 0% 118 29.7% 7 57.1% benign(0.001) tolerated(0.23) neutral(0.042) NULL ZNF79 7633 genome.wustl.edu 37 9 130191185 130191185 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007135.2 +1 validated p.T31A 0.014 146 0% 154 35.1% 2 0% benign(0.388) tolerated(0.25) neutral(0.161) superfamily_Krueppel-associated_box STXBP1 6812 genome.wustl.edu 37 9 130427551 130427551 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003165.3 +1 reviewed p.A202T 1.000 155 0% 208 17.3% 1 0% benign(0.036) deleterious(0.04) neutral(0.351) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins TTC16 158248 genome.wustl.edu 37 9 130493403 130493403 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144965.1 +1 provisional p.R781W 0.002 37 0% 30 33.3% 0 - benign(0.021) deleterious(0) neutral(0.446) NULL ST6GALNAC4 27090 genome.wustl.edu 37 9 130676980 130676980 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_175039.3 -1 reviewed p.P51 0.013 65 1.5% 69 29% 21 38% - - - HMMPfam_Glyco_transf_29 TRUB2 26995 genome.wustl.edu 37 9 131076118 131076118 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015679.1 -1 provisional p.E143D 0.020 125 0% 216 13.4% 67 19.4% benign(0.005) tolerated(0.56) neutral(0.006) HMMPfam_TruB_N,superfamily_PsdUridine_synth_cat_dom SPTAN1 6709 genome.wustl.edu 37 9 131346789 131346789 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001130438.1 +1 validated p.A808T 0.994 117 0% 150 31.3% 16 12.5% benign(0) tolerated(0.36) neutral(0.020) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin LRRC8A 56262 genome.wustl.edu 37 9 131671439 131671439 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001127244.1 +1 reviewed p.R666C 1.000 166 0% 315 29.5% 54 48.1% benign(0.016) tolerated(0.07) neutral(0.320) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like SH3GLB2 56904 genome.wustl.edu 37 9 131784632 131784632 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020145.2 -1 provisional p.R45Q 1.000 187 0% 267 32.2% 85 51.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_BAR,HMMSmart_SM00721 TOR1B 27348 genome.wustl.edu 37 9 132569566 132569566 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014506.1 +1 provisional p.A189T 1.000 298 0% 449 34.5% 27 37% benign(0.047) tolerated(0.08) neutral(0.303) HMMSmart_AAA,HMMPfam_Torsin,superfamily_SSF52540 USP20 10868 genome.wustl.edu 37 9 132636941 132636941 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001008563.3 +1 validated p.G609 0.431 97 0% 138 35.5% 13 46.1% - - - HMMPfam_UCH,superfamily_SSF54001 PRRC2B 84726 genome.wustl.edu 37 9 134366901 134366901 + Silent SNP C C T rs183938437 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000320547 +1 known p.R112C 0.796 31 0% 32 28.1% 28 57.1% - - - NULL TTF1 7270 genome.wustl.edu 37 9 135277149 135277149 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007344.2 -1 validated p.E354K 0.000 264 0% 220 29.1% 7 57.1% benign(0.273) deleterious(0.03) neutral(0.394) NULL TSC1 7248 genome.wustl.edu 37 9 135779130 135779130 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000368.4 -1 reviewed p.R706C 1.000 137 0% 192 32.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hamartin TSC1 7248 genome.wustl.edu 37 9 135802658 135802658 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000368.4 -1 reviewed p.D47G 1.000 362 0% 417 30.2% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hamartin GFI1B 8328 genome.wustl.edu 37 9 135865264 135865264 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004188.4 +1 validated p.D262N 1.000 106 0% 156 34% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RALGDS 5900 genome.wustl.edu 37 9 135985812 135985812 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006266.2 -1 validated p.T120M 0.998 147 0% 148 12.8% 29 10.3% unknown(0) deleterious(0) - HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF ADAMTS13 11093 genome.wustl.edu 37 9 136320410 136320410 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139025.3 +1 reviewed p.S1085A 1.000 66 0% 58 31% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat MRPS2 51116 genome.wustl.edu 37 9 138395466 138395466 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016034.3 +1 reviewed p.Q126 1.000 92 0% 72 37.5% 122 53.2% - - - HMMPfam_Ribosomal_S2,superfamily_Ribosomal_S2 UBAC1 10422 genome.wustl.edu 37 9 138847229 138847229 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016172.2 -1 validated p.S57 0.690 218 0% 283 36.7% 29 58.6% - - - superfamily_SSF54236 PMPCA 23203 genome.wustl.edu 37 9 139310872 139310872 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000446975 +1 known p.R221H 0.000 58 0% 75 22.7% 5 60% - - - NULL FAM69B 138311 genome.wustl.edu 37 9 139617906 139617906 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152421.3 +1 validated p.R326C 1.000 14 0% 12 50% 3 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LCN10 414332 genome.wustl.edu 37 9 139635702 139635702 + Splice_Site SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001001712.2 -1 validated e3+2 0.000 74 0% 84 34.5% 0 - - - - - C9orf86 55684 genome.wustl.edu 37 9 139726267 139726267 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024718.4 +1 validated p.V185I 1.000 98 0% 114 38.6% 115 43.4% unknown(0) deleterious(0.03) - HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases RNF208 727800 genome.wustl.edu 37 9 140115175 140115175 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031297.3 -1 validated p.H164Y 1.000 60 0% 98 30.6% 76 44.7% possibly_damaging(0.891) deleterious(0) deleterious(0.795) HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_SSF57850 NOXA1 10811 genome.wustl.edu 37 9 140323441 140323441 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006647.1 +1 provisional p.G159 0.004 29 0% 31 32.3% 26 30.7% - - - superfamily_SSF48452 PNPLA7 375775 genome.wustl.edu 37 9 140392579 140392579 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001098537.1 -1 validated p.R626* 0.997 113 0% 146 33.6% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like CACNA1B 774 genome.wustl.edu 37 9 141012499 141012499 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000718.2 +1 validated p.S1960Y 0.989 46 0% 58 34.5% 0 - probably_damaging(0.991) tolerated(1) neutral(0.444) NULL AKR1CL1 340811 genome.wustl.edu 37 10 5202088 5202088 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000380510 -1 known p.C169 1.000 37 0% 32 28.1% 0 - - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase ASB13 79754 genome.wustl.edu 37 10 5683815 5683815 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024701.3 -1 reviewed p.Y209 0.197 148 0% 202 30.2% 5 40% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ITIH5 80760 genome.wustl.edu 37 10 7679251 7679251 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030569.5 -1 validated p.A198T 0.000 56 0% 38 23.7% 27 44.4% benign(0) tolerated(0.39) neutral(0.016) NULL SEC61A2 55176 genome.wustl.edu 37 10 12211296 12211296 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142627.1 +1 reviewed p.R428 0.000 310 0% 360 36.7% 2 50% - - - HMMPfam_SecY DCLRE1C 64421 genome.wustl.edu 37 10 14950425 14950425 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001033855.1 -1 reviewed p.C687 0.024 275 0% 180 12.2% 3 33.3% - - - NULL DNAJC1 64215 genome.wustl.edu 37 10 22048490 22048490 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022365.3 -1 provisional p.T402M 0.000 45 0% 58 24.1% 61 49.1% possibly_damaging(0.736) tolerated(0.12) deleterious(0.530) NULL THNSL1 79896 genome.wustl.edu 37 10 25312886 25312886 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024838.4 +1 validated p.K245M 0.439 459 0.2% 467 32.5% 3 100% possibly_damaging(0.46) deleterious(0) deleterious(0.596) NULL THNSL1 79896 genome.wustl.edu 37 10 25313607 25313607 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024838.4 +1 validated p.S485 0.948 168 0% 123 29.3% 7 28.5% - - - HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes GPR158 57512 genome.wustl.edu 37 10 25887865 25887865 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020752.2 +1 validated p.G1104R 0.000 109 0% 127 31.5% 0 - benign(0.086) deleterious(0.03) neutral(0.371) NULL MPP7 143098 genome.wustl.edu 37 10 28358713 28358713 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173496.3 -1 validated p.V398M 0.998 158 0% 164 38.4% 8 50% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_GuKc,superfamily_SSF52540 WAC 51322 genome.wustl.edu 37 10 28879710 28879710 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016628.3 +1 reviewed p.Y187N 1.000 186 0% 220 26.4% 39 53.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MAP3K8 1326 genome.wustl.edu 37 10 30748327 30748327 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005204.2 +1 reviewed p.P390 0.841 105 0% 155 32.9% 18 55.5% - - - superfamily_Protein kinase-like (PK-like) PARD3 56288 genome.wustl.edu 37 10 34400255 34400255 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019619.3 -1 validated p.E1305K 1.000 94 0% 58 25.9% 47 40.4% benign(0.2) tolerated(0.33) neutral(0.043) NULL CUL2 8453 genome.wustl.edu 37 10 35305275 35305275 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003591.2 -1 provisional p.T578A 1.000 397 0% 510 27.8% 38 39.4% benign(0.311) tolerated(0.34) neutral(0.120) HMMPfam_Cullin,superfamily_Cullin homology domain ANKRD30A 91074 genome.wustl.edu 37 10 37422958 37422958 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052997.2 +1 validated p.Y188 0.226 516 0% 652 30.1% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD30A 91074 genome.wustl.edu 37 10 37430708 37430708 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052997.2 +1 validated p.A239T 0.001 107 0% 103 31.1% 0 - possibly_damaging(0.936) tolerated(0.09) deleterious(0.678) NULL C10orf25 220979 genome.wustl.edu 37 10 45496288 45496288 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001039380.2 -1 validated p.E7G 0.005 63 0% 39 35.9% 0 - benign(0.35) - - NULL ZFAND4 93550 genome.wustl.edu 37 10 46121736 46121736 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001128324.1 -1 validated p.V512A 0.497 127 0% 101 38.6% 4 25% benign(0.035) deleterious(0) neutral(0.447) NULL ASAH2C 653365 genome.wustl.edu 37 10 48029279 48029279 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000426610 -1 known p.R203C 0.781 149 0% 142 31.7% 0 - benign(0.181) tolerated(0.18) neutral(0.073) HMMPfam_Ceramidase_alk FRMPD2 143162 genome.wustl.edu 37 10 49452828 49452828 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001018071.3 -1 reviewed p.Q125R 1.000 231 0% 222 30.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00750 ARHGAP22 58504 genome.wustl.edu 37 10 49654639 49654639 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021226.2 -1 validated p.L631P 0.694 533 0% 722 31% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL VSTM4 196740 genome.wustl.edu 37 10 50315797 50315797 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001031746.3 -1 validated p.R100H 0.671 61 0% 48 31.2% 0 - benign(0.001) tolerated(0.14) neutral(0.249) HMMSmart_SM00409,superfamily_Immunoglobulin OGDHL 55753 genome.wustl.edu 37 10 50953486 50953486 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018245.2 -1 validated p.P511 0.029 195 0% 240 26.7% 8 62.5% - - - HMMPfam_E1_dh,superfamily_SSF52518 OGDHL 55753 genome.wustl.edu 37 10 50964887 50964887 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018245.2 -1 validated p.R104W 0.594 122 0% 144 29.2% 2 0% possibly_damaging(0.893) tolerated(0.18) neutral(0.408) NULL PARG 8505 genome.wustl.edu 37 10 51362989 51362989 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003631.2 -1 reviewed p.G361 0.978 466 0.6% 550 28.4% 1 0% - - - NULL ASAH2 56624 genome.wustl.edu 37 10 51974562 51974562 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019893.2 -1 validated p.R361C 0.070 139 0% 143 25.9% 0 - possibly_damaging(0.509) tolerated(0.18) neutral(0.227) HMMPfam_Ceramidase_alk CSTF2T 23283 genome.wustl.edu 37 10 53457707 53457707 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015235.2 -1 validated p.G535R 0.790 406 0% 557 30.3% 11 54.5% unknown(0) tolerated(0.06) - NULL DKK1 22943 genome.wustl.edu 37 10 54074415 54074415 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012242.2 +1 reviewed p.Y74C 0.997 16 0% 22 27.3% 77 45.4% possibly_damaging(0.91) tolerated(0.14) deleterious(0.612) NULL BICC1 80114 genome.wustl.edu 37 10 60558828 60558828 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080512.1 +1 reviewed p.I514T 0.994 145 0% 133 31.6% 1 0% benign(0.005) deleterious(0.01) neutral(0.406) NULL BICC1 80114 genome.wustl.edu 37 10 60566788 60566788 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080512.1 +1 reviewed p.T749M 1.000 126 0.8% 135 31.1% 5 60% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ARID5B 84159 genome.wustl.edu 37 10 63759857 63759857 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032199.2 +1 validated p.D170 0.982 78 0% 49 36.7% 2 50% - - - NULL SIRT1 23411 genome.wustl.edu 37 10 69676200 69676200 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142498.1 +1 reviewed p.F403 1.000 286 0% 343 33.5% 6 33.3% - - - NULL ATOH7 220202 genome.wustl.edu 37 10 69991035 69991035 + Missense_Mutation SNP C C G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_145178.2 -1 validated p.E134Q 0.928 27 0% 19 47.4% 0 - possibly_damaging(0.807) tolerated(0.43) neutral(0.318) NULL TET1 80312 genome.wustl.edu 37 10 70451156 70451156 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030625.2 +1 validated p.H1999L 1.000 189 0% 246 32.9% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL NODAL 4838 genome.wustl.edu 37 10 72195098 72195098 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018055.4 -1 reviewed p.E279K 0.997 93 0% 101 41.6% 0 - possibly_damaging(0.903) tolerated(0.65) neutral(0.361) HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 CDH23 64072 genome.wustl.edu 37 10 73491989 73491989 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022124.5 +1 reviewed p.A1321T 0.739 118 0% 155 27.1% 0 - benign(0.003) tolerated(0.51) neutral(0.009) HMMPfam_Cadherin,superfamily_Cadherin-like TTC18 118491 genome.wustl.edu 37 10 75095219 75095219 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_145170.3 -1 validated p.R286C 1.000 356 0% 448 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP54 159195 genome.wustl.edu 37 10 75279711 75279711 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152586.3 -1 provisional p.T841M 1.000 189 0% 166 38.6% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SYNPO2L 79933 genome.wustl.edu 37 10 75408402 75408402 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001114133.1 -1 validated p.D336 0.998 53 0% 45 22.2% 0 - - - - NULL PLAU 5328 genome.wustl.edu 37 10 75675123 75675123 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002658.3 +1 reviewed p.A362V 1.000 152 0% 167 39.5% 208 51.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KAT6B 23522 genome.wustl.edu 37 10 76735730 76735730 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012330.2 +1 validated p.D545 1.000 224 0% 195 30.8% 0 - - - - NULL DLG5 9231 genome.wustl.edu 37 10 79588739 79588739 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004747.3 -1 reviewed p.S730 0.896 24 0% 35 34.3% 20 15% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like ZMIZ1 57178 genome.wustl.edu 37 10 81049608 81049608 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020338.3 +1 validated p.T168S 1.000 135 0% 165 32.1% 14 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SFTPA2 729238 genome.wustl.edu 37 10 81317029 81317029 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001098668.2 -1 reviewed p.Y228C 1.000 277 0% 329 27.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 LRIT1 26103 genome.wustl.edu 37 10 85997013 85997013 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015613.2 -1 validated p.G184 0.001 31 0% 35 31.4% 0 - - - - superfamily_SSF52058 LDB3 11155 genome.wustl.edu 37 10 88478489 88478489 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007078.2 +1 reviewed p.V621 1.000 78 0% 119 31.1% 0 - - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) SNCG 6623 genome.wustl.edu 37 10 88718570 88718570 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003087.2 +1 reviewed p.Y39C 1.000 237 0% 584 12.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Synuclein RPP30 10556 genome.wustl.edu 37 10 92635816 92635816 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001104546.1 +1 validated p.L77 0.714 489 0% 450 31.8% 17 41.1% - - - HMMPfam_RNase_P_p30,superfamily_PHP domain-like BTAF1 9044 genome.wustl.edu 37 10 93767940 93767940 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003972.2 +1 validated p.R1241* 1.000 151 0% 156 28.8% 5 40% - - - superfamily_ARM repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases LGI1 9211 genome.wustl.edu 37 10 95549870 95549870 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005097.2 +1 reviewed p.N149I 1.000 132 0% 118 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like CYP2C18 1562 genome.wustl.edu 37 10 96466679 96466679 + Missense_Mutation SNP C C T rs184571563 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000772.2 +1 reviewed p.R261W 0.948 261 0% 221 33.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 SLIT1 6585 genome.wustl.edu 37 10 98763898 98763898 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003061.2 -1 validated p.G1264 0.001 222 0% 286 30.1% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 SLIT1 6585 genome.wustl.edu 37 10 98763958 98763958 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003061.2 -1 validated p.G1244 0.997 150 0% 197 33.5% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 LOXL4 84171 genome.wustl.edu 37 10 100016617 100016617 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032211.6 -1 reviewed p.C450R 1.000 74 0% 115 35.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like ABCC2 1244 genome.wustl.edu 37 10 101610401 101610401 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000392.3 +1 reviewed p.L1452 0.982 71 0% 80 28.7% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases LZTS2 84445 genome.wustl.edu 37 10 102766459 102766459 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032429.1 +1 provisional p.R515Q 1.000 22 0% 24 45.8% 56 48.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Fez1 SFXN3 81855 genome.wustl.edu 37 10 102798401 102798401 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030971.3 +1 validated p.R262H 1.000 687 0% 920 29.2% 13 23% possibly_damaging(0.908) tolerated(0.08) deleterious(0.661) HMMPfam_Mtc HPS6 79803 genome.wustl.edu 37 10 103826154 103826154 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024747.4 +1 reviewed p.P308H 0.026 59 1.7% 61 27.9% 17 47% probably_damaging(0.971) tolerated(0.13) deleterious(0.665) NULL GBF1 8729 genome.wustl.edu 37 10 104129687 104129687 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004193.1 +1 provisional p.R1094 1.000 261 0% 264 27.3% 15 60% - - - NULL CALHM3 119395 genome.wustl.edu 37 10 105233042 105233042 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001129742.1 -1 validated p.C321 0.000 18 0% 23 21.7% 0 - - - - NULL SLK 9748 genome.wustl.edu 37 10 105727517 105727517 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014720.2 +1 provisional p.N5I 1.000 214 0% 330 33.6% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC147 159686 genome.wustl.edu 37 10 106207499 106207499 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001008723.1 +1 validated p.R767H 1.000 52 0% 49 28.6% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TCF7L2 6934 genome.wustl.edu 37 10 114910866 114910866 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030756.4 +1 reviewed p.G306S 1.000 224 0% 253 34% 21 52.3% benign(0) tolerated(0.72) neutral(0.002) NULL DCLRE1A 9937 genome.wustl.edu 37 10 115612493 115612493 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014881.3 -1 provisional p.R150H 0.000 182 0% 247 35.2% 8 37.5% possibly_damaging(0.56) deleterious(0.02) deleterious(0.574) NULL PNLIP 5406 genome.wustl.edu 37 10 118307929 118307929 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000936.2 +1 reviewed p.T87A 1.000 305 0% 315 27.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases INPP5F 22876 genome.wustl.edu 37 10 121556374 121556374 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014937.2 +1 reviewed p.H273Y 1.000 213 0% 230 30% 2 100% possibly_damaging(0.711) tolerated(0.59) neutral(0.262) HMMPfam_Syja_N FGFR2 2263 genome.wustl.edu 37 10 123246935 123246935 + Missense_Mutation SNP G G A rs113014479 TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022970.3 -1 reviewed p.R665W 1.000 158 0.6% 130 38.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like BTBD16 118663 genome.wustl.edu 37 10 124045761 124045761 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144587.2 +1 validated p.R128Q 0.116 86 1.2% 74 28.4% 0 - benign(0.012) tolerated(0.4) neutral(0.017) superfamily_POZ domain MKI67 4288 genome.wustl.edu 37 10 129913862 129913862 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002417.4 -1 reviewed p.Y270 0.000 320 0% 296 27.4% 2 100% - - - NULL GPR123 84435 genome.wustl.edu 37 10 134906544 134906544 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000392609 +1 known p.P426 0.015 152 0% 197 29.4% 0 - - - - NULL MTG1 92170 genome.wustl.edu 37 10 135232995 135232995 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138384.2 +1 validated p.H255R 1.000 99 0% 166 30.1% 181 56.9% benign(0.092) tolerated(0.35) neutral(0.028) NULL MTG1 92170 genome.wustl.edu 37 10 135233628 135233628 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138384.2 +1 validated p.D322N 0.028 71 0% 84 42.9% 153 41.8% probably_damaging(0.954) tolerated(0.07) deleterious(0.717) NULL PKP3 11187 genome.wustl.edu 37 11 403710 403710 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007183.2 +1 reviewed p.L672 1.000 118 0% 129 33.3% 286 50% - - - superfamily_ARM-type_fold PHRF1 57661 genome.wustl.edu 37 11 610285 610285 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020901.2 +1 validated p.E1451K 0.239 55 0% 51 35.3% 63 33.3% benign(0.326) deleterious(0) deleterious(0.546) NULL EPS8L2 64787 genome.wustl.edu 37 11 722523 722523 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022772.3 +1 reviewed p.S394 0.482 62 0% 69 36.2% 242 56.6% - - - NULL PNPLA2 57104 genome.wustl.edu 37 11 821676 821676 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020376.2 +1 provisional p.R79Q 1.000 98 0% 112 25% 85 40% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like BRSK2 9024 genome.wustl.edu 37 11 1462146 1462146 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003957.2 +1 validated p.S134N 1.000 21 0% 49 30.6% 0 - benign(0.001) tolerated(0.17) neutral(0.059) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase OR56A3 390083 genome.wustl.edu 37 11 5968641 5968641 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001003443.2 +1 provisional p.V22A 0.091 335 0% 351 32.2% 0 - benign(0) deleterious(0.03) neutral(0.364) superfamily_SSF81321 OR56A5 390084 genome.wustl.edu 37 11 5989351 5989351 + Missense_Mutation SNP C C T rs138339957 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002343047.1 -1 model p.R125H 1.000 141 0.7% 168 23.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CCKBR 887 genome.wustl.edu 37 11 6281291 6281291 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_176875.2 +1 reviewed p.R45C 1.000 14 0% 18 33.3% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_Family A G protein-coupled receptor-like HPX 3263 genome.wustl.edu 37 11 6458341 6458341 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000613.2 -1 reviewed p.C257Y 0.703 125 0% 160 16.9% 0 - unknown(0) tolerated(0.61) - superfamily_Hemopexin TUB 7275 genome.wustl.edu 37 11 8123160 8123160 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003320.4 +1 reviewed p.C560 0.801 111 0% 146 27.4% 0 - - - - superfamily_Tubby_C,PatternScan_TUB_2 ADM 133 genome.wustl.edu 37 11 10327552 10327552 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001124.1 +1 reviewed p.Y52C 0.338 90 0% 111 32.4% 77 41.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Adrenomedullin COPB1 1315 genome.wustl.edu 37 11 14490361 14490361 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001144061.1 -1 reviewed p.I671V 1.000 366 0% 429 30.8% 59 47.4% benign(0.168) tolerated(0.16) neutral(0.074) HMMPfam_Coatamer_beta_C TPH1 7166 genome.wustl.edu 37 11 18062276 18062276 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004179.2 -1 reviewed p.S12P 1.000 256 0% 306 25.5% 0 - benign(0.001) deleterious(0.05) neutral(0.345) superfamily_ACT-like UEVLD 55293 genome.wustl.edu 37 11 18591820 18591820 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001040697.1 -1 validated p.G100R 1.000 290 0% 349 33.2% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UEV,superfamily_UBC-like IGSF22 283284 genome.wustl.edu 37 11 18745680 18745680 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173588.3 -1 validated p.V35A 0.997 236 0% 328 31.1% 0 - benign(0.366) deleterious(0) deleterious(0.561) NULL KCNA4 3739 genome.wustl.edu 37 11 30033087 30033087 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002233.2 -1 reviewed p.V380A 0.998 89 0% 136 22.8% 0 - benign(0.024) tolerated(0.45) neutral(0.013) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels PAX6 5080 genome.wustl.edu 37 11 31823250 31823250 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001604.4 -1 reviewed p.G86 1.000 205 0% 246 29.7% 4 50% - - - HMMPfam_PAX,HMMSmart_PAX,superfamily_Homeodomain_like HIPK3 10114 genome.wustl.edu 37 11 33370072 33370072 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005734.3 +1 validated p.N792D 1.000 66 0% 48 27.1% 8 37.5% probably_damaging(0.976) tolerated(0.23) neutral(0.459) NULL TRAF6 7189 genome.wustl.edu 37 11 36511743 36511743 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004620.2 -1 reviewed p.N405S 1.000 270 0% 316 29.1% 10 70% benign(0.044) deleterious(0.04) neutral(0.351) HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like TSPAN18 90139 genome.wustl.edu 37 11 44941475 44941475 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_130783.4 +1 validated p.E180 0.662 129 0% 161 32.3% 0 - - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin PEX16 9409 genome.wustl.edu 37 11 45935952 45935952 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_057174.2 -1 reviewed p.H203 0.000 46 0% 34 32.4% 74 41.8% - - - HMMPfam_Pex16 DGKZ 8525 genome.wustl.edu 37 11 46388203 46388203 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001105540.1 +1 reviewed p.A133T 0.001 25 0% 40 40% 1 0% benign(0.005) tolerated(0.27) neutral(0.034) NULL ZNF408 79797 genome.wustl.edu 37 11 46724540 46724540 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024741.2 +1 validated p.V133 1.000 195 0% 338 30.2% 7 71.4% - - - NULL CELF1 10658 genome.wustl.edu 37 11 47504377 47504377 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001025596.2 -1 reviewed p.A186V 1.000 202 0% 210 32.4% 23 30.4% probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_RNA-binding domain RBD ENSG00000205035 0 genome.wustl.edu 37 11 49830171 49830171 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000357667 +1 known p.R366 0.113 88 0% 98 22.4% 0 - - - - NULL OR4C12 283093 genome.wustl.edu 37 11 50003800 50003800 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005270.2 -1 validated p.I80F 0.457 179 0% 152 36.2% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_7tm_1,superfamily_SSF81321 OR5D18 219438 genome.wustl.edu 37 11 55587280 55587280 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001001952.1 +1 provisional p.P59T 1.000 571 0.2% 645 30.