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 CROCC 9696 genome.wustl.edu 37 1 17297200 17297200 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_014675.3 +1 validated p.R1908C 1.000 28 0% 55 29.1% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL FAM159A 348378 genome.wustl.edu 37 1 53122511 53122511 + Silent SNP G G A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001042693.1 +1 validated p.A124 0.000 103 0% 41 41.5% - - - - - NULL AMPD1 270 genome.wustl.edu 37 1 115220124 115220124 + Silent SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_000036.2 -1 reviewed p.A412 0.957 74 0% 81 42% - - - - - HMMPfam_A_deaminase,superfamily_SSF51556 FAM72A 729533 genome.wustl.edu 37 1 206141509 206141509 + Silent SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001123168.1 +1 predicted p.I72 0.949 742 0% 739 13.1% - - - - - NULL PPP2R5A 5525 genome.wustl.edu 37 1 212530627 212530627 + Splice_Site SNP G G A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_006243.2 +1 reviewed e11+1 1.000 108 0% 138 39.9% - - - - - - USH2A 7399 genome.wustl.edu 37 1 216052241 216052241 + Missense_Mutation SNP T T C novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_206933.2 -1 reviewed p.E2808G 1.000 178 0% 81 43.2% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) superfamily_Fibronectin type III TLR5 7100 genome.wustl.edu 37 1 223286142 223286142 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_003268.5 -1 reviewed p.G78R 0.998 88 0% 116 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52058 LRRTM4 80059 genome.wustl.edu 37 2 76975863 76975863 + Missense_Mutation SNP C C A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001134745.1 -1 validated p.R577S 1.000 133 0% 170 45.3% - - possibly_damaging(0.485) tolerated(0.07) deleterious(0.480) NULL FBLN2 2199 genome.wustl.edu 37 3 13613054 13613054 + Missense_Mutation SNP C C A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001004019.1 +1 reviewed p.P400Q 0.000 22 0% 53 35.8% - - benign(0.273) deleterious(0) deleterious(0.474) NULL CTNNB1 1499 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001098209.1 +1 reviewed p.D32Y 1.000 65 0% 75 41.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITIH4 3700 genome.wustl.edu 37 3 52852195 52852195 + Silent SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 ENST00000346281 -1 known p.P707 0.029 31 0% 127 41.7% - - - - - NULL OR5AC2 81050 genome.wustl.edu 37 3 97806342 97806342 + Missense_Mutation SNP G G T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_054106.1 +1 provisional p.S109I 0.024 277 0% 169 39.6% - - benign(0.032) tolerated(0.08) neutral(0.301) HMMPfam_7tm_1,superfamily_SSF81321 TSC22D2 9819 genome.wustl.edu 37 3 150176210 150176210 + Silent SNP A A G novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 ENST00000466814 +1 known p.S134G 1.000 120 0% 81 50.6% - - - - - HMMPfam_TSC22,PatternScan_TSC22 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 byCluster TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_006218.2 +1 reviewed p.E545K 1.000 53 0% 89 25.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold ADH1A 124 genome.wustl.edu 37 4 100205875 100205875 + Silent SNP G G A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_000667.2 -1 reviewed p.N115 0.000 273 0% 240 40.8% - - - - - superfamily_GroES-like,HMMPfam_ADH_N PCDHB5 26167 genome.wustl.edu 37 5 140515039 140515039 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_015669.2 +1 reviewed p.T8M 0.146 115 0% 234 41.9% - - benign(0.006) tolerated(0.15) neutral(0.241) NULL PCDHGA7 56108 genome.wustl.edu 37 5 140762918 140762918 + Missense_Mutation SNP G G A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_018920.2 +1 reviewed p.R151Q 0.099 17 0% 85 44.7% - - probably_damaging(0.971) deleterious(0.02) deleterious(0.796) HMMPfam_Cadherin,superfamily_Cadherin-like CPLX2 10814 genome.wustl.edu 37 5 175307104 175307104 + Silent SNP T T G novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 ENST00000393746 +1 known p.S135 1.000 122 0% 70 41.4% - - - - - NULL LRRC4 64101 genome.wustl.edu 37 7 127669971 127669971 + Silent SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_022143.4 -1 validated p.L241 0.937 6 0.000 25 0.480 - - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like CHRNB3 1142 genome.wustl.edu 37 8 42586852 42586852 + Silent SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_000749.3 +1 validated p.I134 0.000 50 0% 72 51.4% - - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like TMEM2 23670 genome.wustl.edu 37 9 74313084 74313084 + Silent SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_013390.2 -1 validated p.R1138 0.997 256 0% 106 34% - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 ENST00000371953 +1 known p.R130G 1.000 269 0% 148 81.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II DPYSL4 10570 genome.wustl.edu 37 10 134016262 134016262 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_006426.2 +1 validated p.A465V 0.001 18 0% 157 31.8% - - benign(0.016) tolerated(0.53) neutral(0.008) NULL OR51Q1 390061 genome.wustl.edu 37 11 5443623 5443623 + Missense_Mutation SNP C C A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001004757.2 +1 validated p.L65I 0.953 454 0% 369 37.7% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_7tm_1,superfamily_SSF81321 KCNC1 3746 genome.wustl.edu 37 11 17757767 17757767 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001112741.1 +1 reviewed p.T73M 1.000 27 0% 53 18.