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 YRDC 79693 genome.wustl.edu 37 1 38270003 38270003 + Silent SNP G G A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_024640.3 -1 validated p.P246 0.995 50 0% 40 52.5% - - - - - HMMPfam_Sua5_yciO_yrdC,superfamily_DHBP_synth_RibB-like_a/b_dom SV2A 9900 genome.wustl.edu 37 1 149884905 149884905 + Missense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_014849.3 -1 validated p.R163H 1.000 27 0% 31 35.5% - - probably_damaging(0.993) deleterious(0.03) deleterious(0.815) superfamily_MFS general substrate transporter GABPB2 126626 genome.wustl.edu 37 1 151090640 151090640 + Missense_Mutation SNP G G A rs77707485 TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_144618.2 +1 validated p.G419R 0.766 53 0% 60 36.7% - - benign(0.001) tolerated(0.36) neutral(0.020) NULL SLC9A11 284525 genome.wustl.edu 37 1 173556830 173556830 + Missense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_178527.3 -1 validated p.R166H 0.021 94 0% 83 37.3% - - benign(0.001) tolerated(0.47) neutral(0.011) HMMPfam_Na_H_Exchanger HMCN1 83872 genome.wustl.edu 37 1 185970489 185970489 + Missense_Mutation SNP C C G novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_031935.2 +1 reviewed p.L1377V 0.437 95 0% 75 34.7% - - benign(0.032) tolerated(0.31) neutral(0.029) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin TPO 7173 genome.wustl.edu 37 2 1437319 1437319 + Missense_Mutation SNP T T C novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_000547.5 +1 reviewed p.S97P 0.004 86 0% 78 24.4% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL CAPN13 92291 genome.wustl.edu 37 2 30974078 30974078 + Missense_Mutation SNP T T G novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_144575.2 -1 validated p.Q376P 0.038 54 0% 56 33.9% - - benign(0) tolerated(0.3) neutral(0.029) superfamily_Calpain large subunit middle domain (domain III) FOXD4L1 200350 genome.wustl.edu 37 2 114257058 114257059 + In_Frame_Ins INS - - GGC novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_012184.4 +1 reviewed p.78in_frame_insG 0.000:0.003 - - - - - - - - - NULL NRP2 8828 genome.wustl.edu 37 2 206659538 206659538 + Missense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_201266.1 +1 reviewed p.S851L 0.197 61 0% 47 44.7% - - benign(0.037) tolerated(0.67) neutral(0.005) NULL ABCA12 26154 genome.wustl.edu 37 2 215851301 215851301 + Missense_Mutation SNP C C A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_173076.2 -1 reviewed p.L1376F 1.000 60 0% 48 39.6% - - probably_damaging(0.984) tolerated(1) neutral(0.430) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T rs121913279 byCluster TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_006218.2 +1 reviewed p.H1047L 1.000 55 0% 108 79.6% - - possibly_damaging(0.815) tolerated(1) neutral(0.307) HMMSmart_PI3Kc,superfamily_Kinase_like AMBN 258 genome.wustl.edu 37 4 71467327 71467327 + Missense_Mutation SNP G G A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_016519.4 +1 reviewed p.V163I 0.000 44 0% 39 43.6% - - benign(0) tolerated(0.47) neutral(0.011) HMMPfam_Amelin,HMMSmart_SM00817 FGF5 2250 genome.wustl.edu 37 4 81196107 81196107 + Nonsense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_004464.3 +1 reviewed p.R134* 1.000 163 0% 129 46.5% - - - - - HMMPfam_FGF,HMMSmart_SM00442,superfamily_Cytokine PRKG2 5593 genome.wustl.edu 37 4 82064021 82064021 + Missense_Mutation SNP G G T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_006259.1 -1 provisional p.S445Y 1.000 72 0% 52 36.5% - - benign(0) tolerated(0.6) neutral(0.004) superfamily_Kinase_like EGFLAM 133584 genome.wustl.edu 37 5 38352398 38352398 + Silent SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_152403.2 +1 validated p.S170 0.991 79 0% 71 54.9% - - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like HEATR7B2 133558 genome.wustl.edu 37 5 41004607 41004607 + Missense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_173489.4 -1 validated p.M1345I 0.000 114 0% 118 51.7% - - benign(0) tolerated(0.5) neutral(0.010) superfamily_ARM repeat BDP1 55814 genome.wustl.edu 37 5 70805897 70805897 + Missense_Mutation SNP C C G novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_018429.2 +1 reviewed p.S993C 0.001 46 2.2% 63 22.2% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL ZFYVE16 9765 genome.wustl.edu 37 5 79741150 79741150 + Missense_Mutation SNP G G T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_001105251.1 +1 validated p.D884Y 1.000 88 0% 90 40% - - probably_damaging(1) tolerated(0.29) deleterious(0.529) NULL PCDHGA8 9708 genome.wustl.edu 