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 MYCN 4613 genome.wustl.edu 37 2 16085981 16085981 + Missense_Mutation SNP A A G novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_005378.4 +1 reviewed p.H386R 1.000 116 0% 56 17.9% 30 56.6% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain SLC9A4 389015 genome.wustl.edu 37 2 103141488 103141488 + Silent SNP G G T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_001011552.3 +1 validated p.L608 0.927 508 0% 463 33% 0 - - - - NULL CTNNB1 1499 genome.wustl.edu 37 3 41266098 41266098 + Missense_Mutation SNP A A G rs121913396 byCluster TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_001098209.1 +1 reviewed p.D32G 1.000 64 0% 79 29.1% 70 48.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000173366 0 genome.wustl.edu 37 3 52256028 52256028 + Silent SNP C C T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 ENST00000494383 -1 known p.G922S 0.000 19 0% 30 50% 1 0% - - - superfamily_L domain-like PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 byCluster TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_006218.2 +1 reviewed p.E545K 1.000 94 0% 94 37.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold ZNF827 152485 genome.wustl.edu 37 4 146823888 146823888 + Frame_Shift_Del DEL C C - novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_178835.3 -1 validated p.E175fs 0.998 - - - - - - - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13781061 13781061 + Missense_Mutation SNP C C T rs184758570 by1000genomes TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_001369.2 -1 reviewed p.R2943H 0.992 142 0% 140 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 CDH10 1008 genome.wustl.edu 37 5 24535881 24535881 + Missense_Mutation SNP C C A novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_006727.2 -1 reviewed p.G193W 1.000 101 0% 74 39.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin ERAP2 64167 genome.wustl.edu 37 5 96230950 96230962 + Frame_Shift_Del DEL TGGTTTGGCAACC TGGTTTGGCAACC - novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 TGGTTTGGCAACC TGGTTTGGCAACC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_001130140.1 +1 validated p.F377fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.988:1.000:1.000:1.000:1.000 - - - - - - - - - "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" CNR1 1268 genome.wustl.edu 37 6 88854286 88854286 + Silent SNP C C T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_016083.4 -1 reviewed p.A236 0.002 62 0% 63 31.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PNMA2 10687 genome.wustl.edu 37 8 26366266 26366266 + Silent SNP C C T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_007257.5 -1 validated p.A2 0.543 219 0.5% 270 38.5% 0 - - - - NULL AP3M2 10947 genome.wustl.edu 37 8 42024693 42024693 + Missense_Mutation SNP T T A novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_001134296.1 +1 reviewed p.I272N 1.000 148 0% 188 38.3% 7 42.8% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor FAM22D 728130 genome.wustl.edu 37 10 89117852 89117854 + In_Frame_Del DEL AGA AGA - novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 ENST00000330762 +1 known p.E16in_frame_del 0.018:0.018:0.030 - - - - - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 ENST00000371953 +1 known p.R130G 1.000 317 0% 335 35.8% 22 40.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692934 89692935 + In_Frame_Ins INS - - TAC novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 ENST00000371953 +1 known p.141in_frame_insL 1.000:1.000 - - - - - - - - - HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II SIRT3 23410 genome.wustl.edu 37 11 233128 233128 + Missense_Mutation SNP G G T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_012239.5 -1 validated p.H187Q 0.148 42 0% 34 26.5% 11 63.6% benign(0) tolerated(0.45) neutral(0.012) HMMPfam_SIR2,superfamily_SSF52467 ANO2 57101 genome.wustl.edu 37 12 5672713 5672713 + Missense_Mutation SNP C C T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_020373.2 -1 validated p.V917I 0.977 223 0% 193 38.3% 3 66.6% benign(0.022) tolerated(0.47) neutral(0.012) HMMPfam_DUF590 ZNF384 171017 genome.wustl.edu 37 12 6777070 6777087 + In_Frame_Del DEL TGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGC - rs3835029 byCluster;by1000genomes TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 TGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_001135734.1 -1 reviewed p.QQQQQQ511in_frame_del 0.291:0.350:0.379:0.430:0.765:0.910:0.986:0.997:0.989:0.995:1.000:1.000:1.000:0.998:0.894:0.920:0.981:0.987 - - - - - - - - - NULL CAPS2 84698 genome.wustl.edu 37 12 75672759 75672759 + Missense_Mutation SNP C C G novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 ENST00000328705 -1 known p.E354Q 1.000 206 0% 233 39.1% 0 - probably_damaging(0.992) deleterious(0.05) deleterious(0.793) superfamily_SSF47473 ACIN1 22985 genome.wustl.edu 37 14 23549519 23549519 + Nonsense_Mutation SNP G G C novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_014977.3 -1 validated p.S400* 0.093 111 0% 123 38.2% 16 25% - - - NULL TGFB3 7043 genome.wustl.edu 37 14 76429789 76429789 + Missense_Mutation SNP G G A novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_003239.2 -1 reviewed p.R266C 1.000 95 0% 78 43.6% 8 12.5% probably_damaging(0.968) deleterious(0.04) deleterious(0.759) NULL ENSG00000246741 0 genome.wustl.edu 37 15 40850021 40850026 + RNA DEL AGAATT AGAATT - rs113169718 byCluster;by1000genomes TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 AGAATT AGAATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 ENST00000501408 +1 known NULL 1.000:1.000:1.000:1.000:0.999:0.996 - - - - - - - - - - DENND4A 10260 genome.wustl.edu 37 15 65983640 65983640 + Missense_Mutation SNP C C T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_001144823.1 -1 validated p.G1097R 1.000 104 0% 87 41.4% 2 0% probably_damaging(0.978) tolerated(0.09) deleterious(0.717) NULL STRA6 64220 genome.wustl.edu 37 15 74474713 74474713 + Silent SNP G G A novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_001142617.1 -1 reviewed p.L463 0.767 23 0% 19 31.6% 198 52% - - - NULL NOMO3 408050 genome.wustl.edu 37 16 16355442 16355442 + Missense_Mutation SNP C C T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_001004067.2 +1 reviewed p.S435F 0.453 251 0% 286 62.9% 8 12.5% possibly_damaging(0.63) deleterious(0.04) deleterious(0.569) NULL KATNB1 10300 genome.wustl.edu 37 16 57789114 57789114 + Silent SNP C C T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_005886.2 +1 reviewed p.N460 0.056 15 0% 14 28.6% 53 39.6% - - - NULL RINL 126432 genome.wustl.edu 37 19 39361335 39361335 + Missense_Mutation SNP G G A novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_198445.2 -1 provisional p.T186M 0.977 5 0.000 12 0.500 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF109993 SLC9A8 23315 genome.wustl.edu 37 20 48491321 48491321 + Silent SNP C C T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_015266.1 +1 validated p.L346 1.000 126 0% 161 37.3% 0 - - - - HMMPfam_Na_H_Exchanger SEZ6L 23544 genome.wustl.edu 37 22 26693012 26693012 + Silent SNP C C T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_021115.4 +1 validated p.D376 0.263 58 0% 76 39.5% 1 0% - - - HMMSmart_SM00042,superfamily_Spermadhesin CUB domain FAM155B 27112 genome.wustl.edu 37 X 68749538 68749538 + Silent SNP C C T novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_015686.2 +1 validated p.F386 0.999 45 0% 73 41.1% 2 0% - - - NULL OPN1MW2 728458 genome.wustl.edu 37 X 153490556 153490556 + Missense_Mutation SNP G G A novel TCGA-AP-A0LV-01A-11W-A062-09 TCGA-AP-A0LV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d35ceb5-c85e-4129-b9de-6f206e72b432 c24acc97-c98b-4612-81d1-06c948ce3080 NM_001048181.2 +1 reviewed p.A98T 0.997 188 0% 244 16.4% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_7tm_1,superfamily_SSF81321