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 IPP 3652 genome.wustl.edu 37 1 46211848 46211848 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_005897.2 -1 reviewed p.P79L 1.000 159 0% 226 10.6% 0 - benign(0.002) tolerated(0.32) neutral(0.024) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB COL11A1 1301 genome.wustl.edu 37 1 103496724 103496724 + Missense_Mutation SNP C C A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_080629.2 -1 reviewed p.C243F 1.000 210 0% 209 14.4% 0 - unknown(0) deleterious(0) - superfamily_ConA_like_lec_gl CD5L 922 genome.wustl.edu 37 1 157805830 157805830 + Silent SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_005894.2 -1 validated p.D57 0.000 132 0% 85 10.6% 0 - - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like OR10X1 128367 genome.wustl.edu 37 1 158549479 158549479 + Missense_Mutation SNP G G T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001004477.1 -1 provisional p.L71I 0.988 200 0% 218 22.5% 0 - possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_7tm_1,superfamily_SSF81321 TNN 63923 genome.wustl.edu 37 1 175086107 175086107 + Missense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_022093.1 +1 validated p.R718W 0.002 70 0% 79 27.8% 0 - probably_damaging(0.994) deleterious(0.05) deleterious(0.797) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TDRD5 163589 genome.wustl.edu 37 1 179562901 179562901 + Missense_Mutation SNP A A G novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_173533.2 +1 provisional p.N180S 0.520 301 0% 350 12.3% 0 - benign(0.002) tolerated(0.55) neutral(0.007) NULL OR2L3 391192 genome.wustl.edu 37 1 248224010 248224010 + Silent SNP T T A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001004687.1 +1 provisional p.T9 0.240 492 0% 604 19% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR2T35 403244 genome.wustl.edu 37 1 248802195 248802195 + Missense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001001827.1 -1 provisional p.R122H 0.974 239 0% 207 22.7% 0 - possibly_damaging(0.661) deleterious(0.01) deleterious(0.639) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 ENSG00000234936 0 genome.wustl.edu 37 2 43459902 43459902 + Splice_Site SNP G G T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc ENST00000423354 +1 known NULL 1.000 105 0% 96 32.3% 45 53.3% probably_damaging(1) deleterious(0) deleterious(0.945) - CCDC142 84865 genome.wustl.edu 37 2 74708388 74708388 + Missense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_032779.3 -1 validated p.R407Q 0.000 168 0% 177 16.9% 1 0% benign(0.011) tolerated(0.37) neutral(0.019) NULL ANAPC1 64682 genome.wustl.edu 37 2 112621363 112621363 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_022662.2 -1 validated p.P314L 0.985 393 0% 403 38.2% 3 66.6% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL TNFAIP6 7130 genome.wustl.edu 37 2 152222595 152222595 + Missense_Mutation SNP G G C novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_007115.2 +1 reviewed p.W86C 1.000 366 0% 410 18.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like CXCR2 3579 genome.wustl.edu 37 2 218999763 218999763 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001557.3 +1 reviewed p.R80H 0.465 195 0% 158 20.9% 0 - benign(0.2) tolerated(0.12) neutral(0.280) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CTNNB1 1499 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001098209.1 +1 reviewed p.D32N 1.000 112 0% 124 44.4% 53 41.