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 OR5J2 282775 genome.wustl.edu 37 11 55944764 55944764 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005492.1 +1 provisional p.A224D 0.002 167 0% 145 26.2% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_7tm_1,superfamily_SSF81321 OR5M3 219482 genome.wustl.edu 37 11 56237725 56237725 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001004742.1 -1 provisional p.L83 0.002 261 0% 186 26.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZDHHC5 25921 genome.wustl.edu 37 11 57461262 57461262 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015457.2 +1 validated p.G254W 1.000 169 0% 185 31.9% 78 51.2% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) NULL OR10Q1 219960 genome.wustl.edu 37 11 57995729 57995729 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001004471.2 -1 validated p.V207M 0.946 68 0% 81 34.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 FAM111A 63901 genome.wustl.edu 37 11 58920814 58920814 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142519.1 +1 validated p.A558V 0.959 169 0% 181 31.5% 22 31.8% possibly_damaging(0.578) tolerated(0.86) neutral(0.199) superfamily_Pept_Ser_Cys OR4D11 219986 genome.wustl.edu 37 11 59271785 59271785 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001004706.1 +1 provisional p.V246A 1.000 379 0% 534 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 MS4A10 341116 genome.wustl.edu 37 11 60567335 60567335 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_206893.3 +1 validated p.W253R 0.000 205 0% 263 30.4% 0 - possibly_damaging(0.649) deleterious(0) deleterious(0.672) NULL ZP1 22917 genome.wustl.edu 37 11 60637254 60637254 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_207341.2 +1 validated p.S188N 0.134 166 0% 289 25.3% 0 - benign(0.195) deleterious(0.02) neutral(0.402) NULL PRPF19 27339 genome.wustl.edu 37 11 60666753 60666753 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014502.4 -1 validated p.P284 0.082 75 0% 99 27.3% 140 47.8% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 PRPF19 27339 genome.wustl.edu 37 11 60668095 60668095 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014502.4 -1 validated p.H263N 1.000 289 0% 342 24.3% 125 23.2% possibly_damaging(0.832) deleterious(0) deleterious(0.762) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 DDB1 1642 genome.wustl.edu 37 11 61094352 61094352 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001923.3 -1 validated p.R188Q 1.000 207 0% 187 33.2% 44 52.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FADS1 3992 genome.wustl.edu 37 11 61574172 61574172 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013402.4 -1 reviewed p.M314V 1.000 648 0% 1001 32.1% 6 33.3% possibly_damaging(0.637) deleterious(0.02) deleterious(0.606) HMMPfam_FA_desaturase FADS1 3992 genome.wustl.edu 37 11 61578343 61578343 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013402.4 -1 reviewed p.P265 0.070 236 0% 315 34.3% 8 12.5% - - - HMMPfam_FA_desaturase AHNAK 79026 genome.wustl.edu 37 11 62295029 62295029 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001620.1 -1 validated p.S2287N 0.003 419 0% 470 29.1% 6 33.3% benign(0.002) tolerated(1) - HMMPfam_CheC INTS5 80789 genome.wustl.edu 37 11 62414856 62414856 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030628.1 -1 provisional p.H899R 0.998 64 0% 74 24.3% 45 37.7% benign(0) tolerated(0.07) neutral(0.319) NULL SLC22A10 387775 genome.wustl.edu 37 11 63067070 63067070 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001039752.3 +1 validated p.R347C 0.007 273 0% 240 35.8% 0 - possibly_damaging(0.896) tolerated(0.09) deleterious(0.650) HMMPfam_MFS_1,superfamily_MFS general substrate transporter COX8A 1351 genome.wustl.edu 37 11 63743727 63743727 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004074.2 +1 reviewed p.V49M 0.836 324 0.3% 437 28.1% 1332 45.2% possibly_damaging(0.909) deleterious(0.01) deleterious(0.768) HMMPfam_COX8,superfamily_Mitochondrial cytochrome c oxidase subunit VIIIb (aka IX) GPR137 56834 genome.wustl.edu 37 11 64056551 64056551 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000377702 +1 known p.I308 0.998 76 0% 68 30.9% 39 30.7% unknown(0) - - NULL NRXN2 9379 genome.wustl.edu 37 11 64375017 64375017 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015080.2 -1 reviewed p.R1597H 0.986 16 0% 13 46.2% 0 - probably_damaging(0.986) tolerated(0.14) deleterious(0.684) NULL NRXN2 9379 genome.wustl.edu 37 11 64428341 64428341 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015080.2 -1 reviewed p.T690M 0.979 41 0% 29 34.5% 0 - possibly_damaging(0.942) tolerated(0.14) deleterious(0.637) superfamily_Concanavalin A-like lectins/glucanases SF1 7536 genome.wustl.edu 37 11 64537457 64537457 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004630.3 -1 reviewed p.V153A 1.000 248 0% 271 39.5% 105 58% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) MAP4K2 5871 genome.wustl.edu 37 11 64559515 64559515 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004579.2 -1 reviewed p.P653L 0.979 25 0% 27 22.2% 23 39.1% benign(0.02) tolerated(1) neutral(0.001) HMMPfam_CNH,HMMSmart_CNH DPF2 5977 genome.wustl.edu 37 11 65116351 65116351 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006268.3 +1 reviewed p.R350C 1.000 378 0% 452 30.5% 44 43.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD MAP3K11 4296 genome.wustl.edu 37 11 65375752 65375752 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002419.3 -1 reviewed p.S303G 1.000 60 0% 74 24.3% 79 43% probably_damaging(1) tolerated(0.31) deleterious(0.527) HMMSmart_TyrKc,superfamily_Kinase_like,HMMPfam_Pkinase GAL3ST3 89792 genome.wustl.edu 37 11 65810948 65810948 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033036.2 -1 reviewed p.R109H 1.000 21 0% 20 35% 0 - benign(0.016) tolerated(0.29) neutral(0.030) HMMPfam_Gal-3-0_sulfotr SF3B2 10992 genome.wustl.edu 37 11 65826347 65826347 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006842.2 +1 reviewed p.R338Q 0.997 104 0% 111 39.6% 53 54.7% possibly_damaging(0.781) tolerated(0.13) deleterious(0.545) NULL RIN1 9610 genome.wustl.edu 37 11 66102870 66102870 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000434553 -1 known p.L2F 0.050 84 0% 142 28.2% 0 - - - - NULL SLC29A2 3177 genome.wustl.edu 37 11 66131701 66131701 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001532.2 -1 validated p.A418 0.854 95 0% 132 40.2% 27 48.1% - - - HMMPfam_Nucleoside_tran BBS1 582 genome.wustl.edu 37 11 66283012 66283012 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024649.4 +1 reviewed p.D145G 1.000 153 0% 191 33% 18 22.2% benign(0.038) tolerated(0.7) neutral(0.004) NULL CCS 9973 genome.wustl.edu 37 11 66373195 66373195 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005125.1 +1 reviewed p.R232C 1.000 123 0.8% 135 28.1% 58 22.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sod_Cu,superfamily_SOD_Cu_Zn SPTBN2 6712 genome.wustl.edu 37 11 66455060 66455060 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006946.2 -1 reviewed p.R2187Q 0.018 44 0% 45 24.4% 53 47.1% benign(0.064) tolerated(0.57) neutral(0.010) HMMSmart_SM00150 PC 5091 genome.wustl.edu 37 11 66637839 66637839 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000920.3 -1 reviewed p.P279 0.043 55 0% 57 47.4% 2 0% - - - HMMPfam_CPSase_L_D2,superfamily_SSF56059 RAD9A 5883 genome.wustl.edu 37 11 67160985 67160985 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004584.2 +1 reviewed p.R85C 1.000 131 0% 165 29.7% 34 52.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rad9,superfamily_DNA clamp RPS6KB2 6199 genome.wustl.edu 37 11 67200453 67200453 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003952.2 +1 reviewed p.C216Y 1.000 43 0% 42 21.4% 78 52.5% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ALDH3B2 222 genome.wustl.edu 37 11 67430749 67430749 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000695.3 -1 reviewed p.Y365 0.000 140 0% 187 40.6% 23 43.4% unknown(0) - - NULL SUV420H1 51111 genome.wustl.edu 37 11 67926281 67926281 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017635.3 -1 reviewed p.R511I 0.986 257 0% 244 33.2% 5 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CPT1A 1374 genome.wustl.edu 37 11 68564342 68564342 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001876.3 -1 reviewed p.N251 1.000 73 0% 89 27% 22 36.3% - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases PPFIA1 8500 genome.wustl.edu 37 11 70194464 70194464 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003626.2 +1 reviewed p.T701A 1.000 197 0% 251 39.4% 11 45.4% possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) NULL ARRB1 408 genome.wustl.edu 37 11 74980000 74980000 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004041.3 -1 validated p.D342 0.556 196 0% 285 34.4% 6 33.3% - - - HMMPfam_Arrestin_C,superfamily_E set domains MOGAT2 80168 genome.wustl.edu 37 11 75431190 75431190 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025098.2 +1 provisional p.Y82C 1.000 307 0% 399 31.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DAGAT RSF1 51773 genome.wustl.edu 37 11 77388022 77388022 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016578.3 -1 validated p.I1052 1.000 352 0% 262 24.4% 7 42.8% - - - NULL GAB2 9846 genome.wustl.edu 37 11 77934595 77934595 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080491.2 -1 reviewed p.I477N 1.000 316 0% 380 29.7% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL ODZ4 26011 genome.wustl.edu 37 11 78369853 78369853 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001098816.2 -1 validated p.L2520 0.649 128 0% 141 36.2% 0 - - - - NULL ODZ4 26011 genome.wustl.edu 37 11 78413244 78413244 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001098816.2 -1 validated p.A1472T 1.000 149 0.7% 177 36.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF101898,superfamily_TolB_C CHORDC1 26973 genome.wustl.edu 37 11 89936592 89936592 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012124.2 -1 validated p.K225E 1.000 201 0% 234 25.6% 16 50% benign(0.018) deleterious(0.05) neutral(0.346) NULL FAT3 120114 genome.wustl.edu 37 11 92531306 92531306 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001008781.2 +1 validated p.D1709 0.066 154 0% 114 34.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like KIAA1731 85459 genome.wustl.edu 37 11 93462942 93462942 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033395.1 +1 validated p.S2521Y 0.002 163 0% 112 28.6% 11 72.7% benign(0.354) deleterious(0) deleterious(0.556) NULL FOLR4 390243 genome.wustl.edu 37 11 94039876 94039876 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000328458 +1 known p.S112 0.015 118 0% 100 27% 0 - - - - HMMPfam_Folate_rec CEP57 9702 genome.wustl.edu 37 11 95560970 95560970 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014679.3 +1 validated p.A302 0.002 226 0% 224 33% 21 23.8% - - - HMMPfam_DUF1167 DYNC2H1 79659 genome.wustl.edu 37 11 102984957 102984957 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080463.1 +1 reviewed p.D164 1.000 223 0% 188 30.9% 0 - - - - HMMPfam_DHC_N1 DYNC2H1 79659 genome.wustl.edu 37 11 103178561 103178561 + Splice_Site SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080463.1 +1 reviewed e79+1 1.000 192 0.5% 186 32.3% 0 - - - - - NPAT 4863 genome.wustl.edu 37 11 108060032 108060032 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002519.2 -1 validated p.E119 1.000 326 0% 410 30.7% 3 33.3% - - - NULL ATM 472 genome.wustl.edu 37 11 108121785 108121785 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000051.3 +1 reviewed p.A531 0.987 213 0% 211 35.1% 0 - - - - superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108168036 108168036 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000051.3 +1 reviewed p.M1644I 1.000 222 0% 246 28.5% 2 0% benign(0) tolerated(0.42) neutral(0.014) superfamily_ARM repeat NCAM1 4684 genome.wustl.edu 37 11 113085170 113085170 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000401611 +1 known p.S214 0.000 216 0% 255 29.8% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NCAM1 4684 genome.wustl.edu 37 11 113103490 113103490 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000401611 +1 known p.V364 0.997 155 0% 197 29.9% 0 - - - - HMMSmart_IGc2,superfamily_SSF48726 REXO2 25996 genome.wustl.edu 37 11 114320588 114320588 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015523.3 +1 validated p.E202G 1.000 369 0% 423 33.3% 81 45.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00479,superfamily_Ribonuclease H-like,HMMPfam_Exonuc_X-T FAM55B 120406 genome.wustl.edu 37 11 114568999 114568999 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182495.5 +1 validated p.T122M 0.000 660 0% 802 27.6% 0 - benign(0.234) tolerated(0.14) neutral(0.273) superfamily_E set domains MLL 4297 genome.wustl.edu 37 11 118342585 118342585 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005933.2 +1 validated p.H237 0.060 101 0% 119 29.4% 0 - - - - NULL PHLDB1 23187 genome.wustl.edu 37 11 118498590 118498590 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001144758.1 +1 validated p.R351W 0.998 24 0% 22 40.9% 6 33.3% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL TREH 11181 genome.wustl.edu 37 11 118531435 118531435 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000264029 -1 known p.R305 0.774 78 0% 105 19% 0 - - - - HMMPfam_Trehalase,superfamily_Six-hairpin glycosidases HYOU1 10525 genome.wustl.edu 37 11 118923492 118923492 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001130991.1 -1 reviewed p.R282C 1.000 121 0% 137 29.2% 70 42.8% benign(0.027) deleterious(0.05) neutral(0.347) HMMPfam_HSP70,superfamily_Actin-like ATPase domain VPS11 55823 genome.wustl.edu 37 11 118948275 118948275 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000300793 +1 known p.G496V 1.000 209 0% 262 14.5% 21 19% - - - superfamily_ARM repeat NLRX1 79671 genome.wustl.edu 37 11 119045218 119045218 + Silent SNP C C T rs191728935 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024618.2 +1 reviewed p.Y302 0.008 156 0% 175 30.9% 8 62.5% - - - HMMPfam_NACHT NLRX1 79671 genome.wustl.edu 37 11 119050572 119050572 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024618.2 +1 reviewed p.P614 0.162 51 0% 33 33.3% 13 53.8% - - - NULL CBL 867 genome.wustl.edu 37 11 119158653 119158653 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005188.2 +1 reviewed p.A678D 1.000 511 0% 569 31.6% 0 - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) NULL TRIM29 23650 genome.wustl.edu 37 11 120008361 120008361 + Missense_Mutation SNP G G C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012101.3 -1 reviewed p.L127V 0.944 42 0% 27 40.7% 26 61.5% unknown(0) - - NULL TRIM29 23650 genome.wustl.edu 37 11 120008668 120008668 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012101.3 -1 reviewed p.G24 0.688 23 0% 32 34.4% 27 44.4% - - - NULL BLID 414899 genome.wustl.edu 37 11 121986546 121986546 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001001786.2 -1 reviewed p.I29V 0.000 113 0% 78 28.2% 0 - unknown(0) - - NULL GRAMD1B 57476 genome.wustl.edu 37 11 123489387 123489387 + Splice_Site SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000322282 +1 known e17-1 0.000 83 0% 107 12.1% 0 - - - - - TMEM218 219854 genome.wustl.edu 37 11 124971136 124971136 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080546.1 -1 provisional p.P58 0.945 133 0% 191 28.8% 13 46.1% unknown(0) - - NULL ADAMTS8 11095 genome.wustl.edu 37 11 130286173 130286173 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007037.4 -1 reviewed p.F383 0.888 65 0% 71 36.6% 1 100% - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" JAM3 83700 genome.wustl.edu 37 11 134018494 134018494 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032801.3 +1 reviewed p.V300 0.002 151 0% 175 29.7% 3 0% - - - NULL B3GAT1 27087 genome.wustl.edu 37 11 134252806 134252806 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018644.3 -1 reviewed p.V239A 0.990 49 0% 51 35.3% 0 - benign(0.013) tolerated(0.09) neutral(0.297) HMMPfam_Glyco_transf_43,superfamily_SSF53448 SLC6A12 6539 genome.wustl.edu 37 12 302534 302534 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001122847.1 -1 validated p.R480H 1.000 160 0% 193 27.5% 11 27.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SNF KDM5A 5927 genome.wustl.edu 37 12 463287 463287 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001042603.1 -1 reviewed p.P328 0.992 310 0.6% 337 26.1% 4 25% - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD ERC1 23085 genome.wustl.edu 37 12 1346030 1346030 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_178040.2 +1 reviewed p.R816Q 0.999 274 0% 409 33% 3 66.6% possibly_damaging(0.687) tolerated(0.49) neutral(0.256) HMMPfam_Cast TEAD4 7004 genome.wustl.edu 37 12 3104142 3104142 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003213.2 +1 reviewed p.D70 0.601 75 0% 79 32.9% 36 41.6% - - - HMMPfam_TEA,HMMSmart_TEA C12orf5 57103 genome.wustl.edu 37 12 4461522 4461522 + Missense_Mutation SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020375.2 +1 reviewed p.N160H 0.027 193 0% 163 30.7% 19 52.6% possibly_damaging(0.44) tolerated(0.14) neutral(0.393) HMMPfam_PGAM,superfamily_SSF53254 FGF23 8074 genome.wustl.edu 37 12 4479909 4479909 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020638.2 -1 reviewed p.T119M 0.017 20 0% 23 34.8% 0 - possibly_damaging(0.842) tolerated(0.21) neutral(0.366) HMMPfam_FGF,HMMSmart_FGF,superfamily_Cytok_IL1_like KCNA1 3736 genome.wustl.edu 37 12 5021723 5021723 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000217.2 +1 reviewed p.A393 1.000 85 0% 72 23.6% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 VWF 7450 genome.wustl.edu 37 12 6120864 6120864 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000552.3 -1 reviewed p.R1921W 0.238 50 0% 62 38.7% 23 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PLEKHG6 55200 genome.wustl.edu 37 12 6421468 6421468 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001144856.1 +1 validated p.R26W 0.193 89 0% 82 35.4% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLEKHG6 55200 genome.wustl.edu 37 12 6427576 6427576 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001144856.1 +1 validated p.R422Q 0.973 475 0% 860 32% 13 30.7% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SCNN1A 6337 genome.wustl.edu 37 12 6471354 6471354 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001038.5 -1 reviewed p.D246E 0.984 97 0% 135 25.2% 35 45.7% benign(0.063) tolerated(0.1) neutral(0.290) HMMPfam_ASC NCAPD2 9918 genome.wustl.edu 37 12 6640213 6640213 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014865.3 +1 validated p.V1364A 0.988 123 0% 126 24.6% 121 52% possibly_damaging(0.665) tolerated(0.62) neutral(0.239) NULL NOP2 4839 genome.wustl.edu 37 12 6666419 6666419 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001033714.1 -1 validated p.T723A 0.000 194 0% 164 29.3% 123 42.2% benign(0) tolerated(0.32) neutral(0.024) NULL LPAR5 57121 genome.wustl.edu 37 12 6729479 6729479 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142961.1 -1 reviewed p.G312 0.002 21 0% 16 25% 5 40% - - - superfamily_Family A G protein-coupled receptor-like C1RL 51279 genome.wustl.edu 37 12 7249440 7249440 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016546.2 -1 validated p.S337 0.033 141 0% 171 40.4% 18 16.6% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys CD163 9332 genome.wustl.edu 37 12 7656281 7656281 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004244.4 -1 validated p.S2 0.001 358 0% 266 26.3% 0 - - - - NULL MFAP5 8076 genome.wustl.edu 37 12 8804287 8804287 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003480.2 -1 reviewed p.A73V 0.763 254 0% 229 24.5% 2 50% possibly_damaging(0.832) tolerated(0.13) deleterious(0.570) HMMPfam_MAGP CLEC1B 51266 genome.wustl.edu 37 12 10147683 10147683 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000428126 -1 known p.D124G 0.013 103 0% 84 19% 0 - benign(0.025) tolerated(0.32) neutral(0.025) superfamily_C-type lectin-like DUSP16 80824 genome.wustl.edu 37 12 12674030 12674030 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030640.2 -1 reviewed p.M1I 1.000 447 0% 438 32.2% 0 - unknown(0) - - NULL GRIN2B 2904 genome.wustl.edu 37 12 13717238 13717238 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000834.3 -1 reviewed p.S978 1.000 185 0% 317 30.6% 0 - - - - HMMPfam_NMDAR2_C H2AFJ 55766 genome.wustl.edu 37 12 14927761 14927761 + Splice_Site SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000228929 +1 known e1+2 1.000 105 0% 180 30.6% 176 0% - - - - WBP11 51729 genome.wustl.edu 37 12 14947559 14947559 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016312.2 -1 reviewed p.V211 0.999 88 0% 139 16.5% 59 13.5% - - - NULL GYS2 2998 genome.wustl.edu 37 12 21727230 21727230 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021957.3 -1 reviewed p.V176I 0.934 284 0% 290 34.1% 0 - benign(0) tolerated(0.88) - HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase LDHB 3945 genome.wustl.edu 37 12 21797012 21797012 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002300.6 -1 reviewed p.V93A 1.000 201 0% 161 29.8% 320 39.3% benign(0.12) deleterious(0.03) neutral(0.374) HMMPfam_Ldh_1_N,superfamily_NAD(P)-binding Rossmann-fold domains KIAA0528 9847 genome.wustl.edu 37 12 22643154 22643154 + Splice_Site SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014802.1 -1 predicted e11-2 0.997 146 0% 124 32.3% 0 - - - - - LRMP 4033 genome.wustl.edu 37 12 25260873 25260873 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006152.2 +1 reviewed p.G460D 0.998 218 0% 195 32.3% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MRVI1 KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T rs112445441 byCluster TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033360.2 -1 reviewed p.G13D 1.000 325 0% 346 28% 13 23% benign(0.184) deleterious(0) neutral(0.462) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ITPR2 3709 genome.wustl.edu 37 12 26775310 26775310 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002223.2 -1 validated p.D1051N 1.000 288 0% 279 29.4% 1 100% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL ASUN 55726 genome.wustl.edu 37 12 27087544 27087544 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018164.2 -1 validated p.D82G 1.000 201 0% 215 31.6% 11 36.3% possibly_damaging(0.566) tolerated(0.07) deleterious(0.512) HMMPfam_DUF2151 ERGIC2 51290 genome.wustl.edu 37 12 29494149 29494149 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016570.2 -1 validated p.V358 0.142 333 0% 369 29.3% 41 41.4% possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) NULL OVCH1 341350 genome.wustl.edu 37 12 29596323 29596323 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_183378.2 -1 validated p.E1043G 0.802 415 0% 323 31.6% 0 - possibly_damaging(0.806) tolerated(0.26) neutral(0.338) superfamily_Spermadhesin CUB domain DENND5B 160518 genome.wustl.edu 37 12 31562305 31562305 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144973.3 -1 validated p.R899* 1.000 138 0% 110 36.4% 0 - - - - HMMPfam_RUN,HMMSmart_SM00593 DNM1L 10059 genome.wustl.edu 37 12 32884055 32884055 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012062.3 +1 reviewed p.I396S 1.000 455 0% 531 29.2% 37 43.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Dynamin_M C12orf40 283461 genome.wustl.edu 37 12 40040227 40040227 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001031748.2 +1 validated p.V100A 0.001 181 0% 225 27.1% 0 - possibly_damaging(0.636) - - NULL ADAMTS20 80070 genome.wustl.edu 37 12 43887030 43887030 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025003.3 -1 validated p.S298 1.000 357 0% 367 31.9% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" TMEM117 84216 genome.wustl.edu 37 12 44782202 44782202 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032256.1 +1 provisional p.Y431C 1.000 295 0% 222 31.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ANO6 196527 genome.wustl.edu 37 12 45797319 45797319 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142679.1 +1 validated p.P627L 1.000 124 0% 165 12.1% 16 6.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF590 FAM113B 91523 genome.wustl.edu 37 12 47629076 47629076 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138371.1 +1 predicted p.R77H 0.998 95 0% 104 33.7% 17 47% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MLL2 8085 genome.wustl.edu 37 12 49435215 49435215 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003482.3 -1 validated p.L2113P 1.000 19 0% 25 36% 2 0% unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49438650 49438650 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003482.3 -1 validated p.R1614W 1.000 166 0% 228 30.3% 0 - unknown(0) - - NULL TUBA1A 7846 genome.wustl.edu 37 12 49579664 49579664 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006009.2 -1 reviewed p.G162D 1.000 231 0% 294 25.5% 67 1.4% possibly_damaging(0.897) deleterious(0) deleterious(0.798) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like TROAP 10024 genome.wustl.edu 37 12 49722813 49722813 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005480.3 +1 validated p.V332A 0.908 157 0% 143 31.5% 13 46.1% possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL ASIC1 41 genome.wustl.edu 37 12 50475115 50475115 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020039.2 +1 reviewed p.V530M 1.000 28 0% 57 19.3% 1 0% benign(0.051) tolerated(0.11) neutral(0.275) NULL LIMA1 51474 genome.wustl.edu 37 12 50571756 50571756 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001113546.1 -1 validated p.G458 1.000 465 0% 590 33.2% 71 40.8% - - - superfamily_Glucocorticoid receptor-like (DNA-binding domain) FAM186A 121006 genome.wustl.edu 37 12 50749133 50749133 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145475.1 -1 provisional p.Y494 0.000 240 0% 199 36.7% 0 - - - - NULL KRT75 9119 genome.wustl.edu 37 12 52825420 52825420 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004693.2 -1 reviewed p.D259 0.670 220 0% 273 35.2% 0 - - - - HMMPfam_Filament PCBP2 5094 genome.wustl.edu 37 12 53858594 53858594 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005016.5 +1 reviewed p.P214 1.000 138 0% 188 25.5% 582 42.9% - - - NULL MAP3K12 7786 genome.wustl.edu 37 12 53875972 53875972 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006301.2 -1 reviewed p.R745H 1.000 329 0% 458 22.3% 3 0% possibly_damaging(0.832) tolerated(0.63) neutral(0.321) NULL PPP1R1A 5502 genome.wustl.edu 37 12 54978106 54978106 + Splice_Site SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006741.3 -1 validated e2-2 1.000 174 0% 299 31.4% 0 - - - - - PMEL 6490 genome.wustl.edu 37 12 56359746 56359746 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006928.3 -1 validated p.A17D 0.917 490 0% 524 32.3% 0 - unknown(0) deleterious(0.05) - NULL ANKRD52 283373 genome.wustl.edu 37 12 56648440 56648440 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173595.3 -1 validated p.K205N 1.000 72 1.4% 78 15.4% 4 0% benign(0.146) tolerated(0.18) neutral(0.069) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PRIM1 5557 genome.wustl.edu 37 12 57127994 57127994 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000946.2 -1 reviewed p.V394I 1.000 310 0% 263 27% 7 71.4% benign(0.009) tolerated(0.41) neutral(0.015) NULL RDH16 8608 genome.wustl.edu 37 12 57346751 57346751 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003708.3 -1 validated p.V199A 1.000 212 0% 231 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-bd LRP1 4035 genome.wustl.edu 37 12 57593699 57593699 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002332.2 +1 reviewed p.S3302N 1.000 65 0% 55 41.8% 4 25% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin SRGAP1 57522 genome.wustl.edu 37 12 64491077 64491077 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020762.2 +1 validated p.V579I 1.000 194 0% 166 35.5% 3 33.3% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP GNS 2799 genome.wustl.edu 37 12 65137014 65137014 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002076.3 -1 reviewed p.A233 0.141 239 0% 338 35.2% 62 50% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core CAND1 55832 genome.wustl.edu 37 12 67698914 67698914 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018448.3 +1 validated p.S489I 1.000 211 0% 208 36.1% 31 45.1% possibly_damaging(0.932) deleterious(0.01) deleterious(0.784) superfamily_ARM repeat NUP107 57122 genome.wustl.edu 37 12 69082803 69082803 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020401.2 +1 reviewed p.R24W 0.960 275 0% 363 33.1% 15 46.6% benign(0.011) deleterious(0) neutral(0.445) NULL TBC1D15 64786 genome.wustl.edu 37 12 72311535 72311535 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022771.4 +1 reviewed p.T504A 1.000 199 0% 210 26.7% 44 45.4% benign(0.003) tolerated(0.73) neutral(0.002) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p BBS10 79738 genome.wustl.edu 37 12 76742082 76742082 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024685.3 -1 reviewed p.E19D 1.000 14 0% 32 18.8% 0 - possibly_damaging(0.925) tolerated(0.13) deleterious(0.626) superfamily_GroEL-ATPase NAV3 89795 genome.wustl.edu 37 12 78574813 78574813 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014903.4 +1 validated p.A1872T 0.999 167 0% 164 31.7% 0 - benign(0) tolerated(0.54) neutral(0.007) NULL PTPRQ 374462 genome.wustl.edu 37 12 80899913 80899913 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000266688 +1 known p.I795V 1.000 131 0% 99 28.3% 0 - benign(0.08) tolerated(0.45) neutral(0.018) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 81014089 81014089 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000266688 +1 known p.A1849V 0.952 219 0% 219 34.2% 0 - benign(0.323) tolerated(0.18) neutral(0.157) NULL TMTC3 160418 genome.wustl.edu 37 12 88547188 88547188 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181783.3 +1 reviewed p.S104G 1.000 319 0% 345 31.6% 0 - benign(0.063) tolerated(0.07) neutral(0.323) NULL VEZT 55591 genome.wustl.edu 37 12 95676358 95676358 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017599.3 +1 validated p.E422 1.000 209 0% 203 29.1% 18 38.8% - - - NULL NTN4 59277 genome.wustl.edu 37 12 96077487 96077487 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021229.3 -1 validated p.P394L 0.021 68 0% 90 36.7% 62 53.2% benign(0) tolerated(0.18) neutral(0.056) PatternScan_EGF_LAM_1,superfamily_EGF/Laminin PARPBP 55010 genome.wustl.edu 37 12 102569363 102569363 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017915.2 +1 predicted p.D227E 1.000 387 0% 375 30.9% 1 0% possibly_damaging(0.849) tolerated(0.24) neutral(0.363) superfamily_P-loop containing nucleoside triphosphate hydrolases STAB2 55576 genome.wustl.edu 37 12 104054116 104054116 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017564.9 +1 reviewed p.R581Q 1.000 455 0% 550 28.9% 0 - probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_Fasciclin,HMMSmart_FAS1,superfamily_BIgH3_FAS1 STAB2 55576 genome.wustl.edu 37 12 104142879 104142879 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017564.9 +1 reviewed p.A2128V 0.998 58 0% 84 28.6% 0 - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMSmart_EGF,superfamily_SSF57196 PRDM4 11108 genome.wustl.edu 37 12 108147732 108147732 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012406.3 -1 reviewed p.L100 1.000 297 0% 308 29.5% 5 40% - - - NULL ASCL4 121549 genome.wustl.edu 37 12 108169004 108169004 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_203436.2 +1 validated p.T4 0.000 48 0% 66 18.2% 0 - - - - NULL UNG 7374 genome.wustl.edu 37 12 109540673 109540673 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080911.1 +1 reviewed p.T188I 0.990 265 0% 326 29.4% 31 38.7% benign(0.012) deleterious(0.01) neutral(0.406) HMMPfam_UDG,superfamily_DNA glycosylase IFT81 28981 genome.wustl.edu 37 12 110630487 110630487 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001143779.1 +1 validated p.L511 0.999 181 0% 216 25.9% 10 60% - - - NULL ATP2A2 488 genome.wustl.edu 37 12 110765425 110765425 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_170665.3 +1 reviewed p.G233D 1.000 187 0% 212 37.3% 139 43.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M ACAD10 80724 genome.wustl.edu 37 12 112193520 112193520 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001136538.1 +1 reviewed p.A1035T 1.000 150 0% 173 28.9% 13 61.5% probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like C12orf51 283450 genome.wustl.edu 37 12 112688837 112688837 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000311694 -1 known p.D681G 0.987 376 0% 358 30.2% 0 - - - - NULL C12orf51 283450 genome.wustl.edu 37 12 112708042 112708042 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001109662.2 -1 validated p.V290I 1.000 266 0% 355 34.1% 2 50% possibly_damaging(0.873) - - NULL TPCN1 53373 genome.wustl.edu 37 12 113726109 113726109 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000428632 +1 known p.A592 0.000 34 0% 57 31.6% 1 100% - - - NULL RNFT2 84900 genome.wustl.edu 37 12 117187732 117187732 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001109903.1 +1 validated p.P57Q 0.978 24 0% 25 36% 1 100% benign(0.006) tolerated(0.27) neutral(0.034) NULL FBXW8 26259 genome.wustl.edu 37 12 117465277 117465277 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153348.2 +1 reviewed p.N540 0.671 121 0% 157 28.7% 10 40% - - - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase CABP1 9478 genome.wustl.edu 37 12 121098562 121098562 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001033677.1 +1 reviewed p.F286 1.000 392 0.3% 596 32% 0 - - - - superfamily_EF-hand HNF1A 6927 genome.wustl.edu 37 12 121437163 121437163 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000545.5 +1 reviewed p.A532T 0.974 41 0% 46 37% 9 77.7% benign(0) tolerated(1) - HMMPfam_HNF-1B_C MORN3 283385 genome.wustl.edu 37 12 122097189 122097189 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173855.4 -1 validated p.R71* 0.989 286 0.7% 354 32.5% 0 - - - - HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain SETD1B 23067 genome.wustl.edu 37 12 122255164 122255164 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015048.1 +1 validated p.L981M 0.832 74 0% 64 25% 9 11.1% unknown(0) - - NULL SETD1B 23067 genome.wustl.edu 37 12 122265480 122265480 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015048.1 +1 validated p.R1755H 1.000 44 0% 31 35.5% 19 52.6% unknown(0) - - NULL DNAH10 196385 genome.wustl.edu 37 12 124268496 124268496 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_207437.3 +1 validated p.G273 0.006 252 0% 371 29.1% 0 - - - - HMMPfam_DHC_N1 NCOR2 9612 genome.wustl.edu 37 12 124817804 124817804 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006312.3 -1 validated p.T2216 0.004 61 0% 80 12.5% 70 15.7% - - - NULL NCOR2 9612 genome.wustl.edu 37 12 124819055 124819055 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006312.3 -1 validated p.R2181C 0.944 5 0.000 23 0.435 66 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM132B 114795 genome.wustl.edu 37 12 126138737 126138737 + Silent SNP C C T rs183486128 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052907.2 +1 provisional p.C906 0.266 89 0% 96 18.8% 0 - - - - NULL FZD10 11211 genome.wustl.edu 37 12 130648775 130648775 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007197.2 +1 reviewed p.G430C 1.000 264 0% 360 25% 55 60% unknown(0) - - HMMPfam_Frizzled SFSWAP 6433 genome.wustl.edu 37 12 132283990 132283990 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004592.2 +1 reviewed p.A938V 1.000 74 0% 107 34.6% 44 45.4% unknown(0) deleterious(0) - NULL EP400 57634 genome.wustl.edu 37 12 132446033 132446033 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015409.3 +1 validated p.R290L 0.953 35 0% 38 39.5% 3 100% unknown(0) - - NULL EP400 57634 genome.wustl.edu 37 12 132466816 132466816 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015409.3 +1 validated p.A573 0.000 48 0% 96 35.4% 6 66.6% - - - NULL EP400 57634 genome.wustl.edu 37 12 132530005 132530005 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015409.3 +1 validated p.V2308A 0.871 130 0% 174 31.6% 16 62.5% unknown(0) - - NULL GOLGA3 2802 genome.wustl.edu 37 12 133350795 133350795 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005895.3 -1 reviewed p.A1419T 0.809 86 0% 120 40.8% 12 66.6% benign(0.1) deleterious(0.03) neutral(0.372) NULL ZNF140 7699 genome.wustl.edu 37 12 133682648 133682648 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003440.2 +1 validated p.R262Q 0.968 84 0% 91 31.9% 16 62.5% possibly_damaging(0.454) tolerated(1) neutral(0.148) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF268 10795 genome.wustl.edu 37 12 133779658 133779658 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003415.2 +1 validated p.H462 0.830 216 0% 178 31.5% 12 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZMYM2 7750 genome.wustl.edu 37 13 20605500 20605500 + Silent SNP G G A rs183448364 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003453.2 +1 validated p.A631 0.520 346 0% 366 31.4% 12 33.3% - - - HMMPfam_zf-FCS EFHA1 221154 genome.wustl.edu 37 13 22084232 22084232 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152726.2 -1 validated p.I224M 0.302 158 0% 113 30.1% 33 36.3% benign(0.003) tolerated(0.23) neutral(0.042) superfamily_SSF47473 TNFRSF19 55504 genome.wustl.edu 37 13 24234545 24234545 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018647.2 +1 reviewed p.L218 1.000 94 0% 128 31.2% 3 0% - - - NULL ATP12A 479 genome.wustl.edu 37 13 25281302 25281302 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001676.5 +1 reviewed p.A771T 1.000 229 0.4% 234 37.2% 0 - possibly_damaging(0.769) deleterious(0) deleterious(0.730) superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M CENPJ 55835 genome.wustl.edu 37 13 25466935 25466935 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018451.3 -1 reviewed p.H1021R 0.994 583 0% 656 29.3% 6 50% possibly_damaging(0.455) tolerated(0.38) neutral(0.166) NULL ATP8A2 51761 genome.wustl.edu 37 13 26133118 26133118 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016529.4 +1 validated p.Y424F 1.000 403 0% 430 33% 0 - benign(0.353) tolerated(0.08) neutral(0.411) superfamily_HAD-like PAN3 255967 genome.wustl.edu 37 13 28854577 28854577 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_175854.7 +1 validated p.R540* 1.000 193 0% 237 30% 6 33.3% - - - superfamily_Kinase_like SLC7A1 6541 genome.wustl.edu 37 13 30091818 30091818 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003045.4 -1 validated p.F468L 1.000 396 0% 404 39.9% 18 50% benign(0.055) tolerated(0.81) neutral(0.004) NULL FRY 10129 genome.wustl.edu 37 13 32783024 32783024 + Missense_Mutation SNP C C T rs187526864 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000261575 +1 known p.R156W 0.766 74 1.4% 108 33.3% 0 - benign(0.126) deleterious(0.02) neutral(0.394) NULL FRY 10129 genome.wustl.edu 37 13 32811625 32811625 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_023037.2 +1 validated p.E1974K 1.000 114 0% 170 28.8% 0 - benign(0.051) tolerated(0.5) neutral(0.013) NULL FRY 10129 genome.wustl.edu 37 13 32811950 32811950 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_023037.2 +1 validated p.R2082Q 1.000 80 0% 56 25% 1 0% probably_damaging(0.973) deleterious(0.03) deleterious(0.779) NULL NBEA 26960 genome.wustl.edu 37 13 36229811 36229811 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015678.4 +1 validated p.G2742R 1.000 276 0% 316 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 POSTN 10631 genome.wustl.edu 37 13 38158993 38158993 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006475.2 -1 validated p.T323M 1.000 500 0% 523 30% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain PROSER1 80209 genome.wustl.edu 37 13 39602404 39602404 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025138.3 -1 validated p.N110S 0.996 366 0% 310 36.1% 3 0% benign(0.133) deleterious(0.04) neutral(0.360) NULL ELF1 1997 genome.wustl.edu 37 13 41517096 41517096 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_172373.3 -1 reviewed p.R266 1.000 219 0% 221 31.2% 26 57.6% - - - HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785 KIAA0564 23078 genome.wustl.edu 37 13 42393434 42393434 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015058.1 -1 validated p.P597S 1.000 181 0% 150 38% 4 50% benign(0.097) tolerated(0.46) neutral(0.019) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000170919 0 genome.wustl.edu 37 13 45964995 45964995 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000379050 +1 known p.G58 0.999 261 0.4% 279 29% 58 0% - - - NULL FAM194B 220081 genome.wustl.edu 37 13 46170846 46170846 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182542.2 -1 predicted p.E99K 0.177 1122 0% 1255 31.3% 0 - unknown(0) tolerated(0.72) - NULL SIAH3 283514 genome.wustl.edu 37 13 46358020 46358020 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198849.2 -1 validated p.T103M 0.741 55 0% 97 16.5% 0 - benign(0.004) deleterious(0.02) neutral(0.383) superfamily_Traf_like LCP1 3936 genome.wustl.edu 37 13 46730636 46730636 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002298.4 -1 reviewed p.V143A 1.000 601 0% 741 31.2% 15 0% benign(0.13) tolerated(0.13) neutral(0.264) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology,superfamily_SSF47473 SETDB2 83852 genome.wustl.edu 37 13 50062517 50062517 + Silent SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031915.2 +1 validated p.T568 0.020 130 0% 124 29% 2 50% - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain SERPINE3 647174 genome.wustl.edu 37 13 51921353 51921353 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001101320.1 +1 validated p.T228M 0.254 215 0% 289 27% 0 - benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins THSD1 55901 genome.wustl.edu 37 13 52951753 52951753 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018676.3 -1 reviewed p.Y784 0.889 288 0% 307 25.4% 3 33.3% - - - NULL LOC341689 341689 genome.wustl.edu 37 13 59103253 59103253 + RNA SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XR_017487.3 +1 model NULL 0.489 249 0% 280 29.6% 0 - - - - - DIAPH3 81624 genome.wustl.edu 37 13 60348930 60348930 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001042517.1 -1 validated p.N1064I 1.000 192 0% 201 31.3% 12 33.3% benign(0.004) deleterious(0) neutral(0.445) HMMSmart_SM00498,HMMPfam_Drf_DAD TDRD3 81550 genome.wustl.edu 37 13 61109311 61109311 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030794.2 +1 validated p.G595R 1.000 342 0% 312 30.8% 20 20% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00333,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT LOC390407 390407 genome.wustl.edu 37 13 61211971 61211971 + RNA SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XR_078475.1 -1 model NULL 0.996 62 0% 83 26.5% 0 - - - - - KLHL1 57626 genome.wustl.edu 37 13 70275877 70275877 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020866.2 -1 validated p.I735T 1.000 106 0% 101 35.6% 0 - benign(0) tolerated(0.59) neutral(0.004) HMMSmart_SM00612,superfamily_Galactose oxidase central domain LMO7 4008 genome.wustl.edu 37 13 76391343 76391343 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015842.2 +1 reviewed p.R432C 1.000 385 0% 445 36.4% 27 48.1% possibly_damaging(0.806) deleterious(0.03) deleterious(0.668) NULL LMO7 4008 genome.wustl.edu 37 13 76415900 76415900 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015842.2 +1 reviewed p.R1038K 0.000 143 0% 188 33% 37 48.6% benign(0.156) tolerated(0.88) neutral(0.014) NULL CLN5 1203 genome.wustl.edu 37 13 77574739 77574739 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006493.2 +1 reviewed p.T287A 1.000 325 0% 335 28.1% 13 23% probably_damaging(0.998) tolerated(0.33) deleterious(0.498) NULL MYCBP2 23077 genome.wustl.edu 37 13 77752058 77752058 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015057.4 -1 validated p.K1684R 1.000 238 0% 229 30.6% 3 33.3% possibly_damaging(0.942) tolerated(0.49) neutral(0.398) NULL SPRY2 10253 genome.wustl.edu 37 13 80911200 80911200 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005842.2 -1 reviewed p.D214G 1.000 222 0% 287 33.4% 53 49% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Sprouty EFNB2 1948 genome.wustl.edu 37 13 107145465 107145465 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004093.2 -1 reviewed p.G309S 1.000 114 0% 173 36.4% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARGLU1 55082 genome.wustl.edu 37 13 107211766 107211766 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000426600 -1 known p.R146H 1.000 247 0% 235 29.4% 11 36.3% possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL MYO16 23026 genome.wustl.edu 37 13 109707840 109707840 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015011.1 +1 validated p.F1056L 1.000 381 0% 294 30.3% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases COL4A2 1284 genome.wustl.edu 37 13 111117886 111117886 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001846.2 +1 reviewed p.D637 0.037 58 0% 50 34% 71 29.5% - - - HMMPfam_Collagen ARHGEF7 8874 genome.wustl.edu 37 13 111935593 111935593 + Silent SNP G G A rs61758711 TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001113511.1 +1 reviewed p.P632 0.564 83 0% 113 38.1% 12 50% - - - NULL ATP11A 23250 genome.wustl.edu 37 13 113470479 113470479 + Missense_Mutation SNP C C T rs189256530 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032189.3 +1 reviewed p.T175M 1.000 100 0% 164 32.9% 15 46.6% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M TFDP1 7027 genome.wustl.edu 37 13 114290379 114290379 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007111.4 +1 reviewed p.L259 1.000 181 0% 247 31.2% 87 44.8% - - - HMMPfam_DP OR4M1 441670 genome.wustl.edu 37 14 20249136 20249136 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005500.1 +1 provisional p.A219T 0.026 973 0% 1107 14.5% 0 - benign(0.086) tolerated(0.61) neutral(0.010) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4M1 441670 genome.wustl.edu 37 14 20249319 20249319 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005500.1 +1 provisional p.I280V 0.900 609 0% 672 18.6% 0 - benign(0.142) tolerated(0.29) neutral(0.041) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4L1 122742 genome.wustl.edu 37 14 20529054 20529054 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001004717.1 +1 provisional p.P284L 0.996 164 0% 100 44% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 TEP1 7011 genome.wustl.edu 37 14 20841478 20841478 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007110.4 -1 reviewed p.T2255 0.001 124 0% 158 29.1% 8 50% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 OSGEP 55644 genome.wustl.edu 37 14 20915618 20915618 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017807.2 -1 validated p.H311Y 1.000 211 0% 228 32.5% 53 41.5% benign(0) tolerated(0.82) neutral(0.001) NULL OR6S1 341799 genome.wustl.edu 37 14 21109531 21109531 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001001968.1 -1 provisional p.F107S 0.997 128 0% 188 30.9% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_7tm_1,superfamily_SSF81321 RNASE4 6038 genome.wustl.edu 37 14 21167780 21167780 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002937.3 +1 reviewed p.I84V 0.980 152 0% 178 32% 2 0% possibly_damaging(0.94) tolerated(1) neutral(0.385) HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like SUPT16H 11198 genome.wustl.edu 37 14 21836520 21836520 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007192.3 -1 reviewed p.R288H 1.000 248 0% 257 32.3% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core SALL2 6297 genome.wustl.edu 37 14 21992021 21992021 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005407.1 -1 validated p.A614V 0.999 42 0% 55 27.3% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL TRAC 28755 genome.wustl.edu 37 14 22997531 22997531 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000446346 +1 known p.V120A 0.026 443 0% 496 31.5% 6 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MYH6 4624 genome.wustl.edu 37 14 23854219 23854219 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002471.3 -1 validated p.M1732K 1.000 296 0% 296 28.7% 0 - benign(0.01) deleterious(0.02) neutral(0.384) HMMPfam_Myosin_tail_1 MYH7 4625 genome.wustl.edu 37 14 23884884 23884884 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000257.2 -1 reviewed p.Q1704R 1.000 112 0% 124 32.3% 3 66.6% possibly_damaging(0.921) tolerated(0.19) neutral(0.420) HMMPfam_Myosin_tail_1 PCK2 5106 genome.wustl.edu 37 14 24569206 24569206 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004563.2 +1 reviewed p.R340* 0.999 112 0% 85 34.1% 30 3.3% - - - HMMPfam_PEPCK,superfamily_PEP carboxykinase-like DCAF11 80344 genome.wustl.edu 37 14 24587663 24587663 + Missense_Mutation SNP G G A rs192332230 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025230.4 +1 reviewed p.R215H 1.000 195 0% 202 29.7% 47 51% possibly_damaging(0.922) deleterious(0.02) deleterious(0.754) HMMSmart_SM00320,superfamily_WD40 repeat-like ADCY4 196883 genome.wustl.edu 37 14 24792659 24792659 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139247.2 -1 reviewed p.F683Y 1.000 144 0% 229 24.9% 2 0% benign(0.15) tolerated(0.05) neutral(0.358) NULL NFATC4 4776 genome.wustl.edu 37 14 24846074 24846074 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001136022.1 +1 reviewed p.T940 0.997 75 0% 96 30.2% 14 21.4% - - - NULL NYNRIN 57523 genome.wustl.edu 37 14 24884877 24884877 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025081.2 +1 validated p.V1308I 0.794 152 0% 184 37% 17 64.7% benign(0.004) tolerated(1) - superfamily_Ribonuclease H-like ENSG00000197358 0 genome.wustl.edu 37 14 28734064 28734064 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000355069 +1 known p.R102K 0.988 478 0% 610 29.5% 0 - - - - HMMPfam_BNIP3 SCFD1 23256 genome.wustl.edu 37 14 31107345 31107345 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016106.2 +1 validated p.Q109 1.000 134 0% 118 37.3% 7 28.5% - - - HMMPfam_Sec1,superfamily_Sec1-like HECTD1 25831 genome.wustl.edu 37 14 31619420 31619420 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015382.2 -1 validated p.E647G 1.000 375 0% 412 32.5% 10 30% possibly_damaging(0.799) deleterious(0.02) deleterious(0.684) superfamily_ARM repeat ARHGAP5 394 genome.wustl.edu 37 14 32623887 32623887 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001030055.1 +1 reviewed p.W1414* 1.000 394 0% 310 25.2% 24 66.6% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP PRPF39 55015 genome.wustl.edu 37 14 45571879 45571879 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017922.3 +1 validated p.L239 0.816 322 0% 322 22.4% 10 10% - - - HMMSmart_SM00386,superfamily_TPR-like C14orf183 196913 genome.wustl.edu 37 14 50551880 50551880 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001014830.1 -1 provisional p.S195F 0.007 227 0% 284 33.5% 0 - unknown(0) - - NULL MAP4K5 11183 genome.wustl.edu 37 14 50929418 50929418 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006575.3 -1 reviewed p.A301T 0.998 569 0% 537 28.5% 15 26.6% benign(0) tolerated(0.39) neutral(0.016) superfamily_Protein kinase-like (PK-like) PSMC6 5706 genome.wustl.edu 37 14 53185020 53185020 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002806.3 +1 reviewed p.A236D 1.000 468 0% 558 34.1% 68 47% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases MUDENG 55745 genome.wustl.edu 37 14 57741283 57741283 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018229.3 +1 validated p.F132 0.859 190 0% 163 37.4% 5 60% - - - NULL ACTR10 55860 genome.wustl.edu 37 14 58698893 58698893 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018477.2 +1 validated p.V327A 1.000 206 0% 251 38.6% 45 53.3% possibly_damaging(0.783) tolerated(0.26) neutral(0.327) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 DHRS7 51635 genome.wustl.edu 37 14 60616122 60616122 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016029.2 -1 validated p.W307* 0.994 341 0% 393 30.5% 24 16.6% - - - superfamily_NAD(P)-binding Rossmann-fold domains KCNH5 27133 genome.wustl.edu 37 14 63174832 63174832 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139318.3 -1 reviewed p.N787 0.957 286 0.3% 326 36.8% 0 - - - - NULL KCNH5 27133 genome.wustl.edu 37 14 63316554 63316554 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139318.3 -1 reviewed p.T462 1.000 318 0% 317 37.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SYNE2 23224 genome.wustl.edu 37 14 64519763 64519763 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182914.2 +1 reviewed p.E3044 0.020 68 0% 49 36.7% 1 0% - - - NULL MTHFD1 4522 genome.wustl.edu 37 14 64909120 64909120 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005956.3 +1 reviewed p.T712 1.000 109 0% 103 28.2% 77 32.4% - - - HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases HSPA2 3306 genome.wustl.edu 37 14 65007630 65007630 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021979.3 +1 validated p.V21 0.991 68 0% 114 39.5% 0 - - - - HMMPfam_HSP70,superfamily_SSF53067 LOC100287214 100287214 genome.wustl.edu 37 14 65008347 65008347 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002343281.1 -1 model p.L283F 1.000 24 0% 21 28.6% 0 - - - - HMMPfam_NAD-GH HSPA2 3306 genome.wustl.edu 37 14 65008693 65008693 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021979.3 +1 validated p.A376T 1.000 33 0% 30 36.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,superfamily_SSF53067 PLEKHG3 26030 genome.wustl.edu 37 14 65205515 65205515 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015549.1 +1 validated p.R431Q 0.559 108 0% 96 36.5% 18 27.7% benign(0.029) tolerated(0.06) neutral(0.324) NULL MAGOH3P 90352 genome.wustl.edu 37 14 69328484 69328484 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000398874 +1 known p.V2 0.378 133 0% 116 37.9% 0 - - - - NULL ACTN1 87 genome.wustl.edu 37 14 69349236 69349236 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001130004.1 -1 reviewed p.L631P 1.000 71 0% 101 23.8% 151 56.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Spectrin,superfamily_Spectrin SLC39A9 55334 genome.wustl.edu 37 14 69908877 69908877 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018375.3 +1 validated p.H99 0.990 489 0.2% 599 35.6% 14 42.8% - - - HMMPfam_Zip SLC10A1 6554 genome.wustl.edu 37 14 70246040 70246040 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003049.3 -1 validated p.V202D 0.013 140 0% 227 36.6% 0 - possibly_damaging(0.691) deleterious(0.01) deleterious(0.653) HMMPfam_SBF VRTN 55237 genome.wustl.edu 37 14 74823592 74823592 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018228.2 +1 validated p.Q36* 0.995 107 0% 125 31.2% 0 - - - - NULL LTBP2 4053 genome.wustl.edu 37 14 74995782 74995782 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000428.2 -1 reviewed p.S677 0.000 22 0% 50 42% 3 100% - - - superfamily_TB module/8-cys domain KIAA0317 9870 genome.wustl.edu 37 14 75130721 75130721 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001039479.1 -1 validated p.R750 1.000 167 0% 246 32.5% 21 42.8% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain MLH3 27030 genome.wustl.edu 37 14 75515443 75515443 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001040108.1 -1 reviewed p.Y306H 1.000 218 0% 246 36.6% 1 100% unknown(0) deleterious(0.01) - superfamily_Ribosomal protein S5 domain 2-like KCNK10 54207 genome.wustl.edu 37 14 88729846 88729846 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138317.2 -1 reviewed p.N34 1.000 34 0% 30 26.7% 0 - - - - NULL FOXN3 1112 genome.wustl.edu 37 14 89628892 89628892 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001085471.1 -1 reviewed p.E447K 1.000 320 0% 401 35.7% 4 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TDP1 55775 genome.wustl.edu 37 14 90455264 90455264 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001008744.1 +1 reviewed p.A383T 0.000 260 0% 293 30.7% 17 41.1% benign(0) tolerated(0.41) neutral(0.015) HMMPfam_Tyr-DNA_phospho,superfamily_SSF56024 C14orf102 55051 genome.wustl.edu 37 14 90744726 90744726 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017970.2 -1 validated p.R1150Q 1.000 36 0% 43 34.9% 3 66.6% unknown(0) deleterious(0) - NULL TTC7B 145567 genome.wustl.edu 37 14 91059868 91059868 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001010854.1 -1 provisional p.H690R 1.000 60 0% 96 36.5% 11 63.6% benign(0.097) tolerated(0.89) neutral(0.007) superfamily_TPR-like TTC7B 145567 genome.wustl.edu 37 14 91211165 91211165 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001010854.1 -1 provisional p.A183T 0.997 236 0.4% 230 20.9% 5 20% benign(0.171) tolerated(0.37) neutral(0.035) superfamily_TPR-like GPR68 8111 genome.wustl.edu 37 14 91700997 91700997 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003485.3 -1 validated p.R143Q 1.000 56 0% 62 29% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 CCDC88C 440193 genome.wustl.edu 37 14 91739859 91739859 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080414.2 -1 validated p.V1733I 0.430 59 0% 97 22.7% 27 40.7% benign(0.003) tolerated(0.48) neutral(0.011) NULL CCDC88C 440193 genome.wustl.edu 37 14 91780390 91780390 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080414.2 -1 validated p.K590 0.944 338 0% 379 24.5% 11 54.5% - - - NULL FBLN5 10516 genome.wustl.edu 37 14 92349335 92349335 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006329.3 -1 reviewed p.P275 0.982 187 0% 232 28% 4 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin GOLGA5 9950 genome.wustl.edu 37 14 93282615 93282615 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005113.2 +1 reviewed p.N447S 0.979 94 0% 103 30.1% 24 33.3% benign(0.04) tolerated(0.41) neutral(0.017) superfamily_Prefoldin,HMMPfam_Golgin_A5 DDX24 57062 genome.wustl.edu 37 14 94527382 94527382 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020414.3 -1 reviewed p.M425T 1.000 234 0% 159 31.4% 61 47.5% benign(0.429) deleterious(0) deleterious(0.584) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 BCL11B 64919 genome.wustl.edu 37 14 99640590 99640590 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138576.2 -1 reviewed p.M861I 1.000 112 0% 142 33.8% 1 0% benign(0.278) deleterious(0) deleterious(0.475) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HHIPL1 84439 genome.wustl.edu 37 14 100118931 100118931 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001127258.1 +1 validated p.F209S 1.000 40 0% 43 23.3% 0 - possibly_damaging(0.879) deleterious(0.03) deleterious(0.707) superfamily_Soluble quinoprotein glucose dehydrogenase CYP46A1 10858 genome.wustl.edu 37 14 100182183 100182183 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006668.1 +1 reviewed p.R244W 0.677 50 0% 52 26.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_p450,superfamily_Cytochrome_P450 EVL 51466 genome.wustl.edu 37 14 100602267 100602267 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016337.2 +1 validated p.P309L 0.604 81 0% 105 43.8% 65 44.6% benign(0.167) deleterious(0.03) neutral(0.380) NULL DEGS2 123099 genome.wustl.edu 37 14 100616017 100616017 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_206918.2 -1 reviewed p.R38Q 1.000 14 0% 28 46.4% 3 33.3% benign(0.288) deleterious(0) deleterious(0.533) HMMPfam_Lipid_DES WDR25 79446 genome.wustl.edu 37 14 100934379 100934379 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024515.4 +1 validated p.G282R 0.959 123 0% 115 37.4% 17 52.9% possibly_damaging(0.676) tolerated(0.62) neutral(0.244) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TECPR2 9895 genome.wustl.edu 37 14 102901460 102901460 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014844.3 +1 validated p.T769M 0.815 29 0% 31 16.1% 2 0% possibly_damaging(0.933) deleterious(0.01) deleterious(0.784) NULL TDRD9 122402 genome.wustl.edu 37 14 104471611 104471611 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153046.2 +1 validated p.R528C 0.999 189 0% 220 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases SIVA1 10572 genome.wustl.edu 37 14 105223024 105223024 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006427.3 +1 reviewed p.A133T 0.945 177 0% 216 38% 356 48.5% probably_damaging(0.959) tolerated(0.39) neutral(0.419) PatternScan_2FE2S_FER_1,HMMPfam_Siva KIAA0284 283638 genome.wustl.edu 37 14 105349571 105349571 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001112726.1 +1 validated p.A259 0.178 55 0% 62 35.5% 30 43.3% - - - NULL NUDT14 256281 genome.wustl.edu 37 14 105639490 105639490 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_177533.3 -1 validated p.I179 0.996 66 0% 92 23.9% 137 51% - - - HMMPfam_NUDIX,superfamily_NUDIX_hydrolase IGHV3-53 28420 genome.wustl.edu 37 14 107049088 107049088 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000390627 -1 known p.V11 0.000 566 0% 782 25.3% 37 0% - - - NULL NIPA2 81614 genome.wustl.edu 37 15 23012434 23012434 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001008860.2 -1 reviewed p.I98T 1.000 173 0% 182 34.1% 48 54.1% benign(0.366) deleterious(0.01) deleterious(0.522) HMMPfam_DUF803,superfamily_Multidrug resistance efflux transporter EmrE ATP10A 57194 genome.wustl.edu 37 15 25947103 25947103 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024490.3 -1 reviewed p.D907G 1.000 225 0% 370 33.5% 2 0% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) superfamily_SSF56784 HERC2 8924 genome.wustl.edu 37 15 28414696 28414696 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004667.4 -1 reviewed p.D3388V 1.000 227 0% 270 28.5% 10 50% benign(0.033) deleterious(0.01) neutral(0.407) NULL HERC2 8924 genome.wustl.edu 37 15 28437149 28437149 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004667.4 -1 reviewed p.D2803 0.776 63 0% 109 39.4% 1 100% - - - superfamily_Galactose-binding domain-like HERC2 8924 genome.wustl.edu 37 15 28508242 28508242 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004667.4 -1 reviewed p.P648 0.989 510 0% 648 28.1% 2 50% - - - HMMPfam_RCC1,HMMSmart_SM00706,superfamily_RCC1/BLIP-II MTMR10 54893 genome.wustl.edu 37 15 31267176 31267176 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017762.2 -1 validated p.E97K 0.999 285 0% 234 38% 4 75% probably_damaging(0.974) tolerated(0.12) deleterious(0.676) superfamily_PH domain-like TRPM1 4308 genome.wustl.edu 37 15 31352801 31352801 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002420.4 -1 reviewed p.W381* 1.000 117 0% 129 33.3% 0 - - - - NULL CHRM5 1133 genome.wustl.edu 37 15 34355478 34355478 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012125.3 +1 validated p.F187S 1.000 203 0% 262 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 AQR 9716 genome.wustl.edu 37 15 35202473 35202473 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014691.2 -1 validated p.R509Q 0.997 142 0% 159 37.7% 9 44.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SPTBN5 51332 genome.wustl.edu 37 15 42162755 42162755 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016642.2 -1 validated p.T1782 0.000 77 0% 79 39.2% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PLA2G4E 123745 genome.wustl.edu 37 15 42278134 42278134 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080490.1 -1 provisional p.A673V 0.633 198 0% 316 36.1% 2 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like GANC 2595 genome.wustl.edu 37 15 42603004 42603004 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198141.2 +1 reviewed p.P339 0.998 301 0% 318 18.2% 2 50% - - - HMMPfam_Glyco_hydro_31 STARD9 57519 genome.wustl.edu 37 15 42976871 42976871 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_001129482.3 +1 model p.Y984C 0.053 147 0% 208 26.4% 0 - benign(0.313) - - NULL UBR1 197131 genome.wustl.edu 37 15 43294867 43294867 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_174916.2 -1 reviewed p.R1182H 1.000 172 0% 188 31.9% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZSCAN29 146050 genome.wustl.edu 37 15 43658311 43658311 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152455.3 -1 validated p.G407C 1.000 84 0% 93 29% 3 0% possibly_damaging(0.655) deleterious(0.01) deleterious(0.636) NULL TP53BP1 7158 genome.wustl.edu 37 15 43749045 43749045 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001141980.1 -1 validated p.N587 0.992 343 0% 418 34% 7 57.1% - - - NULL SPG11 80208 genome.wustl.edu 37 15 44921007 44921007 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025137.3 -1 reviewed p.L643 1.000 587 0% 670 32.7% 9 33.3% - - - NULL DUOX1 53905 genome.wustl.edu 37 15 45427399 45427399 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017434.3 +1 reviewed p.D135 1.000 37 0% 46 28.3% 2 100% - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases DUOX1 53905 genome.wustl.edu 37 15 45444212 45444212 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017434.3 +1 reviewed p.Y1052C 1.000 66 0% 63 31.7% 1 0% possibly_damaging(0.92) tolerated(0.11) deleterious(0.643) NULL AP4E1 23431 genome.wustl.edu 37 15 51242331 51242331 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007347.3 +1 validated p.F505L 0.045 393 0% 351 33% 2 50% benign(0) tolerated(0.64) neutral(0.003) HMMPfam_Adaptin_N,superfamily_ARM-type_fold DMXL2 23312 genome.wustl.edu 37 15 51772990 51772990 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015263.3 -1 validated p.V2105I 0.330 210 0% 215 31.2% 2 0% unknown(0) tolerated(0.46) - superfamily_WD40 repeat-like ONECUT1 3175 genome.wustl.edu 37 15 53049804 53049804 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004498.1 -1 provisional p.S449N 1.000 330 0% 309 34.6% 0 - benign(0) tolerated(0.21) neutral(0.044) superfamily_Homeodomain-like WDR72 256764 genome.wustl.edu 37 15 53997362 53997362 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182758.2 -1 validated p.I391F 0.064 283 0.4% 244 27.9% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00320 RFX7 64864 genome.wustl.edu 37 15 56385858 56385858 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022841.5 -1 validated p.G1356 0.943 329 0% 279 31.9% 3 33.3% - - - NULL RORA 6095 genome.wustl.edu 37 15 60803596 60803596 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_134260.2 -1 reviewed p.A250T 0.996 248 0% 301 34.6% 0 - benign(0) tolerated(0.68) neutral(0.002) NULL HERC1 8925 genome.wustl.edu 37 15 63964812 63964812 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003922.3 -1 reviewed p.T2643M 1.000 297 0% 346 29.2% 5 40% possibly_damaging(0.855) - - NULL ZWILCH 55055 genome.wustl.edu 37 15 66801172 66801172 + RNA SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NR_003105.1 +1 validated NULL 0.317 320 0% 425 29.9% 0 - - - - - ZWILCH 55055 genome.wustl.edu 37 15 66840999 66840999 + RNA SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NR_003105.1 +1 validated NULL 0.000 67 0% 72 27.8% 17 52.9% - - - - LCTL 197021 genome.wustl.edu 37 15 66856305 66856305 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_207338.2 -1 validated p.V105A 0.942 209 0.5% 247 30.4% 0 - benign(0.428) tolerated(0.11) neutral(0.411) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat CORO2B 10391 genome.wustl.edu 37 15 68937618 68937618 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000261861 +1 known p.F45L 1.000 70 0% 104 38.5% 0 - benign(0.416) tolerated(0.06) neutral(0.457) superfamily_WD40 repeat-like,HMMPfam_DUF1899 MYO9A 4649 genome.wustl.edu 37 15 72170529 72170529 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006901.2 -1 validated p.L1928P 0.997 157 0% 129 33.3% 3 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL PARP6 56965 genome.wustl.edu 37 15 72559138 72559138 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020214.2 -1 provisional p.D10G 1.000 393 0% 426 23.5% 20 60% possibly_damaging(0.909) deleterious(0.01) deleterious(0.768) NULL CELF6 60677 genome.wustl.edu 37 15 72581221 72581221 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052840.4 -1 reviewed p.H361Y 1.000 23 0% 28 32.1% 0 - possibly_damaging(0.767) tolerated(0.06) deleterious(0.607) superfamily_RNA-binding domain RBD NEO1 4756 genome.wustl.edu 37 15 73562475 73562475 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002499.3 +1 validated p.T873 0.007 185 0.5% 144 32.6% 21 57.1% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HCN4 10021 genome.wustl.edu 37 15 73615569 73615569 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005477.2 -1 reviewed p.P955 0.000 13 0% 16 37.5% 0 - - - - NULL LMAN1L 79748 genome.wustl.edu 37 15 75113443 75113443 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021819.2 +1 validated p.T312M 0.001 68 0% 85 27.1% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL LMAN1L 79748 genome.wustl.edu 37 15 75115980 75115980 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021819.2 +1 validated p.D427G 0.576 69 0% 131 21.4% 0 - benign(0.05) tolerated(0.25) neutral(0.040) NULL ULK3 25989 genome.wustl.edu 37 15 75133825 75133825 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001099436.1 -1 validated p.E130 0.988 287 0% 382 29.3% 34 61.7% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase COMMD4 54939 genome.wustl.edu 37 15 75631381 75631381 + Silent SNP G G A rs139615169 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017828.3 +1 validated p.A79 0.833 96 0% 112 36.6% 145 35.8% - - - HMMPfam_HCaRG SIN3A 25942 genome.wustl.edu 37 15 75682066 75682066 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145357.1 -1 reviewed p.L983P 1.000 290 0% 340 33.5% 50 62% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SIN3A 25942 genome.wustl.edu 37 15 75694266 75694266 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145357.1 -1 reviewed p.R485C 1.000 235 0% 256 30.9% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAH,superfamily_PAH ADAMTSL3 57188 genome.wustl.edu 37 15 84553880 84553880 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_207517.2 +1 validated p.V330M 0.973 314 0% 415 33.7% 0 - benign(0.005) tolerated(0.08) neutral(0.300) NULL ALPK3 57538 genome.wustl.edu 37 15 85384034 85384034 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020778.4 +1 validated p.C710 0.000 79 0% 90 32.2% 3 66.6% - - - NULL AKAP13 11214 genome.wustl.edu 37 15 86286988 86286988 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006738.4 +1 reviewed p.G2779E 0.914 70 0% 79 35.4% 27 40.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C15orf42 90381 genome.wustl.edu 37 15 90138672 90138672 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152259.3 +1 validated p.R577H 1.000 256 0% 340 29.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIF7 374654 genome.wustl.edu 37 15 90191962 90191962 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198525.2 -1 validated p.I323F 1.000 25 0% 75 42.7% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 IQGAP1 8826 genome.wustl.edu 37 15 91009572 91009572 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003870.3 +1 reviewed p.R647C 1.000 214 0% 336 30.7% 33 39.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases ADAMTS17 170691 genome.wustl.edu 37 15 100801717 100801717 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139057.2 -1 reviewed p.P333Q 0.015 155 0% 176 28.4% 2 50% benign(0.001) deleterious(0.04) neutral(0.349) "superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS17 170691 genome.wustl.edu 37 15 100801760 100801760 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139057.2 -1 reviewed p.R319* 0.034 166 0.6% 172 29.1% 1 0% - - - "superfamily_Metalloproteases (""zincins"") catalytic domain" PCSK6 5046 genome.wustl.edu 37 15 101872180 101872180 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000331826 -1 known p.T638S 0.813 128 0% 178 29.8% 2 100% benign(0.002) tolerated(1) - NULL SOLH 6650 genome.wustl.edu 37 16 603375 603375 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005632.2 +1 reviewed p.N1040 0.977 41 0% 45 33.3% 108 56.4% - - - NULL RHOT2 89941 genome.wustl.edu 37 16 720752 720752 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138769.1 +1 provisional p.D206 0.950 52 0% 55 25.5% 39 43.5% - - - superfamily_EF-hand WDR24 84219 genome.wustl.edu 37 16 737174 737174 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032259.2 -1 provisional p.T301M 0.993 51 0% 68 33.8% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like RPUSD1 113000 genome.wustl.edu 37 16 837452 837452 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_058192.2 -1 validated p.T70A 1.000 35 0% 28 17.9% 43 37.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PseudoU_synth_2,superfamily_PsdUridine_synth_cat_dom BAIAP3 8938 genome.wustl.edu 37 16 1394285 1394285 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000440627 +1 known p.G164R 0.039 130 0% 165 40.6% 10 50% unknown(0) tolerated(0.71) - NULL CLCN7 1186 genome.wustl.edu 37 16 1507326 1507326 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001287.4 -1 reviewed p.I251L 1.000 129 0% 154 31.8% 54 50% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_Voltage_CLC,superfamily_Cl-channel_core TSC2 7249 genome.wustl.edu 37 16 2133796 2133796 + Silent SNP G G A rs137854255 TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000548.3 +1 reviewed p.R1328 0.097 72 0% 100 31% 38 57.8% - - - NULL PKD1 5310 genome.wustl.edu 37 16 2154628 2154628 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001009944.2 -1 reviewed p.L2678F 0.997 20 0% 42 14.3% 9 22.2% benign(0.08) tolerated(0.29) neutral(0.035) HMMPfam_REJ CEMP1 752014 genome.wustl.edu 37 16 2580562 2580562 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001048212.2 -1 validated p.S171R 0.000 224 0% 258 27.1% 11 54.5% unknown(0) - - NULL KCTD5 54442 genome.wustl.edu 37 16 2752376 2752376 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018992.3 +1 validated p.Y191C 1.000 102 0% 131 37.4% 46 45.6% possibly_damaging(0.721) deleterious(0) deleterious(0.706) NULL PRSS22 64063 genome.wustl.edu 37 16 2905693 2905693 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022119.3 -1 reviewed p.L147 0.000 85 0% 174 37.9% 138 52.8% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ZNF205 7755 genome.wustl.edu 37 16 3169603 3169603 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001042428.1 +1 validated p.G314 0.792 36 0% 30 43.3% 41 48.7% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF213 7760 genome.wustl.edu 37 16 3187441 3187441 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001134655.1 +1 validated p.G54R 0.000 35 0% 34 14.7% 5 20% benign(0) tolerated(0.31) neutral(0.027) HMMPfam_SCAN,HMMSmart_SM00431 ZNF213 7760 genome.wustl.edu 37 16 3190866 3190866 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001134655.1 +1 validated p.R300W 0.966 12 0% 10 50% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OR1F1 4992 genome.wustl.edu 37 16 3255121 3255121 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012360.1 +1 provisional p.L292P 1.000 95 0% 83 27.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF81321 SLX4 84464 genome.wustl.edu 37 16 3639605 3639605 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032444.2 -1 provisional p.R1345H 0.000 225 0% 333 31.8% 5 40% possibly_damaging(0.865) tolerated(0.5) neutral(0.345) NULL CREBBP 1387 genome.wustl.edu 37 16 3779350 3779350 + Missense_Mutation SNP G G C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004380.2 -1 reviewed p.P1900A 1.000 81 0% 192 36.5% 16 43.7% probably_damaging(0.981) tolerated(0.19) deleterious(0.475) NULL CREBBP 1387 genome.wustl.edu 37 16 3817857 3817857 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004380.2 -1 reviewed p.I1038M 0.000 794 0% 1142 32.3% 8 62.5% unknown(0) tolerated(0.14) - NULL ADCY9 115 genome.wustl.edu 37 16 4164453 4164453 + Nonsense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001116.2 -1 reviewed p.E331* 1.000 332 0% 419 28.2% 4 50% - - - HMMSmart_SM00044 UBN1 29855 genome.wustl.edu 37 16 4902950 4902950 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001079514.1 +1 validated p.S11Y 1.000 180 0% 192 33.3% 7 42.8% possibly_damaging(0.848) deleterious(0) deleterious(0.770) NULL PPL 5493 genome.wustl.edu 37 16 4933910 4933910 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002705.4 -1 reviewed p.L1582 0.934 256 0% 325 36% 118 55% - - - NULL PPL 5493 genome.wustl.edu 37 16 4934127 4934127 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002705.4 -1 reviewed p.G1510D 0.966 78 0% 68 22.1% 93 36.5% probably_damaging(0.97) tolerated(1) neutral(0.412) NULL C16orf89 146556 genome.wustl.edu 37 16 5094354 5094354 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001098514.1 -1 validated p.R399C 0.000 265 0% 423 26.2% 0 - unknown(0) - - NULL PDXDC1 23042 genome.wustl.edu 37 16 15130022 15130022 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015027.2 +1 validated p.P753S 0.006 179 0% 173 35.3% 100 44% benign(0.277) tolerated(0.3) neutral(0.058) NULL LOC100288226 100288226 genome.wustl.edu 37 16 15221643 15221643 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002343422.1 +1 model p.K95E 1.000 56 0% 52 19.2% 24 20.8% unknown(0) - - NULL NDE1 54820 genome.wustl.edu 37 16 15788055 15788055 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001143979.1 +1 reviewed p.T246I 1.000 109 0% 101 35.6% 13 76.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_NUDE_C MYH11 4629 genome.wustl.edu 37 16 15812255 15812255 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001040114.1 -1 reviewed p.I1745F 0.998 97 0% 79 26.6% 1 0% benign(0.057) deleterious(0) neutral(0.448) HMMPfam_Myosin_tail_1 MYH11 4629 genome.wustl.edu 37 16 15814784 15814784 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001040114.1 -1 reviewed p.N1575S 1.000 211 0% 228 33.3% 3 0% benign(0.256) deleterious(0.04) neutral(0.376) HMMPfam_Myosin_tail_1 NOMO3 408050 genome.wustl.edu 37 16 16337029 16337029 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001004067.2 +1 reviewed p.V105M 1.000 905 0% 1055 10.1% 17 23.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VWA3A 146177 genome.wustl.edu 37 16 22134971 22134971 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173615.3 +1 validated p.R492Q 0.987 164 0% 183 31.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EEF2K 29904 genome.wustl.edu 37 16 22276176 22276176 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013302.3 +1 reviewed p.E472G 0.998 161 0% 231 37.2% 5 20% possibly_damaging(0.861) tolerated(0.11) deleterious(0.605) NULL PALB2 79728 genome.wustl.edu 37 16 23646870 23646870 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024675.3 -1 reviewed p.T333A 0.000 357 0% 328 25.6% 4 75% benign(0.243) deleterious(0) deleterious(0.469) NULL ARHGAP17 55114 genome.wustl.edu 37 16 24981853 24981853 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001006634.1 -1 validated p.T83S 0.008 446 0% 480 27.9% 13 30.7% benign(0) tolerated(0.25) neutral(0.037) HMMPfam_BAR,HMMSmart_SM00721 IL4R 3566 genome.wustl.edu 37 16 27356224 27356224 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000418.2 +1 reviewed p.A82T 0.000 89 0% 101 40.6% 35 57.1% benign(0.002) tolerated(1) - superfamily_Fibronectin type III,HMMPfam_IL4Ra_N KIAA0556 23247 genome.wustl.edu 37 16 27777769 27777769 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015202.2 +1 validated p.K1317E 1.000 67 0% 71 28.2% 4 75% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_Galactose-binding domain-like APOBR 55911 genome.wustl.edu 37 16 28508302 28508302 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018690.2 +1 reviewed p.R638Q 0.000 69 0% 68 25% 6 0% benign(0.366) tolerated(0.57) neutral(0.123) NULL RABEP2 79874 genome.wustl.edu 37 16 28920012 28920012 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024816.2 -1 validated p.R388Q 0.999 195 0% 236 25.4% 25 64% probably_damaging(0.994) tolerated(0.74) neutral(0.454) HMMPfam_Rab5-bind DOC2A 8448 genome.wustl.edu 37 16 30018406 30018406 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003586.2 -1 reviewed p.A220 0.819 45 0% 58 27.6% 0 - - - - superfamily_C2_CaLB MAPK3 5595 genome.wustl.edu 37 16 30128010 30128010 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002746.2 -1 reviewed p.P373 0.988 34 0% 31 29% 123 50.4% - - - superfamily_Protein kinase-like (PK-like) ITGAL 3683 genome.wustl.edu 37 16 30506048 30506048 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002209.2 +1 reviewed p.F460 0.996 246 0% 317 32.5% 2 0% - - - HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain SRCAP 10847 genome.wustl.edu 37 16 30718620 30718620 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006662.2 +1 validated p.C141 1.000 141 0% 186 33.9% 7 42.8% - - - HMMPfam_HSA,HMMSmart_SM00573 SRCAP 10847 genome.wustl.edu 37 16 30721282 30721282 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006662.2 +1 validated p.L323 1.000 152 0% 242 31.4% 10 30% - - - NULL SRCAP 10847 genome.wustl.edu 37 16 30747906 30747906 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006662.2 +1 validated p.S2323 0.197 101 0% 105 31.4% 12 91.6% - - - NULL SRCAP 10847 genome.wustl.edu 37 16 30749579 30749579 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006662.2 +1 validated p.Q2740* 1.000 67 0% 77 28.6% 36 44.4% - - - NULL RNF40 9810 genome.wustl.edu 37 16 30783428 30783428 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014771.2 +1 reviewed p.R916W 0.998 97 0% 131 30.5% 67 47.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF646 9726 genome.wustl.edu 37 16 31088375 31088375 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014699.3 +1 validated p.C244R 0.997 99 0% 97 39.2% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ITGAX 3687 genome.wustl.edu 37 16 31367985 31367985 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000887.3 +1 reviewed p.N61 0.194 105 0% 94 14.9% 0 - - - - HMMSmart_Int_alpha,superfamily_SSF69318 RPGRIP1L 23322 genome.wustl.edu 37 16 53635992 53635992 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015272.2 -1 reviewed p.A1315V 0.913 289 0% 312 24.7% 6 16.6% benign(0.041) deleterious(0) neutral(0.447) NULL MMP2 4313 genome.wustl.edu 37 16 55532271 55532271 + Silent SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004530.4 +1 reviewed p.G560 0.640 175 0% 210 33.3% 17 0% - - - superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX NLRC5 84166 genome.wustl.edu 37 16 57093404 57093404 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032206.3 +1 validated p.I1316F 0.202 128 0% 165 27.9% 42 45.2% benign(0.275) deleterious(0.02) neutral(0.412) superfamily_RNI-like FAM192A 80011 genome.wustl.edu 37 16 57207697 57207697 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024946.2 -1 validated p.R24W 1.000 554 0.2% 615 32.5% 47 51% benign(0.003) deleterious(0.04) neutral(0.349) HMMPfam_Nefa_Nip30_N RSPRY1 89970 genome.wustl.edu 37 16 57238576 57238576 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_133368.1 +1 provisional p.I2 1.000 238 0% 226 32.7% 13 46.1% - - - NULL CNGB1 1258 genome.wustl.edu 37 16 57937840 57937840 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001297.4 -1 reviewed p.R894C 1.000 228 0% 226 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_cAMP-binding domain-like TEPP 374739 genome.wustl.edu 37 16 58018221 58018221 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_199046.2 +1 validated p.A135S 0.416 220 0% 230 24.3% 0 - possibly_damaging(0.664) tolerated(0.07) deleterious(0.554) NULL CNOT1 23019 genome.wustl.edu 37 16 58559235 58559235 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016284.3 -1 validated p.N2211S 1.000 351 0% 461 34.7% 111 41.4% probably_damaging(0.984) tolerated(0.06) deleterious(0.753) HMMPfam_Not1 CDH11 1009 genome.wustl.edu 37 16 65032487 65032487 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001797.2 -1 reviewed p.N167 0.911 171 0% 196 33.2% 0 - possibly_damaging(0.735) deleterious(0.02) deleterious(0.651) HMMPfam_Cadherin,superfamily_Cadherin-like DYNC1LI2 1783 genome.wustl.edu 37 16 66783105 66783105 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006141.2 -1 validated p.R98Q 1.000 503 0% 700 32.6% 17 29.4% benign(0.006) tolerated(0.39) neutral(0.016) HMMPfam_DLIC,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA0895L 653319 genome.wustl.edu 37 16 67210741 67210741 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001040715.1 -1 validated p.A463 0.669 74 0% 86 27.9% 14 57.1% - - - NULL FHOD1 29109 genome.wustl.edu 37 16 67263705 67263705 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013241.2 -1 reviewed p.R1135C 1.000 133 0% 145 32.4% 58 37.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FHOD1 29109 genome.wustl.edu 37 16 67270542 67270542 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013241.2 -1 reviewed p.G413S 0.000 75 0% 105 31.4% 8 75% probably_damaging(0.971) deleterious(0.03) deleterious(0.777) NULL CHTF8 54921 genome.wustl.edu 37 16 69154264 69154264 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000306585 -1 known p.R23Q 1.000 234 0% 271 36.2% 39 41% unknown(0) deleterious(0) - NULL CIRH1A 84916 genome.wustl.edu 37 16 69184590 69184590 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032830.2 +1 reviewed p.P297T 0.969 182 0% 200 29% 61 47.5% benign(0.005) tolerated(0.83) neutral(0.001) HMMSmart_SM00320,superfamily_WD40 repeat-like VPS4A 27183 genome.wustl.edu 37 16 69349965 69349965 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013245.2 +1 reviewed p.E26K 1.000 84 0% 103 32% 43 46.5% benign(0.008) tolerated(0.31) neutral(0.027) HMMPfam_MIT,HMMSmart_SM00745 PDPR 55066 genome.wustl.edu 37 16 70190439 70190439 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017990.3 +1 validated p.R766H 1.000 313 0% 372 18.5% 3 66.6% probably_damaging(0.965) deleterious(0.02) deleterious(0.790) HMMPfam_GCV_T_C,superfamily_SSF101790 HYDIN 54768 genome.wustl.edu 37 16 71096197 71096197 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032821.2 -1 validated p.T751A 0.000 185 0% 180 27.8% 0 - benign(0) tolerated(0.78) neutral(0.001) NULL HYDIN 54768 genome.wustl.edu 37 16 71101160 71101160 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000288168 -1 known p.S703L 0.000 52 0% 40 27.5% 0 - benign(0.424) - - NULL LOC401859 401859 genome.wustl.edu 37 16 74255307 74255307 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002344115.1 +1 model p.G158E 1.000 26 0% 32 40.6% 0 - - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like CHST6 4166 genome.wustl.edu 37 16 75513508 75513508 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021615.4 -1 reviewed p.A73 0.163 12 0% 21 61.9% 2 50% - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 CNTNAP4 85445 genome.wustl.edu 37 16 76532533 76532533 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033401.3 +1 reviewed p.Q769R 0.995 247 0% 248 27.8% 0 - - - - NULL MBTPS1 8720 genome.wustl.edu 37 16 84129262 84129262 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003791.2 -1 reviewed p.P190 0.023 108 0% 143 33.6% 22 54.5% - - - superfamily_Pept_S8_S53 TAF1C 9013 genome.wustl.edu 37 16 84213294 84213294 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005679.2 -1 reviewed p.C621 0.000 15 0% 32 34.4% 21 66.6% - - - NULL ZCCHC14 23174 genome.wustl.edu 37 16 87446744 87446744 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015144.2 -1 validated p.S417L 0.996 77 0% 86 32.6% 6 50% unknown(0) deleterious(0) - NULL SLC7A5 8140 genome.wustl.edu 37 16 87902661 87902661 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003486.5 -1 validated p.V123A 1.000 43 0% 52 30.8% 40 55% benign(0.09) tolerated(1) neutral(0.006) HMMPfam_AA_permease ZC3H18 124245 genome.wustl.edu 37 16 88697657 88697657 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144604.3 +1 validated p.V938M 1.000 47 0% 51 25.5% 46 43.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CBFA2T3 863 genome.wustl.edu 37 16 88951587 88951587 + Missense_Mutation SNP G G C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005187.4 -1 reviewed p.S328R 1.000 135 0% 152 28.9% 1 0% benign(0.024) deleterious(0.05) neutral(0.346) NULL LOC100289515 100289515 genome.wustl.edu 37 16 89167455 89167455 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002344124.1 -1 model p.C129R 0.006 59 0% 77 24.7% 1 0% - - - NULL ZNF778 197320 genome.wustl.edu 37 16 89289569 89289569 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182531.2 +1 validated p.A41V 0.004 300 0.7% 460 28.7% 1 100% benign(0) tolerated(0.13) neutral(0.253) superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ANKRD11 29123 genome.wustl.edu 37 16 89334972 89334972 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013275.4 -1 validated p.H2636Y 1.000 61 0% 95 25.3% 22 45.4% benign(0.044) tolerated(0.7) neutral(0.005) NULL ANKRD11 29123 genome.wustl.edu 37 16 89345738 89345738 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013275.4 -1 validated p.T2404 0.659 62 0% 68 36.8% 17 52.9% - - - NULL FANCA 2175 genome.wustl.edu 37 16 89831414 89831414 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000135.2 -1 reviewed p.V888I 0.000 101 0% 161 29.2% 12 41.6% benign(0.026) tolerated(0.44) neutral(0.014) NULL TUBB3 10381 genome.wustl.edu 37 16 90001646 90001646 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006086.2 +1 validated p.L263M 1.000 64 0% 101 23.8% 176 38.6% probably_damaging(0.962) deleterious(0) deleterious(0.850) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C C17orf97 400566 genome.wustl.edu 37 17 263084 263084 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001013672.4 +1 validated p.T150 0.000 225 0% 337 31.5% 12 41.6% - - - NULL GLOD4 51031 genome.wustl.edu 37 17 679144 679144 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016080.3 -1 validated p.S93P 1.000 147 0% 139 38.1% 65 50.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Glyoxalase SMYD4 114826 genome.wustl.edu 37 17 1686672 1686672 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052928.2 -1 validated p.R707W 1.000 27 0% 39 33.3% 4 50% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) superfamily_TPR-like RPA1 6117 genome.wustl.edu 37 17 1782886 1782886 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002945.3 +1 validated p.A329T 0.999 150 0% 225 10.2% 55 7.2% benign(0.031) deleterious(0.03) neutral(0.366) superfamily_Nucleic acid-binding proteins RPA1 6117 genome.wustl.edu 37 17 1791997 1791997 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002945.3 +1 validated p.V468A 0.998 137 0% 160 29.4% 53 52.8% possibly_damaging(0.558) deleterious(0.01) deleterious(0.596) HMMPfam_Rep_fac-A_C,superfamily_Nucleic acid-binding proteins RAP1GAP2 23108 genome.wustl.edu 37 17 2929681 2929681 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015085.4 +1 reviewed p.S635A 1.000 25 0% 32 25% 9 66.6% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL ITGAE 3682 genome.wustl.edu 37 17 3657109 3657109 + Missense_Mutation SNP C C T rs2272605 byCluster;byFrequency TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002208.4 -1 reviewed p.A499T 0.001 64 0% 59 30.5% 5 0% benign(0) tolerated(0.27) neutral(0.034) HMMSmart_Int_alpha,superfamily_SSF69318 CAMKK1 84254 genome.wustl.edu 37 17 3769245 3769245 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_172207.2 -1 reviewed p.R506W 0.990 148 0% 147 38.8% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CAMKK1 84254 genome.wustl.edu 37 17 3788965 3788965 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_172207.2 -1 reviewed p.A6V 0.514 74 0% 77 28.6% 1 100% benign(0.209) deleterious(0.01) neutral(0.426) NULL P2RX1 5023 genome.wustl.edu 37 17 3802294 3802294 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002558.2 -1 reviewed p.N300 0.304 179 0.6% 256 24.6% 1 0% - - - HMMPfam_P2X_receptor PELP1 27043 genome.wustl.edu 37 17 4576669 4576669 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014389.2 -1 validated p.R574H 0.157 52 0% 71 32.4% 40 45% unknown(0) tolerated(0.59) - HMMPfam_NUC202 VMO1 284013 genome.wustl.edu 37 17 4688848 4688848 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182566.2 -1 validated p.N140D 0.994 77 0% 116 35.3% 6 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_VOMI,superfamily_VOMI GP1BA 2811 genome.wustl.edu 37 17 4835905 4835905 + Silent SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000173.5 +1 reviewed p.P2 0.950 126 0% 181 29.8% 0 - - - - NULL GP1BA 2811 genome.wustl.edu 37 17 4836225 4836225 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000173.5 +1 reviewed p.P109L 0.984 50 0% 48 27.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF52058 SLC52A1 55065 genome.wustl.edu 37 17 4937156 4937156 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001104577.1 -1 validated p.A210T 0.643 67 0% 103 24.3% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL FAM64A 54478 genome.wustl.edu 37 17 6348629 6348629 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019013.1 +1 provisional p.P67S 0.959 89 0% 81 34.6% 9 55.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF1466 DLG4 1742 genome.wustl.edu 37 17 7096996 7096996 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001365.3 -1 reviewed p.T570 0.007 220 0.5% 270 30.7% 4 25% - - - superfamily_SH3,superfamily_SSF52540 DLG4 1742 genome.wustl.edu 37 17 7100284 7100284 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001365.3 -1 reviewed p.R335Q 1.000 83 0% 107 34.6% 9 22.2% benign(0.159) tolerated(0.37) neutral(0.033) HMMPfam_PDZ_assoc POLR2A 5430 genome.wustl.edu 37 17 7400677 7400677 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000937.3 +1 validated p.D274 1.000 38 0% 33 45.5% 26 34.6% - - - HMMPfam_RNA_pol_Rpb1_1,superfamily_SSF64484 POLR2A 5430 genome.wustl.edu 37 17 7403995 7403995 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000937.3 +1 validated p.W570L 1.000 239 0% 326 32.2% 25 36% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb1_3,superfamily_SSF64484 EIF4A1 1973 genome.wustl.edu 37 17 7481145 7481145 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001416.2 +1 validated p.H303Y 1.000 236 0% 329 31.6% 1798 45.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH2 146754 genome.wustl.edu 37 17 7689629 7689629 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020877.2 +1 validated p.R2106H 0.047 78 0% 117 35% 0 - benign(0.002) tolerated(0.05) neutral(0.345) HMMPfam_AAA_5 CHD3 1107 genome.wustl.edu 37 17 7804274 7804274 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005271.2 +1 reviewed p.C1087Y 1.000 228 0% 290 29.3% 19 47.3% probably_damaging(0.994) - - HMMPfam_SNF2_N CHD3 1107 genome.wustl.edu 37 17 7813890 7813890 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005271.2 +1 reviewed p.T1971M 0.999 77 0% 70 42.9% 113 40.7% benign(0.073) - - NULL ALOX12B 242 genome.wustl.edu 37 17 7979992 7979992 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001139.2 -1 reviewed p.G449R 0.134 132 0% 194 37.1% 0 - possibly_damaging(0.952) tolerated(0.39) neutral(0.412) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase PER1 5187 genome.wustl.edu 37 17 8045140 8045140 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002616.2 -1 reviewed p.R1195W 1.000 153 0% 136 33.1% 21 42.8% possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) NULL PFAS 5198 genome.wustl.edu 37 17 8171914 8171914 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012393.2 +1 reviewed p.R1149Q 1.000 49 0% 61 36.1% 22 40.9% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_Class I glutamine amidotransferase-like DNAH9 1770 genome.wustl.edu 37 17 11806206 11806206 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001372.3 +1 reviewed p.P3859 0.797 92 0% 93 31.2% 0 - - - - HMMPfam_Dynein_heavy ARHGAP44 9912 genome.wustl.edu 37 17 12862044 12862044 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014859.4 +1 validated p.F451 1.000 242 0% 358 28.5% 5 20% - - - NULL HS3ST3B1 9953 genome.wustl.edu 37 17 14248392 14248392 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006041.1 +1 reviewed p.T201M 1.000 125 0% 155 19.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases RAI1 10743 genome.wustl.edu 37 17 17699242 17699242 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030665.3 +1 reviewed p.R994W 0.256 31 0% 20 50% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO15A 51168 genome.wustl.edu 37 17 18023309 18023309 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016239.3 +1 reviewed p.Y399H 0.886 54 0% 88 34.1% 0 - probably_damaging(0.976) - - NULL MAPK7 5598 genome.wustl.edu 37 17 19284087 19284087 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002749.3 +1 reviewed p.L189 0.800 144 0% 233 24.5% 12 25% - - - HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000167524 0 genome.wustl.edu 37 17 26940119 26940119 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000301037 -1 known p.C152R 1.000 338 0% 379 27.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SSH2 85464 genome.wustl.edu 37 17 27959445 27959445 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033389.2 -1 reviewed p.R896C 0.992 296 0.3% 237 34.2% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PSMD11 5717 genome.wustl.edu 37 17 30781618 30781618 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002815.2 +1 reviewed p.E100V 1.000 256 0% 281 34.9% 73 41% benign(0.327) deleterious(0.01) deleterious(0.508) NULL TMEM98 26022 genome.wustl.edu 37 17 31260263 31260263 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001033504.1 +1 validated p.V68A 1.000 289 0% 396 30.6% 2 0% benign(0.005) tolerated(0.29) neutral(0.029) NULL RFFL 117584 genome.wustl.edu 37 17 33353415 33353415 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001017368.1 -1 validated p.H53R 0.996 98 0% 97 29.9% 4 50% benign(0.003) tolerated(0.54) neutral(0.007) superfamily_FYVE/PHD zinc finger SLFN13 146857 genome.wustl.edu 37 17 33767766 33767766 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144682.5 -1 validated p.H848Y 0.000 461 0% 559 34% 4 50% benign(0) tolerated(0.14) neutral(0.249) superfamily_P-loop containing nucleoside triphosphate hydrolases ACACA 31 genome.wustl.edu 37 17 35641817 35641817 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198834.1 -1 reviewed p.I131M 1.000 278 0% 271 35.1% 1 0% benign(0) tolerated(0.42) neutral(0.014) NULL MLLT6 4302 genome.wustl.edu 37 17 36868110 36868110 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005937.3 +1 validated p.R188Q 0.936 226 0% 287 23% 12 16.6% possibly_damaging(0.6) deleterious(0.05) deleterious(0.553) NULL FBXO47 494188 genome.wustl.edu 37 17 37111107 37111107 + Splice_Site SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001008777.2 -1 validated e4+2 1.000 161 0% 216 31.5% 0 - - - - - CACNB1 782 genome.wustl.edu 37 17 37343135 37343135 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000723.3 -1 reviewed p.C154 0.990 61 0% 66 25.8% 0 - - - - HMMPfam_SH3_1,superfamily_SH3-domain PSMD3 5709 genome.wustl.edu 37 17 38140708 38140708 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002809.2 +1 reviewed p.R128* 1.000 152 0% 225 31.6% 63 1.5% - - - superfamily_TPR-like NR1D1 9572 genome.wustl.edu 37 17 38252061 38252061 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021724.2 -1 provisional p.A295V 1.000 162 0% 183 29% 31 45.1% possibly_damaging(0.476) tolerated(0.06) deleterious(0.480) NULL KRT25 147183 genome.wustl.edu 37 17 38910199 38910199 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181534.3 -1 reviewed p.D194 1.000 254 0% 257 27.6% 0 - - - - HMMPfam_Filament KRT12 3859 genome.wustl.edu 37 17 39022440 39022440 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000223.3 -1 reviewed p.N206S 1.000 173 0% 205 27.3% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Filament KRT12 3859 genome.wustl.edu 37 17 39023176 39023176 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000223.3 -1 reviewed p.A88V 0.033 82 0% 92 37% 1 0% unknown(0) tolerated(0.18) - NULL KRT20 54474 genome.wustl.edu 37 17 39041140 39041140 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019010.1 -1 reviewed p.V100M 0.000 252 0% 273 22.7% 0 - benign(0.263) tolerated(0.11) neutral(0.299) HMMPfam_Filament KRT13 3860 genome.wustl.edu 37 17 39658841 39658841 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153490.2 -1 reviewed p.A343 0.014 75 0% 101 36.6% 41 85.3% - - - HMMPfam_Filament STAT3 6774 genome.wustl.edu 37 17 40498610 40498610 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139276.2 -1 reviewed p.R84* 1.000 281 0% 245 29.4% 32 3.1% - - - HMMPfam_STAT_int,superfamily_Transcription factor STAT-4 N-domain COASY 80347 genome.wustl.edu 37 17 40717048 40717048 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001042532.2 +1 validated p.R458W 1.000 231 0% 288 34% 126 41.2% possibly_damaging(0.836) deleterious(0.03) deleterious(0.684) HMMPfam_CoaE,superfamily_SSF52540 TUBG1 7283 genome.wustl.edu 37 17 40766321 40766321 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001070.4 +1 reviewed p.R296Q 1.000 134 0% 167 29.3% 90 38.8% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C TUBG2 27175 genome.wustl.edu 37 17 40817816 40817816 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016437.2 +1 validated p.G272S 0.999 320 0% 425 38.1% 21 4.7% probably_damaging(1) tolerated(1) deleterious(0.500) superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C CNTNAP1 8506 genome.wustl.edu 37 17 40837389 40837389 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003632.2 +1 reviewed p.Y222 0.883 42 0% 66 34.8% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 VAT1 10493 genome.wustl.edu 37 17 41170144 41170144 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000315674 -1 known p.A225T 1.000 193 0% 219 41.6% 89 47.1% benign(0.004) tolerated(0.14) neutral(0.249) NULL C17orf53 78995 genome.wustl.edu 37 17 42226248 42226248 + Silent SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024032.3 +1 validated p.P359 0.805 213 0% 319 14.1% 2 50% - - - NULL TMUB2 79089 genome.wustl.edu 37 17 42267919 42267919 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001076674.1 +1 validated p.R218H 1.000 136 0% 131 34.4% 59 47.4% benign(0.316) deleterious(0.01) deleterious(0.505) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like ITGA2B 3674 genome.wustl.edu 37 17 42457993 42457993 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000419.3 -1 reviewed p.G472R 0.996 265 0% 398 32.2% 0 - possibly_damaging(0.825) deleterious(0.01) deleterious(0.718) HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain GJC1 10052 genome.wustl.edu 37 17 42882784 42882784 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080383.1 -1 reviewed p.N134 0.629 465 0.2% 495 28.5% 1 100% - - - NULL KIF18B 146909 genome.wustl.edu 37 17 43012694 43012694 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080443.1 -1 provisional p.E135V 1.000 147 0% 188 27.1% 2 50% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases DCAKD 79877 genome.wustl.edu 37 17 43101812 43101812 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001128631.1 -1 validated p.P229S 0.998 92 0% 132 30.3% 31 54.8% unknown(0) - - NULL FMNL1 752 genome.wustl.edu 37 17 43323872 43323872 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005892.3 +1 reviewed p.V1071A 1.000 127 0% 227 29.5% 3 0% unknown(0) tolerated(0.98) - NULL TBKBP1 9755 genome.wustl.edu 37 17 45774521 45774521 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014726.2 +1 validated p.V139M 0.996 157 0% 272 18% 4 0% probably_damaging(0.99) tolerated(0.23) deleterious(0.483) NULL MRPL10 124995 genome.wustl.edu 37 17 45904012 45904012 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_145255.2 -1 reviewed p.P175S 0.991 75 0% 117 23.1% 51 41.1% benign(0.097) tolerated(0.1) neutral(0.294) NULL SLC35B1 10237 genome.wustl.edu 37 17 47781533 47781533 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005827.1 -1 provisional p.A195V 1.000 317 0% 442 29.6% 118 42.3% possibly_damaging(0.671) deleterious(0.02) deleterious(0.621) HMMPfam_UAA XYLT2 64132 genome.wustl.edu 37 17 48434050 48434050 + Missense_Mutation SNP T T C rs145209463 TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022167.2 +1 reviewed p.M554T 0.993 55 0% 56 25% 17 47% benign(0) tolerated(0.53) neutral(0.007) NULL LRRC59 55379 genome.wustl.edu 37 17 48462480 48462480 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018509.3 -1 validated p.P225 0.020 340 0% 377 34.5% 181 44.7% - - - NULL RSAD1 55316 genome.wustl.edu 37 17 48560721 48560721 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018346.1 +1 provisional p.P309S 0.989 91 0% 95 30.5% 11 27.2% benign(0.024) tolerated(0.79) neutral(0.002) HMMPfam_HemN_C,superfamily_SSF102114 SPATA20 64847 genome.wustl.edu 37 17 48628660 48628660 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000503063 +1 known p.I502S 0.000 16 0.000 9 0.444 0 - - - - NULL KIF2B 84643 genome.wustl.edu 37 17 51902247 51902247 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032559.4 +1 validated p.Q618R 0.000 324 0% 421 34.4% 0 - benign(0.049) tolerated(0.94) neutral(0.003) NULL AKAP1 8165 genome.wustl.edu 37 17 55183902 55183902 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003488.3 +1 reviewed p.A359 0.385 190 0% 259 32% 24 37.5% - - - HMMPfam_RII_binding_1 SKA2 348235 genome.wustl.edu 37 17 57196747 57196747 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182620.3 -1 validated p.R77H 0.100 532 0.2% 607 36.1% 30 43.3% benign(0.006) tolerated(0.05) neutral(0.345) NULL APPBP2 10513 genome.wustl.edu 37 17 58529256 58529256 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006380.2 -1 reviewed p.R497* 1.000 171 0.6% 155 29.7% 17 11.7% - - - HMMSmart_SM00028,superfamily_TPR-like EFCAB3 146779 genome.wustl.edu 37 17 60491150 60491150 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001144933.1 +1 validated p.I361V 0.101 245 0% 221 30.8% 0 - possibly_damaging(0.869) deleterious(0) deleterious(0.782) NULL TANC2 26115 genome.wustl.edu 37 17 61278158 61278158 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025185.3 +1 validated p.S129R 1.000 318 0% 282 19.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FTSJ3 117246 genome.wustl.edu 37 17 61898462 61898462 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017647.3 -1 reviewed p.R634C 0.000 98 0% 122 23% 42 40.4% probably_damaging(0.97) tolerated(0.06) deleterious(0.735) NULL ENSG00000232457 0 genome.wustl.edu 37 17 62950334 62950334 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000413214 +1 known p.G31 0.717 136 0% 174 28.2% 0 - - - - superfamily_MFS general substrate transporter PRKCA 5578 genome.wustl.edu 37 17 64731714 64731714 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002737.2 +1 reviewed p.K388 1.000 193 0% 332 30.4% 7 42.8% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PITPNC1 26207 genome.wustl.edu 37 17 65529056 65529056 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012417.2 +1 reviewed p.Y63H 1.000 71 0% 122 36.9% 55 43.6% benign(0.032) tolerated(1) neutral(0.002) HMMPfam_IP_trans,superfamily_Bet v1-like SOX9 6662 genome.wustl.edu 37 17 70118957 70118957 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000346.3 +1 reviewed p.R177W 1.000 36 0% 53 32.1% 64 45.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HMG-box SOX9 6662 genome.wustl.edu 37 17 70119768 70119768 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000346.3 +1 reviewed p.R257H 1.000 41 0% 40 22.5% 52 36.5% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL CD300LB 124599 genome.wustl.edu 37 17 72522141 72522141 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_174892.2 -1 validated p.K76R 0.000 325 0% 331 27.5% 0 - benign(0.081) tolerated(0.32) neutral(0.030) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MIF4GD 57409 genome.wustl.edu 37 17 73262994 73262994 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020679.2 -1 validated p.N200D 1.000 91 0% 103 30.1% 33 48.4% probably_damaging(0.996) tolerated(0.21) deleterious(0.506) HMMPfam_MIF4G,superfamily_ARM-type_fold GRB2 2885 genome.wustl.edu 37 17 73322034 73322034 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002086.4 -1 reviewed p.A82T 1.000 185 0.5% 228 26.8% 70 54.2% probably_damaging(0.979) tolerated(0.06) deleterious(0.744) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain UNC13D 201294 genome.wustl.edu 37 17 73839346 73839346 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_199242.2 -1 reviewed p.R52Q 1.000 31 0% 42 26.2% 18 33.3% benign(0.012) tolerated(0.3) neutral(0.029) NULL FBF1 85302 genome.wustl.edu 37 17 73908311 73908311 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080542.1 -1 provisional p.H1094N 0.001 50 0% 76 35.5% 28 50% possibly_damaging(0.667) tolerated(0.13) deleterious(0.488) NULL EVPL 2125 genome.wustl.edu 37 17 74017803 74017803 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001988.2 -1 validated p.D289 0.951 23 0% 37 45.9% 24 37.5% - - - HMMSmart_SM00150,superfamily_Spectrin repeat SEPT9 10801 genome.wustl.edu 37 17 75484880 75484880 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001113491.1 +1 reviewed p.R399H 1.000 144 0% 163 28.2% 225 43.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH17 8632 genome.wustl.edu 37 17 76454711 76454711 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000389840 -1 known p.A3291S 0.336 457 0% 556 20% 0 - benign(0.024) tolerated(0.36) neutral(0.021) NULL SLC26A11 284129 genome.wustl.edu 37 17 78222443 78222443 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173626.3 +1 reviewed p.R498W 0.994 72 0% 77 19.5% 13 53.8% benign(0.081) deleterious(0.01) neutral(0.412) HMMPfam_STAS,superfamily_STAS AATK 9625 genome.wustl.edu 37 17 79095472 79095472 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080395.2 -1 reviewed p.A755V 0.003 12 0% 28 32.1% 0 - benign(0.108) deleterious(0) neutral(0.453) NULL SLC38A10 124565 genome.wustl.edu 37 17 79249910 79249910 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001037984.1 -1 validated p.A257 0.044 66 0% 105 29.5% 40 45% - - - HMMPfam_Aa_trans BAHCC1 57597 genome.wustl.edu 37 17 79414442 79414442 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000436173 +1 known p.R1182* 0.000 22 0% 41 34.1% 1 100% - - - NULL BAHCC1 57597 genome.wustl.edu 37 17 79425860 79425860 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000436173 +1 known p.R1824C 1.000 34 0% 25 20% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C17orf70 80233 genome.wustl.edu 37 17 79514606 79514606 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025161.5 -1 validated p.T350M 0.001 78 0% 105 40% 22 22.7% benign(0.406) tolerated(0.1) neutral(0.417) NULL FASN 2194 genome.wustl.edu 37 17 80042524 80042524 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004104.4 -1 reviewed p.R1545C 1.000 78 0% 89 33.7% 95 42.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_GroES-like ZNF750 79755 genome.wustl.edu 37 17 80788076 80788076 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024702.2 -1 reviewed p.A705V 0.000 148 0% 216 35.6% 4 50% benign(0) tolerated(0.87) neutral(0.001) NULL COLEC12 81035 genome.wustl.edu 37 18 331711 331711 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_130386.2 -1 validated p.E674K 1.000 380 0% 445 31.9% 0 - possibly_damaging(0.653) - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like METTL4 64863 genome.wustl.edu 37 18 2567101 2567101 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022840.3 -1 validated p.F39L 0.000 167 0% 238 12.6% 2 50% benign(0.003) tolerated(0.23) neutral(0.042) NULL SMCHD1 23347 genome.wustl.edu 37 18 2728475 2728475 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015295.2 +1 validated p.V932L 1.000 280 0% 223 30.5% 6 16.6% probably_damaging(0.974) tolerated(0.37) neutral(0.435) NULL EMILIN2 84034 genome.wustl.edu 37 18 2909747 2909747 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032048.2 +1 validated p.P918 1.000 264 0% 320 37.2% 15 13.3% - - - HMMPfam_C1q,superfamily_TNF_like LPIN2 9663 genome.wustl.edu 37 18 2923856 2923856 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014646.2 -1 reviewed p.S697 0.998 262 0.4% 287 28.9% 2 50% - - - HMMPfam_LNS2,HMMSmart_LNS2,superfamily_SSF56784 MYOM1 8736 genome.wustl.edu 37 18 3102520 3102520 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003803.3 -1 reviewed p.V1176A 0.720 326 0% 339 33.9% 0 - benign(0.01) tolerated(0.76) neutral(0.002) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MYOM1 8736 genome.wustl.edu 37 18 3119939 3119939 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003803.3 -1 reviewed p.M1016V 0.993 103 0% 134 34.3% 0 - benign(0) tolerated(0.53) neutral(0.007) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DLGAP1 9229 genome.wustl.edu 37 18 3729264 3729264 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004746.2 -1 provisional p.R488C 1.000 18 0% 37 45.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LAMA1 284217 genome.wustl.edu 37 18 7032152 7032152 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005559.2 -1 validated p.R729 0.000 117 0% 144 27.1% 0 - - - - HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin ENSG00000168738 0 genome.wustl.edu 37 18 10800433 10800433 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000302079 -1 known p.H299R 1.000 163 0% 183 25.1% 0 - benign(0.013) tolerated(0.59) neutral(0.005) NULL ENSG00000153081 0 genome.wustl.edu 37 18 11619707 11619707 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000283050 -1 known p.C285Y 0.013 93 0% 169 31.4% 0 - possibly_damaging(0.76) tolerated(0.15) deleterious(0.522) HMMPfam_NPIP PTPN2 5771 genome.wustl.edu 37 18 12794321 12794321 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002828.2 -1 reviewed p.A402T 0.994 299 0% 316 34.2% 18 88.8% possibly_damaging(0.507) deleterious(0.01) deleterious(0.575) NULL MC5R 4161 genome.wustl.edu 37 18 13825978 13825978 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005913.1 +1 provisional p.Y72H 1.000 222 0% 271 32.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ANKRD30B 374860 genome.wustl.edu 37 18 14763986 14763986 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145029.1 +1 validated p.C374 0.025 114 0% 131 22.9% 0 - - - - NULL ZNF521 25925 genome.wustl.edu 37 18 22804579 22804579 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015461.2 -1 validated p.K1101 1.000 201 0% 145 33.1% 0 - - - - NULL DSC3 1825 genome.wustl.edu 37 18 28609589 28609589 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001941.3 -1 reviewed p.S120 0.003 152 0% 154 31.2% 0 - - - - superfamily_Cadherin-like DSG4 147409 genome.wustl.edu 37 18 28993483 28993483 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001134453.1 +1 reviewed p.T1035 0.653 81 0% 117 28.2% 0 - - - - NULL TRAPPC8 22878 genome.wustl.edu 37 18 29487515 29487515 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014939.3 -1 validated p.V433M 1.000 243 0% 223 25.6% 4 25% possibly_damaging(0.789) tolerated(0.12) deleterious(0.556) NULL MEP1B 4225 genome.wustl.edu 37 18 29787295 29787295 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005925.2 +1 validated p.H210Y 1.000 151 0% 174 33.3% 0 - benign(0.42) deleterious(0) deleterious(0.581) "HMMPfam_Astacin,superfamily_Metalloproteases (""zincins"") catalytic domain" ASXL3 80816 genome.wustl.edu 37 18 31318763 31318763 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030632.1 +1 provisional p.C465 0.998 132 0% 78 25.6% 0 - - - - NULL NOL4 8715 genome.wustl.edu 37 18 31803196 31803196 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003787.3 -1 validated p.Y8H 1.000 94 0% 119 27.7% 0 - benign(0.304) tolerated(0.48) neutral(0.105) NULL GALNT1 2589 genome.wustl.edu 37 18 33283600 33283600 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020474.3 +1 reviewed p.D509G 1.000 259 0% 238 31.9% 70 40% possibly_damaging(0.915) tolerated(0.08) deleterious(0.666) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins RPRD1A 55197 genome.wustl.edu 37 18 33607273 33607273 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018170.3 -1 provisional p.T163S 1.000 157 0% 159 30.8% 19 42.1% possibly_damaging(0.808) tolerated(0.68) neutral(0.306) NULL CELF4 56853 genome.wustl.edu 37 18 34854349 34854349 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020180.3 -1 reviewed p.Q242 1.000 30 0% 32 40.6% 0 - - - - NULL RNF165 494470 genome.wustl.edu 37 18 44013367 44013367 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152470.2 +1 validated p.D92 1.000 26 0% 27 40.7% 0 - - - - NULL ST8SIA5 29906 genome.wustl.edu 37 18 44272211 44272211 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013305.4 -1 reviewed p.Q78* 1.000 164 0% 206 28.2% 1 0% - - - NULL DYM 54808 genome.wustl.edu 37 18 46783417 46783417 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017653.3 -1 reviewed p.R475C 0.994 269 0% 254 31.1% 26 50% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Dymeclin CXXC1 30827 genome.wustl.edu 37 18 47812296 47812296 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001101654.1 -1 validated p.H154Q 0.926 72 0% 79 38% 52 46.1% unknown(0) tolerated(0.34) - NULL ME2 4200 genome.wustl.edu 37 18 48473420 48473420 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002396.4 +1 reviewed p.F541L 1.000 168 0% 189 30.2% 29 31% benign(0.001) tolerated(0.14) neutral(0.249) superfamily_NAD(P)-bd DCC 1630 genome.wustl.edu 37 18 51013309 51013309 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005215.3 +1 reviewed p.F1293 0.416 178 0% 207 33.3% 0 - - - - HMMPfam_Neogenin_C ALPK2 115701 genome.wustl.edu 37 18 56182259 56182259 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052947.3 -1 validated p.A1999T 1.000 172 0% 220 28.6% 0 - possibly_damaging(0.561) tolerated(0.08) deleterious(0.491) HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like) KIAA1468 57614 genome.wustl.edu 37 18 59949537 59949537 + Splice_Site SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020854.3 +1 validated e25-2 1.000 237 0% 239 32.6% 1 0% - - - - PHLPP1 23239 genome.wustl.edu 37 18 60570204 60570204 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_194449.2 +1 validated p.V306I 0.013 207 0% 210 31% 7 28.5% benign(0.01) tolerated(0.47) neutral(0.011) superfamily_L domain-like VPS4B 9525 genome.wustl.edu 37 18 61064394 61064394 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004869.3 -1 reviewed p.T322M 0.209 357 0% 370 39.2% 56 48.2% probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases RTTN 25914 genome.wustl.edu 37 18 67753848 67753848 + Splice_Site SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173630.3 -1 validated e32+1 1.000 196 0% 164 24.4% 0 - - - - - RTTN 25914 genome.wustl.edu 37 18 67759947 67759947 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173630.3 -1 validated p.L1333 1.000 227 0% 261 31.8% 1 0% - - - NULL ZNF407 55628 genome.wustl.edu 37 18 72343403 72343403 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017757.2 +1 reviewed p.V143A 0.000 179 0% 207 33.8% 1 100% benign(0.001) deleterious(0) neutral(0.445) NULL GALR1 2587 genome.wustl.edu 37 18 74962958 74962958 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001480.3 +1 reviewed p.A152T 1.000 39 0% 52 42.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MIER2 54531 genome.wustl.edu 37 19 307463 307463 + Silent SNP C C T rs2289868 TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017550.1 -1 provisional p.S424 0.454 11 0% 18 22.2% 23 17.3% - - - NULL HCN2 610 genome.wustl.edu 37 19 603797 603797 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001194.3 +1 validated p.V296M 1.000 123 0% 227 15% 1 0% possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMPfam_Ion_trans,superfamily_SSF81324 FSTL3 10272 genome.wustl.edu 37 19 681547 681547 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005860.2 +1 reviewed p.A240 0.456 26 0% 37 21.6% 23 26% - - - HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors KLK10 5655 genome.wustl.edu 37 19 691881 691881 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_214710.3 -1 validated p.A120T 0.000 74 0% 106 23.6% 0 - benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases C19orf21 126353 genome.wustl.edu 37 19 758459 758459 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173481.2 +1 predicted p.R505C 0.021 52 0% 46 23.9% 126 53.9% benign(0.377) deleterious(0.03) deleterious(0.485) NULL ABCA7 10347 genome.wustl.edu 37 19 1042361 1042361 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019112.3 +1 reviewed p.D155N 0.005 49 0% 70 22.9% 14 42.8% unknown(0) - - NULL SBNO2 22904 genome.wustl.edu 37 19 1111055 1111055 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014963.2 -1 validated p.G949 0.962 88 0% 66 31.8% 165 39.3% - - - NULL NDUFS7 374291 genome.wustl.edu 37 19 1393315 1393315 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024407.4 +1 reviewed p.D177G 1.000 58 0% 51 39.2% 241 41.9% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Oxidored_q6,PatternScan_COMPLEX1_20K,superfamily_Nickel-iron hydrogenase small subunit ATP8B3 148229 genome.wustl.edu 37 19 1792052 1792052 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138813.2 -1 reviewed p.R713H 0.041 30 0% 20 35% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) superfamily_SSF56784,superfamily_SSF81660 REXO1 57455 genome.wustl.edu 37 19 1828261 1828261 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020695.3 -1 validated p.P176Q 0.002 8 0.000 24 0.375 5 60% benign(0.293) deleterious(0.05) neutral(0.436) NULL CSNK1G2 1455 genome.wustl.edu 37 19 1978657 1978657 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001319.6 +1 validated p.L119 1.000 18 0% 30 36.7% 53 39.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase BTBD2 55643 genome.wustl.edu 37 19 1990753 1990753 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017797.3 -1 reviewed p.D251 0.953 170 0% 214 27.6% 86 34.8% - - - HMMPfam_BACK DOT1L 84444 genome.wustl.edu 37 19 2189732 2189732 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032482.2 +1 validated p.F68L 1.000 39 0% 70 10% 11 18.1% possibly_damaging(0.499) deleterious(0.02) deleterious(0.549) superfamily_SSF53335 DOT1L 84444 genome.wustl.edu 37 19 2213545 2213545 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032482.2 +1 validated p.N522S 0.996 82 0% 144 27.8% 11 54.5% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) NULL DIRAS1 148252 genome.wustl.edu 37 19 2717777 2717777 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_145173.3 -1 validated p.V10M 1.000 47 0% 48 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 TLE2 7089 genome.wustl.edu 37 19 2997883 2997883 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003260.4 -1 validated p.G732V 1.000 244 0% 275 21.1% 49 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CELF5 60680 genome.wustl.edu 37 19 3282370 3282370 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021938.3 +1 reviewed p.L305 1.000 88 0% 94 31.9% 0 - - - - NULL MATK 4145 genome.wustl.edu 37 19 3779022 3779022 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002378.3 -1 reviewed p.K390E 1.000 40 0% 51 21.6% 0 - possibly_damaging(0.669) deleterious(0) deleterious(0.681) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like EEF2 1938 genome.wustl.edu 37 19 3977878 3977878 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001961.3 -1 reviewed p.V669A 1.000 74 0% 83 30.1% 2509 44.4% benign(0.098) deleterious(0.03) neutral(0.372) HMMPfam_EFG_IV,superfamily_Ribosomal protein S5 domain 2-like CCDC94 55702 genome.wustl.edu 37 19 4247164 4247164 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018074.4 +1 provisional p.L7 0.999 429 0% 656 35.8% 14 50% - - - HMMPfam_DUF572 FSD1 79187 genome.wustl.edu 37 19 4312031 4312031 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024333.2 +1 reviewed p.T228I 0.891 38 0% 51 41.2% 2 0% possibly_damaging(0.736) deleterious(0.02) deleterious(0.652) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CHAF1A 10036 genome.wustl.edu 37 19 4443092 4443092 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000344143 +1 known p.N720K 0.000 28 0% 33 39.4% 51 37.2% unknown(0) - - NULL UBXN6 80700 genome.wustl.edu 37 19 4454061 4454061 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025241.2 -1 validated p.Q38R 0.009 229 0% 267 31.5% 65 60% benign(0.276) tolerated(0.43) neutral(0.043) NULL PLIN5 440503 genome.wustl.edu 37 19 4531784 4531784 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001013706.2 -1 validated p.T37 0.001 9 0.000 13 0.308 2 0% - - - HMMPfam_Perilipin SEMA6B 10501 genome.wustl.edu 37 19 4555495 4555495 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032108.2 -1 reviewed p.L185I 1.000 175 0% 237 21.5% 3 0% probably_damaging(0.963) tolerated(0.36) neutral(0.426) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain DPP9 91039 genome.wustl.edu 37 19 4683626 4683626 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139159.4 -1 reviewed p.E732K 1.000 57 0% 75 32% 36 52.7% possibly_damaging(0.49) tolerated(0.51) neutral(0.172) HMMPfam_Peptidase_S9,superfamily_SSF53474 LOC100133070 100133070 genome.wustl.edu 37 19 4793732 4793732 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_001719147.1 -1 model p.V82I 0.924 49 0% 78 39.7% 25 40% - - - NULL PTPRS 5802 genome.wustl.edu 37 19 5238951 5238951 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002850.3 -1 reviewed p.R610W 0.051 22 0% 24 20.8% 15 46.6% probably_damaging(0.997) tolerated(0.18) deleterious(0.522) superfamily_Fibronectin type III SAFB2 9667 genome.wustl.edu 37 19 5595452 5595452 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014649.2 -1 validated p.S613 0.041 407 0.2% 517 21.7% 41 34.1% - - - superfamily_SSF54928 LONP1 9361 genome.wustl.edu 37 19 5711909 5711909 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004793.2 -1 reviewed p.D248G 0.619 55 0% 62 17.7% 47 44.6% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_LON,HMMSmart_LON DUS3L 56931 genome.wustl.edu 37 19 5790344 5790344 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020175.2 -1 validated p.Y34C 1.000 79 0% 69 14.5% 21 9.5% possibly_damaging(0.71) tolerated(0.18) neutral(0.312) NULL TNFSF14 8740 genome.wustl.edu 37 19 6669948 6669948 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003807.3 -1 reviewed p.L45M 0.649 50 0% 56 44.6% 0 - possibly_damaging(0.527) tolerated(0.07) deleterious(0.497) NULL C3 718 genome.wustl.edu 37 19 6684649 6684649 + Missense_Mutation SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000064.2 -1 reviewed p.Y1348D 0.587 464 0% 566 33% 2372 49.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3 718 genome.wustl.edu 37 19 6697357 6697357 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000064.2 -1 reviewed p.V932M 1.000 106 0% 103 28.2% 1476 47.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL INSR 3643 genome.wustl.edu 37 19 7166347 7166347 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000208.2 -1 reviewed p.D560V 1.000 178 0% 195 27.2% 9 44.4% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMSmart_SM00060,superfamily_Fibronectin type III ARHGEF18 23370 genome.wustl.edu 37 19 7506653 7506653 + Splice_Site SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001130955.1 +1 reviewed e2+2 0.999 184 0% 269 33.5% 0 - - - - - LRRC8E 80131 genome.wustl.edu 37 19 7963967 7963967 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025061.3 +1 validated p.I187T 0.000 71 0% 95 30.5% 12 41.6% benign(0) tolerated(0.6) neutral(0.004) NULL MUC16 94025 genome.wustl.edu 37 19 9090867 9090867 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024690.2 -1 validated p.E316 0.000 241 0% 255 31.4% 0 - - - - NULL OR7D4 125958 genome.wustl.edu 37 19 9324655 9324655 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001005191.1 -1 provisional p.P287S 1.000 108 0% 117 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF426 79088 genome.wustl.edu 37 19 9639398 9639398 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024106.1 -1 provisional p.T441 0.932 245 0% 308 29.9% 2 50% - - - HMMSmart_SM00614,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RDH8 50700 genome.wustl.edu 37 19 10132330 10132330 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015725.2 +1 validated p.T281A 0.483 147 0% 141 29.8% 0 - benign(0) tolerated(0.58) neutral(0.005) NULL S1PR2 9294 genome.wustl.edu 37 19 10335502 10335502 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004230.3 -1 validated p.T27M 0.002 93 0% 96 27.1% 3 33.3% benign(0.004) tolerated(0.16) neutral(0.059) superfamily_SSF81321 ICAM5 7087 genome.wustl.edu 37 19 10402825 10402825 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003259.3 +1 reviewed p.Y263C 0.745 24 0% 38 26.3% 4 75% possibly_damaging(0.872) deleterious(0.01) deleterious(0.745) superfamily_Immunoglobulin TSPAN16 26526 genome.wustl.edu 37 19 11411948 11411948 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012466.2 +1 reviewed p.D138 0.000 301 0% 362 33.1% 0 - - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin RAB3D 9545 genome.wustl.edu 37 19 11448018 11448018 + Missense_Mutation SNP C C T rs144965675 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004283.3 -1 validated p.D20N 1.000 163 0% 233 33% 27 33.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_SSF52540 CNN1 1264 genome.wustl.edu 37 19 11657756 11657756 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001299.4 +1 validated p.Q121R 1.000 106 0% 156 17.3% 7 0% benign(0.216) deleterious(0.05) neutral(0.366) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain WDR83 84292 genome.wustl.edu 37 19 12786340 12786340 + Missense_Mutation SNP G G C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001099737.2 +1 reviewed p.A268P 0.553 43 0% 61 24.6% 15 20% benign(0) tolerated(0.21) neutral(0.044) HMMSmart_SM00320,superfamily_WD40 repeat-like DNASE2 1777 genome.wustl.edu 37 19 12989361 12989361 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001375.2 -1 reviewed p.Y182H 0.996 240 0% 375 33.1% 102 46% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DNase_II ZSWIM4 65249 genome.wustl.edu 37 19 13910606 13910606 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_023072.2 +1 validated p.E76K 1.000 164 0% 202 31.2% 5 40% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL SAMD1 90378 genome.wustl.edu 37 19 14200064 14200064 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138352.1 -1 provisional p.R249 0.998 227 0% 356 32.3% 52 40.3% - - - NULL LPHN1 22859 genome.wustl.edu 37 19 14281581 14281581 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001008701.2 -1 reviewed p.V103M 1.000 115 0% 118 35.6% 5 40% possibly_damaging(0.805) tolerated(0.16) neutral(0.362) HMMPfam_Gal_Lectin PKN1 5585 genome.wustl.edu 37 19 14557323 14557323 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_213560.1 +1 reviewed p.A193V 0.934 30 0% 27 40.7% 24 20.8% benign(0.007) tolerated(0.34) neutral(0.023) HMMPfam_HR1,HMMSmart_SM00742,superfamily_HR1 repeat PKN1 5585 genome.wustl.edu 37 19 14562725 14562725 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_213560.1 +1 reviewed p.G358E 0.746 87 0% 58 34.5% 16 43.7% possibly_damaging(0.49) deleterious(0.02) deleterious(0.546) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) NOTCH3 4854 genome.wustl.edu 37 19 15272434 15272434 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000435.2 -1 reviewed p.D2002G 1.000 60 0% 75 28% 73 43.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,superfamily_Ankyrin repeat NOTCH3 4854 genome.wustl.edu 37 19 15292508 15292508 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000435.2 -1 reviewed p.C891S 1.000 39 0% 36 38.9% 60 36.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin EPS15L1 58513 genome.wustl.edu 37 19 16536053 16536053 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021235.1 -1 provisional p.P211 0.016 53 0% 92 39.1% 14 71.4% - - - HMMSmart_EH,superfamily_SSF47473 NWD1 284434 genome.wustl.edu 37 19 16905361 16905361 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001007525.2 +1 validated p.A966T 0.997 219 0% 251 28.3% 1 100% benign(0.018) tolerated(0.23) neutral(0.042) superfamily_WD40 repeat-like NWD1 284434 genome.wustl.edu 37 19 16918719 16918719 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001007525.2 +1 validated p.S1218 0.005 127 0% 134 32.8% 1 0% - - - superfamily_WD40 repeat-like MYO9B 4650 genome.wustl.edu 37 19 17213222 17213222 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004145.3 +1 reviewed p.N232S 1.000 61 0% 75 42.7% 19 31.5% possibly_damaging(0.917) tolerated(0.11) deleterious(0.639) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO9B 4650 genome.wustl.edu 37 19 17320502 17320502 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004145.3 +1 reviewed p.L1911H 0.605 175 0% 193 32.6% 48 43.7% probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL ANO8 57719 genome.wustl.edu 37 19 17435671 17435671 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020959.2 -1 validated p.A1062 0.063 28 0% 36 19.4% 17 29.4% - - - NULL PGLS 25796 genome.wustl.edu 37 19 17628609 17628609 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012088.2 +1 validated p.R197* 0.918 134 0% 166 36.1% 225 17.3% - - - HMMPfam_Glucosamine_iso,superfamily_SSF100950 FCHO1 23149 genome.wustl.edu 37 19 17885228 17885228 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015122.2 +1 validated p.K287N 1.000 71 0% 83 24.1% 3 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL IL12RB1 3594 genome.wustl.edu 37 19 18174739 18174739 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005535.1 -1 reviewed p.A522V 0.929 46 0% 35 48.6% 3 33.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PIK3R2 5296 genome.wustl.edu 37 19 18272782 18272782 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005027.2 +1 validated p.E274 0.989 192 0% 256 19.1% 5 20% - - - HMMSmart_SM00324,superfamily_GTPase activation domain GAP PIK3R2 5296 genome.wustl.edu 37 19 18276972 18276972 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005027.2 +1 validated p.E473 1.000 67 0% 95 36.8% 59 44% - - - NULL KIAA1683 80726 genome.wustl.edu 37 19 18377277 18377277 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145304.1 -1 validated p.T358M 0.000 263 0% 356 36% 0 - unknown(0) tolerated(0.08) - NULL ELL 8178 genome.wustl.edu 37 19 18557131 18557131 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006532.3 -1 validated p.S564 0.823 36 0% 42 33.3% 16 50% - - - HMMPfam_Occludin_ELL NR2C2AP 126382 genome.wustl.edu 37 19 19313364 19313364 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_176880.4 -1 validated p.T50 0.014 52 0% 66 15.2% 62 17.7% - - - superfamily_Gal_bind_like NCAN 1463 genome.wustl.edu 37 19 19338349 19338349 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004386.2 +1 validated p.K640 0.043 69 0% 105 24.8% 0 - - - - NULL CILP2 148113 genome.wustl.edu 37 19 19656414 19656414 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153221.2 +1 validated p.R1020 0.000 14 0% 18 27.8% 4 75% - - - NULL ZNF85 7639 genome.wustl.edu 37 19 21132685 21132685 + Missense_Mutation SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003429.3 +1 validated p.E455D 0.498 90 0% 96 30.2% 4 25% benign(0.023) deleterious(0.01) neutral(0.407) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF208 7757 genome.wustl.edu 37 19 22154765 22154765 + Missense_Mutation SNP G G C rs191756909 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007153.3 -1 provisional p.T896S 0.997 325 0% 312 33% 0 - possibly_damaging(0.458) tolerated(0.11) neutral(0.421) superfamily_SSF57667 LOC100287226 100287226 genome.wustl.edu 37 19 22496969 22496969 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002343636.1 +1 model p.T117 0.000 23 0% 34 52.9% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22574937 22574937 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001098626.1 -1 validated p.T367I 0.000 156 0% 134 22.4% 0 - benign(0.096) tolerated(0.33) neutral(0.031) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF730 100129543 genome.wustl.edu 37 19 23329399 23329399 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_001719792.2 +1 model p.Y538C 0.033 20 0% 38 28.9% 2 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF724P 440519 genome.wustl.edu 37 19 23405577 23405577 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000418100 -1 known p.S490 0.000 40 0% 40 37.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers URI1 8725 genome.wustl.edu 37 19 30499999 30499999 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003796.2 +1 reviewed p.M258I 0.000 189 0% 210 28.6% 54 42.5% benign(0) tolerated(0.58) neutral(0.005) NULL ZNF536 9745 genome.wustl.edu 37 19 30935044 30935044 + Missense_Mutation SNP T T G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014717.1 +1 provisional p.V192G 1.000 9 0.000 20 0.200 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL ZNF507 22847 genome.wustl.edu 37 19 32873800 32873800 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001136156.1 +1 validated p.Y891 0.899 120 0% 84 33.3% 3 33.3% - - - NULL ANKRD27 84079 genome.wustl.edu 37 19 33130312 33130312 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032139.2 -1 validated p.E356K 0.996 244 0% 270 36.3% 13 61.