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 MACF1 23499 genome.wustl.edu 37 1 39799147 39799147 + Missense_Mutation SNP G G C novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_033044.2 +1 reviewed p.G736A 1.000 184 0% 179 22.9% 0 - probably_damaging(0.983) - - HMMPfam_Plectin,HMMSmart_PLEC CD5L 922 genome.wustl.edu 37 1 157805895 157805895 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_005894.2 -1 validated p.R36W 0.912 79 0% 102 27.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like SPTA1 6708 genome.wustl.edu 37 1 158581138 158581138 + Missense_Mutation SNP C C A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_003126.2 -1 reviewed p.M2392I 1.000 283 0% 257 25.7% 0 - benign(0.081) deleterious(0) neutral(0.451) HMMPfam_efhand_Ca_insen,superfamily_EF-hand NFASC 23114 genome.wustl.edu 37 1 204938040 204938040 + Silent SNP C C T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 ENST00000367173 +1 known p.P281L 0.131 32 0% 39 20.5% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SOS1 6654 genome.wustl.edu 37 2 39281778 39281778 + Missense_Mutation SNP T T A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_005633.3 -1 reviewed p.N233Y 1.000 101 0% 75 26.7% 0 - possibly_damaging(0.647) tolerated(0.27) neutral(0.261) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) PSME4 23198 genome.wustl.edu 37 2 54152812 54152812 + Missense_Mutation SNP A A G novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_014614.2 -1 validated p.I558T 1.000 146 0% 130 30% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SLC9A2 6549 genome.wustl.edu 37 2 103321076 103321076 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_003048.3 +1 validated p.R640Q 0.983 236 0% 211 30.3% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL ARHGEF4 50649 genome.wustl.edu 37 2 131785553 131785553 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_015320.2 +1 reviewed p.A155T 0.000 27 0% 38 36.8% 0 - benign(0.001) tolerated(0.15) neutral(0.241) NULL PLA2R1 22925 genome.wustl.edu 37 2 160804059 160804059 + Missense_Mutation SNP A A G novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_007366.3 -1 validated p.S1241P 0.000 205 0% 163 33.7% 3 33.3% benign(0.143) tolerated(0.28) neutral(0.044) NULL CTNNB1 1499 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G rs121913403 byCluster TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_001098209.1 +1 reviewed p.S37C 1.000 80 0% 79 32.9% 34 17.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PIK3CA 5290 genome.wustl.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A C novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_006218.2 +1 reviewed p.Q546P 1.000 83 0% 60 31.7% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold CLDN16 10686 genome.wustl.edu 37 3 190127745 190127745 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_006580.3 +1 reviewed p.A280T 0.000 94 0% 92 23.9% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL MUC4 4585 genome.wustl.edu 37 3 195512480 195512480 + Missense_Mutation SNP A A G novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_018406.5 -1 reviewed p.S1991P 0.061 9 0.000 7 0.571 4 0% possibly_damaging(0.675) - - NULL SLC6A18 348932 genome.wustl.edu 37 5 1239640 1239640 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_182632.2 +1 validated p.G270R 1.000 63 0% 56 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF PCDHA6 56142 genome.wustl.edu 37 5 140209500 140209500 + Silent SNP G G C novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_018909.2 +1 reviewed p.S608 0.087 49 0% 62 19.4% 6 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ZFP57 346171 genome.wustl.edu 37 6 29640604 29640604 + Silent SNP G G T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_001109809.2 -1 reviewed p.V408 0.000 230 0% 247 30.4% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZBTB22 9278 genome.wustl.edu 37 6 33283317 33283317 + Silent SNP C C T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_001145338.1 -1 validated p.T459 0.000 