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 CDK5RAP2 0 genome.wustl.edu 37 9 123210362 123210362 + Missense_Mutation SNP G G A TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 9 123210362 123210362 G A SNP CDK5RAP2 ENST00000349780 human ensembl 69_37n -1 known missense c.2836 p.R946W 0.008 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 156 0 0.00 139 22 13.66 - - - CTAGE5 0 genome.wustl.edu 37 14 39788473 39788473 + Silent SNP T T A TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 14 39788473 39788473 T A SNP CTAGE5 ENST00000396158 human ensembl 69_37n +1 known silent c.1536 p.V512 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 114 0 0.00 101 32 24.06 - - - CTAGE5 0 genome.wustl.edu 37 14 39788474 39788474 + Missense_Mutation SNP C C A TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 14 39788474 39788474 C A SNP CTAGE5 ENST00000396158 human ensembl 69_37n +1 known missense c.1537 p.P513T 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 114 0 0.00 99 33 25.00 - - - MAP2K5 0 genome.wustl.edu 37 15 67873162 67873162 + Splice_Site SNP G G C TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 15 67873162 67873162 G C SNP MAP2K5 ENST00000178640 human ensembl 69_37n +1 known splice_site c.322+1 e4+1 1.000 - - - no_errors MAP2K5 HGNC ENSG00000137764 169 0 0.00 137 41 23.03 - - - MEFV 0 genome.wustl.edu 37 16 3306365 3306365 + Silent SNP G G T TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 16 3306365 3306365 G T SNP MEFV ENST00000219596 human ensembl 69_37n -1 known silent c.223 p.R75 0.351 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 26 0 0.00 17 6 26.09 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1035 p.N345K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 39 10 20.41 - - - POTEE 0 genome.wustl.edu 37 2 132022031 132022031 + Silent SNP C C T TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 2 132022031 132022031 C T SNP POTEE ENST00000356920 human ensembl 69_37n +1 known silent c.3003 p.G1001 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors AC131180.1 Clone_based_ensembl_gene ENSG00000188219 8 0 0.00 8 8 50.00 - - - PRIC285 0 genome.wustl.edu 37 20 62193251 62193251 + Frame_Shift_Del DEL G G - TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 20 62193251 62193251 G - DEL PRIC285 ENST00000467148 human ensembl 69_37n -1 known frame_shift_del c.6616 p.R2206fs 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors RP4-697K14.7 Clone_based_vega_gene ENSG00000130589 12 0 0.00 6 3 33.33 - - - RASGEF1C 0 genome.wustl.edu 37 5 179564989 179564989 + Missense_Mutation SNP C C T TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 5 179564989 179564989 C T SNP RASGEF1C ENST00000361132 human ensembl 69_37n -1 known missense c.64 p.E22K 0.454 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 64 0 0.00 36 21 36.21 - - - SCN9A 0 genome.wustl.edu 37 2 167099093 167099093 + Silent SNP C C T TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 2 167099093 167099093 C T SNP SCN9A ENST00000303354 human ensembl 69_37n -1 known silent c.3549 p.R1183 0.995 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 149 0 0.00 135 27 16.67 - - - SIPA1L3 0 genome.wustl.edu 37 19 38655323 38655323 + Missense_Mutation SNP C C T TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 19 38655323 38655323 C T SNP SIPA1L3 ENST00000222345 human ensembl 69_37n +1 known missense c.3985 p.P1329S 0.016 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 38 0 0.00 32 5 13.51 - - - SPEN 0 genome.wustl.edu 37 1 16258660 16258661 + Frame_Shift_Del DEL CA CA - TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 1 16258660 16258661 CA - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.5925_5926 p.K1976fs 0.124:0.296 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 13 0 0.00 6 3 33.33 - - - THSD7A 0 genome.wustl.edu 37 7 11509516 11509516 + Silent SNP C C T TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 7 11509516 11509516 C T SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known silent c.2358 p.S786 0.006 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 70 0 0.00 52 12 18.75 - - - TRPC5 0 genome.wustl.edu 37 X 111155993 111155993 + Missense_Mutation SNP G G T TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 X 111155993 111155993 G T SNP TRPC5 ENST00000262839 human ensembl 69_37n -1 known missense c.426 p.D142E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 136 0 0.00 96 28 22.58 - - - ZNFX1 0 genome.wustl.edu 37 20 47881273 47881273 + Missense_Mutation SNP G G T TCGA-A2-A0YI-01A-31D-A10M-09 TCGA-A2-A0YI-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2ae968-c977-4b65-869a-5e96ff3216e9 9764d7b0-0bbc-44e5-9207-2215d542ed54 20 47881273 47881273 G T SNP ZNFX1 ENST00000371752 human ensembl 69_37n -1 known missense c.2131 p.L711I 1.000 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 162 0 0.00 118 27 18.62 - - -