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 ARHGEF10L 55160 genome.wustl.edu 37 1 17944934 17944934 + Missense_Mutation SNP C C T rs139656107 by1000genomes TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca ENST00000375408 +1 known p.A29V 0.981 1 0.000 4 1.000 1 0% probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL ARID1A 8289 genome.wustl.edu 37 1 27105754 27105754 + Frame_Shift_Del DEL G G - novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_006015.4 +1 reviewed p.A1789fs 1.000 - - - - - - - - - NULL TTC4 7268 genome.wustl.edu 37 1 55197305 55197305 + Missense_Mutation SNP G G T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_004623.3 +1 validated p.W276C 1.000 205 0% 154 23.4% 23 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0907 22889 genome.wustl.edu 37 1 155895439 155895439 + Missense_Mutation SNP T T C novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_014949.2 -1 predicted p.M293V 1.000 128 0% 138 33.3% 15 33.3% possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) superfamily_Eukaryotic type KH-domain (KH-domain type I) KIAA1614 57710 genome.wustl.edu 37 1 180885673 180885673 + Missense_Mutation SNP A A C novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_020950.1 +1 validated p.Q145P 0.985 39 0% 60 28.3% 0 - possibly_damaging(0.901) deleterious(0) deleterious(0.801) NULL AHCTF1 25909 genome.wustl.edu 37 1 247021085 247021085 + Silent SNP G G A rs41308162 byCluster;byFrequency;by1000genomes TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_015446.4 -1 validated p.L1388 0.011 233 0% 253 28.5% 14 78.5% - - - NULL PROKR1 10887 genome.wustl.edu 37 2 68882334 68882334 + Missense_Mutation SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_138964.2 +1 validated p.E270K 1.000 92 0% 109 45% 0 - benign(0.019) deleterious(0.02) neutral(0.384) HMMPfam_7tm_1,superfamily_SSF81321 TTN 7273 genome.wustl.edu 37 2 179396559 179396559 + Missense_Mutation SNP T T A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca ENST00000356127 -1 known p.Y32358F 1.000 149 0% 93 30.1% 0 - benign(0.002) - - NULL MCM2 4171 genome.wustl.edu 37 3 127325477 127325477 + Silent SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca ENST00000491422 +1 known p.S169F 1.000 48 0% 45 24.4% 52 38.4% - - - HMMSmart_SM00350,superfamily_Nucleic acid-binding proteins PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T rs121913279 byCluster TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_006218.2 +1 reviewed p.H1047L 1.000 192 0% 82 36.6% 21 47.6% possibly_damaging(0.815) tolerated(1) neutral(0.307) HMMSmart_PI3Kc,superfamily_Kinase_like FBXW7 55294 genome.wustl.edu 37 4 153247375 153247375 + Missense_Mutation SNP C C A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_033632.2 -1 reviewed p.S476I 1.000 98 0% 72 27.8% 17 52.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 RPL37 6167 genome.wustl.edu 37 5 40834271 40834271 + Missense_Mutation SNP T T C novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca ENST00000508493 -1 known p.Y79C 0.000 385 0% 407 35.6% 0 - benign(0.036) deleterious(0.04) neutral(0.351) NULL ADAMTS6 11174 genome.wustl.edu 37 5 64510497 64510497 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca ENST00000261306 -1 known p.C850Y 1.000 24 0% 19 47.4% 1 0% benign(0.201) tolerated(0.07) neutral(0.338) NULL PCDHA13 56136 genome.wustl.edu 37 5 140263890 140263890 + Silent SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_018904.2 +1 reviewed p.S679 0.000 42 0% 51 29.4% 0 - - - - NULL AFAP1L1 134265 genome.wustl.edu 37 5 148687035 148687035 + Silent SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_152406.2 +1 validated p.P202 0.927 100 0% 93 41.9% 2 0% - - - NULL FAT2 2196 genome.wustl.edu 37 5 150911349 150911349 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_001447.2 -1 reviewed p.V3204I 0.984 58 0% 57 26.3% 0 - possibly_damaging(0.934) tolerated(0.38) neutral(0.398) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like HLA-DRB5 3127 genome.wustl.edu 37 6 32487315 32487315 + Missense_Mutation SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_002125.3 -1 reviewed p.R162W 0.144 61 0% 43 34.9% 223 7.6% benign(0.013) deleterious(0) neutral(0.445) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 TMEM151B 441151 genome.wustl.edu 37 6 44243324 44243324 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_001137560.1 +1 validated p.A254V 1.000 58 0% 40 47.5% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL POM121L12 285877 genome.wustl.edu 37 7 53103660 53103660 + Missense_Mutation SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_182595.3 +1 validated p.R99H 0.002 14 0% 18 50% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SLC25A13 10165 genome.wustl.edu 37 7 95775914 95775914 + Missense_Mutation SNP C C A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_014251.2 -1 reviewed p.S469I 1.000 57 0% 53 41.5% 28 35.7% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) superfamily_Mitoch_carrier,HMMPfam_Mito_carr AHCYL2 23382 genome.wustl.edu 37 7 129045047 129045047 + Missense_Mutation SNP C C A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_015328.2 +1 validated p.L379I 1.000 238 0% 242 15.3% 7 57.1% benign(0.027) tolerated(0.46) neutral(0.013) HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-bd,superfamily_SSF52283 CSMD1 64478 genome.wustl.edu 37 8 2966164 2966164 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_033225.5 -1 validated p.D2240N 1.000 210 0% 285 29.1% 0 - benign(0.184) tolerated(0.06) neutral(0.340) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain UNC5D 137970 genome.wustl.edu 37 8 35544126 35544126 + Missense_Mutation SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_080872.2 +1 validated p.R328Q 0.973 185 0% 210 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat RAD21 5885 genome.wustl.edu 37 8 117859871 117859871 + Silent SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_006265.2 -1 reviewed p.T588 0.941 209 0% 177 28.2% 89 40.4% - - - HMMPfam_Rad21_Rec8 CUBN 8029 genome.wustl.edu 37 10 16996473 16996473 + Silent SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_001081.3 -1 reviewed p.I1590 0.996 89 0% 67 31.3% 1 100% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PLAU 5328 genome.wustl.edu 37 10 75674570 75674570 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_002658.3 +1 reviewed p.A289V 0.992 152 0% 137 35.8% 52 26.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca ENST00000371953 +1 known p.R130Q 1.000 329 0.3% 218 28% 35 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720768 89720771 + Frame_Shift_Del DEL GAGC GAGC - novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 GAGC GAGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca ENST00000371953 +1 known p.E307fs 1.000:1.000:0.996:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 OR52I2 143502 genome.wustl.edu 37 11 4608296 4608296 + Missense_Mutation SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_001005170.2 +1 validated p.R85Q 0.166 625 0.2% 354 10.5% 0 - benign(0.002) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 SYT9 143425 genome.wustl.edu 37 11 7439352 7439352 + Missense_Mutation SNP T T C novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_175733.3 +1 validated p.Y444H 1.000 146 0% 121 26.4% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB FIBIN 387758 genome.wustl.edu 37 11 27016617 27016617 + Missense_Mutation SNP G G T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_203371.1 +1 validated p.G182W 1.000 79 0% 87 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OR5B17 219965 genome.wustl.edu 37 11 58126418 58126418 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_001005489.1 -1 validated p.G42E 0.000 104 0% 44 13.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 ZP1 22917 genome.wustl.edu 37 11 60642715 60642715 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_207341.2 +1 validated p.P590S 0.000 32 0% 35 48.6% 0 - benign(0) tolerated(0.57) neutral(0.006) NULL NADSYN1 55191 genome.wustl.edu 37 11 71174500 71174500 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_018161.4 +1 validated p.R96C 1.000 100 0% 115 27.8% 30 40% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase CS 1431 genome.wustl.edu 37 12 56669883 56669883 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_004077.2 -1 reviewed p.A229T 1.000 302 0% 318 30.5% 139 51.7% benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_Citrate_synt,superfamily_Citrate_synthase_core MYO1H 283446 genome.wustl.edu 37 12 109834218 109834218 + Missense_Mutation SNP T T G novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_001101421.3 +1 