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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error NormalRefReads_WU NormalVarReads_WU NormalVAF_WU TumorRefReads_WU TumorVarReads_WU TumorVAF_WU RNARefReads_WU RNAVarReads_WU RNAVAF_WU DMD 0 genome.wustl.edu 36 X 31764826 31764826 + Missense_Mutation SNP G G A TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 X 31764826 31764826 G A SNP DMD NM_004006.2 human genbank 54_36p -1 reviewed missense c.7130 p.P2377L 1.000 superfamily_Spectrin repeat HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,superfamily_Prefoldin,superfamily_t-snare proteins,HMMPfam_efhand_1,HMMPfam_efhand_2,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_EF-hand - no_errors 112 9 7.38 209 161 42.93 NA NA NA GPR88 0 genome.wustl.edu 36 1 100777515 100777515 + Silent SNP C C A TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 1 100777515 100777515 C A SNP GPR88 NM_022049.2 human genbank 54_36p +1 validated silent c.405 p.A135 0.994 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 15 1 6.25 18 21 52.50 NA NA NA DCAF6 0 genome.wustl.edu 36 1 166227168 166227168 + Missense_Mutation SNP T T C TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 1 166227168 166227168 T C SNP IQWD1 NM_018442.1 human genbank 54_36p +1 validated missense c.655 p.Y219H 1.000 HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 HMMSmart_IQ,HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 - no_errors 68 17 20.00 122 116 48.33 8 10 55.56 CELSR3 0 genome.wustl.edu 36 3 48674114 48674114 + Missense_Mutation SNP T T C TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 3 48674114 48674114 T C SNP CELSR3 NM_001407.2 human genbank 54_36p -1 reviewed missense c.958 p.N320D 1.000 NULL PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00282,HMMPfam_HRM,HMMSmart_SM00008,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_EGF/Laminin - no_errors 78 6 7.14 30 34 53.12 NA NA NA CADPS 0 genome.wustl.edu 36 3 62493667 62493667 + Missense_Mutation SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 3 62493667 62493667 C T SNP CADPS NM_003716.3 human genbank 54_36p -1 reviewed missense c.2210 p.R737Q 1.000 NULL HMMPfam_C2,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041,superfamily_PH domain-like - no_errors 238 12 4.80 135 111 44.40 NA NA NA CMYA5 0 genome.wustl.edu 36 5 79063408 79063408 + Missense_Mutation SNP G G A TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 5 79063408 79063408 G A SNP CMYA5 NM_153610.3 human genbank 54_36p +1 validated missense c.3064 p.E1022K 0.262 NULL HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like - no_errors 188 14 6.93 203 169 44.83 NA NA NA FCHSD1 0 genome.wustl.edu 36 5 141009287 141009287 + Silent SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 5 141009287 141009287 C T SNP FCHSD1 NM_033449.1 human genbank 54_36p -1 provisional silent c.234 p.R78 0.999 HMMPfam_FCH,HMMSmart_SM00055 HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 - no_errors 195 21 9.72 51 34 39.53 0 0 0.00 LOC442255 0 genome.wustl.edu 36 6 122017543 122017543 + RNA SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 6 122017543 122017543 C T SNP LOC442255 XR_016618.2 human genbank 54_36p +1 model rna NULL NULL 0.047 - - - pseudogene 215 23 9.62 189 157 45.24 35 0 0.00 SMOC2 0 genome.wustl.edu 36 6 168750815 168750815 + Missense_Mutation SNP G G A TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 6 168750815 168750815 G A SNP SMOC2 NM_022138.1 human genbank 54_36p +1 provisional missense c.911 p.R304Q 0.973 NULL HMMPfam_Thyroglobulin_1,HMMSmart_TY,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin_1,HMMSmart_EFh,HMMPfam_Kazal_1,HMMSmart_KAZAL,PatternScan_EF_HAND_1,HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473 - no_errors 70 9 11.39 28 29 50.88 NA NA NA UNC5B 0 genome.wustl.edu 36 10 72721224 72721224 + Missense_Mutation SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 10 72721224 72721224 C T SNP UNC5B NM_170744.3 human genbank 54_36p +1 validated missense c.1324 p.P442S 1.000 NULL HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin - no_errors 171 14 7.57 48 32 39.02 NA NA NA IDH2 0 genome.wustl.edu 36 15 88432938 88432938 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 186 20 9.66 64 49 42.98 153 162 51.27 TSHZ3 0 genome.wustl.edu 36 19 36461818 36461818 + Missense_Mutation SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 19 36461818 36461818 C T SNP TSHZ3 NM_020856.2 human genbank 54_36p -1 validated missense c.721 p.D241N 1.000 NULL HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1 - no_errors 1001 126 11.14 164 146 46.79 NA NA NA MEGF8 0 genome.wustl.edu 36 19 47530112 47530112 + Silent SNP G G A TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 19 47530112 47530112 G A SNP MEGF8 NM_001410.2 human genbank 54_36p +1 validated silent c.465 p.P155 0.000 HMMSmart_EGF PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB,HMMSmart_EGF_CA,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_PSI,HMMSmart_PSI,HMMSmart_EGF,HMMPfam_Kelch_1,superfamily_Gal_oxid_central,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57196 - no_errors 72 10 12.20 48 44 47.31 4 2 33.33 SYNGR4 0 genome.wustl.edu 36 19 53570758 53570758 + Silent SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 19 53570758 53570758 C T SNP SYNGR4 NM_012451.2 human genbank 54_36p +1 reviewed silent c.408 p.F136 0.848 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors 591 62 9.47 49 41 45.05 0 1 100.00 CLDN14 0 genome.wustl.edu 36 21 36755479 36755479 + Missense_Mutation SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 21 36755479 36755479 C T SNP CLDN14 NM_012130.1 human genbank 54_36p -1 reviewed missense c.385 p.G129S 1.000 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN - no_errors 148 10 6.33 53 19 26.39 NA NA NA NPM1 0 genome.wustl.edu 36 5 170770148 170770149 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA