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 ARID1A 8289 genome.wustl.edu 37 1 27087447 27087447 + Frame_Shift_Del DEL G G - novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_006015.4 +1 reviewed p.S674fs 1.000 - - - - - - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27100341 27100356 + Frame_Shift_Del DEL CAGCCCCTTCCCCAGC CAGCCCCTTCCCCAGC - novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 CAGCCCCTTCCCCAGC CAGCCCCTTCCCCAGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_006015.4 +1 reviewed p.P1353fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.784:1.000:1.000:1.000 - - - - - - - - - NULL ZMYM6 9204 genome.wustl.edu 37 1 35476599 35476599 + Silent SNP C C G novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_007167.3 -1 validated p.A367 0.171 79 0% 90 30% 1 100% - - - NULL MACF1 23499 genome.wustl.edu 37 1 39838158 39838158 + Missense_Mutation SNP T T C novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_033044.2 +1 reviewed p.L2808P 0.998 234 0% 266 40.2% 1 100% possibly_damaging(0.736) tolerated(0.09) deleterious(0.566) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SZT2 23334 genome.wustl.edu 37 1 43904382 43904382 + Missense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_015284.2 +1 predicted p.T1275M 1.000 98 0% 127 34.6% 8 37.5% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL NEGR1 257194 genome.wustl.edu 37 1 72076784 72076784 + Frame_Shift_Del DEL C C - novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_173808.2 -1 validated p.G238fs 1.000 - - - - - - - - - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 CELSR2 1952 genome.wustl.edu 37 1 109793851 109793851 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001408.2 +1 reviewed p.A384T 0.097 131 0% 165 44.2% 0 - benign(0) tolerated(1) - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin F5 2153 genome.wustl.edu 37 1 169498898 169498898 + Silent SNP T T C novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_000130.4 -1 reviewed p.R1789 0.051 343 0% 340 35.6% 0 - - - - superfamily_Cupredoxins RABGAP1L 9910 genome.wustl.edu 37 1 174210688 174210688 + Missense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_014857.3 +1 validated p.R204C 1.000 206 0% 266 38.7% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like IGFN1 91156 genome.wustl.edu 37 1 201181883 201181883 + Silent SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 ENST00000412892 +1 known p.D38 0.000 92 0% 90 35.6% 0 - benign(0.03) - - NULL USH2A 7399 genome.wustl.edu 37 1 216373152 216373152 + Missense_Mutation SNP G G T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_206933.2 -1 reviewed p.L1210M 1.000 117 0% 135 36.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases FMN2 56776 genome.wustl.edu 37 1 240371223 240371223 + Silent SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_020066.4 +1 validated p.P1037 0.004 18 0% 21 28.6% 0 - - - - HMMSmart_FH2,HMMPfam_Drf_FH1 OR2M4 26245 genome.wustl.edu 37 1 248402903 248402903 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_017504.1 +1 provisional p.V225I 0.003 202 0% 234 41.9% 0 - benign(0.155) tolerated(0.13) neutral(0.266) HMMPfam_7tm_1,superfamily_SSF81321 MXD1 4084 genome.wustl.edu 37 2 70164448 70164448 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_002357.2 +1 reviewed p.E134K 1.000 64 0% 85 29.4% 51 33.3% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) superfamily_HLH_basic BBS5 129880 genome.wustl.edu 37 2 170349400 170349400 + Missense_Mutation SNP A A C novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_152384.2 +1 reviewed p.K135Q 1.000 178 0% 296 55.4% 0 - probably_damaging(0.994) tolerated(0.18) deleterious(0.508) HMMPfam_DUF1448 COL3A1 1281 genome.wustl.edu 37 2 189856426 189856426 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_000090.3 +1 reviewed p.R310Q 1.000 137 0% 257 26.8% 515 4.2% unknown(0) tolerated(0.61) - HMMPfam_Collagen PIKFYVE 200576 genome.wustl.edu 37 2 209167007 209167007 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_015040.3 +1 reviewed p.R417H 1.000 290 0% 408 64.7% 1 100% probably_damaging(1) tolerated(0.12) deleterious(0.760) "HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" SPEG 10290 genome.wustl.edu 37 2 220347892 220347892 + Missense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_005876.4 +1 validated p.R1903W 1.000 8 0.000 10 0.600 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ROBO2 6092 genome.wustl.edu 37 3 77607268 77607268 + Nonsense_Mutation SNP G G T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_002942.3 +1 reviewed p.E469* 1.000 94 0% 116 41.4% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 byCluster TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_006218.2 +1 reviewed p.E545K 1.000 205 0% 351 67.2% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold SENP5 205564 genome.wustl.edu 37 3 196626857 196626857 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_152699.4 +1 validated p.R561H 0.926 191 0% 368 67.4% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cysteine proteinases PROM1 8842 genome.wustl.edu 37 4 16035059 16035059 + Missense_Mutation SNP A A C novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_006017.2 -1 reviewed p.V126G 1.000 237 0% 223 39% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Prominin NOA1 84273 genome.wustl.edu 37 4 57830593 57830593 + Missense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_032313.2 -1 provisional p.D622N 1.000 168 0% 182 40.7% 30 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100287782 100287782 genome.wustl.edu 37 4 99877753 99877756 + Frame_Shift_Del DEL AAAA AAAA - novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 XM_002342458.1 +1 model p.K78fs 0.064:0.068:0.071:0.074 - - - - - - - - - NULL FAT4 79633 genome.wustl.edu 37 4 126337624 126337624 + Nonsense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_024582.4 +1 validated p.R2289* 1.000 285 0.4% 342 35.1% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like RBM46 166863 genome.wustl.edu 37 4 155720561 155720563 + In_Frame_Del DEL CAA CAA - novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 CAA CAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_144979.3 +1 validated p.T418in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL UFSP2 55325 genome.wustl.edu 37 4 186339751 186339751 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_018359.3 -1 validated p.R86C 1.000 152 0% 157 42% 2 50% probably_damaging(0.983) deleterious(0.05) deleterious(0.774) NULL FAT2 2196 genome.wustl.edu 37 5 150908759 150908759 + Missense_Mutation SNP C C G novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001447.2 -1 reviewed p.V3336L 0.485 123 0% 130 42.3% 11 36.3% possibly_damaging(0.489) tolerated(0.69) neutral(0.165) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like HNRNPAB 3182 genome.wustl.edu 37 5 177636363 177636364 + Frame_Shift_Ins INS - - T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_031266.2 +1 reviewed p.Y234fs 0.994:1.000 - - - - - - - - - superfamily_SSF54928 LRFN2 57497 genome.wustl.edu 37 6 40360309 40360309 + Silent SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_020737.1 -1 provisional p.G581 0.687 12 0% 19 31.6% 13 61.5% - - - NULL STXBP5 134957 genome.wustl.edu 37 6 147646170 147646170 + Silent SNP A A G novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001127715.1 +1 reviewed p.G626 1.000 127 0% 190 62.1% 1 0% - - - NULL TCP10L2 401285 genome.wustl.edu 37 6 167585711 167585711 + Missense_Mutation SNP G G T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001145121.1 +1 inferred p.A27S 0.000 56 0% 87 32.2% 0 - benign(0.394) tolerated(0.55) neutral(0.134) NULL NOD1 10392 genome.wustl.edu 37 7 30491197 30491197 + Silent SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_006092.2 -1 reviewed p.A612 0.719 31 0% 31 32.3% 2 50% - - - NULL BMPER 168667 genome.wustl.edu 37 7 34118743 34118743 + Silent SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_133468.3 +1 validated p.A451 0.849 10 0% 10 40% 0 - - - - HMMPfam_VWD,HMMSmart_VWD TMEM213 155006 genome.wustl.edu 37 7 138486104 138486104 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001085429.1 +1 validated p.A39T 0.000 81 0% 92 42.4% 3 66.6% possibly_damaging(0.93) tolerated(0.77) neutral(0.378) NULL CYP7A1 1581 genome.wustl.edu 37 8 59409582 59409582 + Silent SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_000780.3 -1 reviewed p.T163 0.000 195 0% 320 32.5% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 SULF1 23213 genome.wustl.edu 37 8 70536308 70536308 + Missense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001128204.1 +1 validated p.R576C 1.000 61 0% 90 54.4% 67 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Alkaline_phosphatase_core PEX2 5828 genome.wustl.edu 37 8 77895794 77895794 + Silent SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_000318.2 -1 reviewed p.L207 0.981 89 0% 126 25.4% 28 39.2% - - - HMMPfam_Pex2_Pex12 WNK2 65268 genome.wustl.edu 37 9 95992058 95992058 + Silent SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 ENST00000432730 +1 known p.S250L 0.618 49 0% 46 54.3% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TBC1D2 55357 genome.wustl.edu 37 9 101006390 101006390 + Missense_Mutation SNP T T C novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_018421.3 -1 validated p.E178G 0.995 63 0% 77 42.9% 34 35.2% benign(0.167) tolerated(0.17) neutral(0.074) NULL CACNA1B 774 genome.wustl.edu 37 9 141015984 141015984 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_000718.2 +1 validated p.G2185S 0.736 55 0% 67 41.8% 0 - benign(0.039) tolerated(0.14) neutral(0.252) NULL LOC100131416 100131416 genome.wustl.edu 37 11 64877427 64877427 + Missense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 XM_001716064.2 -1 model p.V252I 0.000 17 0% 12 50% 0 - - - - NULL PELI3 246330 genome.wustl.edu 37 11 66241248 66241248 + Missense_Mutation SNP A A G novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_145065.2 +1 validated p.D231G 1.000 51 0% 60 33.3% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pellino FAT3 120114 genome.wustl.edu 37 11 92613994 92613994 + Silent SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001008781.2 +1 validated p.C4075 0.891 139 0% 164 49.4% 0 - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin ROBO4 54538 genome.wustl.edu 