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 SLC25A34 284723 genome.wustl.edu 37 1 16064650 16064650 + Silent SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_207348.1 +1 provisional p.G169 0.015 18 0.000 7 0.714 0 - - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr CSMD2 114784 genome.wustl.edu 37 1 33985238 33985238 + Silent SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_052896.3 -1 validated p.H3448 0.780 294 0% 152 34.2% 2 100% - - - NULL CSMD2 114784 genome.wustl.edu 37 1 34052715 34052715 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_052896.3 -1 validated p.V2306I 0.736 23 0% 31 29% 0 - benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain PTPRF 5792 genome.wustl.edu 37 1 44086249 44086249 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_002840.3 +1 reviewed p.R1788Q 1.000 121 0% 124 40.3% 366 51.6% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II B4GALT2 8704 genome.wustl.edu 37 1 44456099 44456099 + Silent SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001005417.1 +1 reviewed p.P366 0.002 165 0% 105 20% 80 27.5% - - - HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases LRRIQ3 127255 genome.wustl.edu 37 1 74507410 74507410 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001105659.1 -1 provisional p.R402Q 0.000 350 0% 297 33% 0 - possibly_damaging(0.473) deleterious(0.03) deleterious(0.520) NULL POGZ 23126 genome.wustl.edu 37 1 151381039 151381039 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_015100.2 -1 reviewed p.R694* 1.000 556 0% 566 21.2% 12 33.3% - - - NULL OR2M2 391194 genome.wustl.edu 37 1 248343317 248343317 + Silent SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001004688.1 +1 provisional p.S10 0.001 662 0.2% 539 34.7% 0 - - - - superfamily_SSF81321 CNTNAP5 129684 genome.wustl.edu 37 2 125660527 125660527 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_130773.2 +1 reviewed p.V1168I 1.000 74 0% 81 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 UBR3 130507 genome.wustl.edu 37 2 170815027 170815027 + Missense_Mutation SNP A A G novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_172070.3 +1 validated p.M1209V 1.000 375 0.3% 272 13.6% 2 50% possibly_damaging(0.794) deleterious(0.03) deleterious(0.662) NULL METTL8 79828 genome.wustl.edu 37 2 172182370 172182370 + Silent SNP T T C novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db ENST00000438609 -1 known p.S174G 0.999 32 0% 27 22.2% 4 0% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases PLEKHA3 65977 genome.wustl.edu 37 2 179365846 179365846 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_019091.3 +1 validated p.R240* 1.000 451 0% 338 22.8% 2 0% - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186696541 186696541 + Missense_Mutation SNP T T C novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db ENST00000424728 +1 known p.F6840S 1.000 108 0% 118 37.3% 0 - benign(0.004) deleterious(0) neutral(0.445) NULL CCDC108 255101 genome.wustl.edu 37 2 219892311 219892311 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db ENST00000409865 -1 known p.V747M 0.000 54 0% 28 35.7% 2 50% unknown(0) - - NULL NKTR 4820 genome.wustl.edu 37 3 42678523 42678523 + Missense_Mutation SNP A A G novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_005385.3 +1 reviewed p.K443E 0.996 218 0% 215 36.3% 2 50% unknown(0) deleterious(0.02) - NULL ZNF445 353274 genome.wustl.edu 37 3 44489433 44489433 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_181489.5 -1 validated p.A577V 0.000 153 0% 149 36.2% 1 0% benign(0.003) tolerated(0.13) neutral(0.253) NULL PIK3CA 5290 genome.wustl.edu 37 3 178916948 178916950 + In_Frame_Del DEL TCC TCC - novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_006218.2 +1 reviewed p.L113in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_SSF54236 PIGG 54872 genome.wustl.edu 37 4 520995 520995 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001127178.1 +1 validated p.R746Q 0.995 26 0% 18 44.4% 20 50% benign(0) tolerated(0.72) neutral(0.002) NULL WHSC1 7468 genome.wustl.edu 37 4 1955184 1955184 + Silent SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001042424.2 +1 reviewed p.F757 0.997 229 0% 183 29.5% 12 50% - - - HMMSmart_SM00184,HMMSmart_SM00249 KIAA1109 84162 genome.wustl.edu 37 4 123188077 123188078 + Frame_Shift_Del DEL AC AC - novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_015312.3 +1 reviewed p.T2487fs 1.000:1.000 - - - - - - - - - NULL LOC729862 729862 genome.wustl.edu 37 5 28927597 28927597 + RNA SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db XR_040872.2 +1 model NULL 0.048 17 0% 10 40% 0 - - - - - HSPA4 3308 genome.wustl.edu 37 5 132425285 132425285 + Missense_Mutation SNP G G T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_002154.3 +1 validated p.A426S 1.000 68 0% 75 24% 22 50% benign(0.036) tolerated(0.25) neutral(0.039) HMMPfam_HSP70,superfamily_SSF100920 TRPC7 57113 genome.wustl.edu 37 5 135692432 135692432 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db ENST00000513104 -1 known p.S215L 1.000 40 0% 26 23.