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 A2M 0 genome.wustl.edu 37 12 9230409 9230409 + Missense_Mutation SNP T T C TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 12 9230409 9230409 T C SNP A2M ENST00000318602 human ensembl 69_37n -1 known missense c.3164 p.Y1055C 0.143 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 275 0 0.00 292 57 16.33 - - - BIRC8 0 genome.wustl.edu 37 19 53793366 53793366 + Missense_Mutation SNP C C G TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 19 53793366 53793366 C G SNP BIRC8 ENST00000426466 human ensembl 69_37n -1 known missense c.262 p.E88Q 0.531 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 524 0 0.00 1590 340 17.61 - - - C11orf40 0 genome.wustl.edu 37 11 4593466 4593466 + Missense_Mutation SNP G G C TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 11 4593466 4593466 G C SNP C11orf40 ENST00000307616 human ensembl 69_37n -1 known missense c.367 p.L123V 0.286 NULL NULL - no_errors C11orf40 HGNC ENSG00000171987 249 0 0.00 266 38 12.50 - - - C9orf114 0 genome.wustl.edu 37 9 131587316 131587316 + Missense_Mutation SNP C C T TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 9 131587316 131587316 C T SNP C9orf114 ENST00000361256 human ensembl 69_37n -1 known missense c.652 p.D218N 1.000 pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC ENSG00000198917 101 0 0.00 90 24 21.05 - - - CAMK1 0 genome.wustl.edu 37 3 9803438 9803438 + Missense_Mutation SNP C C T TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 3 9803438 9803438 C T SNP CAMK1 ENST00000256460 human ensembl 69_37n -1 known missense c.433 p.E145K 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_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 - no_errors CAMK1 HGNC ENSG00000134072 134 0 0.00 212 44 17.19 - - - CCDC88B 0 genome.wustl.edu 37 11 64111763 64111763 + Missense_Mutation SNP G G A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 11 64111763 64111763 G A SNP CCDC88B ENST00000356786 human ensembl 69_37n +1 known missense c.1750 p.E584K 0.825 NULL pfam_HOOK - no_errors CCDC88B HGNC ENSG00000168071 28 0 0.00 28 5 15.15 - - - COL6A3 0 genome.wustl.edu 37 2 238303252 238303252 + Silent SNP C C T TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 2 238303252 238303252 C T SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known silent c.687 p.T229 0.722 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 261 0 0.00 244 84 25.61 - - - DMD 0 genome.wustl.edu 37 X 32717338 32717338 + Missense_Mutation SNP T T C TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a X 32717338 32717338 T C SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.722 p.Q241R 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 392 0 0.00 517 81 13.55 - - - EMC1 0 genome.wustl.edu 37 1 19559537 19559537 + Missense_Mutation SNP C C T TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 1 19559537 19559537 C T SNP EMC1 ENST00000477853 human ensembl 69_37n -1 known missense c.1525 p.A509T 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like - no_errors EMC1 HGNC ENSG00000127463 201 0 0.00 210 34 13.93 - - - ENOPH1 0 genome.wustl.edu 37 4 83375938 83375938 + Missense_Mutation SNP C C G TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 4 83375938 83375938 C G SNP ENOPH1 ENST00000273920 human ensembl 69_37n +1 known missense c.453 p.I151M 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_Enolase_ppase,tigrfam_HAD-SF_hydro_IA_v1 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_Enolase_ppase,tigrfam_HAD-SF_hydro_IA_v1 - no_errors ENOPH1 HGNC ENSG00000145293 464 0 0.00 651 144 18.11 - - - FRAS1 0 genome.wustl.edu 37 4 79396611 79396611 + Missense_Mutation SNP G G A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 4 79396611 79396611 G A SNP FRAS1 ENST00000264895 human ensembl 69_37n +1 known missense c.7702 p.A2568T 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 211 0 0.00 267 64 19.34 - - - ITGAX 0 genome.wustl.edu 37 16 31393187 31393187 + Missense_Mutation SNP G G A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 16 31393187 31393187 G A SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known missense c.3451 p.E1151K 0.001 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAX HGNC ENSG00000140678 268 1 0.37 344 98 22.12 - - - KLHL35 0 genome.wustl.edu 37 11 75133746 75133746 + Missense_Mutation SNP C C T TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 11 75133746 75133746 C T SNP KLHL35 ENST00000539798 human ensembl 69_37n -1 known missense c.1630 p.E544K 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL35 HGNC ENSG00000149243 71 0 0.00 94 13 12.15 - - - MAPKAPK3 0 genome.wustl.edu 37 3 50679183 50679183 + Missense_Mutation SNP C C A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 3 50679183 50679183 C A SNP MAPKAPK3 ENST00000357955 human ensembl 69_37n +1 known missense c.405 p.D135E 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 378 0 0.00 648 88 11.92 - - - NDUFAF1 0 