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain MAP3K11 4296 genome.wustl.edu 37 11 65366882 65366882 + Missense_Mutation SNP C C T rs35487354 byCluster;byFrequency;by1000genomes TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_002419.3 -1 reviewed p.R730H 0.955 4 0.000 22 0.273 - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NDUFS8 4728 genome.wustl.edu 37 11 67803940 67803940 + Missense_Mutation SNP T T G novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_002496.3 +1 reviewed p.F171L 0.678 25 0% 117 35.9% - - benign(0.271) deleterious(0.04) neutral(0.378) superfamily_alpha-helical ferredoxin MLL2 8085 genome.wustl.edu 37 12 49445284 49445294 + Frame_Shift_Del DEL GTGGCAACAGG GTGGCAACAGG - novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 GTGGCAACAGG GTGGCAACAGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_003482.3 -1 validated p.L725fs 0.995:0.991:0.997:0.987:0.000:0.002:0.013:0.012:0.021:0.014:0.015 - - - - - - - - - NULL GRIP1 23426 genome.wustl.edu 37 12 66800108 66800108 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_021150.3 -1 reviewed p.E595K 1.000 170 0% 171 41.5% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PTPRQ 374462 genome.wustl.edu 37 12 80935596 80935596 + Silent SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001145026.1 +1 validated p.P989L 0.991 19 0% 18 61.1% - - - - - NULL ABHD4 63874 genome.wustl.edu 37 14 23070609 23070609 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_022060.2 +1 validated p.R21C 1.000 204 0% 194 40.2% - - unknown(0) deleterious(0.01) - NULL HOMER2 9455 genome.wustl.edu 37 15 83544109 83544109 + Silent SNP C C T rs139619821 by1000genomes TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_199330.1 -1 reviewed p.T70 0.013 186 0.5% 144 30.6% - - - - - HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like C16orf91 283951 genome.wustl.edu 37 16 1469996 1469996 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001010878.1 -1 provisional p.R340K 0.694 39 0% 121 43.8% - - unknown(0) - - NULL SEPT12 124404 genome.wustl.edu 37 16 4829717 4829717 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_144605.3 -1 validated p.R266Q 1.000 76 0% 168 39.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases ACSM1 116285 genome.wustl.edu 37 16 20648698 20648698 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_052956.2 -1 validated p.V398I 0.008 257 0% 42 47.6% - - benign(0.067) tolerated(0.49) neutral(0.015) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like LOC100289580 100289580 genome.wustl.edu 37 16 88804925 88804925 + Frame_Shift_Del DEL C C - rs144303071 byCluster;by1000genomes TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 XM_002344125.1 +1 model p.Q42fs 0.001 - - - - - - - - - NULL SMTNL2 342527 genome.wustl.edu 37 17 4496467 4496467 + Splice_Site SNP G G T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001114974.1 +1 validated e3+1 0.999 20 0% 48 20.8% - - - - - - PLD2 5338 genome.wustl.edu 37 17 4721857 4721857 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_002663.3 +1 validated p.T693M 1.000 92 0% 233 38.2% - - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) superfamily_Phospholipase D/nuclease PROCA1 147011 genome.wustl.edu 37 17 27038587 27038587 + Splice_Site DEL C C - novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_152465.1 -1 provisional e1+1 0.131 - - - - - - - - - - RFX1 5989 genome.wustl.edu 37 19 14074787 14074787 + Silent SNP C C T rs137952654 by1000genomes TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_002918.4 -1 validated p.L748 1.000 4 0.000 15 0.600 - - - - - NULL RLN3 117579 genome.wustl.edu 37 19 14141676 14141676 + Silent SNP G G C novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_080864.2 +1 validated p.R115 0.001 28 0% 57 45.6% - - - - - HMMSmart_IlGF,superfamily_Insulin-like ARHGAP33 115703 genome.wustl.edu 37 19 36275204 36275204 + Missense_Mutation SNP G G A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_052948.3 +1 reviewed p.G518S 1.000 609 0.5% 326 11% - - probably_damaging(0.999) tolerated(0.3) deleterious(0.519) NULL IRF2BP1 26145 genome.wustl.edu 37 19 46387941 46387941 + Silent SNP G G A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_015649.1 -1 provisional p.G364 0.869 4 0.000 10 0.700 - - - - - NULL AHCY 191 genome.wustl.edu 37 20 32878605 32878605 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_000687.2 -1 reviewed p.R233Q 0.999 80 0% 117 11.1% - - possibly_damaging(0.826) deleterious(0.02) deleterious(0.697) HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like APP 351 genome.wustl.edu 37 21 27269929 27269929 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_000484.3 -1 reviewed p.E674* 0.991 250 0% 112 26.8% - - - - - NULL ARSH 347527 genome.wustl.edu 37 X 2933044 2933044 + Missense_Mutation SNP G G A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_001011719.1 +1 validated p.R125Q 0.003 196 0% 162 38.9% - - probably_damaging(0.993) tolerated(0.6) neutral(0.455) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core OGT 8473 genome.wustl.edu 37 X 70775930 70775930 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_181672.2 +1 reviewed p.R351C 1.000 252 0% 117 35.9% - - benign(0.006) tolerated(0.18) neutral(0.056) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like ACRC 93953 genome.wustl.edu 37 X 70823595 70823595 + Silent SNP G G A novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_052957.4 +1 validated p.S156 0.004 211 0% 152 43.4% - - - - - NULL RHOXF1 158800 genome.wustl.edu 37 X 119249401 119249401 + Missense_Mutation SNP G G T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_139282.1 -1 provisional p.H124Q 0.000 5 0.000 80 0.500 - - benign(0.014) tolerated(0.07) neutral(0.320) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ARHGAP36 158763 genome.wustl.edu 37 X 130217929 130217929 + Missense_Mutation SNP C C T novel TCGA-BG-A0W2-01A-11D-A117-09 TCGA-BG-A0W2-10A-01X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdce6025-d5a4-4656-a73b-f697cb62f886 746a1f76-b0c4-4187-a948-87e9baa5c521 NM_144967.3 +1 validated p.R181C 1.000 105 0% 90 43.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL