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 ABCA4 24 genome.wustl.edu 37 1 94574255 94574255 + Missense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_000350.2 -1 reviewed p.R107Q 0.206 102 0% 87 13.8% 0 - possibly_damaging(0.759) tolerated(0.2) neutral(0.330) NULL FLAD1 80308 genome.wustl.edu 37 1 154956531 154956531 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_025207.4 +1 reviewed p.E121K 1.000 40 0% 40 72.5% 25 72% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MoCF_biosynth,superfamily_Molybdenum cofactor biosynthesis proteins AHCTF1 25909 genome.wustl.edu 37 1 247013640 247013640 + Missense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_015446.4 -1 validated p.D1890N 0.074 282 0.4% 432 15.5% 5 0% possibly_damaging(0.489) deleterious(0.01) deleterious(0.568) NULL CTNNA2 1496 genome.wustl.edu 37 2 80831288 80831288 + Missense_Mutation SNP G G C novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_004389.3 +1 validated p.R760P 1.000 210 0% 207 19.3% 27 40.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin RGPD4 285190 genome.wustl.edu 37 2 108487515 108487515 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_182588.2 +1 validated p.G1019S 0.028 1050 0% 1047 61.1% 4 0% benign(0) tolerated(0.45) neutral(0.012) NULL ANAPC1 64682 genome.wustl.edu 37 2 112625610 112625610 + Silent SNP A A G novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_022662.2 -1 validated p.C225 1.000 120 0% 192 17.7% 2 0% - - - NULL LRP1B 53353 genome.wustl.edu 37 2 141143523 141143523 + Silent SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_018557.2 -1 validated p.P3490 0.994 221 0% 250 20.8% 0 - - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich AGPS 8540 genome.wustl.edu 37 2 178386078 178386078 + Silent SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_003659.3 +1 reviewed p.T593 0.998 190 0% 234 58.1% 19 52.6% - - - HMMPfam_FAD-oxidase_C,superfamily_FAD-linked oxidases C-terminal domain TTC30A 92104 genome.wustl.edu 37 2 178481940 178481940 + Missense_Mutation SNP C C G novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_152275.3 -1 validated p.S497T 1.000 429 0% 492 16.5% 2 0% benign(0.017) tolerated(0.47) neutral(0.011) superfamily_SSF48452 NEUROD1 4760 genome.wustl.edu 37 2 182543157 182543157 + Missense_Mutation SNP C C A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_002500.2 -1 reviewed p.R144L 1.000 143 0% 227 18.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain TNS1 7145 genome.wustl.edu 37 2 218712394 218712394 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_022648.4 -1 reviewed p.P824L 0.860 63 0% 126 22.2% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL GIGYF2 26058 genome.wustl.edu 37 2 233715066 233715066 + Missense_Mutation SNP G G T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_001103147.1 +1 reviewed p.S1281I 1.000 120 0% 191 17.8% 13 7.6% unknown(0) deleterious(0.04) - NULL CTNNB1 1499 genome.wustl.edu 37 3 41266103 41266103 + Missense_Mutation SNP G G A rs121913399 TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_001098209.1 +1 reviewed p.G34R 1.000 75 0% 97 34% 42 26.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WDR52 55779 genome.wustl.edu 37 3 113114687 113114687 + Missense_Mutation SNP G G C novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_018338.3 -1 validated p.F600L 1.000 190 0% 225 24% 1 0% possibly_damaging(0.719) deleterious(0) deleterious(0.705) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 MBD4 8930 genome.wustl.edu 37 3 129151968 129151970 + In_Frame_Del DEL GAA GAA - novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_003925.1 -1 reviewed p.L511in_frame_del 1.000:0.997:1.000 - - - - - - - - - HMMPfam_HhH-GPD,superfamily_DNA-glycosylase AMOTL2 51421 genome.wustl.edu 37 3 134079139 134079139 + Silent SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_016201.2 -1 reviewed p.A564 0.274 31 0% 43 30.2% 1 0% - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A C novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_006218.2 +1 reviewed p.Q546P 1.000 100 0% 89 50.6% 3 0% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold NPY5R 4889 genome.wustl.edu 37 4 164271747 164271747 + Missense_Mutation SNP A A G novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_006174.2 +1 provisional p.M108V 1.000 522 0% 291 35.7% 0 - benign(0) tolerated(0.54) neutral(0.007) HMMPfam_7tm_1,superfamily_SSF81321 DDX60 55601 genome.wustl.edu 37 4 169195233 169195233 + Missense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_017631.5 -1 validated p.R769Q 1.000 196 0% 157 35.7% 0 - probably_damaging(0.997) tolerated(0.14) deleterious(0.716) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases IRX1 79192 genome.wustl.edu 37 5 3599446 3599446 + Silent SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_024337.3 +1 validated p.P128 0.633 17 0.000 9 0.444 1 0% - - - HMMSmart_HOX,superfamily_Homeodomain_like ENSG00000248269 0 genome.wustl.edu 37 5 140812819 140812819 + RNA SNP G G C novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd ENST00000513512 -1 known NULL 0.001 22 0% 32 28.1% 0 - - - - - DOCK2 1794 genome.wustl.edu 37 5 169122806 169122806 + Splice_Site SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_004946.2 +1 validated e10-1 1.000 263 0% 295 25.4% 0 - - - - - CDKAL1 54901 genome.wustl.edu 37 6 21231097 21231097 + Missense_Mutation SNP G G C novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_017774.3 +1 reviewed p.G523R 0.001 175 0% 127 42.5% 0 - benign(0.002) tolerated(0.05) neutral(0.345) NULL BTN2A1 11120 genome.wustl.edu 37 6 26468468 26468468 + Silent SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_007049.2 +1 reviewed p.E425 0.002 213 0% 161 32.9% 16 75% - - - HMMPfam_SPRY,HMMSmart_SM00449 STK38 11329 genome.wustl.edu 37 6 36467715 36467715 + Missense_Mutation SNP T T A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_007271.2 -1 provisional p.Q296L 1.000 233 0% 201 34.8% 3 0% probably_damaging(0.971) tolerated(0.06) deleterious(0.736) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LRFN2 57497 genome.wustl.edu 37 6 40399938 40399938 + Silent SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_020737.1 -1 provisional p.A305 0.912 26 0% 28 53.6% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HINT3 135114 genome.wustl.edu 37 6 126288115 126288115 + Missense_Mutation SNP A A G novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_138571.4 +1 validated p.N95S 1.000 293 0% 247 29.6% 0 - benign(0.032) tolerated(0.8) neutral(0.002) HMMPfam_HIT,superfamily_His_triad-like_motif ESR1 2099 genome.wustl.edu 37 6 152419923 152419923 + Missense_Mutation SNP A A G novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_000125.3 +1 reviewed p.Y537C 0.999 68 0% 61 42.6% 1 100% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain TRPV6 55503 genome.wustl.edu 37 7 142570138 142570138 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_018646.2 -1 validated p.R628C 1.000 16 0% 28 28.6% 0 - benign(0.007) deleterious(0.02) neutral(0.383) NULL LOC100129848 100129848 genome.wustl.edu 37 8 28196832 28196832 + Missense_Mutation SNP C C T rs189594057 by1000genomes TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd XM_001717438.2 -1 model p.G59S 0.058 38 0% 44 36.4% 1 0% - - - NULL FZD3 7976 genome.wustl.edu 37 8 28385331 28385331 + Missense_Mutation SNP A A T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_017412.2 +1 reviewed p.I352F 1.000 412 0% 324 27.5% 3 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Frizzled TRPA1 8989 genome.wustl.edu 37 8 72936072 72936072 + Missense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_007332.2 -1 reviewed p.M1042I 0.003 355 0% 275 24.7% 21 0% benign(0) tolerated(0.47) neutral(0.011) NULL ZNF252 286101 genome.wustl.edu 37 8 146202538 146202538 + Missense_Mutation SNP A A G novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd ENST00000427606 -1 known p.I458T 0.001 65 0% 52 25% 5 0% benign(0.005) tolerated(0.57) neutral(0.006) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANGPTL2 23452 genome.wustl.edu 37 9 129870385 129870385 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_012098.2 -1 reviewed p.S209L 0.015 12 0% 20 75% 34 0% benign(0.001) tolerated(0.08) neutral(0.300) NULL MKI67 4288 genome.wustl.edu 37 10 129903108 129903108 + Silent SNP C C A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_002417.4 -1 reviewed p.T2332 0.000 548 0% 626 22.5% 0 - - - - NULL CCKBR 887 genome.wustl.edu 37 11 6291529 6291529 + Silent SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_176875.2 +1 reviewed p.C205 0.424 99 0% 125 40% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ABTB2 25841 genome.wustl.edu 37 11 34184222 34184222 + Missense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_145804.1 -1 provisional p.V521M 0.002 19 0% 18 50% 0 - benign(0.116) tolerated(0.12) neutral(0.270) superfamily_ANK EHF 26298 genome.wustl.edu 37 11 34680419 34680419 + Missense_Mutation SNP C C G novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_012153.4 +1 validated p.R282G 1.000 121 0% 97 27.8% 20 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) "HMMPfam_Ets,HMMSmart_SM00413,superfamily_""Winged helix"" DNA-binding domain" ANO1 55107 genome.wustl.edu 37 11 69957845 69957845 + Missense_Mutation SNP G G C novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_018043.5 +1 validated p.A278P 0.957 86 0% 80 27.5% 4 50% benign(0.067) tolerated(0.33) neutral(0.029) NULL AASDHPPT 60496 genome.wustl.edu 37 11 105962101 105962101 + Missense_Mutation SNP G G C novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_015423.2 +1 reviewed p.R197P 0.837 277 0% 158 32.9% 5 20% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) superfamily_4-PPT_transf SORL1 6653 genome.wustl.edu 37 11 121414357 121414357 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_003105.4 +1 reviewed p.V596I 0.997 202 0% 170 34.1% 0 - benign(0.008) tolerated(0.5) neutral(0.010) HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase KCNJ5 3762 genome.wustl.edu 37 11 128781257 128781257 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_000890.3 +1 reviewed p.R30H 1.000 59 0% 52 51.9% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL B4GALNT3 283358 genome.wustl.edu 37 12 670530 670530 + Silent SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_173593.3 +1 validated p.D970 0.977 14 0% 31 48.4% 8 25% - - - superfamily_Nucleotide-diphospho-sugar transferases ERC1 23085 genome.wustl.edu 37 12 1346068 1346068 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_178040.2 +1 reviewed p.Q829* 0.998 131 0% 178 32.6% 2 0% - - - HMMPfam_Cast OVCH1 341350 genome.wustl.edu 37 12 29629154 29629154 + Missense_Mutation SNP C C G novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_183378.2 -1 validated p.E486Q 0.225 451 0% 411 51.3% 0 - probably_damaging(0.991) tolerated(0.54) neutral(0.452) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DICER1 23405 genome.wustl.edu 37 14 95569702 95569702 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_030621.3 -1 reviewed p.S1344L 1.000 153 0% 83 61.4% 2 0% possibly_damaging(0.893) deleterious(0) deleterious(0.796) HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,superfamily_RNase_III VPS13C 54832 genome.wustl.edu 37 15 62312689 62312690 + Frame_Shift_Ins INS - - CT novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_020821.1 -1 validated p.L224fs 1.000:1.000 - - - - - - - - - NULL C16orf89 146556 genome.wustl.edu 37 16 5094397 5094397 + Silent SNP T T A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_001098514.1 -1 validated p.A384 0.000 34 0% 46 37% 44 34% - - - NULL ERCC4 2072 genome.wustl.edu 37 16 14029422 14029422 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_005236.2 +1 reviewed p.G545R 0.998 204 0.5% 151 37.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ACSM3 6296 genome.wustl.edu 37 16 20793081 20793081 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_005622.3 +1 validated p.R331* 1.000 106 0.9% 69 10.1% 2 0% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like CDH8 1006 genome.wustl.edu 37 16 61747771 61747771 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_001796.2 -1 reviewed p.P543L 1.000 144 0% 64 46.9% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin GLOD4 51031 genome.wustl.edu 37 17 679069 679069 + Missense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_016080.3 -1 validated p.E118K 0.941 289 0% 332 36.4% 10 20% benign(0.003) tolerated(0.87) neutral(0.001) NULL BPTF 2186 genome.wustl.edu 37 17 65914842 65914842 + Missense_Mutation SNP G G C novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_182641.3 +1 reviewed p.Q1772H 1.000 120 0% 89 30.3% 1 0% probably_damaging(0.981) tolerated(0.24) neutral(0.463) NULL FHOD3 80206 genome.wustl.edu 37 18 34298471 34298471 + Silent SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_025135.2 +1 validated p.S895 1.000 401 0% 304 40.8% 0 - - - - superfamily_FH2_actin_bd DSEL 92126 genome.wustl.edu 37 18 65181772 65181772 + Missense_Mutation SNP G G C novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_032160.2 -1 validated p.S35C 1.000 139 0% 112 37.5% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL FCGBP 8857 genome.wustl.edu 37 19 40433776 40433776 + Missense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_003890.2 -1 validated p.A165T 0.000 110 0% 108 77.8% 0 - possibly_damaging(0.915) tolerated(0.22) neutral(0.408) NULL KCNQ2 3785 genome.wustl.edu 37 20 62076675 62076675 + Missense_Mutation SNP G G A novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_172107.2 -1 reviewed p.R144W 0.991 13 0% 11 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels IGLV8-61 28774 genome.wustl.edu 37 22 22453403 22453403 + Missense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd ENST00000390283 +1 known p.S50F 0.028 156 0% 134 37.3% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SREBF2 6721 genome.wustl.edu 37 22 42294733 42294733 + Missense_Mutation SNP C C T novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_004599.2 +1 reviewed p.R896C 0.815 9 0.000 17 0.235 19 31.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MORC4 79710 genome.wustl.edu 37 X 106219851 106219852 + Frame_Shift_Ins INS - - G novel TCGA-A5-A0GN-01A-11W-A062-09 TCGA-A5-A0GN-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0514fad5-f3bc-4f45-8679-8bb9be778de0 3df88b48-da53-4014-9507-de070223d1dd NM_024657.4 -1 reviewed p.Y373fs 0.999:0.992 - - - - - - - - - NULL