114 0% 144 23.6% 24 37.5% - - - NULL GIMAP1 170575 genome.wustl.edu 37 7 150417390 150417393 + Frame_Shift_Del DEL GAGA GAGA - novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 GAGA GAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_130759.2 +1 reviewed p.R101fs 0.001:0.000:0.000:0.000 - - - - - - - - - HMMPfam_AIG1,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC100289453 100289453 genome.wustl.edu 37 8 42038127 42038127 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 XM_002342832.1 +1 model p.V75M 0.889 94 0% 109 33.9% 13 38.4% - - - NULL PKHD1L1 93035 genome.wustl.edu 37 8 110456917 110456917 + Missense_Mutation SNP G G C rs73700891 byCluster;by1000genomes TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_177531.4 +1 validated p.V1607L 0.980 336 0% 286 32.5% 0 - benign(0.278) tolerated(0.07) neutral(0.349) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains TLN1 7094 genome.wustl.edu 37 9 35724067 35724067 + Missense_Mutation SNP C C T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_006289.3 -1 reviewed p.D222N 1.000 230 0% 284 22.2% 4 0% benign(0.044) tolerated(0.27) neutral(0.036) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 PTEN 5728 genome.wustl.edu 37 10 89692903 89692903 + Frame_Shift_Del DEL A A - novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 ENST00000371953 +1 known p.R130fs 1.000 - - - - - - - - - HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G C rs121913292 TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 ENST00000371953 +1 known p.R130P 1.000 381 0% 355 59.4% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II LZTS2 84445 genome.wustl.edu 37 10 102763640 102763640 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_032429.1 +1 provisional p.R262Q 1.000 19 0% 23 21.7% 29 34.4% possibly_damaging(0.644) tolerated(0.44) neutral(0.238) NULL MUC5B 727897 genome.wustl.edu 37 11 1269159 1269159 + Silent SNP C C A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_002458.1 +1 validated p.P3686 0.001 36 0% 43 25.6% 18 66.6% - - - NULL OR51Q1 390061 genome.wustl.edu 37 11 5443939 5443939 + Missense_Mutation SNP T T C novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_001004757.2 +1 validated p.F170S 1.000 474 0% 542 30.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 OR8G5 219865 genome.wustl.edu 37 11 124135564 124135564 + Missense_Mutation SNP C C T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_001005198.1 +1 provisional p.S281L 0.000 272 0% 304 32.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TMEM45B 120224 genome.wustl.edu 37 11 129722531 129722531 + Missense_Mutation SNP A A G novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_138788.3 +1 provisional p.I52V 0.000 246 0% 212 30.2% 17 64.7% benign(0) tolerated(1) - NULL ZNF384 171017 genome.wustl.edu 37 12 6777070 6777072 + In_Frame_Del DEL TGC TGC - rs3835029 byCluster;by1000genomes TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_001135734.1 -1 reviewed p.Q516in_frame_del 0.291:0.350:0.379 - - - - - - - - - NULL AICDA 57379 genome.wustl.edu 37 12 8757952 8757952 + Missense_Mutation SNP C C A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_020661.2 -1 reviewed p.D96Y 0.979 82 0% 93 25.8% 0 - benign(0.029) deleterious(0.01) neutral(0.407) HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like RECQL 5965 genome.wustl.edu 37 12 21628401 21628401 + Splice_Site SNP C C A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_002907.3 -1 reviewed e9+1 1.000 157 0% 102 25.5% 0 - - - - - IFT43 112752 genome.wustl.edu 37 14 76488697 76488697 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_052873.2 +1 validated p.R59* 0.011 369 0.3% 337 25.5% 101 5.9% - - - NULL TJP1 7082 genome.wustl.edu 37 15 30012741 30012741 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_003257.3 -1 validated p.L862F 1.000 145 0% 147 31.3% 5 40% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL LRRK1 79705 genome.wustl.edu 37 15 101566296 101566296 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_024652.3 +1 validated p.G787S 0.997 74 0% 53 32.1% 3 33.3% probably_damaging(1) tolerated(0.37) deleterious(0.519) superfamily_P-loop containing nucleoside triphosphate hydrolases DECR2 26063 genome.wustl.edu 37 16 455003 455003 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_020664.3 +1 validated p.R43Q 1.000 37 0% 39 17.9% 18 16.6% probably_damaging(1) tolerated(0.23) deleterious(0.541) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains CCDC135 84229 genome.wustl.edu 37 16 57758674 57758674 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_032269.5 +1 validated p.R562H 1.000 11 0% 16 25% 41 46.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CNGB1 1258 genome.wustl.edu 37 16 57921936 57921936 + Missense_Mutation SNP G G T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_001297.4 -1 reviewed p.S1095R 0.536 78 0% 86 19.8% 0 - possibly_damaging(0.903) tolerated(0.08) deleterious(0.658) NULL EXOC3L1 283849 genome.wustl.edu 37 16 67218865 67218865 + Silent SNP G G T rs143965297 by1000genomes TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_178516.3 -1 validated p.T615 0.839 2 0.000 7 0.571 3 66.6% - - - HMMPfam_Sec6 CTU2 348180 genome.wustl.edu 37 16 88780635 88780640 + Frame_Shift_Del DEL GGTGTG GGTGTG - rs141121047 byCluster;by1000genomes TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 GGTGTG GGTGTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_001012759.1 +1 validated p.T367fs 1.000 - - - - - - - - - HMMPfam_DUF2392,superfamily_Adenine nucleotide alpha hydrolases-like DNAH9 1770 genome.wustl.edu 37 17 11757668 11757668 + Missense_Mutation SNP C C T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_001372.3 +1 reviewed p.R3286C 1.000 186 0% 198 26.3% 4 75% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL FAM59A 64762 genome.wustl.edu 37 18 29848108 29848108 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_022751.1 -1 provisional p.P785L 0.935 72 0% 70 27.1% 2 50% probably_damaging(0.98) tolerated(0.08) deleterious(0.724) NULL B3GNT3 10331 genome.wustl.edu 37 19 17922419 17922419 + Missense_Mutation SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_014256.3 +1 reviewed p.A203T 0.996 38 0% 27 29.6% 4 75% benign(0.006) tolerated(0.2) neutral(0.049) HMMPfam_Galactosyl_T ADNP 23394 genome.wustl.edu 37 20 49510055 49510056 + Frame_Shift_Ins INS - - C novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_015339.2 -1 reviewed p.A399fs 0.930:0.930 - - - - - - - - - NULL USP25 29761 genome.wustl.edu 37 21 17202857 17202857 + Silent SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 ENST00000453553 +1 known p.R96K 1.000 141 0% 130 30% 5 40% - - - superfamily_Cysteine proteinases PFKL 5211 genome.wustl.edu 37 21 45746762 45746762 + RNA SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NR_024108.1 +1 reviewed NULL 0.000 1 0.000 4 1.000 301 45.8% - - - - CYBB 1536 genome.wustl.edu 37 X 37660563 37660563 + Missense_Mutation SNP C C T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_000397.3 +1 reviewed p.R287W 0.995 543 0% 418 10.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Riboflavin synthase domain-like RPS6KA6 27330 genome.wustl.edu 37 X 83362040 83362040 + Missense_Mutation SNP C C T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_014496.4 -1 reviewed p.G374S 1.000 158 0% 107 27.1% 0 - possibly_damaging(0.948) tolerated(0.06) deleterious(0.714) HMMSmart_SM00133,HMMPfam_Pkinase_C FRMPD3 84443 genome.wustl.edu 37 X 106844948 106844948 + Missense_Mutation SNP C C T novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 XM_042978.6 +1 model p.R1260C 0.989 121 0% 134 23.9% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL MTMR1 8776 genome.wustl.edu 37 X 149901034 149901034 + Silent SNP G G A novel TCGA-AP-A0LJ-01A-11W-A062-09 TCGA-AP-A0LJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 337931ed-5f03-4a7f-add3-66ed962dca00 148c2d35-d204-4b11-9a0b-787e197481f8 NM_003828.2 +1 reviewed p.P296 0.599 143 0% 149 24.8% 0 - - - - HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II