37 5 140773876 140773876 + Missense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_032088.1 +1 reviewed p.A499V 0.000 54 0% 71 46.5% - - benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140810920 140810920 + Silent SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_003735.2 +1 reviewed p.R198 0.969 15 0% 32 34.4% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like OR2Y1 134083 genome.wustl.edu 37 5 180166827 180166827 + Missense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_001001657.1 -1 provisional p.V78M 0.006 45 0% 56 44.6% - - benign(0.26) tolerated(0.06) neutral(0.350) HMMPfam_7tm_1,superfamily_SSF81321 ATXN1 6310 genome.wustl.edu 37 6 16326633 16326633 + Nonsense_Mutation SNP G G A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_000332.3 -1 reviewed p.R637* 1.000 54 0% 37 40.5% - - - - - HMMSmart_SM00536,HMMPfam_AXH,superfamily_AXH domain DNAH8 1769 genome.wustl.edu 37 6 38994403 38994403 + Missense_Mutation SNP T T C novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_001371.2 +1 validated p.V4382A 1.000 46 0% 41 41.5% - - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) HMMPfam_Dynein_heavy SLC25A27 9481 genome.wustl.edu 37 6 46638862 46638862 + Splice_Site SNP G G C novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_004277.3 +1 reviewed e8-1 1.000 113 0% 86 45.3% - - - - - - ZNF273 10793 genome.wustl.edu 37 7 64363689 64363689 + RNA SNP C C G novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NR_003099.1 +1 reviewed NULL 0.004 91 0% 73 43.8% - - - - - - LAMB1 3912 genome.wustl.edu 37 7 107605112 107605112 + Missense_Mutation SNP T T C novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_002291.2 -1 reviewed p.Q528R 1.000 82 0% 54 42.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin GAPVD1 26130 genome.wustl.edu 37 9 128025963 128025989 + Splice_Site DEL CAGCACTCCATCTGTAGGTATGTCTGT CAGCACTCCATCTGTAGGTATGTCTGT - rs143312600 byCluster;by1000genomes TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 CAGCACTCCATCTGTAGGTATGTCTGT CAGCACTCCATCTGTAGGTATGTCTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b ENST00000469528 +1 known NULL 1.000:1.000:1.000:1.000:1.000:0.999:0.996:0.980:0.970:0.963:0.961:0.959:0.952:0.948:0.947:0.950:0.961:0.966:0.966:0.969:0.974:0.982:0.984:0.985:0.984:0.985:0.993 - - - - - - - - - - ADAMTS13 11093 genome.wustl.edu 37 9 136308626 136308626 + Silent SNP G G T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_139025.3 +1 reviewed p.G788 0.035 7 0.000 8 0.750 - - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS20 80070 genome.wustl.edu 37 12 43777428 43777428 + Missense_Mutation SNP G G T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_025003.3 -1 validated p.S1577Y 1.000 139 0% 122 32.8% - - possibly_damaging(0.776) deleterious(0) deleterious(0.734) NULL KIF5A 3798 genome.wustl.edu 37 12 57975695 57975695 + Silent SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_004984.2 +1 reviewed p.G984 0.001 51 0% 67 46.3% - - - - - NULL SSH1 54434 genome.wustl.edu 37 12 109182529 109182529 + Missense_Mutation SNP A A C novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_018984.3 -1 validated p.N795K 0.004 46 0% 69 43.5% - - benign(0) tolerated(0.87) neutral(0.001) NULL DNAH10 196385 genome.wustl.edu 37 12 124333323 124333323 + Missense_Mutation SNP G G T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_207437.3 +1 validated p.G1881V 1.000 126 0% 92 39.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases STX2 2054 genome.wustl.edu 37 12 131293192 131293192 + Missense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_194356.1 -1 reviewed p.R113Q 0.990 69 0% 74 54.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Syntaxin,HMMSmart_SM00503,superfamily_t-snare proteins ANGEL1 23357 genome.wustl.edu 37 14 77275424 77275424 + Silent SNP G G A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_015305.3 -1 validated p.P209 0.969 50 0% 52 26.9% - - - - - NULL FBN1 2200 genome.wustl.edu 37 15 48719776 48719776 + Missense_Mutation SNP T T G novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_000138.4 -1 reviewed p.T2398P 1.000 70 0% 53 35.8% - - - - - superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases MRPS34 65993 genome.wustl.edu 37 16 1822797 1822798 + Splice_Site INS - - ACCT novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_023936.1 -1 reviewed e1+2 0.913:1.000 - - - - - - - - - - C16orf5 29965 genome.wustl.edu 37 16 4563797 4563797 + Silent SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_013399.2 -1 validated p.A47 0.997 14 0% 15 53.3% - - - - - NULL MPV17L 255027 genome.wustl.edu 37 16 15494704 15494704 + Missense_Mutation SNP A A C novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_001128423.1 +1 validated p.N124T 1.000 132 0% 115 44.3% - - benign(0.019) tolerated(0.53) neutral(0.009) HMMPfam_Mpv17_PMP22 PALB2 79728 genome.wustl.edu 37 16 23646281 23646281 + Missense_Mutation SNP G G A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_024675.3 -1 reviewed p.P529L 0.000 165 0% 142 43.7% - - benign(0) tolerated(1) - NULL ZNF267 10308 genome.wustl.edu 37 16 31926334 31926334 + Missense_Mutation SNP A A G novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_003414.4 +1 validated p.Q255R 0.021 23 0% 31 35.5% - - benign(0.048) tolerated(0.71) neutral(0.005) superfamily_C2H2 and C2HC zinc fingers CAMTA2 23125 genome.wustl.edu 37 17 4881918 4881918 + Missense_Mutation SNP A A C novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_015099.3 -1 validated p.V549G 1.000 24 0.000 5 0.800 - - possibly_damaging(0.911) deleterious(0.01) deleterious(0.768) HMMPfam_TIG,superfamily_E set domains C17orf74 201243 genome.wustl.edu 37 17 7329668 7329668 + Missense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_175734.4 +1 validated p.L120F 0.000 84 0% 53 18.9% - - possibly_damaging(0.951) tolerated(0.24) neutral(0.431) NULL TP53 7157 genome.wustl.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_000546.4 -1 reviewed p.H179R 1.000 57 0% 23 91.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 CABYR 26256 genome.wustl.edu 37 18 21735947 21735950 + Frame_Shift_Del DEL TCTC TCTC - novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 TCTC TCTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_012189.2 +1 reviewed p.V161fs 0.563:0.550:0.473:0.479 - - - - - - - - - NULL DSC1 1823 genome.wustl.edu 37 18 28725683 28725683 + Missense_Mutation SNP G G C novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_024421.2 -1 reviewed p.T277S 1.000 231 0% 157 42.7% - - possibly_damaging(0.716) tolerated(0.59) neutral(0.264) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like C18orf54 162681 genome.wustl.edu 37 18 51888267 51888267 + Missense_Mutation SNP G G A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_173529.4 +1 validated p.D180N 0.058 54 0% 49 44.9% - - benign(0.034) tolerated(0.36) neutral(0.022) NULL ATP13A1 57130 genome.wustl.edu 37 19 19770451 19770451 + Missense_Mutation SNP G G C novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_020410.2 -1 validated p.D212E 0.777 21 0% 31 45.2% - - benign(0.01) tolerated(0.63) neutral(0.004) NULL RYR1 6261 genome.wustl.edu 37 19 38939046 38939046 + Silent SNP C C A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_000540.2 +1 reviewed p.V284 0.968 25 0% 20 40% - - - - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 KLK7 5650 genome.wustl.edu 37 19 51485078 51485078 + Nonsense_Mutation SNP C C A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_005046.2 -1 reviewed p.G56* 0.105 52 0% 27 22.2% - - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZFP64 55734 genome.wustl.edu 37 20 50769218 50769218 + Missense_Mutation SNP C C A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_018197.2 -1 validated p.V505L 0.494 27 0% 24 54.2% - - benign(0.008) tolerated(0.27) neutral(0.034) NULL ADAMTS5 11096 genome.wustl.edu 37 21 28305362 28305362 + Missense_Mutation SNP G G A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_007038.3 -1 reviewed p.T564M 1.000 65 0% 44 45.5% - - probably_damaging(0.973) tolerated(0.09) deleterious(0.712) superfamily_TSP-1 type 1 repeat TSPEAR 54084 genome.wustl.edu 37 21 45987842 45987842 + Missense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_144991.2 -1 provisional p.A44T 0.000 37 0% 28 46.4% - - benign(0.001) tolerated(0.49) neutral(0.011) NULL YBEY 54059 genome.wustl.edu 37 21 47707039 47707040 + Splice_Site INS - - AAAAA rs71318058 byCluster;by1000genomes TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_058181.1 +1 validated e1+2 1.000:0.124 - - - - - - - - - - CHEK2 11200 genome.wustl.edu 37 22 29107950 29107950 + Missense_Mutation SNP C C T novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b NM_001005735.1 -1 reviewed p.A290T 1.000 123 0% 115 38.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C22orf40 150383 genome.wustl.edu 37 22 46642638 46642638 + Missense_Mutation SNP C C A novel TCGA-D1-A1NX-01A-11D-A16D-09 TCGA-D1-A1NX-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a04061f-7b84-4f8c-9409-f1165334f5d5 960f4762-e019-4e7c-bdc4-c160befcc24b ENST00000404744 -1 known p.C95F 0.001 3 0.000 4 1.000 - - unknown(0) deleterious(0) - NULL