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRP_2 UBR2 23304 genome.wustl.edu 37 6 42641554 42641554 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_015255.2 +1 reviewed p.R1371K 1.000 95 0% 88 15.9% 17 17.6% benign(0.333) deleterious(0.04) neutral(0.453) NULL SGK1 6446 genome.wustl.edu 37 6 134494209 134494209 + Missense_Mutation SNP C C A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001143676.1 -1 reviewed p.Q262H 1.000 282 0% 213 37.6% 24 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase LOC728416 728416 genome.wustl.edu 37 7 56804101 56804101 + Missense_Mutation SNP A A C rs144059673 by1000genomes TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db XM_001127426.2 -1 model p.F61L 0.064 16 0% 20 35% 0 - - - - HMMPfam_TMA7 RELN 5649 genome.wustl.edu 37 7 103236992 103236992 + Missense_Mutation SNP C C A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_005045.3 -1 reviewed p.E1150D 0.999 116 0% 121 33.9% 0 - possibly_damaging(0.882) tolerated(0.54) neutral(0.352) NULL CCDC136 64753 genome.wustl.edu 37 7 128457826 128457826 + Silent SNP C C A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_022742.3 +1 validated p.P1126 0.976 952 0% 848 14.3% 0 - - - - NULL MTPN 136319 genome.wustl.edu 37 7 135614721 135614721 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_145808.3 -1 reviewed p.A104T 1.000 247 0% 190 13.7% 31 29% unknown(0) tolerated(0.22) - superfamily_Ankyrin repeat USP17L1P 401447 genome.wustl.edu 37 8 7191381 7191381 + Silent SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db ENST00000382655 +1 known p.S491 0.000 86 0% 59 44.1% 0 - - - - NULL PDLIM2 64236 genome.wustl.edu 37 8 22442613 22442613 + Frame_Shift_Del DEL C C - novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_176871.2 +1 validated p.S134fs 0.853 - - - - - - - - - NULL COL22A1 169044 genome.wustl.edu 37 8 139890007 139890007 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_152888.1 -1 validated p.R215H 0.998 45 0% 40 32.5% 2 0% unknown(0) deleterious(0.03) - HMMSmart_SM00327,superfamily_vWA-like PRUNE2 158471 genome.wustl.edu 37 9 79259686 79259686 + Silent SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db ENST00000426088 -1 known p.R2221* 1.000 161 0% 156 33.3% 11 81.8% - - - NULL SEMA4D 10507 genome.wustl.edu 37 9 91994306 91994306 + Silent SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_006378.3 -1 validated p.T634 0.034 180 0% 218 37.6% 14 35.7% - - - HMMSmart_IG,superfamily_SSF48726 PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db ENST00000371953 +1 known p.R130G 1.000 389 0% 320 75.9% 27 74% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II FGFR2 2263 genome.wustl.edu 37 10 123325027 123325027 + Missense_Mutation SNP C C A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_022970.3 -1 reviewed p.D101Y 1.000 234 0% 200 67.5% 47 97.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 OR51T1 401665 genome.wustl.edu 37 11 4903499 4903499 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001004759.1 +1 provisional p.R151C 1.000 500 0% 433 42.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like SPRYD5 84767 genome.wustl.edu 37 11 55653041 55653041 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_032681.3 +1 validated p.T46M 0.000 89 0% 102 38.2% 0 - benign(0.002) tolerated(0.14) neutral(0.249) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box CPT1A 1374 genome.wustl.edu 37 11 68530096 68530096 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001876.3 -1 reviewed p.T625M 1.000 53 0% 42 16.7% 51 19.6% benign(0.077) deleterious(0.02) neutral(0.389) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases DYNC2H1 79659 genome.wustl.edu 37 11 103026116 103026116 + Missense_Mutation SNP G G T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001080463.1 +1 reviewed p.W1210C 1.000 95 0% 77 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 KCNA5 3741 genome.wustl.edu 37 12 5153857 5153857 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_002234.2 +1 reviewed p.G182R 1.000 74 0% 60 40% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain C3AR1 719 genome.wustl.edu 37 12 8211383 8211383 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_004054.2 -1 validated p.H467fs 0.760 - - - - - - - - - superfamily_Family A G protein-coupled receptor-like PHC1P1 653441 genome.wustl.edu 37 12 55806565 55806565 + Silent SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db ENST00000326184 -1 known p.V652 0.873 89 0% 51 41.2% 16 0% - - - NULL OR6C4 341418 genome.wustl.edu 37 12 55945194 55945194 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001005494.1 +1 provisional p.R62W 0.329 769 0% 668 37% 0 - benign(0.005) tolerated(0.05) neutral(0.345) HMMPfam_7tm_1,superfamily_SSF81321 ATXN2 6311 genome.wustl.edu 37 12 111948236 111948236 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_002973.3 -1 reviewed p.T730M 0.979 487 0% 343 14.9% 13 23% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SGCG 6445 genome.wustl.edu 37 13 23894792 23894792 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_000231.2 +1 reviewed p.R199W 0.945 21 0% 26 34.