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 BTBD17 0 genome.wustl.edu 37 17 72352897 72352897 + Missense_Mutation SNP C C A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 17 72352897 72352897 C A SNP BTBD17 ENST00000375366 human ensembl 69_37n -1 known missense c.1336 p.D446Y 1.000 NULL pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 99 1 0.99 105 29 21.48 - - - BTBD17 0 genome.wustl.edu 37 17 72353000 72353000 + Silent SNP C C T TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 17 72353000 72353000 C T SNP BTBD17 ENST00000375366 human ensembl 69_37n -1 known silent c.1233 p.K411 1.000 NULL pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 19 0 0.00 21 7 25.00 - - - CACNA1C 0 genome.wustl.edu 37 12 2602428 2602428 + Missense_Mutation SNP C C T TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 12 2602428 2602428 C T SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known missense c.989 p.T330M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 84 0 0.00 94 24 20.17 - - - DISP2 0 genome.wustl.edu 37 15 40660863 40660863 + Silent SNP C C T TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 15 40660863 40660863 C T SNP DISP2 ENST00000267889 human ensembl 69_37n +1 known silent c.2550 p.C850 0.198 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 11 0 0.00 9 4 30.77 - - - EBF1 0 genome.wustl.edu 37 5 158523388 158523388 + Silent SNP G G A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 5 158523388 158523388 G A SNP EBF1 ENST00000313708 human ensembl 69_37n -1 known silent c.318 p.N106 0.968 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_HLH_DNA-bd,smart_IPT_TIG_rcpt - no_errors EBF1 HGNC ENSG00000164330 209 2 0.94 132 47 26.11 - - - FAM131C 0 genome.wustl.edu 37 1 16386065 16386065 + Silent SNP T T A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 1 16386065 16386065 T A SNP FAM131C ENST00000375662 human ensembl 69_37n -1 known silent c.486 p.T162 0.178 NULL superfamily_Chromodomain-like - no_errors FAM131C HGNC ENSG00000185519 26 0 0.00 15 3 16.67 - - - FAM185A 0 genome.wustl.edu 37 7 102390050 102390050 + Silent SNP G G T TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 7 102390050 102390050 G T SNP FAM185A ENST00000413034 human ensembl 69_37n +1 known silent c.396 p.V132 0.139 NULL NULL - no_errors FAM185A HGNC ENSG00000222011 15 0 0.00 25 8 24.24 - - - FCGRT 0 genome.wustl.edu 37 19 50017150 50017150 + Missense_Mutation SNP T T A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 19 50017150 50017150 T A SNP FCGRT ENST00000221466 human ensembl 69_37n +1 known missense c.85 p.S29T 0.151 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors FCGRT HGNC ENSG00000104870 205 2 0.95 212 51 19.10 - - - FREM3 0 genome.wustl.edu 37 4 144545442 144545442 + Nonsense_Mutation SNP C C T TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 4 144545442 144545442 C T SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative nonsense c.5472 p.W1824* 0.998 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 310 2 0.64 177 69 27.94 - - - HSPG2 0 genome.wustl.edu 37 1 22167762 22167762 + Silent SNP G G A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 1 22167762 22167762 G A SNP HSPG2 ENST00000374695 human ensembl 69_37n -1 known silent c.9345 p.S3115 0.622 smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 36 0 0.00 30 6 16.67 - - - IDH1 0 genome.wustl.edu 37 2 209106864 209106864 + Missense_Mutation SNP T T C TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 2 209106864 209106864 T C SNP IDH1 ENST00000345146 human ensembl 69_37n -1 known missense c.704 p.Y235C 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ - no_errors IDH1 HGNC ENSG00000138413 120 1 0.83 100 27 21.26 - - - IFITM3 0 genome.wustl.edu 37 11 319874 319874 + Silent SNP G G A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 11 319874 319874 G A SNP IFITM3 ENST00000399808 human ensembl 69_37n -1 known silent c.366 p.I122 0.000 pfam_Interferon-induced_TM_protein pfam_Interferon-induced_TM_protein - no_errors IFITM3 HGNC ENSG00000142089 121 1 0.82 191 42 18.03 - - - LAMC3 0 genome.wustl.edu 37 9 133945108 133945108 + Silent SNP C C T TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 9 133945108 133945108 C T SNP LAMC3 ENST00000361069 human ensembl 69_37n +1 known silent c.2940 p.N980 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 16 0 0.00 22 8 26.67 - - - MUC12 0 genome.wustl.edu 37 7 100639210 100639211 + Frame_Shift_Ins INS - - A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 7 100639210 100639211 - A INS MUC12 ENST00000379442 human ensembl 69_37n +1 known frame_shift_ins c.5795_5796 p.A1933fs 0.000:0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 21 0 0.00 13 3 18.75 - - - MYL9 0 genome.wustl.edu 37 20 35177631 35177631 + Silent SNP C C T TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 20 35177631 35177631 C T SNP MYL9 ENST00000279022 human ensembl 69_37n +1 known silent c.498 p.G166 0.611 pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL9 HGNC ENSG00000101335 74 0 0.00 99 23 18.85 - - - NOSTRIN 0 genome.wustl.edu 37 2 169711935 169711936 + Frame_Shift_Del DEL AG AG - TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 2 169711935 169711936 AG - DEL NOSTRIN ENST00000444448 human ensembl 69_37n +1 known frame_shift_del c.1100_1101 p.D369fs 0.993:0.663 superfamily_HR1_rho-bd pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 137 1 0.72 79 43 34.96 - - - PCDHGA9 0 genome.wustl.edu 37 5 140782907 140782907 + Missense_Mutation SNP G G A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 5 140782907 140782907 G A SNP PCDHGA9 ENST00000573521 human ensembl 69_37n +1 known missense c.388 p.A130T 0.342 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 54 0 0.00 27 11 28.95 - - - PKN1 0 genome.wustl.edu 37 19 14581448 14581448 + Missense_Mutation SNP G G A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 19 14581448 14581448 G A SNP PKN1 ENST00000342216 human ensembl 69_37n +1 known missense c.2516 p.R839H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN1 HGNC ENSG00000123143 29 0 0.00 48 13 20.97 - - - PTPRR 0 genome.wustl.edu 37 12 71286478 71286478 + Missense_Mutation SNP G G A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 12 71286478 71286478 G A SNP PTPRR ENST00000283228 human ensembl 69_37n -1 known missense c.338 p.A113V 0.987 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 375 3 0.79 370 134 26.33 - - - RPS6 0 genome.wustl.edu 37 9 19380191 19380191 + Missense_Mutation SNP C C T TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 9 19380191 19380191 C T SNP RPS6 ENST00000380394 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk - no_errors RPS6 HGNC ENSG00000137154 133 1 0.75 150 67 30.88 - - - SIN3B 0 genome.wustl.edu 37 19 16965008 16965008 + Missense_Mutation SNP G G A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 19 16965008 16965008 G A SNP SIN3B ENST00000379803 human ensembl 69_37n +1 known missense c.994 p.A332T 0.987 pfam_PAH,superfamily_PAH pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 77 0 0.00 92 17 15.60 - - - ZNF366 0 genome.wustl.edu 37 5 71739899 71739899 + Missense_Mutation SNP T T A TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1a59cd97-2ee8-4f82-b542-e2f35171bc01 a2afc239-b11b-4105-a2da-b183e9e78247 5 71739899 71739899 T A SNP ZNF366 ENST00000318442 human ensembl 69_37n -1 known missense c.1919 p.Q640L 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 59 0 0.00 60 28 31.46 - - -