provisional p.M91R 1.000 132 0% 123 33.3% 0 - benign(0.119) deleterious(0.01) neutral(0.415) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TMEM132D 121256 genome.wustl.edu 37 12 130184852 130184852 + Silent SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_133448.2 -1 validated p.D157 0.012 46 0% 66 51.5% 0 - - - - NULL FZD10 11211 genome.wustl.edu 37 12 130648444 130648444 + Silent SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_007197.2 +1 reviewed p.F319 0.997 109 0.9% 93 26.9% 7 71.4% unknown(0) - - HMMPfam_Frizzled DYNC1H1 1778 genome.wustl.edu 37 14 102486378 102486378 + Missense_Mutation SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_001376.4 +1 reviewed p.R2831H 1.000 223 0% 201 36.3% 42 40.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 LOC283685 283685 genome.wustl.edu 37 15 23685144 23685144 + Missense_Mutation SNP T T C novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca XM_002343322.1 -1 model p.E678G 0.003 34 2.9% 35 20% 0 - - - - NULL C15orf42 90381 genome.wustl.edu 37 15 90167984 90167984 + Silent SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_152259.3 +1 validated p.N1481 0.000 151 0% 130 37.7% 7 14.2% - - - NULL SEC14L5 9717 genome.wustl.edu 37 16 5041909 5041909 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_014692.1 +1 validated p.T182M 0.352 83 0% 86 34.9% 1 100% probably_damaging(0.987) deleterious(0.05) deleterious(0.782) NULL ZNF778 197320 genome.wustl.edu 37 16 89291210 89291211 + Frame_Shift_Ins INS - - GTGA rs113560259 byCluster;by1000genomes TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca ENST00000306502 +1 known p.E40fs 0.001:0.001 - - - - - - - - - NULL GSDMA 284110 genome.wustl.edu 37 17 38122078 38122078 + Silent SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_178171.4 +1 validated p.T46 0.009 85 0% 104 33.7% 0 - - - - HMMPfam_Gasdermin SYNGR2 9144 genome.wustl.edu 37 17 76167605 76167605 + Silent SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_004710.3 +1 reviewed p.L118 1.000 181 0% 139 34.5% 308 38.6% - - - HMMPfam_MARVEL ANKRD30B 374860 genome.wustl.edu 37 18 14831449 14831449 + Missense_Mutation SNP A A T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_001145029.1 +1 validated p.T829S 0.207 177 0% 164 28.7% 0 - benign(0.073) tolerated(0.13) neutral(0.258) NULL DOCK6 57572 genome.wustl.edu 37 19 11347106 11347106 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_020812.2 -1 validated p.E770K 1.000 50 0% 55 34.5% 15 46.6% possibly_damaging(0.947) tolerated(0.07) deleterious(0.710) NULL MEGF8 1954 genome.wustl.edu 37 19 42857113 42857113 + Missense_Mutation SNP T T A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_001410.2 +1 validated p.S1061R 0.038 64 0% 74 24.3% 9 22.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_EGF SYT3 84258 genome.wustl.edu 37 19 51128445 51128445 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_032298.2 -1 validated p.V561M 0.999 33 0% 31 38.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_C2,superfamily_C2_CaLB SLCO4A1 28231 genome.wustl.edu 37 20 61303148 61303148 + Missense_Mutation SNP C C T novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_016354.3 +1 validated p.P691L 0.715 80 0% 91 27.5% 3 33.3% possibly_damaging(0.53) deleterious(0) deleterious(0.623) NULL RIMBP3 85376 genome.wustl.edu 37 22 20458045 20458045 + Missense_Mutation SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_015672.1 -1 validated p.P1086L 0.995 288 0% 374 11% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Fibronectin type III ENSG00000210082 0 genome.wustl.edu 37 MT 2652 2652 + RNA SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca ENST00000387347 +1 known NULL NULL 54 0% 94 67% 3942 76.5% - - - - BMP15 9210 genome.wustl.edu 37 X 50653946 50653946 + Missense_Mutation SNP G G A novel TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_005448.2 +1 reviewed p.E55K 0.002 102 0% 101 38.6% 0 - benign(0.001) tolerated(1) - NULL F8 2157 genome.wustl.edu 37 X 154182236 154182236 + Missense_Mutation SNP G G A rs137852428 TCGA-BK-A0CA-01A-21D-A122-09 TCGA-BK-A0CA-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a2f5b02-840a-47fe-ad59-237e5c22998b aa82dec1-c9ab-4b61-942b-5c70130b8eca NM_000132.3 -1 reviewed p.R612C 0.999 364 0% 381 33.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cupredoxins