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 CBFB 0 genome.wustl.edu 37 16 67063371 67063371 + Missense_Mutation SNP C C G TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 16 67063371 67063371 C G SNP CBFB ENST00000290858 human ensembl 69_37n +1 known missense c.61 p.L21V 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 16 0 0.00 1 5 83.33 - - - CSMD2 0 genome.wustl.edu 37 1 34052731 34052731 + Silent SNP G G T TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 1 34052731 34052731 G T SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known silent c.6894 p.L2298 0.985 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_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 53 0 0.00 52 11 17.46 - - - CYP11B2 0 genome.wustl.edu 37 8 143994109 143994109 + Missense_Mutation SNP C C T TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 8 143994109 143994109 C T SNP CYP11B2 ENST00000323110 human ensembl 69_37n -1 known missense c.1235 p.R412H 0.811 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 31 0 0.00 26 19 42.22 - - - EPHB2 0 genome.wustl.edu 37 1 23111511 23111511 + Silent SNP C C T TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 1 23111511 23111511 C T SNP EPHB2 ENST00000400191 human ensembl 69_37n +1 known silent c.753 p.I251 0.965 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 17 0 0.00 4 5 55.56 - - - GATA3 0 genome.wustl.edu 37 10 8111433 8111434 + Splice_Site DEL CA CA - TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 10 8111433 8111434 CA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known splice_site_del c.925-3_925-2 e4-2 1.000:1.000 - - - no_errors GATA3 HGNC ENSG00000107485 40 0 0 33 15 31.25 - - - HYOU1 0 genome.wustl.edu 37 11 118919513 118919513 + Missense_Mutation SNP C C G TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 11 118919513 118919513 C G SNP HYOU1 ENST00000404233 human ensembl 69_37n -1 known missense c.2078 p.R693P 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 57 0 0.00 34 24 41.38 - - - IFT140 0 genome.wustl.edu 37 16 1575899 1575899 + Silent SNP C C A TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 16 1575899 1575899 C A SNP IFT140 ENST00000426508 human ensembl 69_37n -1 known silent c.2757 p.R919 0.961 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 9 0 0.00 12 13 52.00 - - - KCNJ11 0 genome.wustl.edu 37 11 17408781 17408781 + Silent SNP G G T TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 11 17408781 17408781 G T SNP KCNJ11 ENST00000339994 human ensembl 69_37n -1 known silent c.858 p.I286 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 36 0 0.00 36 26 41.94 - - - KIR2DL2 0 genome.wustl.edu 37 GL000209.1 70112 70112 + Missense_Mutation SNP T T C TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f GL000209.1 70112 70112 T C SNP KIR2DL2 ENST00000400848 human ensembl 69_37n +1 known missense c.5 p.L2S NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 16 0 0.00 0 4 100.00 - - - LDOC1 0 genome.wustl.edu 37 X 140271018 140271018 + Silent SNP C C A TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f X 140271018 140271018 C A SNP LDOC1 ENST00000370526 human ensembl 69_37n -1 known silent c.189 p.R63 0.996 NULL NULL - no_errors LDOC1 HGNC ENSG00000182195 25 0 0.00 28 13 31.71 - - - MXRA5 0 genome.wustl.edu 37 X 3229027 3229027 + Missense_Mutation SNP T T C TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f X 3229027 3229027 T C SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.7217 p.Q2406R 0.945 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 23 0 0.00 16 9 36.00 - - - OR2D3 0 genome.wustl.edu 37 11 6942870 6942870 + Missense_Mutation SNP T T A TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 11 6942870 6942870 T A SNP OR2D3 ENST00000317834 human ensembl 69_37n +1 known missense c.638 p.M213K 0.795 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2D3 HGNC ENSG00000178358 66 0 0.00 73 19 20.65 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 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 80 0 0.00 52 25 32.47 - - - TNKS1BP1 0 genome.wustl.edu 37 11 57076056 57076056 + Missense_Mutation SNP C C T TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 11 57076056 57076056 C T SNP TNKS1BP1 ENST00000358252 human ensembl 69_37n -1 known missense c.4129 p.G1377S 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 28 0 0.00 17 13 43.33 - - - USP54 0 genome.wustl.edu 37 10 75279643 75279643 + Missense_Mutation SNP G G A TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 10 75279643 75279643 G A SNP USP54 ENST00000339859 human ensembl 69_37n -1 known missense c.2590 p.R864C 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC ENSG00000166348 46 0 0.00 34 12 26.09 - - - WDR19 0 genome.wustl.edu 37 4 39236448 39236448 + Missense_Mutation SNP C C A TCGA-E9-A249-01A-11D-A167-09 TCGA-E9-A249-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2799ad7e-d6f0-4919-b7f6-1c957b4c74f8 adba5848-490e-4c07-9b41-a4aa9b5e6a3f 4 39236448 39236448 C A SNP WDR19 ENST00000399820 human ensembl 69_37n +1 known missense c.2316 p.D772E 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 58 0 0.00 46 7 13.21 - - -