genome.wustl.edu 37 15 41687218 41687219 + Frame_Shift_Del DEL AA AA - TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 15 41687218 41687219 AA - DEL NDUFAF1 ENST00000260361 human ensembl 69_37n -1 known frame_shift_del c.598_597 p.Y200fs 0.999:0.939 pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like - no_errors NDUFAF1 HGNC ENSG00000137806 294 0 0.00 251 62 19.25 - - - OR6C65 0 genome.wustl.edu 37 12 55794894 55794894 + Silent SNP G G A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 12 55794894 55794894 G A SNP OR6C65 ENST00000379665 human ensembl 69_37n +1 known silent c.582 p.E194 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C65 HGNC ENSG00000205328 464 0 0.00 581 166 22.22 - - - PIK3CA 0 genome.wustl.edu 37 3 178952054 178952054 + Missense_Mutation SNP G G A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 3 178952054 178952054 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3109 p.E1037K 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 206 0 0.00 168 54 24.22 - - - PRAMEF14 0 genome.wustl.edu 37 1 13668994 13668994 + Missense_Mutation SNP G G T TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 1 13668994 13668994 G T SNP PRAMEF14 ENST00000334600 human ensembl 69_37n -1 known missense c.1336 p.Q446K 0.002 NULL NULL - no_errors PRAMEF14 HGNC ENSG00000204481 38 0 0.00 83 10 10.64 - - - PRCP 0 genome.wustl.edu 37 11 82536048 82536048 + Missense_Mutation SNP G G A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 11 82536048 82536048 G A SNP PRCP ENST00000393399 human ensembl 69_37n -1 known missense c.1454 p.A485V 0.032 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 207 0 0.00 244 66 21.29 - - - PRMT3 0 genome.wustl.edu 37 11 20486016 20486016 + Missense_Mutation SNP G G A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 11 20486016 20486016 G A SNP PRMT3 ENST00000331079 human ensembl 69_37n +1 known missense c.1271 p.C424Y 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 304 0 0.00 251 33 11.58 - - - RCE1 0 genome.wustl.edu 37 11 66613002 66613002 + Silent SNP T T G TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 11 66613002 66613002 T G SNP RCE1 ENST00000309657 human ensembl 69_37n +1 known silent c.723 p.G241 0.997 pfam_CAAX_protease pfam_CAAX_protease - no_errors RCE1 HGNC ENSG00000173653 266 2 0.75 235 140 37.23 - - - SECISBP2L 0 genome.wustl.edu 37 15 49309150 49309150 + Silent SNP G G A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 15 49309150 49309150 G A SNP SECISBP2L ENST00000559471 human ensembl 69_37n -1 known silent c.1314 p.T438 0.960 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 410 0 0.00 391 53 11.94 - - - SHPRH 0 genome.wustl.edu 37 6 146276233 146276233 + Missense_Mutation SNP C C G TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 6 146276233 146276233 C G SNP SHPRH ENST00000367503 human ensembl 69_37n -1 known missense c.226 p.V76L 0.000 NULL pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 243 1 0.41 226 31 12.06 - - - SLC26A9 0 genome.wustl.edu 37 1 205899028 205899028 + Missense_Mutation SNP T T C TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 1 205899028 205899028 T C SNP SLC26A9 ENST00000340781 human ensembl 69_37n -1 known missense c.709 p.I237V 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 62 0 0.00 95 13 11.93 - - - SLC9A6 0 genome.wustl.edu 37 X 135126700 135126700 + Silent SNP T T A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a X 135126700 135126700 T A SNP SLC9A6 ENST00000370695 human ensembl 69_37n +1 known silent c.1923 p.T641 0.053 prints_Na/H_exchanger_6 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 177 0 0.00 193 45 18.75 - - - SPEN 0 genome.wustl.edu 37 1 16262615 16262615 + Nonsense_Mutation SNP C C T TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 1 16262615 16262615 C T SNP SPEN ENST00000375759 human ensembl 69_37n +1 known nonsense c.9880 p.Q3294* 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 57 0 0.00 70 17 19.10 - - - SPRED1 0 genome.wustl.edu 37 15 38614571 38614571 + Missense_Mutation SNP G G A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 15 38614571 38614571 G A SNP SPRED1 ENST00000299084 human ensembl 69_37n +1 known missense c.337 p.D113N 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED1 HGNC ENSG00000166068 424 0 0.00 348 48 12.12 - - - TP53 0 genome.wustl.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 17 7576855 7576855 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.991 p.Q331* 0.999 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 374 0 0.00 322 114 26.15 - - - WNK2 0 genome.wustl.edu 37 9 96051418 96051418 + Missense_Mutation SNP A A C TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3c1b990-aae2-45f8-be28-8ccd192a0fab 7f061cf1-1d86-453c-9817-cf0cba8ea87a 9 96051418 96051418 A C SNP WNK2 ENST00000297954 human ensembl 69_37n +1 known missense c.4493 p.E1498A 0.054 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC ENSG00000165238 9 0 0.00 7 8 53.33 - - -