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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCC8 0 genome.wustl.edu 37 11 17434293 17434293 + Missense_Mutation SNP C C T TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 11 17434293 17434293 C T SNP ABCC8 ENST00000302539 human ensembl 69_37n -1 known missense c.2479 p.G827S 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 164 0 0.00 140 78 35.62 - - - ABCD2 0 genome.wustl.edu 37 12 39947886 39947886 + Missense_Mutation SNP C C T TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 12 39947886 39947886 C T SNP ABCD2 ENST00000308666 human ensembl 69_37n -1 known missense c.2051 p.R684H 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD2 HGNC ENSG00000173208 177 0 0.00 183 69 27.38 - - - BCOR 0 genome.wustl.edu 37 X 39923606 39923606 + Missense_Mutation SNP C C T TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e X 39923606 39923606 C T SNP BCOR ENST00000378444 human ensembl 69_37n -1 known missense c.3485 p.R1162H 0.934 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 39 0 0.00 36 8 17.78 - - - CNP 0 genome.wustl.edu 37 17 40123967 40123967 + Missense_Mutation SNP G G A TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 17 40123967 40123967 G A SNP CNP ENST00000393892 human ensembl 69_37n +1 known missense c.734 p.R245K 1.000 pfam_CNPase,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase - no_errors CNP HGNC ENSG00000173786 72 0 0.00 33 18 35.29 - - - CRYGD 0 genome.wustl.edu 37 2 208988842 208988842 + Silent SNP G G A TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 2 208988842 208988842 G A SNP CRYGD ENST00000264376 human ensembl 69_37n -1 known silent c.246 p.I82 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin - no_errors CRYGD HGNC ENSG00000118231 19 0 0.00 16 13 44.83 - - - CSMD1 0 genome.wustl.edu 37 8 2823394 2823394 + Missense_Mutation SNP A A G TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 8 2823394 2823394 A G SNP CSMD1 ENST00000335551 human ensembl 69_37n -1 novel missense c.7435 p.S2479P 0.925 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 HGNC ENSG00000183117 120 0 0.00 220 50 18.52 - - - CYP21A2 0 genome.wustl.edu 37 6 32006244 32006244 + Frame_Shift_Del DEL C C - TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 6 32006244 32006244 C - DEL CYP21A2 ENST00000418967 human ensembl 69_37n +1 known frame_shift_del c.45 p.A16fs 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 12 0 0.00 3 4 50.00 - - - FADS2 0 genome.wustl.edu 37 11 61607902 61607902 + Missense_Mutation SNP C C T TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 11 61607902 61607902 C T SNP FADS2 ENST00000278840 human ensembl 69_37n +1 known missense c.415 p.H139Y 1.000 pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5 - no_errors FADS2 HGNC ENSG00000134824 112 0 0.00 84 19 18.45 - - - FAM182A 0 genome.wustl.edu 37 20 26062002 26062002 + Missense_Mutation SNP G G C TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 20 26062002 26062002 G C SNP FAM182A ENST00000246000 human ensembl 69_37n +1 known missense c.354 p.Q118H 0.160 NULL NULL - no_errors FAM182A HGNC ENSG00000125804 33 0 0.00 11 4 26.67 - - - FLG 0 genome.wustl.edu 37 1 152281273 152281273 + Missense_Mutation SNP G G T TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 1 152281273 152281273 G T SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.6089 p.A2030E 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 83 0 0.00 260 63 19.44 - - - GATA3 0 genome.wustl.edu 37 10 8115701 8115704 + Frame_Shift_Del DEL GATT GATT - TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 GATT GATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 10 8115701 8115704 GATT - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_del c.1052_1053 p.N351fs 1.000:1.000:1.000:1.000 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 48 0 0.00 36 7 16.28 - - - INTS4L1 0 genome.wustl.edu 37 7 64639826 64639826 + RNA SNP A A T TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 7 64639826 64639826 A T SNP INTS4L1 ENST00000587624 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC ENSG00000164669 320 