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_VPS9,HMMSmart_VPS9,superfamily_SSF109993 KIAA0355 9710 genome.wustl.edu 37 19 34843731 34843731 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014686.3 +1 validated p.A1028 0.990 47 0% 62 14.5% 6 16.6% - - - NULL ZNF599 148103 genome.wustl.edu 37 19 35251020 35251020 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001007248.2 -1 validated p.C229F 0.962 189 0% 191 37.2% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HPN 3249 genome.wustl.edu 37 19 35551533 35551533 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002151.2 +1 reviewed p.R208Q 1.000 61 0% 70 30% 1 100% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys LGI4 163175 genome.wustl.edu 37 19 35617879 35617879 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_139284.2 -1 validated p.V224A 1.000 46 0% 46 30.4% 0 - possibly_damaging(0.922) tolerated(0.26) neutral(0.405) HMMPfam_EPTP FFAR3 2865 genome.wustl.edu 37 19 35862706 35862706 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000246538 +1 known p.V149M 0.990 187 0% 242 21.9% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_7tm_1,superfamily_SSF81321 GAPDHS 26330 genome.wustl.edu 37 19 36034283 36034283 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014364.4 +1 reviewed p.D261 0.184 91 0% 115 26.1% 0 - - - - HMMPfam_Gp_dh_C,superfamily_SSF55347 RBM42 79171 genome.wustl.edu 37 19 36124095 36124095 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024321.3 +1 provisional p.P209S 1.000 47 0% 43 25.6% 69 50.7% unknown(0) deleterious(0.01) - NULL MLL4 9757 genome.wustl.edu 37 19 36216690 36216690 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014727.1 +1 reviewed p.T1286A 1.000 74 0% 58 34.5% 12 33.3% possibly_damaging(0.45) - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD MLL4 9757 genome.wustl.edu 37 19 36224407 36224407 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014727.1 +1 reviewed p.G2319 0.676 58 0% 49 36.7% 12 50% - - - NULL MLL4 9757 genome.wustl.edu 37 19 36227817 36227817 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014727.1 +1 reviewed p.A2434 0.263 83 0% 82 30.5% 37 48.6% - - - HMMPfam_FYRC,HMMSmart_SM00542 ARHGAP33 115703 genome.wustl.edu 37 19 36278718 36278718 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_052948.3 +1 reviewed p.N923S 1.000 48 0% 39 38.5% 3 0% possibly_damaging(0.806) deleterious(0) deleterious(0.748) NULL NPHS1 4868 genome.wustl.edu 37 19 36339590 36339590 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004646.3 -1 reviewed p.R373 0.995 69 0% 91 14.3% 0 - - - - HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin KIRREL2 84063 genome.wustl.edu 37 19 36348029 36348029 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_199180.2 +1 validated p.R3M 0.944 31 0% 67 29.9% 0 - unknown(0) - - NULL APLP1 333 genome.wustl.edu 37 19 36362917 36362917 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001024807.1 +1 reviewed p.T277A 0.000 71 0% 67 34.3% 9 22.2% benign(0.001) tolerated(0.2) neutral(0.049) NULL APLP1 333 genome.wustl.edu 37 19 36364547 36364547 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001024807.1 +1 reviewed p.R330C 1.000 147 0% 191 29.8% 14 50% possibly_damaging(0.859) deleterious(0) deleterious(0.776) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein ZNF260 339324 genome.wustl.edu 37 19 37005930 37005930 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001012756.2 -1 validated p.T71A 0.001 297 0% 417 31.7% 2 50% possibly_damaging(0.7) tolerated(0.59) neutral(0.256) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF382 84911 genome.wustl.edu 37 19 37100926 37100926 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032825.3 +1 validated p.L37S 0.999 395 0% 480 29.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF569 148266 genome.wustl.edu 37 19 37905145 37905145 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_152484.2 -1 validated p.Y139H 0.003 322 0% 306 31.4% 4 50% benign(0) tolerated(0.54) neutral(0.007) NULL RYR1 6261 genome.wustl.edu 37 19 39062760 39062760 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000540.2 +1 reviewed p.A4616 0.033 143 0.7% 236 30.1% 0 - - - - HMMPfam_RR_TM4-6 ACTN4 81 genome.wustl.edu 37 19 39195619 39195619 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004924.3 +1 reviewed p.T148I 1.000 236 0% 256 26.6% 241 43.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology PAF1 54623 genome.wustl.edu 37 19 39876906 39876906 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019088.2 -1 provisional p.E441K 1.000 222 0% 267 31.5% 127 43.3% unknown(0) tolerated(0.37) - HMMPfam_Paf1 PAF1 54623 genome.wustl.edu 37 19 39881473 39881473 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019088.2 -1 provisional p.R11L 1.000 35 0% 66 13.6% 30 6.6% possibly_damaging(0.644) tolerated(0.06) deleterious(0.548) NULL SUPT5H 6829 genome.wustl.edu 37 19 39955497 39955497 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001111020.2 +1 validated p.E228D 1.000 95 0% 141 27.7% 60 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Supt5,HMMSmart_SM00738 SUPT5H 6829 genome.wustl.edu 37 19 39963058 39963058 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001111020.2 +1 validated p.V654M 1.000 130 0% 154 21.4% 58 22.4% benign(0.003) tolerated(0.15) neutral(0.241) NULL FCGBP 8857 genome.wustl.edu 37 19 40424137 40424137 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003890.2 -1 validated p.D689G 0.000 95 0% 131 18.3% 0 - benign(0.002) tolerated(0.15) neutral(0.241) HMMPfam_C8 FCGBP 8857 genome.wustl.edu 37 19 40433280 40433280 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003890.2 -1 validated p.D330G 0.997 72 0% 71 25.4% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL ZNF546 339327 genome.wustl.edu 37 19 40520656 40520656 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_178544.3 +1 validated p.G493 0.668 148 0% 203 33% 2 0% - - - superfamily_SSF57667 ENSG00000229113 0 genome.wustl.edu 37 19 42027642 42027642 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000439847 -1 known p.S214N 0.011 264 0% 251 38.2% 0 - - - - NULL ZNF526 116115 genome.wustl.edu 37 19 42729787 42729787 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_133444.1 +1 provisional p.G411D 0.014 32 0% 45 28.9% 7 71.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_C2H2 and C2HC zinc fingers GSK3A 2931 genome.wustl.edu 37 19 42736683 42736683 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019884.2 -1 validated p.R417H 1.000 164 0% 159 31.4% 161 44% benign(0.398) deleterious(0.01) deleterious(0.534) superfamily_Kinase_like MEGF8 1954 genome.wustl.edu 37 19 42856560 42856560 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001410.2 +1 validated p.H1034L 1.000 35 0% 30 53.3% 2 100% probably_damaging(0.998) tolerated(0.51) deleterious(0.483) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_SSF57196 LYPD5 284348 genome.wustl.edu 37 19 44303021 44303021 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001031749.2 -1 validated p.T105A 0.000 39 0% 39 48.7% 17 41.1% possibly_damaging(0.704) tolerated(0.28) neutral(0.285) superfamily_Snake toxin-like ZNF225 7768 genome.wustl.edu 37 19 44622657 44622657 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013362.2 +1 validated p.D55 0.001 344 0% 461 36% 0 - - - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF234 10780 genome.wustl.edu 37 19 44660711 44660711 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001144824.1 +1 validated p.C181Y 1.000 372 0% 386 25.6% 0 - benign(0.014) deleterious(0.02) neutral(0.384) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF227 7770 genome.wustl.edu 37 19 44738976 44738976 + Silent SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182490.1 +1 provisional p.L131 0.499 150 0% 169 31.4% 2 50% - - - NULL ZNF235 9310 genome.wustl.edu 37 19 44792033 44792033 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004234.4 -1 reviewed p.V519M 0.003 389 0% 360 33.1% 0 - probably_damaging(0.984) tolerated(0.1) deleterious(0.717) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP112 7771 genome.wustl.edu 37 19 44832910 44832910 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001083335.1 -1 validated p.R473H 0.000 193 0% 131 25.2% 0 - benign(0.013) tolerated(0.09) neutral(0.297) superfamily_C2H2 and C2HC zinc fingers BCAM 4059 genome.wustl.edu 37 19 45317470 45317470 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005581.3 +1 reviewed p.R282 0.035 58 0% 73 32.9% 84 35.7% - - - HMMSmart_IGc2,superfamily_SSF48726 GEMIN7 79760 genome.wustl.edu 37 19 45593627 45593627 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001007269.1 +1 reviewed p.G85 0.838 49 0% 50 24% 39 51.2% - - - NULL SYMPK 8189 genome.wustl.edu 37 19 46326057 46326057 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004819.2 -1 reviewed p.I916 0.768 189 0% 342 27.5% 63 34.9% - - - NULL SLC1A5 6510 genome.wustl.edu 37 19 47278930 47278930 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005628.2 -1 validated p.R488H 0.403 107 0% 150 24% 113 53.9% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ARHGAP35 2909 genome.wustl.edu 37 19 47422139 47422139 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004491.4 +1 reviewed p.N69 1.000 170 0% 212 34.9% 3 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC114 93233 genome.wustl.edu 37 19 48806098 48806098 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144577.3 -1 validated p.A328T 0.000 71 0% 70 30% 1 100% benign(0) tolerated(0.41) neutral(0.015) NULL IZUMO1 284359 genome.wustl.edu 37 19 49245182 49245182 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182575.2 -1 validated p.T206 0.678 83 0% 91 30.8% 0 - - - - superfamily_Immunoglobulin PLEKHA4 57664 genome.wustl.edu 37 19 49362328 49362328 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020904.2 -1 validated p.R254Q 0.983 5 0.000 14 0.429 2 50% probably_damaging(0.974) tolerated(0.21) neutral(0.460) NULL PLEKHA4 57664 genome.wustl.edu 37 19 49363675 49363675 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020904.2 -1 validated p.D136 0.995 109 0% 122 32% 2 50% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SNRNP70 6625 genome.wustl.edu 37 19 49601948 49601948 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003089.4 +1 validated p.G127E 1.000 622 0% 871 32.3% 184 51% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PRR12 57479 genome.wustl.edu 37 19 50098178 50098178 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020719.1 +1 validated p.A196T 1.000 75 0% 71 40.8% 12 50% unknown(0) - - NULL SCAF1 58506 genome.wustl.edu 37 19 50154498 50154498 + Missense_Mutation SNP G G C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021228.2 +1 validated p.E284D 0.051 36 0% 52 38.5% 55 47.2% unknown(0) deleterious(0) - NULL VRK3 51231 genome.wustl.edu 37 19 50511009 50511009 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016440.3 -1 reviewed p.S122G 0.000 177 0% 246 33.7% 24 45.8% benign(0.002) tolerated(0.57) neutral(0.006) NULL NAPSA 9476 genome.wustl.edu 37 19 50862997 50862997 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004851.1 -1 reviewed p.R264H 1.000 97 0% 114 40.4% 7 71.4% possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) HMMPfam_Asp,superfamily_Pept_Aspartic POLD1 5424 genome.wustl.edu 37 19 50905736 50905736 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002691.2 +1 validated p.G262S 0.997 35 0% 50 34% 22 86.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DNA_pol_B_exo,superfamily_RNaseH_fold SYT3 84258 genome.wustl.edu 37 19 51128670 51128670 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032298.2 -1 validated p.I518 1.000 66 0% 99 33.3% 0 - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB KLK1 3816 genome.wustl.edu 37 19 51322463 51322463 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002257.2 -1 reviewed p.A259V 0.000 186 0% 251 29.5% 1 0% benign(0.001) tolerated(0.27) neutral(0.034) superfamily_Trypsin-like serine proteases KLK6 5653 genome.wustl.edu 37 19 51470491 51470491 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001012964.1 -1 reviewed p.H44R 0.832 119 0% 157 29.3% 28 39.2% benign(0.003) tolerated(1) - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases VSIG10L 147645 genome.wustl.edu 37 19 51840604 51840604 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000335624 -1 known p.R286 0.035 91 0% 56 26.8% 8 12.5% - - - NULL ZNF615 284370 genome.wustl.edu 37 19 52496202 52496202 + Silent SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198480.2 -1 provisional p.G709 0.043 399 0% 445 29.9% 2 0% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF841 284371 genome.wustl.edu 37 19 52569865 52569865 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001136499.1 -1 validated p.A424T 0.926 301 0% 361 28.8% 8 25% benign(0) tolerated(1) - superfamily_SSF57667 ZNF528 84436 genome.wustl.edu 37 19 52919440 52919440 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032423.2 +1 validated p.A445 0.010 152 0% 181 34.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF600 162966 genome.wustl.edu 37 19 53269149 53269149 + Missense_Mutation SNP A A C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198457.2 -1 validated p.N620K 0.000 307 0% 311 26.7% 25 56% possibly_damaging(0.872) tolerated(0.18) neutral(0.395) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF816 125893 genome.wustl.edu 37 19 53454709 53454709 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001031665.1 -1 validated p.K107E 0.000 357 0% 423 33.1% 6 66.6% benign(0.001) tolerated(1) - NULL VN1R4 317703 genome.wustl.edu 37 19 53770555 53770555 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173857.2 -1 validated p.K122E 0.000 221 0% 303 17.8% 0 - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_V1R,superfamily_Family A G protein-coupled receptor-like ZNF765 91661 genome.wustl.edu 37 19 53910953 53910953 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001040185.1 +1 provisional p.I49F 0.000 192 0% 211 25.6% 1 0% possibly_damaging(0.687) deleterious(0) deleterious(0.690) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) PRKCG 5582 genome.wustl.edu 37 19 54403680 54403680 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002739.3 +1 reviewed p.A461T 1.000 186 0% 178 32% 0 - benign(0.057) deleterious(0.03) neutral(0.368) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CACNG7 59284 genome.wustl.edu 37 19 54418733 54418733 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031896.3 +1 reviewed p.V133D 1.000 340 0% 398 33.2% 0 - possibly_damaging(0.867) tolerated(0.07) deleterious(0.655) HMMPfam_PMP22_Claudin TARM1 441864 genome.wustl.edu 37 19 54577337 54577337 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001135686.1 -1 provisional p.T165A 0.000 205 0% 212 25.9% 0 - benign(0.006) tolerated(0.57) neutral(0.006) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 PRPF31 26121 genome.wustl.edu 37 19 54625967 54625967 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015629.3 +1 reviewed p.T138 0.005 190 0.5% 214 37.9% 84 47.6% - - - HMMPfam_NOSIC,superfamily_Nop domain LILRA4 23547 genome.wustl.edu 37 19 54848370 54848370 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012276.3 -1 reviewed p.T333A 0.001 219 0% 288 26% 0 - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMSmart_SM00409,superfamily_Immunoglobulin LILRA1 11024 genome.wustl.edu 37 19 55106256 55106256 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006863.1 +1 provisional p.T66I 0.000 449 0% 495 28.3% 0 - possibly_damaging(0.662) tolerated(0.4) neutral(0.250) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin RDH13 112724 genome.wustl.edu 37 19 55559732 55559732 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138412.3 -1 reviewed p.V137A 1.000 50 0% 99 25.3% 34 44.1% possibly_damaging(0.454) deleterious(0) deleterious(0.593) PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains PPP6R1 22870 genome.wustl.edu 37 19 55751206 55751206 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014931.3 -1 validated p.N517 1.000 124 0% 105 38.1% 91 47.2% - - - HMMPfam_SAPS FAM71E2 284418 genome.wustl.edu 37 19 55869746 55869746 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145402.1 -1 predicted p.S830 0.000 73 0% 77 31.2% 0 - - - - NULL IL11 3589 genome.wustl.edu 37 19 55879637 55879637 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000641.2 -1 reviewed p.P124S 0.893 19 0% 20 45% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_IL11 RPL28 6158 genome.wustl.edu 37 19 55897789 55897789 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001136135.1 +1 reviewed p.K22E 1.000 134 0% 151 29.8% 3542 42.1% benign(0.007) tolerated(0.43) neutral(0.013) HMMPfam_Ribosomal_L28e NLRP9 338321 genome.wustl.edu 37 19 56244764 56244764 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_176820.2 -1 reviewed p.R145* 0.000 154 0% 176 30.1% 0 - - - - NULL NLRP5 126206 genome.wustl.edu 37 19 56538692 56538692 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153447.4 +1 reviewed p.D365N 0.056 51 0% 73 24.7% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMPfam_NACHT,superfamily_SSF52540 ZSCAN5B 342933 genome.wustl.edu 37 19 56701831 56701831 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001080456.2 -1 validated p.G285R 0.000 398 0% 583 33.3% 0 - benign(0.044) tolerated(0.17) neutral(0.061) NULL ZFP28 140612 genome.wustl.edu 37 19 57066654 57066654 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020828.1 +1 provisional p.I834F 0.044 392 0% 434 30% 0 - possibly_damaging(0.697) deleterious(0.02) deleterious(0.633) superfamily_SSF57667 ZNF71 58491 genome.wustl.edu 37 19 57133691 57133691 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021216.4 +1 validated p.R346C 0.038 117 0% 160 38.1% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF805 390980 genome.wustl.edu 37 19 57765114 57765114 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145078.1 +1 validated p.H176 1.000 170 0% 190 12.1% 1 0% unknown(0) deleterious(0) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF135 7694 genome.wustl.edu 37 19 58572974 58572974 + Silent SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000391699 +1 known p.*26L 0.175 260 0% 345 28.1% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF135 7694 genome.wustl.edu 37 19 58579348 58579348 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003436.3 +1 validated p.C499Y 0.918 175 0% 202 23.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF132 7691 genome.wustl.edu 37 19 58951176 58951176 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003433.3 -1 validated p.S5G 0.000 25 0% 34 20.6% 0 - benign(0.095) - - NULL ZNF324 25799 genome.wustl.edu 37 19 58980578 58980578 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014347.1 +1 provisional p.Y9C 1.000 139 0% 155 31.6% 6 0% probably_damaging(0.995) tolerated(0.17) deleterious(0.516) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) DEFB129 140881 genome.wustl.edu 37 20 210316 210316 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080831.2 +1 validated p.S152 0.000 341 0% 516 31.4% 0 - - - - NULL CSNK2A1 1457 genome.wustl.edu 37 20 485865 485865 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001895.3 -1 reviewed p.D37V 1.000 392 0% 415 32.5% 34 47% possibly_damaging(0.598) deleterious(0) deleterious(0.651) superfamily_Protein kinase-like (PK-like) SNPH 9751 genome.wustl.edu 37 20 1277825 1277825 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014723.2 +1 reviewed p.Y29 1.000 69 0% 68 41.2% 4 75% - - - NULL SIRPD 128646 genome.wustl.edu 37 20 1532523 1532523 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_178460.2 -1 validated p.K79E 0.011 460 0% 446 31.4% 0 - benign(0.071) tolerated(0.72) neutral(0.007) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CPXM1 56265 genome.wustl.edu 37 20 2776025 2776025 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019609.4 -1 reviewed p.F586 0.987 163 0% 236 20.3% 9 0% - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases SMOX 54498 genome.wustl.edu 37 20 4167471 4167471 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_175842.1 +1 reviewed p.A485T 1.000 161 0% 155 34.8% 4 75% benign(0.355) tolerated(0.23) neutral(0.154) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain PRND 23627 genome.wustl.edu 37 20 4705253 4705253 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012409.2 +1 reviewed p.S19N 0.292 32 0% 32 28.1% 0 - possibly_damaging(0.557) deleterious(0) deleterious(0.635) NULL PRNT 149830 genome.wustl.edu 37 20 4713121 4713121 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000326539 -1 known p.A68T 0.001 199 0% 332 31.6% 0 - benign(0.355) deleterious(0) deleterious(0.557) NULL PLCB1 23236 genome.wustl.edu 37 20 8717719 8717719 + Silent SNP C C T rs189186909 by1000genomes TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015192.2 +1 reviewed p.Y696 0.336 361 0% 290 32.1% 2 0% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TASP1 55617 genome.wustl.edu 37 20 13514675 13514675 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017714.2 -1 reviewed p.V263 0.990 182 0% 161 26.1% 4 75% - - - HMMPfam_Asparaginase_2,superfamily_SSF56235 ESF1 51575 genome.wustl.edu 37 20 13763615 13763615 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016649.3 -1 provisional p.R58C 0.995 196 0% 279 29% 4 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSRP2BP 57325 genome.wustl.edu 37 20 18163817 18163817 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020536.4 +1 reviewed p.R620H 0.708 239 0% 292 29.1% 10 10% benign(0.051) tolerated(0.34) neutral(0.026) NULL THBD 7056 genome.wustl.edu 37 20 23028961 23028961 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000361.2 -1 reviewed p.F394S 0.406 26 0% 39 17.9% 8 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin SYNDIG1 79953 genome.wustl.edu 37 20 24523789 24523789 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024893.1 +1 provisional p.A19V 0.266 82 0% 91 35.2% 0 - benign(0.001) tolerated(0.31) neutral(0.027) NULL BCL2L1 598 genome.wustl.edu 37 20 30253823 30253823 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138578.1 -1 reviewed p.N211D 1.000 151 0% 223 33.2% 240 48.3% possibly_damaging(0.685) tolerated(0.81) neutral(0.245) superfamily_Bcl-2 inhibitors of programmed cell death BPIFB2 80341 genome.wustl.edu 37 20 31596455 31596455 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_025227.1 +1 reviewed p.T25 0.050 52 0% 76 31.6% 0 - - - - superfamily_Bactericidal permeability-increasing protein BPI CBFA2T2 9139 genome.wustl.edu 37 20 32207345 32207345 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005093.3 +1 reviewed p.E157G 1.000 262 0% 260 28.8% 3 33.3% possibly_damaging(0.91) deleterious(0) deleterious(0.807) HMMPfam_TAFH,HMMSmart_SM00549 CBFA2T2 9139 genome.wustl.edu 37 20 32232290 32232290 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005093.3 +1 reviewed p.S551 0.985 62 0% 61 14.8% 13 15.3% - - - NULL NCOA6 23054 genome.wustl.edu 37 20 33345744 33345744 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014071.2 -1 reviewed p.Q269 0.002 185 0.5% 212 31.1% 15 46.6% - - - NULL MYH7B 57644 genome.wustl.edu 37 20 33576005 33576005 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020884.3 +1 reviewed p.I551 0.997 254 0% 350 29.4% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7B 57644 genome.wustl.edu 37 20 33586667 33586667 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020884.3 +1 reviewed p.S1422I 1.000 22 0% 46 43.5% 0 - benign(0.021) tolerated(0.09) neutral(0.297) HMMPfam_Myosin_tail_1 EPB41L1 2036 genome.wustl.edu 37 20 34797778 34797778 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012156.2 +1 reviewed p.P679 0.167 32 0% 40 35% 6 50% - - - NULL C20orf132 140699 genome.wustl.edu 37 20 35772143 35772143 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000400441 -1 known p.N438D 0.046 385 0.3% 437 29.3% 1 100% benign(0.059) tolerated(0.42) neutral(0.018) superfamily_ARM repeat RPRD1B 58490 genome.wustl.edu 37 20 36676795 36676795 + Missense_Mutation SNP C C G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021215.3 +1 validated p.N109K 1.000 225 0% 261 31% 3 100% benign(0.005) tolerated(0.06) neutral(0.323) HMMSmart_SM00582,HMMPfam_DUF618,superfamily_ENTH/VHS domain RALGAPB 57148 genome.wustl.edu 37 20 37128248 37128248 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020336.2 +1 validated p.S238G 1.000 296 0% 315 31.1% 5 60% possibly_damaging(0.596) deleterious(0.03) deleterious(0.571) NULL CHD6 84181 genome.wustl.edu 37 20 40050516 40050516 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032221.3 -1 reviewed p.G1587S 1.000 101 0% 108 40.7% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTPRT 11122 genome.wustl.edu 37 20 41385153 41385153 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_133170.3 -1 reviewed p.R270S 1.000 87 0% 102 34.3% 0 - possibly_damaging(0.495) tolerated(0.25) neutral(0.202) superfamily_Immunoglobulin TOX2 84969 genome.wustl.edu 37 20 42679991 42679991 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001098797.1 +1 validated p.R153W 0.997 19 0% 23 47.8% 2 0% possibly_damaging(0.893) deleterious(0.02) deleterious(0.735) NULL WFDC5 149708 genome.wustl.edu 37 20 43739418 43739418 + Splice_Site SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_145652.2 -1 reviewed e2-2 1.000 61 0% 87 46% 0 - - - - - SYS1 90196 genome.wustl.edu 37 20 43995544 43995544 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033542.2 +1 validated p.R87Q 1.000 145 1.4% 180 38.3% 70 34.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SYS1 PIGT 51604 genome.wustl.edu 37 20 44044839 44044839 + Missense_Mutation SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015937.4 +1 reviewed p.L15M 0.983 24 0% 27 22.2% 40 22.5% unknown(0) - - HMMPfam_Gpi16 UBE2C 11065 genome.wustl.edu 37 20 44444262 44444262 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007019.2 +1 reviewed p.T100M 1.000 180 0% 180 37.8% 199 41.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like ZSWIM1 90204 genome.wustl.edu 37 20 44512485 44512485 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080603.4 +1 validated p.T418 0.005 35 0% 38 26.3% 20 50% - - - NULL ZNF335 63925 genome.wustl.edu 37 20 44578026 44578026 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_022095.3 -1 reviewed p.G1255 0.998 133 0% 178 14.6% 19 21% - - - NULL LOC100287179 100287179 genome.wustl.edu 37 20 45085085 45085085 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002343708.1 -1 model p.K41E 0.020 57 0% 62 29% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF334 55713 genome.wustl.edu 37 20 45130416 45130416 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018102.3 -1 validated p.E521G 0.000 195 0% 143 32.9% 0 - benign(0.038) deleterious(0.01) neutral(0.408) superfamily_SSF57667 CSE1L 1434 genome.wustl.edu 37 20 47689117 47689117 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001316.2 +1 reviewed p.A317T 1.000 330 0% 393 30.8% 51 52.9% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Cse1,superfamily_ARM repeat STAU1 6780 genome.wustl.edu 37 20 47736559 47736559 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017453.2 -1 reviewed p.Q358R 1.000 205 0% 313 34.5% 66 46.9% possibly_damaging(0.861) tolerated(0.09) deleterious(0.629) superfamily_dsRNA-binding domain-like ZNFX1 57169 genome.wustl.edu 37 20 47865501 47865501 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021035.2 -1 validated p.R1354W 0.001 108 0% 133 32.3% 28 60.7% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL SLC9A8 23315 genome.wustl.edu 37 20 48481292 48481292 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015266.1 +1 validated p.D290V 1.000 276 0% 398 34.4% 6 66.6% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Na_H_Exchanger FAM209A 200232 genome.wustl.edu 37 20 55100887 55100887 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001012971.3 +1 validated p.G93S 0.004 153 0% 127 33.9% 0 - benign(0.08) tolerated(0.74) neutral(0.007) NULL NPEPL1 79716 genome.wustl.edu 37 20 57289643 57289643 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_024663.3 +1 validated p.A444T 1.000 96 0% 96 32.3% 59 44% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases TH1L 51497 genome.wustl.edu 37 20 57565975 57565975 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_198976.1 +1 reviewed p.A276T 1.000 59 0% 64 37.5% 62 43.5% possibly_damaging(0.49) tolerated(0.22) neutral(0.205) HMMPfam_TH1 GATA5 140628 genome.wustl.edu 37 20 61040974 61040974 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080473.4 -1 reviewed p.P277S 1.000 101 0% 118 33.9% 0 - benign(0.085) deleterious(0.01) neutral(0.412) HMMPfam_GATA,HMMSmart_ZnF_GATA,superfamily_SSF57716 C20orf166 128826 genome.wustl.edu 37 20 61167795 61167795 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_178463.3 +1 validated p.F89L 0.000 77 0% 82 19.5% 0 - unknown(0) - - NULL SLCO4A1 28231 genome.wustl.edu 37 20 61296341 61296341 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016354.3 +1 validated p.A393T 1.000 179 0% 210 21.4% 201 24.8% benign(0.016) tolerated(0.18) neutral(0.057) HMMPfam_OATP,superfamily_MFS general substrate transporter PRIC285 85441 genome.wustl.edu 37 20 62198257 62198257 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001037335.2 -1 reviewed p.W818* 1.000 22 0% 16 62.5% 15 6.6% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ABHD16B 140701 genome.wustl.edu 37 20 62492980 62492980 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080622.3 +1 validated p.W29* 1.000 7 0.000 16 0.312 8 62.5% - - - NULL ABHD16B 140701 genome.wustl.edu 37 20 62493938 62493938 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080622.3 +1 validated p.L349 0.637 10 0% 16 50% 5 0% - - - superfamily_SSF53474 IGHV1OR15-5 100384884 genome.wustl.edu 37 21 10863045 10863045 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000302092 +1 known p.Y114C 1.000 516 0% 652 14.