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RABL3 285282 genome.wustl.edu 37 3 120424908 120424908 + Missense_Mutation SNP G G C novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_173825.3 -1 validated p.R108G 1.000 233 0% 295 14.6% 3 0% benign(0.159) tolerated(0.27) neutral(0.048) superfamily_SSF52540 DNAJC13 23317 genome.wustl.edu 37 3 132213061 132213061 + Missense_Mutation SNP A A G novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_015268.3 +1 validated p.D1300G 1.000 245 0% 303 21.8% 1 0% benign(0.406) deleterious(0.01) deleterious(0.536) HMMSmart_SM00271,superfamily_ARM repeat LOC647309 647309 genome.wustl.edu 37 3 190573146 190573147 + Frame_Shift_Ins INS - - T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc XM_002342387.1 -1 model p.A74fs 1.000:1.000 - - - - - - - - - NULL GRID2 2895 genome.wustl.edu 37 4 94145885 94145885 + Missense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001510.2 +1 validated p.P362S 1.000 142 0% 171 16.4% 0 - possibly_damaging(0.864) deleterious(0.01) deleterious(0.740) HMMPfam_ANF_receptor,superfamily_SSF53822 IL31RA 133396 genome.wustl.edu 37 5 55206466 55206466 + Missense_Mutation SNP C C A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_139017.4 +1 validated p.N536K 0.082 177 0% 210 37.6% 0 - possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) HMMPfam_fn3 PIK3R1 5295 genome.wustl.edu 37 5 67589635 67589646 + In_Frame_Del DEL ATATGAAGAATA ATATGAAGAATA - novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 ATATGAAGAATA ATATGAAGAATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_181523.1 +1 reviewed p.LYEEY466in_frame_delF 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.970:1.000:1.000 - - - - - - - - - NULL CYP39A1 51302 genome.wustl.edu 37 6 46593168 46593168 + Silent SNP C C A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_016593.3 -1 reviewed p.V306 1.000 346 0% 439 20.5% 10 20% - - - HMMPfam_p450,superfamily_Cytochrome P450 EYS 346007 genome.wustl.edu 37 6 66205222 66205222 + Missense_Mutation SNP A A T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001142800.1 -1 reviewed p.L28M 0.000 155 0% 161 39.8% 0 - benign(0.14) - - NULL FGFR1OP 11116 genome.wustl.edu 37 6 167413575 167413575 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_007045.2 +1 reviewed p.A44T 1.000 337 0% 438 18.9% 6 16.6% possibly_damaging(0.88) deleterious(0.03) deleterious(0.708) NULL INTS1 26173 genome.wustl.edu 37 7 1510582 1510582 + Silent SNP G G A rs187219281 by1000genomes TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001080453.2 -1 validated p.A2119 0.729 60 0% 51 19.6% 225 42.2% - - - NULL ZNF117 51351 genome.wustl.edu 37 7 64437573 64437573 + Silent SNP C C G novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc ENST00000398695 -1 known p.L288 0.000 30 0% 46 19.6% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ADAM18 8749 genome.wustl.edu 37 8 39587427 39587427 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_014237.1 +1 reviewed p.V730I 0.006 312 0% 509 38.1% 0 - benign(0.429) tolerated(0.56) neutral(0.146) NULL CSMD3 114788 genome.wustl.edu 37 8 114186127 114186127 + Missense_Mutation SNP C C A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_198123.1 -1 validated p.C178F 1.000 107 0% 166 50.6% 0 - unknown(0) deleterious(0) - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain LRRC24 441381 genome.wustl.edu 37 8 145748668 145748668 + Missense_Mutation SNP G G T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001024678.3 -1 validated p.Q245K 0.993 21 0% 16 25% 20 10% benign(0.033) tolerated(0.79) neutral(0.003) HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like PTPRD 5789 genome.wustl.edu 37 9 8517855 8517855 + Missense_Mutation SNP C C A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_002839.3 -1 reviewed p.Q512H 1.000 222 0% 247 23.5% 0 - probably_damaging(0.954) deleterious(0.03) deleterious(0.762) HMMSmart_SM00409,superfamily_Fibronectin type III TRPM6 140803 genome.wustl.edu 37 9 77343207 77343207 + Missense_Mutation SNP G G C novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_017662.4 -1 reviewed p.N1961K 1.000 249 0% 294 27.2% 0 - probably_damaging(0.965) tolerated(1) neutral(0.407) HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like) GNAQ 2776 genome.wustl.edu 37 9 80409502 80409502 + Silent SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_002072.2 -1 provisional p.V204 1.000 207 0.5% 248 21.4% 2 50% - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF483 158399 genome.wustl.edu 37 9 114304149 114304149 + Nonsense_Mutation SNP A A T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_133464.2 +1 validated p.K312* 0.351 98 0% 145 20.7% 1 100% - - - NULL FAM208B 54906 genome.wustl.edu 37 10 5772839 5772839 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_017782.4 +1 validated p.G293R 0.955 323 0% 491 12% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MYO3A 53904 genome.wustl.edu 37 10 26414368 26414368 + Missense_Mutation SNP G G T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_017433.4 +1 reviewed p.A649S 1.000 165 0% 226 19.