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sarcoglycan_1 ATP8A2 51761 genome.wustl.edu 37 13 26343298 26343298 + Silent SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_016529.4 +1 validated p.H833 0.004 87 0% 68 20.6% 0 - - - - superfamily_HAD-like NALCN 259232 genome.wustl.edu 37 13 101833649 101833649 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db ENST00000376196 -1 known p.A602T 0.000 114 0% 69 18.8% 0 - unknown(0) - - NULL COL4A2 1284 genome.wustl.edu 37 13 111160399 111160399 + Missense_Mutation SNP C C G novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001846.2 +1 reviewed p.A1571G 0.998 60 0% 38 39.5% 512 15% possibly_damaging(0.743) deleterious(0.02) deleterious(0.655) HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold DHRS7 51635 genome.wustl.edu 37 14 60616839 60616839 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_016029.2 -1 validated p.P234S 1.000 244 0% 230 11.7% 22 9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-binding Rossmann-fold domains SIPA1L1 26037 genome.wustl.edu 37 14 72139332 72139332 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_015556.1 +1 provisional p.P1033S 1.000 100 0% 75 36% 24 50% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) superfamily_PDZ domain-like IGHV2-5 28457 genome.wustl.edu 37 14 106494557 106494557 + Silent SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db ENST00000390597 -1 known p.T7 0.110 74 0% 81 42% 29 0% - - - NULL GSG2 83903 genome.wustl.edu 37 17 3628867 3628867 + Silent SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_031965.2 +1 validated p.S546 0.062 131 0% 114 12.3% 3 0% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) USP6 9098 genome.wustl.edu 37 17 5074102 5074102 + Silent SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_004505.2 +1 validated p.G1282 1.000 154 0% 121 35.5% 0 - - - - HMMPfam_UCH,superfamily_Cysteine proteinases TP53 7157 genome.wustl.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_000546.4 -1 reviewed p.C238F 1.000 93 0% 93 40.9% 123 42.2% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 MYO15A 51168 genome.wustl.edu 37 17 18045435 18045435 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_016239.3 +1 reviewed p.R1898* 1.000 61 0% 39 17.9% 0 - - - - HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases SPOP 8405 genome.wustl.edu 37 17 47696639 47696639 + Missense_Mutation SNP T T G novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001007226.1 -1 reviewed p.K103N 1.000 303 0% 264 75.4% 21 90.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like TANC2 26115 genome.wustl.edu 37 17 61492980 61492980 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_025185.3 +1 validated p.R1287Q 1.000 143 0% 150 12.7% 0 - possibly_damaging(0.742) tolerated(0.13) deleterious(0.524) superfamily_TPR-like KLK5 25818 genome.wustl.edu 37 19 51446942 51446942 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001077491.1 -1 reviewed p.T276M 1.000 94 0% 114 39.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZNF880 400713 genome.wustl.edu 37 19 52887246 52887247 + In_Frame_Ins INS - - CAA rs34678014 byCluster;by1000genomes TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001145434.1 +1 validated p.141in_frame_insN 0.000:0.001 - - - - - - - - - NULL INPP5J 27124 genome.wustl.edu 37 22 31523364 31523364 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001002837.1 +1 validated p.V177M 1.000 18 0.000 9 0.667 8 25% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos NLGN4X 57502 genome.wustl.edu 37 X 5821435 5821435 + Silent SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_020742.2 -1 reviewed p.A428 0.927 58 0% 46 19.6% 0 - - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases NHS 4810 genome.wustl.edu 37 X 17750487 17750487 + Missense_Mutation SNP G G A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_198270.2 +1 reviewed p.R1599Q 1.000 112 0% 87 49.4% 2 0% possibly_damaging(0.929) deleterious(0) deleterious(0.821) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64717130 64717130 + Missense_Mutation SNP C C T novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_001010888.3 +1 reviewed p.R232C 1.000 149 0% 108 38% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARR3 407 genome.wustl.edu 37 X 69500109 69500109 + Missense_Mutation SNP C C A novel TCGA-BG-A0M7-01A-11W-A062-09 TCGA-BG-A0M7-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6093cd06-411a-4fcf-9e3f-b74145de3ea2 40782819-85b9-4d4b-b8d4-5a2b993292db NM_004312.2 +1 validated p.L324M 0.997 308 0% 260 16.5% 0 - benign(0.251) tolerated(0.07) neutral(0.345) HMMPfam_Arrestin_C,superfamily_E set domains