0 0.00 251 128 33.77 - - - KIAA1755 0 genome.wustl.edu 37 20 36856567 36856567 + Silent SNP G G A TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 20 36856567 36856567 G A SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known silent c.1947 p.S649 0.761 superfamily_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 87 0 0.00 49 34 40.96 - - - L3MBTL4 0 genome.wustl.edu 37 18 6171939 6171939 + Silent SNP A A G TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 18 6171939 6171939 A G SNP L3MBTL4 ENST00000284898 human ensembl 69_37n -1 known silent c.984 p.V328 0.998 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 237 0 0.00 322 159 33.06 - - - MEGF6 0 genome.wustl.edu 37 1 3427421 3427422 + Frame_Shift_Ins INS - - T TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 1 3427421 3427422 - T INS MEGF6 ENST00000356575 human ensembl 69_37n -1 known frame_shift_ins c.1160_1159 p.T387fs 0.975:0.990 smart_EGF-like_Ca-bd,smart_EGF-like pfam_EGF_laminin,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 11 0 0.00 4 2 33.33 - - - MPP7 0 genome.wustl.edu 37 10 28436429 28436429 + Missense_Mutation SNP A A G TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 10 28436429 28436429 A G SNP MPP7 ENST00000337532 human ensembl 69_37n -1 known missense c.298 p.S100P 1.000 pfam_L27_C,smart_L27,pfscan_L27 pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP7 HGNC ENSG00000150054 344 0 0.00 374 169 31.07 - - - PDAP1 0 genome.wustl.edu 37 7 98997926 98997926 + Missense_Mutation SNP C C T TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 7 98997926 98997926 C T SNP PDAP1 ENST00000350498 human ensembl 69_37n -1 known missense c.335 p.R112Q 1.000 pfam_Casein_kinase_sb_PP28 pfam_Casein_kinase_sb_PP28 - no_errors PDAP1 HGNC ENSG00000106244 417 1 0.24 197 167 45.88 - - - PIK3CA 0 genome.wustl.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 3 178936095 178936095 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1637 p.Q546R 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 95 0 0.00 78 38 32.76 - - - PKD1L2 0 genome.wustl.edu 37 16 81193367 81193367 + Silent SNP G G T TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 16 81193367 81193367 G T SNP PKD1L2 ENST00000525539 human ensembl 69_37n -1 known silent c.3756 p.V1252 0.025 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PKD1L2 HGNC ENSG00000166473 113 0 0.00 200 44 18.03 - - - PKHD1L1 0 genome.wustl.edu 37 8 110442249 110442249 + Missense_Mutation SNP C C T TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 8 110442249 110442249 C T SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.3212 p.A1071V 0.003 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 138 0 0.00 196 248 55.73 - - - SFMBT1 0 genome.wustl.edu 37 3 52954632 52954632 + Missense_Mutation SNP A A C TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 3 52954632 52954632 A C SNP SFMBT1 ENST00000358080 human ensembl 69_37n -1 known missense c.1293 p.S431R 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 134 1 0.74 94 43 31.39 - - - U2AF2 0 genome.wustl.edu 37 19 56173905 56173906 + Frame_Shift_Ins INS - - G TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 19 56173905 56173906 - G INS U2AF2 ENST00000308924 human ensembl 69_37n +1 known frame_shift_ins c.524_525 p.L178fs 0.991:0.923 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 59 0 0.00 18 2 10.00 - - - ZMYM3 0 genome.wustl.edu 37 X 70464311 70464311 + Missense_Mutation SNP G G A TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e X 70464311 70464311 G A SNP ZMYM3 ENST00000373988 human ensembl 69_37n -1 known missense c.3127 p.R1043W 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 173 0 0.00 129 51 28.18 - - - ZNF454 0 genome.wustl.edu 37 5 178392823 178392823 + Missense_Mutation SNP G G C TCGA-B6-A0I5-01A-11W-A100-09 TCGA-B6-A0I5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f1139266-fade-4d27-ac67-60870e666295 2a5bbcf0-d39c-4f1b-a200-f778e586d42e 5 178392823 178392823 G C SNP ZNF454 ENST00000320129 human ensembl 69_37n +1 known missense c.1418 p.C473S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 134 0 0.00 99 35 26.12 - - -