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 TNKS2 80351 genome.wustl.edu 37 10 93619366 93619366 + Missense_Mutation SNP G G T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_025235.3 +1 validated p.C1081F 1.000 226 0% 354 44.1% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PARP,superfamily_SSF56399 GPHA2 170589 genome.wustl.edu 37 11 64702498 64702498 + Missense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_130769.3 -1 validated p.V85I 0.620 66 0% 50 12% 0 - benign(0.002) tolerated(0.22) neutral(0.042) NULL EHBP1L1 254102 genome.wustl.edu 37 11 65359507 65359507 + Missense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001099409.1 +1 validated p.S1473L 0.998 35 0% 28 25% 56 48.2% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL FADD 8772 genome.wustl.edu 37 11 70052362 70052362 + Missense_Mutation SNP T T A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_003824.3 +1 reviewed p.L137Q 0.025 103 0% 76 36.8% 22 36.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like MMP3 4314 genome.wustl.edu 37 11 102709957 102709957 + Missense_Mutation SNP G G T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_002422.3 -1 reviewed p.S318Y 0.021 172 0% 210 35.7% 0 - benign(0) tolerated(0.59) neutral(0.004) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 KIRREL3 84623 genome.wustl.edu 37 11 126318983 126318983 + Silent SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_032531.3 -1 reviewed p.T306 0.635 130 0% 111 25.2% 0 - - - - superfamily_Immunoglobulin CHD4 1108 genome.wustl.edu 37 12 6702659 6702659 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001273.2 -1 reviewed p.R813C 1.000 177 0% 184 32.1% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases H1FNT 341567 genome.wustl.edu 37 12 48723324 48723324 + Nonsense_Mutation SNP C C T rs2732441 byCluster;byFrequency;by2Hit2Allele;by1000genomes TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_181788.1 +1 provisional p.R84* 0.005 34 0% 21 38.1% 0 - - - - NULL PTPRB 5787 genome.wustl.edu 37 12 70932782 70932782 + Missense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001109754.1 -1 reviewed p.V1931M 1.000 150 0% 247 36.4% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II ALDH1L2 160428 genome.wustl.edu 37 12 105420370 105420370 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001034173.3 -1 reviewed p.A890V 1.000 211 0% 288 26% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Aldedh,superfamily_ALDH-like LOC100289447 100289447 genome.wustl.edu 37 13 113795330 113795330 + Missense_Mutation SNP C C A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc XM_002344234.1 -1 model p.G384C 0.021 40 0% 29 41.4% 1 0% - - - NULL LRRC16B 90668 genome.wustl.edu 37 14 24529965 24529965 + Silent SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_138360.3 +1 validated p.A730 1.000 79 0% 76 15.8% 0 - - - - NULL MAX 4149 genome.wustl.edu 37 14 65543378 65543378 + Missense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_002382.3 -1 reviewed p.R100H 1.000 162 0% 138 25.4% 41 46.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C15orf2 23742 genome.wustl.edu 37 15 24921899 24921899 + Silent SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_018958.2 +1 reviewed p.P295 0.004 24 0% 14 35.7% 0 - - - - NULL AGBL1 123624 genome.wustl.edu 37 15 86838559 86838559 + Missense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_152336.2 +1 validated p.T719M 0.998 121 0% 154 35.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases SOLH 6650 genome.wustl.edu 37 16 601518 601518 + Silent SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_005632.2 +1 reviewed p.L733 1.000 32 0% 26 34.6% 13 46.1% - - - HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases CTCF 10664 genome.wustl.edu 37 16 67655479 67655479 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_006565.2 +1 reviewed p.R448* 1.000 162 0% 238 16% 8 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CTCF 10664 genome.wustl.edu 37 16 67662303 67662303 + Missense_Mutation SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_006565.2 +1 reviewed p.H517Y 1.000 129 0% 144 22.2% 18 55.5% 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 FADS6 283985 genome.wustl.edu 37 17 72877285 72877285 + Silent SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_178128.3 -1 validated p.G213 1.000 63 0% 56 33.9% 0 - - - - HMMPfam_FA_desaturase CYP4F11 57834 genome.wustl.edu 37 19 16024555 16024555 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001128932.1 -1 reviewed p.A521V 0.010 90 0% 84 36.9% 22 95.4% benign(0) tolerated(0.3) neutral(0.029) NULL LMTK3 114783 genome.wustl.edu 37 19 49001282 49001282 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001080434.1 -1 provisional p.T1044M 0.624 75 0% 65 38.5% 8 37.5% unknown(0) deleterious(0) - HMMSmart_SM00220 PRMT1 3276 genome.wustl.edu 37 19 50191498 50191498 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001536.3 +1 validated p.R371H 1.000 25 0% 21 28.6% 711 40.5% benign(0.123) deleterious(0) neutral(0.455) superfamily_S-adenosyl-L-methionine-dependent methyltransferases ZNF471 57573 genome.wustl.edu 37 19 57036157 57036157 + Missense_Mutation SNP A A G novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_020813.2 +1 validated p.K241E 1.000 105 0% 132 31.1% 1 0% possibly_damaging(0.837) deleterious(0) deleterious(0.764) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SLC5A3 6526 genome.wustl.edu 37 21 35468005 35468005 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_006933.4 +1 validated p.A170T 1.000 101 0% 147 16.3% 2 0% possibly_damaging(0.6) deleterious(0.01) deleterious(0.613) HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1 APOL1 8542 genome.wustl.edu 37 22 36651022 36651023 + Frame_Shift_Del DEL GA GA - novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_145343.2 +1 reviewed p.R24fs 0.005:0.002 - - - - - - - - - NULL ENSG00000210082 0 genome.wustl.edu 37 MT 1791 1791 + RNA SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc ENST00000387347 +1 known NULL NULL 7 0.000 8 0.875 8025 92.4% - - - - SMS 6611 genome.wustl.edu 37 X 22003307 22003307 + Missense_Mutation SNP A A T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_004595.2 +1 reviewed p.K304I 1.000 290 0% 423 18.9% 67 0% benign(0.168) deleterious(0.05) neutral(0.360) HMMPfam_Spermine_synth,superfamily_S-adenosyl-L-methionine-dependent methyltransferases LRCH2 57631 genome.wustl.edu 37 X 114398300 114398300 + Nonsense_Mutation SNP T T A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_020871.3 -1 validated p.K468* 1.000 567 0% 653 11.9% 0 - - - - NULL RBMXL3 139804 genome.wustl.edu 37 X 114426989 114426989 + Silent SNP C C T novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_001145346.1 +1 validated p.S995 0.160 49 0% 39 25.6% 0 - - - - NULL FMR1NB 158521 genome.wustl.edu 37 X 147106466 147106466 + Missense_Mutation SNP G G C novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_152578.2 +1 validated p.K238N 0.000 446 0% 548 21.7% 0 - probably_damaging(0.994) tolerated(0.46) neutral(0.464) NULL F8 2157 genome.wustl.edu 37 X 154130383 154130383 + Missense_Mutation SNP G G A novel TCGA-BS-A0T9-01A-11D-A12J-09 TCGA-BS-A0T9-10C-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx affe038f-2d3b-427b-a795-73d932eb0f59 dbed748c-dcc2-4d53-a2c5-b36c246fd9bc NM_000132.3 -1 reviewed p.L2020F 0.991 298 0% 288 37.8% 0 - probably_damaging(1) tolerated(0.24) deleterious(0.537) PatternScan_MULTICOPPER_OXIDASE1,superfamily_Cupredoxins,HMMPfam_Cu-oxidase_2