37 11 124763783 124763783 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_019055.5 -1 validated p.R493C 0.999 48 0% 56 39.3% 10 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T rs112445441 byCluster TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_033360.2 -1 reviewed p.G13D 1.000 254 0% 356 66% 7 57.1% 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 ACVR1B 91 genome.wustl.edu 37 12 52374786 52374786 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_004302.3 +1 reviewed p.R205Q 1.000 206 0% 258 37.2% 2 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_TGF_beta_GS,HMMSmart_SM00467,superfamily_Protein kinase-like (PK-like) LRP1 4035 genome.wustl.edu 37 12 57566958 57566958 + Silent SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_002332.2 +1 reviewed p.R1057 0.873 42 0% 43 39.5% 35 25.7% - - - NULL C12orf42 374470 genome.wustl.edu 37 12 103872202 103872202 + Missense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001099336.1 -1 validated p.M1I 0.001 368 0% 409 35.5% 0 - benign(0.004) - - NULL COL4A1 1282 genome.wustl.edu 37 13 110818594 110818594 + Missense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001845.4 -1 reviewed p.V1336I 0.000 275 0% 341 41.9% 55 0% benign(0.094) tolerated(0.4) neutral(0.023) HMMPfam_Collagen ING1 3621 genome.wustl.edu 37 13 111372025 111372025 + Nonsense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_005537.3 +1 reviewed p.R339* 0.949 34 0% 32 78.1% 150 95.3% - - - NULL DPF3 8110 genome.wustl.edu 37 14 73198520 73198520 + Missense_Mutation SNP T T C novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_012074.3 -1 provisional p.I142V 0.997 133 0% 142 37.3% 1 0% possibly_damaging(0.598) tolerated(0.29) neutral(0.236) NULL MYO1E 4643 genome.wustl.edu 37 15 59523959 59523959 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_004998.2 -1 validated p.P151L 1.000 129 0% 149 40.3% 20 45% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases BAIAP3 8938 genome.wustl.edu 37 16 1396451 1396451 + Silent SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_003933.3 +1 reviewed p.G869 0.213 48 0% 105 18.1% 3 0% - - - NULL ITGAX 3687 genome.wustl.edu 37 16 31373450 31373450 + Missense_Mutation SNP C C A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_000887.3 +1 reviewed p.L381M 0.999 172 0% 416 21.2% 0 - probably_damaging(0.994) tolerated(0.11) deleterious(0.724) superfamily_SSF69318 WSCD1 23302 genome.wustl.edu 37 17 6023636 6023636 + Silent SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_015253.1 +1 validated p.P461 0.030 53 0% 50 24% 0 - - - - superfamily_SSF52540 ASGR2 433 genome.wustl.edu 37 17 7005500 7005500 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001181.3 -1 reviewed p.H227Y 0.124 220 0% 288 42% 1 0% benign(0.008) tolerated(0.72) neutral(0.002) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ATPAF2 91647 genome.wustl.edu 37 17 17924457 17924457 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_145691.3 -1 reviewed p.R238C 0.991 46 0% 36 27.8% 83 40.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RNF112 7732 genome.wustl.edu 37 17 19318389 19318389 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_007148.4 +1 reviewed p.V390I 0.553 11 0.000 8 0.500 0 - - - - superfamily_SSF52540 KANSL1 284058 genome.wustl.edu 37 17 44110560 44110560 + Splice_Site SNP T T A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_015443.2 -1 validated e12-2 1.000 139 0% 154 40.9% 7 85.7% - - - - SPOP 8405 genome.wustl.edu 37 17 47696716 47696716 + Missense_Mutation SNP C C T novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001007226.1 -1 reviewed p.E78K 1.000 195 0% 198 42.4% 9 33.3% benign(0.02) tolerated(0.07) neutral(0.320) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like MED16 10025 genome.wustl.edu 37 19 875396 875396 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_005481.2 -1 validated p.T540M 0.995 76 0% 55 38.2% 126 38% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL KLK11 11012 genome.wustl.edu 37 19 51527512 51527512 + Missense_Mutation SNP C C A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_144947.1 -1 reviewed p.E116D 1.000 222 0% 247 44.1% 1 0% possibly_damaging(0.876) deleterious(0.01) deleterious(0.747) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SLC9A7 84679 genome.wustl.edu 37 X 46502752 46502752 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_032591.1 -1 reviewed p.T511M 1.000 105 0% 125 55.2% 35 0% possibly_damaging(0.868) deleterious(0) deleterious(0.782) HMMPfam_Na_H_Exchanger NONO 4841 genome.wustl.edu 37 X 70511818 70511818 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_001145408.1 +1 reviewed p.R115H 1.000 185 0% 276 32.2% 113 92.9% benign(0.232) deleterious(0.01) neutral(0.429) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ABCD1 215 genome.wustl.edu 37 X 152991142 152991142 + Missense_Mutation SNP G G A novel TCGA-D1-A168-01A-31D-A12J-09 TCGA-D1-A168-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 032c177b-f995-463d-aacc-b0f94d91af7c 98cf30a6-6082-4b42-8dc3-1afdb6ec3ef4 NM_000033.3 +1 reviewed p.A141T 1.000 29 0% 29 55.2% 14 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_ABC_membrane_2