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 TMPRSS15 5651 genome.wustl.edu 37 21 19770564 19770564 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002772.2 -1 reviewed p.D76 0.891 303 0% 214 26.2% 0 - - - - HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain LOC100288213 100288213 genome.wustl.edu 37 21 27254023 27254023 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002343739.1 +1 model p.V34I 0.095 195 0% 206 42.7% 860 47.5% - - - NULL APP 351 genome.wustl.edu 37 21 27277345 27277345 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000484.3 -1 reviewed p.T652A 1.000 322 0% 595 29.6% 781 41.9% benign(0.001) tolerated(0.44) neutral(0.013) NULL USP16 10600 genome.wustl.edu 37 21 30403058 30403058 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001032410.1 +1 reviewed p.K68 0.457 227 0% 271 12.9% 13 7.6% - - - HMMPfam_zf-UBP,HMMSmart_SM00290 CLDN17 26285 genome.wustl.edu 37 21 31538801 31538801 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012131.2 -1 reviewed p.R45 0.028 123 0% 67 25.4% 0 - - - - HMMPfam_PMP22_Claudin KRTAP6-1 337966 genome.wustl.edu 37 21 31986107 31986107 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_181602.1 -1 validated p.G39 0.877 351 0% 402 25.4% 0 - - - - NULL TIAM1 7074 genome.wustl.edu 37 21 32496998 32496998 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003253.2 -1 validated p.R1383Q 0.989 185 0% 188 37.2% 0 - possibly_damaging(0.905) deleterious(0.01) deleterious(0.765) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 SCAF4 57466 genome.wustl.edu 37 21 33057360 33057360 + Splice_Site SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020706.2 -1 reviewed e19+2 1.000 102 0% 95 32.6% 5 80% - - - - SCAF4 57466 genome.wustl.edu 37 21 33065697 33065697 + Nonsense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020706.2 -1 reviewed p.R475* 0.009 290 0% 317 33.8% 13 23% - - - superfamily_RNA-binding domain RBD MRAP 56246 genome.wustl.edu 37 21 33679007 33679007 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_178817.3 +1 reviewed p.L55F 1.000 258 0% 327 36.4% 0 - possibly_damaging(0.822) tolerated(0.33) neutral(0.335) NULL URB1 9875 genome.wustl.edu 37 21 33717062 33717062 + Nonsense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014825.2 -1 validated p.W1358* 0.990 131 0% 141 22% 6 16.6% - - - superfamily_ARM repeat GCFC1 94104 genome.wustl.edu 37 21 34123515 34123515 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016631.3 -1 reviewed p.A508T 1.000 249 0% 240 27.9% 9 22.2% benign(0.344) deleterious(0.01) deleterious(0.514) HMMPfam_GCFC DOPEY2 9980 genome.wustl.edu 37 21 37602769 37602769 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005128.2 +1 validated p.G563S 0.000 204 0% 248 30.6% 8 37.5% benign(0) tolerated(0.94) - NULL DSCAM 1826 genome.wustl.edu 37 21 41416156 41416156 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001389.3 -1 validated p.N1744 1.000 311 0% 461 29.5% 0 - - - - NULL C2CD2 25966 genome.wustl.edu 37 21 43334719 43334719 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015500.1 -1 validated p.P278S 0.000 131 0% 157 30.6% 4 100% benign(0.001) tolerated(0.6) neutral(0.004) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB ABCG1 9619 genome.wustl.edu 37 21 43705996 43705996 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004915.3 +1 reviewed p.V289I 1.000 376 0.3% 488 24% 9 22.2% benign(0.002) tolerated(1) - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCG1 9619 genome.wustl.edu 37 21 43706095 43706095 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004915.3 +1 reviewed p.A322S 0.998 306 0% 423 28.4% 7 14.2% probably_damaging(0.969) deleterious(0.04) deleterious(0.760) NULL U2AF1 7307 genome.wustl.edu 37 21 44513332 44513332 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001025203.1 -1 reviewed p.E201 0.999 61 0% 90 37.8% 226 51.3% - - - NULL AIRE 326 genome.wustl.edu 37 21 45706579 45706579 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000383.2 +1 reviewed p.G91D 0.999 52 0% 45 31.1% 0 - benign(0.07) deleterious(0.02) neutral(0.388) HMMPfam_Sp100 PFKL 5211 genome.wustl.edu 37 21 45745048 45745048 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002626.4 +1 reviewed p.C630 1.000 72 0% 89 33.7% 338 45.5% - - - HMMPfam_PFK,superfamily_Phosphofructokinase TSPEAR 54084 genome.wustl.edu 37 21 45947239 45947239 + Missense_Mutation SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_144991.2 -1 provisional p.V362D 0.246 538 0% 759 29% 0 - benign(0.017) tolerated(0.51) neutral(0.009) HMMPfam_EPTP SLC19A1 6573 genome.wustl.edu 37 21 46951607 46951607 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_194255.1 -1 validated p.D215 0.000 33 0% 48 37.5% 17 64.7% - - - HMMPfam_Folate_carrier,superfamily_MFS general substrate transporter MCM3AP 8888 genome.wustl.edu 37 21 47693340 47693340 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003906.3 -1 reviewed p.Y720H 1.000 74 0% 93 37.6% 16 68.7% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_SAC3_GANP PCNT 5116 genome.wustl.edu 37 21 47786895 47786895 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006031.5 +1 reviewed p.W1002C 0.000 132 0% 186 27.4% 2 0% benign(0.002) tolerated(0.18) neutral(0.056) NULL MICAL3 57553 genome.wustl.edu 37 22 18374263 18374263 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_015241.2 -1 provisional p.R561H 1.000 153 0.7% 187 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain DGCR2 9993 genome.wustl.edu 37 22 19052432 19052432 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005137.2 -1 reviewed p.Q159 1.000 80 0% 82 40.2% 43 51.1% - - - HMMSmart_CLECT,superfamily_C-type_lectin_fold DGCR2 9993 genome.wustl.edu 37 22 19076897 19076897 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005137.2 -1 reviewed p.D62 0.610 44 0% 76 40.8% 52 55.7% - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich SERPIND1 3053 genome.wustl.edu 37 22 21133973 21133973 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000185.3 +1 reviewed p.R125C 1.000 103 0% 106 21.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,superfamily_Serpins TOP3B 8940 genome.wustl.edu 37 22 22326262 22326262 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003935.3 -1 reviewed p.N124S 1.000 152 0% 235 35.7% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00493,HMMPfam_Toprim PRAME 23532 genome.wustl.edu 37 22 22890990 22890990 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006115.3 -1 reviewed p.S343 0.688 49 0% 44 36.4% 15 53.3% - - - superfamily_RNI-like IGLV3-10 28803 genome.wustl.edu 37 22 23154538 23154538 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000390315 +1 known p.T36M 0.000 156 0% 212 31.1% 317 0% benign(0.249) deleterious(0.03) neutral(0.390) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin GGT5 2687 genome.wustl.edu 37 22 24622121 24622121 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001099781.1 -1 reviewed p.H384 0.001 31 0% 34 26.5% 0 - - - - HMMPfam_G_glu_transpept SPECC1L 23384 genome.wustl.edu 37 22 24718298 24718298 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001145468.1 +1 validated p.C450 1.000 85 0% 136 32.4% 9 44.4% - - - NULL FAM211B 388886 genome.wustl.edu 37 22 24982245 24982245 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_207644.2 -1 validated p.D186G 1.000 53 0% 67 26.9% 25 32% benign(0.264) deleterious(0.01) neutral(0.433) superfamily_RNI-like SGSM1 129049 genome.wustl.edu 37 22 25264720 25264720 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001039948.2 +1 validated p.S397G 0.998 141 0.7% 174 27.6% 0 - benign(0.089) tolerated(0.37) neutral(0.025) NULL MN1 4330 genome.wustl.edu 37 22 28147005 28147005 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000424656 -1 known p.R72* 1.000 97 0% 131 27.5% 9 44.4% - - - NULL MN1 4330 genome.wustl.edu 37 22 28194827 28194827 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002430.2 -1 reviewed p.R569W 1.000 12 0% 10 50% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNRF3 84133 genome.wustl.edu 37 22 29444383 29444383 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032173.2 +1 validated p.R207W 0.999 140 0% 168 29.8% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box AP1B1 162 genome.wustl.edu 37 22 29747174 29747174 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001127.3 -1 reviewed p.A381T 1.000 121 0% 155 29.7% 90 52.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat SEC14L4 284904 genome.wustl.edu 37 22 30886166 30886166 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_174977.3 -1 reviewed p.V383 1.000 182 0% 373 36.7% 0 - unknown(0) - - superfamily_Supernatant protein factor (SPF) C-terminal domain OSBP2 23762 genome.wustl.edu 37 22 31091325 31091325 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_030758.3 +1 reviewed p.S143 0.000 27 0% 48 39.6% 2 100% - - - NULL SMTN 6525 genome.wustl.edu 37 22 31493037 31493037 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_134270.1 +1 reviewed p.R694C 1.000 104 0% 104 30.8% 34 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRR14L 253143 genome.wustl.edu 37 22 32111910 32111910 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_173566.2 -1 validated p.N639D 0.000 303 0% 327 33% 3 33.3% possibly_damaging(0.915) tolerated(0.27) neutral(0.400) NULL SYN3 8224 genome.wustl.edu 37 22 32914264 32914264 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003490.3 -1 reviewed p.Q459R 1.000 108 0% 145 25.5% 0 - unknown(0) tolerated(0.45) - NULL ISX 91464 genome.wustl.edu 37 22 35478540 35478540 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001008494.1 +1 validated p.T87A 0.994 111 0% 122 27% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like MYH9 4627 genome.wustl.edu 37 22 36696278 36696278 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002473.4 -1 reviewed p.S957 0.134 128 0% 185 24.3% 103 48.5% - - - NULL TST 7263 genome.wustl.edu 37 22 37414320 37414320 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003312.4 -1 reviewed p.V152I 0.000 142 0% 160 30% 57 49.1% benign(0) tolerated(0.18) neutral(0.056) superfamily_Rhodanese/Cell cycle control phosphatase TRIOBP 11078 genome.wustl.edu 37 22 38130948 38130948 + Silent SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001039141.2 +1 reviewed p.T1535 0.000 41 0% 52 36.5% 0 - - - - NULL MICALL1 85377 genome.wustl.edu 37 22 38327935 38327935 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033386.2 +1 validated p.R671C 1.000 94 0% 128 32% 64 46.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SUN2 25777 genome.wustl.edu 37 22 39134093 39134093 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000414211 -1 known p.H211Y 0.044 54 0% 58 31% 1 0% unknown(0) - - NULL NPTXR 23467 genome.wustl.edu 37 22 39222695 39222695 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014293.2 -1 reviewed p.N303S 1.000 171 0% 307 35.5% 0 - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases APOBEC3C 27350 genome.wustl.edu 37 22 39413931 39413931 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014508.2 +1 reviewed p.S112N 0.000 164 0% 230 30.4% 15 20% unknown(0) - - HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like L3MBTL2 83746 genome.wustl.edu 37 22 41605742 41605742 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_031488.4 +1 validated p.D23N 0.998 180 0% 250 33.2% 19 52.6% unknown(0) deleterious(0.03) - NULL TEF 7008 genome.wustl.edu 37 22 41790222 41790222 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003216.2 +1 reviewed p.L200F 1.000 72 0% 74 24.3% 0 - possibly_damaging(0.81) tolerated(0.16) neutral(0.364) NULL PACSIN2 11252 genome.wustl.edu 37 22 43284715 43284715 + Silent SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_007229.3 -1 reviewed p.S181 0.847 700 0% 1113 33% 56 51.7% - - - NULL PHF21B 112885 genome.wustl.edu 37 22 45312463 45312463 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_138415.3 -1 validated p.G87 1.000 42 0% 68 35.3% 0 - - - - NULL WNT7B 7477 genome.wustl.edu 37 22 46318801 46318801 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_058238.2 -1 reviewed p.H329N 1.000 58 0% 54 27.8% 32 46.8% benign(0.424) deleterious(0) deleterious(0.582) HMMPfam_wnt,HMMSmart_SM00097 CELSR1 9620 genome.wustl.edu 37 22 46768799 46768799 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014246.1 -1 reviewed p.G2580 0.951 112 0% 112 34.8% 38 60.5% - - - HMMPfam_7tm_2 PLXNB2 23654 genome.wustl.edu 37 22 50719865 50719865 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012401.2 -1 validated p.V1196M 0.206 20 0% 35 40% 625 43.3% benign(0.002) deleterious(0.04) neutral(0.349) NULL PLXNB2 23654 genome.wustl.edu 37 22 50728645 50728645 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_012401.2 -1 validated p.R123 0.000 35 0% 35 40% 170 51.1% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema CHKB 1120 genome.wustl.edu 37 22 51019897 51019897 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005198.4 -1 reviewed p.E178G 1.000 108 0% 136 36% 73 31.5% possibly_damaging(0.901) tolerated(0.08) deleterious(0.657) HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like) CRLF2 64109 genome.wustl.edu 37 X 1325329 1325329 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000381567 -1 known p.Y116H 0.002 351 0% 416 30.8% 0 - probably_damaging(0.999) tolerated(0.53) deleterious(0.498) superfamily_Fibronectin type III PNPLA4 8228 genome.wustl.edu 37 X 7889752 7889752 + Splice_Site SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142389.1 -1 reviewed e3+2 1.000 503 0% 552 17.6% 0 - - - - - KAL1 3730 genome.wustl.edu 37 X 8538694 8538694 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000216.2 -1 reviewed p.V303A 0.001 202 0% 169 34.9% 1 0% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like FAM9A 171482 genome.wustl.edu 37 X 8763186 8763186 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_174951.3 -1 validated p.G255E 0.000 211 0% 208 34.6% 0 - unknown(0) - - NULL GPR143 4935 genome.wustl.edu 37 X 9709438 9709438 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000447366 -1 known p.Y211H 0.995 263 0% 282 39% 21 9.5% - - - HMMPfam_Ocular_alb SHROOM2 357 genome.wustl.edu 37 X 9863781 9863781 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001649.2 +1 reviewed p.P611 0.000 15 0% 18 50% 2 50% - - - NULL ARHGAP6 395 genome.wustl.edu 37 X 11162284 11162284 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013427.2 -1 reviewed p.G664 0.993 87 0% 61 16.4% 0 - - - - NULL RAB9A 9367 genome.wustl.edu 37 X 13727258 13727258 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004251.3 +1 provisional p.R131 0.997 165 0% 153 29.4% 187 44.9% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ASB11 140456 genome.wustl.edu 37 X 15333674 15333674 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_080873.1 -1 reviewed p.F18 1.000 223 0% 189 32.3% 0 - - - - NULL FIGF 2277 genome.wustl.edu 37 X 15402026 15402026 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004469.2 -1 reviewed p.Y15H 0.011 313 0% 345 29.3% 0 - benign(0.001) tolerated(0.48) neutral(0.011) NULL KLHL34 257240 genome.wustl.edu 37 X 21675715 21675715 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153270.1 -1 provisional p.E64D 0.946 14 0% 19 36.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB SMS 6611 genome.wustl.edu 37 X 21995182 21995182 + Silent SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000457085 +1 known p.T203A 0.859 135 0% 114 29.8% 124 0% - - - HMMPfam_Spermine_synth DDX53 168400 genome.wustl.edu 37 X 23018494 23018494 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182699.2 +1 validated p.A107V 0.000 174 0% 147 35.4% 0 - benign(0.001) tolerated(0.27) neutral(0.034) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 DCAF8L1 139425 genome.wustl.edu 37 X 27998726 27998726 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001017930.1 -1 reviewed p.V242 0.998 99 0% 108 25% 0 - - - - HMMSmart_WD40,superfamily_WD40_like FAM47A 158724 genome.wustl.edu 37 X 34149537 34149537 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_203408.3 -1 validated p.T287A 0.016 71 0% 87 29.9% 0 - benign(0.105) tolerated(0.22) neutral(0.050) NULL CYBB 1536 genome.wustl.edu 37 X 37658213 37658213 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000397.3 +1 reviewed p.I227T 1.000 218 0% 158 34.8% 2 0% benign(0.057) deleterious(0.01) neutral(0.409) NULL ZNF157 7712 genome.wustl.edu 37 X 47272695 47272695 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_003446.3 +1 reviewed p.H408R 1.000 218 0% 241 33.6% 0 - benign(0.32) deleterious(0) deleterious(0.544) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 WDR13 64743 genome.wustl.edu 37 X 48463354 48463354 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_017883.4 +1 reviewed p.D464 0.995 65 0% 58 43.1% 158 91.7% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HDAC6 10013 genome.wustl.edu 37 X 48676754 48676754 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006044.2 +1 reviewed p.P708S 0.998 70 0% 90 33.3% 22 90.9% benign(0) tolerated(0.25) neutral(0.037) HMMPfam_Hist_deacetyl,superfamily_SSF52768 CCNB3 85417 genome.wustl.edu 37 X 50051790 50051790 + Silent SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_033031.2 +1 reviewed p.V207 0.000 109 0% 76 32.9% 0 - - - - NULL LOC100288024 100288024 genome.wustl.edu 37 X 53221942 53221942 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XM_002344194.1 +1 model p.T35A 0.962 29 0% 30 36.7% 54 37% unknown(0) - - NULL WNK3 65267 genome.wustl.edu 37 X 54319611 54319611 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020922.4 -1 reviewed p.Y615H 0.988 371 0% 379 34.3% 0 - benign(0.001) tolerated(0.86) neutral(0.001) superfamily_Kinase_like FGD1 2245 genome.wustl.edu 37 X 54475361 54475361 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004463.2 -1 reviewed p.V772I 0.890 89 0% 86 23.3% 20 0% benign(0.019) tolerated(0.22) neutral(0.043) HMMPfam_FYVE,HMMSmart_FYVE,superfamily_FYVE_PHD_ZnF RRAGB 10325 genome.wustl.edu 37 X 55748676 55748676 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016656.3 +1 validated p.A62T 1.000 455 0% 601 29.6% 4 0% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) superfamily_P-loop containing nucleoside triphosphate hydrolases UBQLN2 29978 genome.wustl.edu 37 X 56591402 56591402 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_013444.3 +1 reviewed p.T366A 1.000 74 0% 102 38.2% 45 0% possibly_damaging(0.76) tolerated(0.09) deleterious(0.578) NULL ASB12 142689 genome.wustl.edu 37 X 63444860 63444860 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_130388.2 -1 reviewed p.R215H 0.999 127 0% 104 23.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ank,superfamily_ANK ASB12 142689 genome.wustl.edu 37 X 63445357 63445357 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_130388.2 -1 reviewed p.E49 0.974 154 0% 236 28.8% 0 - - - - superfamily_ANK MSN 4478 genome.wustl.edu 37 X 64951040 64951040 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002444.2 +1 reviewed p.R180H 0.998 270 0% 295 31.2% 122 76.2% benign(0.019) deleterious(0.05) neutral(0.346) PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 IGBP1 3476 genome.wustl.edu 37 X 69366575 69366575 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001551.2 +1 reviewed p.Y192C 1.000 451 0% 565 32.9% 75 0% possibly_damaging(0.672) tolerated(0.11) deleterious(0.510) HMMPfam_TAP42 DLG3 1741 genome.wustl.edu 37 X 69712093 69712093 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021120.3 +1 reviewed p.G553R 1.000 156 0% 182 37.9% 11 100% possibly_damaging(0.598) deleterious(0) deleterious(0.651) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain MED12 9968 genome.wustl.edu 37 X 70354597 70354597 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005120.2 +1 reviewed p.V1588M 1.000 326 0% 434 30.2% 17 88.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NLGN3 54413 genome.wustl.edu 37 X 70373349 70373349 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_018977.3 +1 reviewed p.G160 1.000 264 0% 386 27.7% 1 100% - - - HMMPfam_COesterase,superfamily_SSF53474 PHKA1 5255 genome.wustl.edu 37 X 71839137 71839137 + Missense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_002637.3 -1 reviewed p.P719H 1.000 262 0% 249 10.8% 5 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PHK_AB RLIM 51132 genome.wustl.edu 37 X 73811737 73811737 + Silent SNP T T C rs113198776 TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016120.3 -1 reviewed p.S471 0.000 146 0% 164 36.6% 8 100% - - - NULL UPRT 139596 genome.wustl.edu 37 X 74520817 74520817 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000373379 +1 known p.R280 0.000 286 0% 305 29.5% 0 - - - - NULL RPS6KA6 27330 genome.wustl.edu 37 X 83361410 83361410 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_014496.4 -1 reviewed p.C443Y 1.000 386 0% 369 30.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase BTK 695 genome.wustl.edu 37 X 100614309 100614309 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000061.2 -1 reviewed p.S289N 1.000 215 0% 298 11.1% 1 0% unknown(0) tolerated(0.06) - HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 NXF5 55998 genome.wustl.edu 37 X 101096868 101096868 + Silent SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_032946.2 -1 reviewed p.P43 0.498 515 0.2% 493 28.6% 0 - - - - HMMPfam_Tap-RNA_bind,superfamily_RNA-binding domain RBD ALG13 79868 genome.wustl.edu 37 X 110980081 110980081 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000394780 +1 known p.V890E 0.589 383 0% 350 32% 13 30.7% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL ZCCHC16 340595 genome.wustl.edu 37 X 111698755 111698755 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001004308.2 +1 validated p.T267A 0.710 70 0% 73 21.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL LRCH2 57631 genome.wustl.edu 37 X 114347854 114347854 + Silent SNP A A T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020871.3 -1 validated p.L741 1.000 252 0% 175 30.9% 0 - - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology LOC642357 642357 genome.wustl.edu 37 X 114937783 114937783 + RNA SNP C C A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d XR_016681.3 +1 model NULL 1.000 164 0% 184 33.2% 0 - - - - - WDR44 54521 genome.wustl.edu 37 X 117543590 117543590 + Nonsense_Mutation SNP G G T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_019045.4 +1 reviewed p.G558* 1.000 215 0% 172 31.4% 4 0% - - - superfamily_WD40 repeat-like KIAA1210 57481 genome.wustl.edu 37 X 118221157 118221157 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_020721.1 -1 validated p.M1346V 0.000 177 0% 220 32.3% 0 - benign(0.006) tolerated(0.47) neutral(0.011) NULL ZBTB33 10009 genome.wustl.edu 37 X 119388273 119388273 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_006777.3 +1 reviewed p.I335V 0.610 256 0% 243 35.4% 7 85.7% benign(0) tolerated(1) - NULL ATP1B4 23439 genome.wustl.edu 37 X 119509382 119509382 + Missense_Mutation SNP T T A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001142447.2 +1 reviewed p.Y240N 1.000 273 0% 245 22.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_K-ATPase GRIA3 2892 genome.wustl.edu 37 X 122459979 122459979 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d ENST00000264357 +1 known p.R204H 1.000 227 0% 332 27.4% 0 - probably_damaging(0.987) tolerated(0.4) neutral(0.453) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I THOC2 57187 genome.wustl.edu 37 X 122760483 122760483 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001081550.1 -1 validated p.R930C 1.000 477 0% 374 31% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BCORL1 63035 genome.wustl.edu 37 X 129189948 129189948 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_021946.3 +1 reviewed p.R1658K 0.907 101 0% 143 35% 5 100% benign(0.017) tolerated(0.76) neutral(0.002) NULL ELF4 2000 genome.wustl.edu 37 X 129208685 129208685 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001127197.1 -1 reviewed p.V40I 1.000 177 0% 223 31.4% 13 0% possibly_damaging(0.937) tolerated(0.1) deleterious(0.669) NULL RBMX2 51634 genome.wustl.edu 37 X 129546815 129546815 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_016024.2 +1 validated p.R321H 0.000 48 0% 27 25.9% 20 85% unknown(0) tolerated(0.46) - NULL HS6ST2 90161 genome.wustl.edu 37 X 131763055 131763055 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001077188.1 -1 reviewed p.V378 0.999 135 0% 149 36.9% 0 - - - - HMMPfam_HS6ST PHF6 84295 genome.wustl.edu 37 X 133527637 133527637 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001015877.1 +1 reviewed p.R116Q 1.000 410 0% 343 13.1% 12 33.3% benign(0.025) tolerated(0.49) neutral(0.011) HMMSmart_SM00249 DDX26B 203522 genome.wustl.edu 37 X 134690175 134690175 + Missense_Mutation SNP T T C novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_182540.4 +1 validated p.V381A 1.000 530 0% 528 31.8% 1 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL GPR112 139378 genome.wustl.edu 37 X 135426792 135426792 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_153834.3 +1 reviewed p.E309 0.006 312 0% 257 26.5% 0 - - - - NULL F9 2158 genome.wustl.edu 37 X 138619222 138619222 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000133.3 +1 reviewed p.N48D 0.994 242 0% 209 33.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00069,superfamily_GLA-domain UBE2NL 389898 genome.wustl.edu 37 X 142967648 142967648 + Missense_Mutation SNP C C T novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001012989.1 +1 reviewed p.A149V 1.000 318 0% 344 28.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_UBCc,superfamily_UBQ-conjugat/RWD-like MAGEA1 4100 genome.wustl.edu 37 X 152482516 152482516 + Silent SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_004988.4 -1 reviewed p.T165 0.000 276 0.4% 312 31.7% 0 - - - - HMMPfam_MAGE ATP2B3 492 genome.wustl.edu 37 X 152813327 152813327 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_001001344.2 +1 reviewed p.M331I 1.000 213 0% 370 31.1% 0 - benign(0.018) tolerated(0.49) neutral(0.011) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M PLXNB3 5365 genome.wustl.edu 37 X 153043438 153043438 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005393.2 +1 reviewed p.N1766S 1.000 85 0% 111 34.2% 0 - benign(0.082) deleterious(0) neutral(0.451) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl L1CAM 3897 genome.wustl.edu 37 X 153141287 153141287 + Missense_Mutation SNP A A G novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_000425.3 -1 reviewed p.V2A 0.979 37 0% 61 27.9% 0 - benign(0) tolerated(0.42) neutral(0.014) NULL HCFC1 3054 genome.wustl.edu 37 X 153222767 153222767 + Missense_Mutation SNP G G A novel TCGA-D1-A15X-01A-11D-A122-09 TCGA-D1-A15X-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91bb4069-0288-4eb2-b129-a8849b2cf67b b7737c77-00a4-4420-8b02-1fb007606f7d NM_005334.2 -1 reviewed p.T784M 0.999 139 0% 121 28.9% 17 70.5% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL