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 ABCA13 0 genome.wustl.edu 37 7 48338055 48338055 + Missense_Mutation SNP A A T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 7 48338055 48338055 A T SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.9292 p.I3098F 0.006 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 281 0 0.00 343 225 39.54 - - - ADRA2B 0 genome.wustl.edu 37 2 96780849 96780849 + Missense_Mutation SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 2 96780849 96780849 C T SNP ADRA2B ENST00000409345 human ensembl 69_37n -1 known missense c.1040 p.G347D 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A2B pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A2B,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA2B HGNC ENSG00000222040 33 0 0.00 108 14 11.38 - - - AP2M1 0 genome.wustl.edu 37 3 183896904 183896904 + Missense_Mutation SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 183896904 183896904 C A SNP AP2M1 ENST00000292807 human ensembl 69_37n +1 known missense c.334 p.L112M 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 113 0 0.00 58 59 50.43 - - - ARAP3 0 genome.wustl.edu 37 5 141051178 141051178 + Missense_Mutation SNP T T C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 5 141051178 141051178 T C SNP ARAP3 ENST00000239440 human ensembl 69_37n -1 known missense c.1813 p.K605E 0.977 pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 28 0 0.00 20 8 28.57 - - - ASL 0 genome.wustl.edu 37 7 65547366 65547366 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 7 65547366 65547366 G C SNP ASL ENST00000304874 human ensembl 69_37n +1 known missense c.219 p.E73D 1.000 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 64 0 0.00 104 24 18.46 - - - ATP13A4 0 genome.wustl.edu 37 3 193188758 193188758 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 193188758 193188758 C G SNP ATP13A4 ENST00000342695 human ensembl 69_37n -1 known missense c.833 p.R278P 0.294 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ENSG00000127249 102 0 0.00 96 21 17.95 - - - AZGP1 0 genome.wustl.edu 37 7 99565858 99565858 + Missense_Mutation SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 7 99565858 99565858 G A SNP AZGP1 ENST00000292401 human ensembl 69_37n -1 known missense c.533 p.A178V 0.000 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,prints_MHC_I_a_a1/a2 - no_errors AZGP1 HGNC ENSG00000160862 173 0 0.00 175 156 46.85 - - - BCORL1 0 genome.wustl.edu 37 X 129147782 129147782 + Missense_Mutation SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 X 129147782 129147782 C T SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known missense c.1034 p.T345M 0.983 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 113 0 0.00 120 50 29.41 - - - BMS1P4 0 genome.wustl.edu 37 10 75482195 75482195 + RNA SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 10 75482195 75482195 C T SNP BMS1P4 ENST00000399449 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 105 0 0.00 104 144 57.83 - - - BOD1L1 0 genome.wustl.edu 37 4 13606196 13606196 + Missense_Mutation SNP A A T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 4 13606196 13606196 A T SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known missense c.2328 p.S776R 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 412 0 0.00 376 150 28.52 - - - BRD9 0 genome.wustl.edu 37 5 865540 865540 + Missense_Mutation SNP T T A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 5 865540 865540 T A SNP BRD9 ENST00000467963 human ensembl 69_37n -1 known missense c.1682 p.Q561L 0.993 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 51 0 0.00 69 25 26.60 - - - C3orf77 0 genome.wustl.edu 37 3 44283717 44283717 + Missense_Mutation SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 44283717 44283717 C A SNP C3orf77 ENST00000309765 human ensembl 69_37n +1 known missense c.172 p.P58T 0.003 NULL NULL - no_errors C3orf77 HGNC ENSG00000173769 22 0 0.00 16 10 38.46 - - - C7orf60 0 genome.wustl.edu 37 7 112462311 112462311 + Nonsense_Mutation SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 7 112462311 112462311 C A SNP C7orf60 ENST00000297145 human ensembl 69_37n -1 known nonsense c.706 p.E236* 1.000 pfam_DUF3321 pfam_DUF3321 - no_errors C7orf60 HGNC ENSG00000164603 72 0 0.00 105 67 38.95 - - - C9orf174 0 genome.wustl.edu 37 9 100092921 100092921 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 9 100092921 100092921 C G SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known missense c.2278 p.Q760E 0.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 104 0 0.00 77 38 33.04 - - - CACNA1F 0 genome.wustl.edu 37 X 49076144 49076144 + Missense_Mutation SNP A A G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 X 49076144 49076144 A G SNP CACNA1F ENST00000376265 human ensembl 69_37n -1 known missense c.2525 p.V842A 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 216 2 0.90 318 92 22.38 - - - CASQ1 0 genome.wustl.edu 37 1 160167383 160167383 + Silent SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 160167383 160167383 G A SNP CASQ1 ENST00000368078 human ensembl 69_37n +1 known silent c.807 p.P269 0.231 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 123 0 0.00 109 120 52.40 - - - CASQ2 0 genome.wustl.edu 37 1 116280870 116280870 + Frame_Shift_Del DEL G G - TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 116280870 116280870 G - DEL CASQ2 ENST00000261448 human ensembl 69_37n -1 known frame_shift_del c.507 p.F171fs 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ2 HGNC ENSG00000118729 206 0 0.00 246 126 32.31 - - - CCNL2 0 genome.wustl.edu 37 1 1328842 1328842 + Splice_Site SNP T T C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 1328842 1328842 T C SNP CCNL2 ENST00000400809 human ensembl 69_37n -1 known splice_site c.595-2 e5-2 1.000 - - - no_errors CCNL2 HGNC ENSG00000221978 87 0 0.00 32 100 75.76 - - - CD33 0 genome.wustl.edu 37 19 51728821 51728821 + Missense_Mutation SNP T T C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 19 51728821 51728821 T C SNP CD33 ENST00000262262 human ensembl 69_37n +1 known missense c.385 p.Y129H 0.004 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD33 HGNC ENSG00000105383 38 0 0.00 52 19 26.76 - - - CDH11 0 genome.wustl.edu 37 16 65025783 65025783 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 16 65025783 65025783 G C SNP CDH11 ENST00000268603 human ensembl 69_37n -1 known missense c.699 p.H233Q 0.358 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 257 0 0.00 331 119 26.39 - - - CHST9 0 genome.wustl.edu 37 18 24496887 24496887 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 18 24496887 24496887 C G SNP CHST9 ENST00000284224 human ensembl 69_37n -1 known missense c.668 p.G223A 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 241 0 0.00 88 423 82.62 - - - COL18A1 0 genome.wustl.edu 37 21 46897375 46897375 + Missense_Mutation SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 21 46897375 46897375 C T SNP COL18A1 ENST00000359759 human ensembl 69_37n +1 known missense c.2224 p.R742W 0.000 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 39 0 0.00 97 21 17.65 - - - CPA1 0 genome.wustl.edu 37 7 130023284 130023284 + Missense_Mutation SNP A A G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 7 130023284 130023284 A G SNP CPA1 ENST00000011292 human ensembl 69_37n +1 known missense c.536 p.H179R 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 94 0 0.00 132 90 40.54 - - - CROCC 0 genome.wustl.edu 37 1 17266458 17266458 + Nonsense_Mutation SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 17266458 17266458 G T SNP CROCC ENST00000375541 human ensembl 69_37n +1 known nonsense c.1678 p.E560* 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 14 0 0.00 23 14 37.84 - - - CYSLTR1 0 genome.wustl.edu 37 X 77528833 77528833 + Missense_Mutation SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 X 77528833 77528833 C A SNP CYSLTR1 ENST00000373304 human ensembl 69_37n -1 known missense c.411 p.Q137H 0.997 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors CYSLTR1 HGNC ENSG00000173198 172 0 0.00 248 222 47.23 - - - DENND5B 0 genome.wustl.edu 37 12 31551140 31551140 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 12 31551140 31551140 C G SNP DENND5B ENST00000306833 human ensembl 69_37n -1 known missense c.3330 p.L1110F 0.868 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 159 0 0.00 289 123 29.85 - - - DHX30 0 genome.wustl.edu 37 3 47889002 47889002 + Nonsense_Mutation SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 47889002 47889002 G T SNP DHX30 ENST00000445061 human ensembl 69_37n +1 known nonsense c.2086 p.E696* 0.877 smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 43 0 0.00 31 16 34.04 - - - DKK3 0 genome.wustl.edu 37 11 12023920 12023920 + Missense_Mutation SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 11 12023920 12023920 C T SNP DKK3 ENST00000326932 human ensembl 69_37n -1 known missense c.278 p.S93N 0.978 NULL pfam_Dickkopf_N - no_errors DKK3 HGNC ENSG00000050165 427 0 0.00 378 213 36.04 - - - DST 0 genome.wustl.edu 37 6 56473155 56473155 + Missense_Mutation SNP A A C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 6 56473155 56473155 A C SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.6172 p.L2058V 0.046 pfam_Plectin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 222 0 0.00 247 121 32.88 - - - EIF3M 0 genome.wustl.edu 37 11 32608625 32608625 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 11 32608625 32608625 G C SNP EIF3M ENST00000531120 human ensembl 69_37n +1 known missense c.110 p.G37A 1.000 NULL pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom - no_errors EIF3M HGNC ENSG00000149100 271 0 0.00 96 178 64.96 - - - FAM190B 0 genome.wustl.edu 37 10 86198279 86198279 + Missense_Mutation SNP A A T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 10 86198279 86198279 A T SNP FAM190B ENST00000372088 human ensembl 69_37n +1 known missense c.1880 p.Y627F 1.000 NULL NULL - no_errors FAM190B HGNC ENSG00000107771 212 0 0.00 236 66 21.85 - - - FAM46A 0 genome.wustl.edu 37 6 82461445 82461445 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 6 82461445 82461445 C G SNP FAM46A ENST00000369756 human ensembl 69_37n -1 known missense c.657 p.K219N 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 15 0 0.00 16 17 51.52 - - - FAM65C 0 genome.wustl.edu 37 20 49208955 49208955 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 20 49208955 49208955 C G SNP FAM65C ENST00000535356 human ensembl 69_37n -1 known missense c.2503 p.G835R 0.984 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 24 0 0.00 11 18 62.07 - - - FAM92A1P2 0 genome.wustl.edu 37 4 183959891 183959891 + RNA SNP A A T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 4 183959891 183959891 A T SNP FAM92A1P2 ENST00000502308 human ensembl 69_37n +1 known rna NULL NULL 0.950 - - - no_errors FAM92A1P2 HGNC ENSG00000230219 42 0 0.00 32 6 15.79 - - - FIG4 0 genome.wustl.edu 37 6 110107520 110107520 + Missense_Mutation SNP A A T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 6 110107520 110107520 A T SNP FIG4 ENST00000230124 human ensembl 69_37n +1 known missense c.1964 p.N655I 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 179 0 0.00 347 68 16.39 - - - FOLH1 0 genome.wustl.edu 37 11 49190796 49190796 + Silent SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 11 49190796 49190796 G A SNP FOLH1 ENST00000256999 human ensembl 69_37n -1 known silent c.1323 p.L441 0.998 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 278 0 0.00 281 153 35.25 - - - FTSJD1 0 genome.wustl.edu 37 16 71319781 71319781 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 16 71319781 71319781 G C SNP FTSJD1 ENST00000338099 human ensembl 69_37n -1 known missense c.43 p.P15A 0.001 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJD1 HGNC ENSG00000180917 76 0 0.00 133 40 23.12 - - - GALNT9 0 genome.wustl.edu 37 12 132862937 132862937 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 12 132862937 132862937 G C SNP GALNT9 ENST00000328957 human ensembl 69_37n -1 known missense c.318 p.D106E 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 21 0 0.00 26 12 31.58 - - - GALNTL5 0 genome.wustl.edu 37 7 151716746 151716746 + Nonsense_Mutation SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 7 151716746 151716746 C T SNP GALNTL5 ENST00000392800 human ensembl 69_37n +1 known nonsense c.1192 p.R398* 0.001 NULL pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 178 0 0.00 62 136 68.34 - - - GBF1 0 genome.wustl.edu 37 10 104128052 104128052 + Missense_Mutation SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 10 104128052 104128052 G T SNP GBF1 ENST00000369983 human ensembl 69_37n +1 known missense c.2717 p.R906L 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 205 0 0.00 154 83 35.02 - - - GGTLC1 0 genome.wustl.edu 37 20 23966412 23966412 + Silent SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 20 23966412 23966412 G T SNP GGTLC1 ENST00000278765 human ensembl 69_37n -1 known silent c.423 p.I141 1.000 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 166 1 0.60 260 68 20.54 - - - GK5 0 genome.wustl.edu 37 3 141890304 141890304 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 141890304 141890304 C G SNP GK5 ENST00000392993 human ensembl 69_37n -1 known missense c.1264 p.E422Q 1.000 pfam_Carb_kinase_FGGY_C pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC ENSG00000175066 233 1 0.43 683 143 17.31 - - - GPR137B 0 genome.wustl.edu 37 1 236341802 236341802 + Missense_Mutation SNP T T C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 236341802 236341802 T C SNP GPR137B ENST00000366592 human ensembl 69_37n +1 known missense c.553 p.W185R 0.449 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 278 0 0.00 421 194 31.54 - - - GREB1L 0 genome.wustl.edu 37 18 19020262 19020262 + Nonsense_Mutation SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 18 19020262 19020262 C T SNP GREB1L ENST00000424526 human ensembl 69_37n +1 known nonsense c.982 p.R328* 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 137 0 0.00 53 149 73.40 - - - GRIA3 0 genome.wustl.edu 37 X 122538638 122538638 + Missense_Mutation SNP T T C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 X 122538638 122538638 T C SNP GRIA3 ENST00000264357 human ensembl 69_37n +1 known missense c.1373 p.L458P 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 242 0 0.00 321 103 24.29 - - - HLA-DMB 0 genome.wustl.edu 37 6 32905029 32905029 + Missense_Mutation SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 6 32905029 32905029 G T SNP HLA-DMB ENST00000418107 human ensembl 69_37n -1 known missense c.542 p.A181D 0.826 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC ENSG00000242574 86 0 0.00 119 42 25.93 - - - HNRNPF 0 genome.wustl.edu 37 10 43883017 43883017 + Missense_Mutation SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 10 43883017 43883017 C T SNP HNRNPF ENST00000337970 human ensembl 69_37n -1 known missense c.316 p.D106N 0.978 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 153 1 0.65 300 79 20.84 - - - HOMER2 0 genome.wustl.edu 37 15 83523466 83523466 + Missense_Mutation SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 15 83523466 83523466 G T SNP HOMER2 ENST00000304231 human ensembl 69_37n -1 known missense c.614 p.A205E 0.164 NULL pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER2 HGNC ENSG00000103942 37 0 0.00 24 35 59.32 - - - ITGB2 0 genome.wustl.edu 37 21 46309979 46309979 + Missense_Mutation SNP A A T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 21 46309979 46309979 A T SNP ITGB2 ENST00000302347 human ensembl 69_37n -1 known missense c.1571 p.V524D 0.004 pirsf_Integrin_bsu,pfam_EGF_extracell pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 47 0 0.00 75 20 21.05 - - - ITIH6 0 genome.wustl.edu 37 X 54780124 54780124 + Missense_Mutation SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 X 54780124 54780124 G T SNP ITIH6 ENST00000218436 human ensembl 69_37n -1 known missense c.3312 p.H1104Q 0.001 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 271 0 0.00 218 109 33.23 - - - KCND3 0 genome.wustl.edu 37 1 112524764 112524764 + Silent SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 112524764 112524764 G A SNP KCND3 ENST00000315987 human ensembl 69_37n -1 known silent c.585 p.V195 0.991 prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 27 0 0.00 26 20 43.48 - - - KGFLP2 0 genome.wustl.edu 37 9 41962410 41962410 + RNA SNP T T A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 9 41962410 41962410 T A SNP KGFLP2 ENST00000454645 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 15 0 0.00 16 7 30.43 - - - KHDC1L 0 genome.wustl.edu 37 6 73951884 73951884 + Silent SNP A A G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 6 73951884 73951884 A G SNP KHDC1L ENST00000423730 human ensembl 69_37n -1 known silent c.189 p.A63 0.007 NULL NULL - no_errors KHDC1L HGNC ENSG00000243501 153 0 0.00 113 156 57.99 - - - KRTAP5-4 0 genome.wustl.edu 37 11 1643059 1643059 + Missense_Mutation SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 11 1643059 1643059 C A SNP KRTAP5-4 ENST00000399682 human ensembl 69_37n -1 known missense c.265 p.G89W 0.633 NULL NULL - no_errors KRTAP5-4 HGNC ENSG00000241598 103 0 0.00 130 35 21.21 - - - LAT 0 genome.wustl.edu 37 16 28997485 28997485 + Missense_Mutation SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 16 28997485 28997485 C A SNP LAT ENST00000395461 human ensembl 69_37n +1 known missense c.301 p.P101T 0.027 prints_Linker_for_activat_Tcells_prot prints_Linker_for_activat_Tcells_prot - no_errors LAT HGNC ENSG00000213658 35 0 0.00 50 10 16.67 - - - LCE2B 0 genome.wustl.edu 37 1 152659424 152659424 + Missense_Mutation SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 152659424 152659424 G T SNP LCE2B ENST00000368780 human ensembl 69_37n +1 known missense c.105 p.Q35H 0.360 NULL NULL - no_errors LCE2B HGNC ENSG00000159455 273 0 0.00 670 155 18.77 - - - LEMD2 0 genome.wustl.edu 37 6 33752167 33752167 + Missense_Mutation SNP A A G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 6 33752167 33752167 A G SNP LEMD2 ENST00000293760 human ensembl 69_37n -1 known missense c.815 p.L272P 0.999 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors LEMD2 HGNC ENSG00000161904 60 0 0.00 49 26 34.67 - - - MAGEB4 0 genome.wustl.edu 37 X 30260876 30260876 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 X 30260876 30260876 C G SNP MAGEB4 ENST00000378982 human ensembl 69_37n +1 known missense c.624 p.I208M 0.004 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 128 0 0.00 140 43 23.50 - - - MBNL2 0 genome.wustl.edu 37 13 97928584 97928584 + Missense_Mutation SNP A A C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 13 97928584 97928584 A C SNP MBNL2 ENST00000376673 human ensembl 69_37n +1 known missense c.95 p.E32A 1.000 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 156 0 0.00 210 76 26.57 - - - MBOAT4 0 genome.wustl.edu 37 8 29990295 29990295 + Missense_Mutation SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 8 29990295 29990295 G A SNP MBOAT4 ENST00000320542 human ensembl 69_37n -1 known missense c.472 p.H158Y 0.035 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT4 HGNC ENSG00000177669 35 0 0.00 55 13 18.84 - - - MPLKIP 0 genome.wustl.edu 37 7 40172716 40172716 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 7 40172716 40172716 C G SNP MPLKIP ENST00000306984 human ensembl 69_37n -1 known missense c.482 p.S161T 1.000 NULL NULL - no_errors MPLKIP HGNC ENSG00000168303 330 0 0.00 607 115 15.91 - - - MRPL49 0 genome.wustl.edu 37 11 64889852 64889852 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 11 64889852 64889852 G C SNP MRPL49 ENST00000279242 human ensembl 69_37n +1 known missense c.34 p.G12R 0.000 NULL pfam_Ribosomal_L49/IMG2 - no_errors MRPL49 HGNC ENSG00000149792 97 0 0.00 99 98 49.75 - - - MTMR12 0 genome.wustl.edu 37 5 32233994 32233994 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 5 32233994 32233994 G C SNP MTMR12 ENST00000382142 human ensembl 69_37n -1 known missense c.1559 p.T520S 1.000 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 152 0 0.00 245 85 25.76 - - - MUC2 0 genome.wustl.edu 37 11 1101932 1101932 + Missense_Mutation SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 11 1101932 1101932 C A SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.7696 p.H2566N 0.092 smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 92 0 0.00 59 35 37.23 - - - MUC20 0 genome.wustl.edu 37 3 195452951 195452951 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 195452951 195452951 G C SNP MUC20 ENST00000447234 human ensembl 69_37n +1 known missense c.1477 p.D493H 0.004 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 40 0 0.00 29 5 14.71 - - - MUC4 0 genome.wustl.edu 37 3 195506037 195506037 + Silent SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 195506037 195506037 G T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.12414 p.S4138 0.012 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 112 0 0.00 73 22 23.16 - - - MUC4 0 genome.wustl.edu 37 3 195506775 195506775 + Silent SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 195506775 195506775 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.11676 p.T3892 0.996 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 76 0 0.00 38 6 13.33 - - - MUC4 0 genome.wustl.edu 37 3 195508108 195508108 + Missense_Mutation SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 195508108 195508108 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.10343 p.S3448L 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 107 0 0.00 94 12 11.32 - - - MUC4 0 genome.wustl.edu 37 3 195511465 195511465 + Missense_Mutation SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 195511465 195511465 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.6986 p.A2329V 0.040 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 107 0 0.00 142 18 11.25 - - - MUC4 0 genome.wustl.edu 37 3 195512343 195512343 + Silent SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 195512343 195512343 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.6108 p.T2036 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 70 0 0.00 79 15 15.96 - - - NBPF12 0 genome.wustl.edu 37 1 146408106 146408107 + Frame_Shift_Ins INS - - A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 146408106 146408107 - A INS NBPF12 ENST00000446760 human ensembl 69_37n +1 known frame_shift_ins c.927_928 p.E310fs 0.000:0.001 NULL pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 131 0 0.00 261 247 48.62 - - - NDST4 0 genome.wustl.edu 37 4 115791933 115791933 + Silent SNP A A G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 4 115791933 115791933 A G SNP NDST4 ENST00000264363 human ensembl 69_37n -1 known silent c.1710 p.P570 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST4 HGNC ENSG00000138653 146 0 0.00 136 175 56.09 - - - NEB 0 genome.wustl.edu 37 2 152527544 152527544 + Missense_Mutation SNP A A T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 2 152527544 152527544 A T SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.4499 p.L1500Q 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 145 0 0.00 127 64 33.51 - - - NEBL 0 genome.wustl.edu 37 10 21097581 21097581 + Silent SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 10 21097581 21097581 C A SNP NEBL ENST00000377122 human ensembl 69_37n -1 known silent c.2619 p.A873 0.749 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 57 0 0.00 82 19 18.81 - - - NES 0 genome.wustl.edu 37 1 156640029 156640029 + Silent SNP T T C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 156640029 156640029 T C SNP NES ENST00000368223 human ensembl 69_37n -1 known silent c.3951 p.G1317 0.971 NULL pfam_F - no_errors NES HGNC ENSG00000132688 31 0 0.00 56 9 13.85 - - - NME7 0 genome.wustl.edu 37 1 169292459 169292459 + Missense_Mutation SNP T T G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 169292459 169292459 T G SNP NME7 ENST00000367811 human ensembl 69_37n -1 known missense c.174 p.E58D 0.999 smart_Uncharacterised_DM10,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 322 1 0.31 496 178 26.37 - - - NTRK3 0 genome.wustl.edu 37 15 88678619 88678619 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 15 88678619 88678619 C G SNP NTRK3 ENST00000360948 human ensembl 69_37n -1 known missense c.917 p.R306P 0.210 prints_Tyr_kin_neurotrophic_rcpt_3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 56 0 0.00 63 24 27.59 - - - OBSCN 0 genome.wustl.edu 37 1 228506947 228506947 + Missense_Mutation SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 228506947 228506947 G A SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.14494 p.A4832T 0.375 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 26 0 0.00 53 7 11.67 - - - OBSCN 0 genome.wustl.edu 37 1 228509882 228509882 + Missense_Mutation SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 228509882 228509882 G A SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.15340 p.E5114K 0.003 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 35 0 0.00 87 24 21.62 - - - PFKP 0 genome.wustl.edu 37 10 3178021 3178021 + Missense_Mutation SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 10 3178021 3178021 C T SNP PFKP ENST00000381125 human ensembl 69_37n +1 known missense c.2216 p.T739M 1.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 167 0 0.00 392 64 14.04 - - - POTEM 0 genome.wustl.edu 37 14 20020113 20020113 + Silent SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 14 20020113 20020113 C T SNP POTEM ENST00000547848 human ensembl 69_37n -1 known silent c.108 p.R36 0.101 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 17 0 0.00 41 10 19.61 - - - PRKG2 0 genome.wustl.edu 37 4 82061764 82061764 + Missense_Mutation SNP T T C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 4 82061764 82061764 T C SNP PRKG2 ENST00000264399 human ensembl 69_37n -1 known missense c.1467 p.I489M 0.028 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,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 228 0 0.00 359 78 17.85 - - - PRUNE 0 genome.wustl.edu 37 1 151006389 151006389 + Silent SNP T T C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 151006389 151006389 T C SNP PRUNE ENST00000271620 human ensembl 69_37n +1 known silent c.1041 p.S347 0.998 pfam_DHHA2 pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 79 0 0.00 101 153 59.77 - - - PSMB11 0 genome.wustl.edu 37 14 23511785 23511785 + Silent SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 14 23511785 23511785 G T SNP PSMB11 ENST00000408907 human ensembl 69_37n +1 known silent c.351 p.L117 0.642 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 41 0 0.00 124 43 25.60 - - - RASGRP2 0 genome.wustl.edu 37 11 64503109 64503109 + Missense_Mutation SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 11 64503109 64503109 G A SNP RASGRP2 ENST00000377494 human ensembl 69_37n -1 known missense c.1201 p.P401S 0.804 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 73 0 0.00 69 29 29.59 - - - RBM14 0 genome.wustl.edu 37 11 66391939 66391939 + Missense_Mutation SNP T T C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 11 66391939 66391939 T C SNP RBM14 ENST00000310137 human ensembl 69_37n +1 known missense c.592 p.F198L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 44 0 0.00 41 10 19.61 - - - RNU6-46 0 genome.wustl.edu 37 11 67663113 67663113 + RNA SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 11 67663113 67663113 G A SNP RNU6-46 ENST00000383860 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RNU6-46 HGNC ENSG00000206587 150 0 0.00 105 15 12.40 - - - SDK2 0 genome.wustl.edu 37 17 71426721 71426721 + Missense_Mutation SNP A A T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 17 71426721 71426721 A T SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.1512 p.D504E 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 85 0 0.00 57 65 53.28 - - - SEC16B 0 genome.wustl.edu 37 1 177917055 177917055 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 177917055 177917055 C G SNP SEC16B ENST00000308284 human ensembl 69_37n -1 known missense c.1568 p.G523A 1.000 NULL NULL - no_errors SEC16B Clone_based_vega_gene ENSG00000120341 91 0 0.00 76 21 20.19 - - - SGPP1 0 genome.wustl.edu 37 14 64153112 64153112 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 14 64153112 64153112 G C SNP SGPP1 ENST00000247225 human ensembl 69_37n -1 known missense c.1037 p.S346C 0.665 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP1 HGNC ENSG00000126821 146 0 0.00 43 110 71.90 - - - SIGLEC9 0 genome.wustl.edu 37 19 51631731 51631731 + Silent SNP A A T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 19 51631731 51631731 A T SNP SIGLEC9 ENST00000440804 human ensembl 69_37n +1 known silent c.1167 p.I389 0.001 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SIGLEC9 HGNC ENSG00000129450 187 1 0.53 112 138 55.20 - - - SLC6A1 0 genome.wustl.edu 37 3 11070440 11070440 + Frame_Shift_Del DEL G G - TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 11070440 11070440 G - DEL SLC6A1 ENST00000287766 human ensembl 69_37n +1 known frame_shift_del c.1098 p.A367fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1 - no_errors SLC6A1 HGNC ENSG00000157103 66 0 0.00 94 79 45.40 - - - SLCO5A1 0 genome.wustl.edu 37 8 70588856 70588856 + Silent SNP A A G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 8 70588856 70588856 A G SNP SLCO5A1 ENST00000260126 human ensembl 69_37n -1 known silent c.2077 p.L693 0.573 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 131 0 0.00 211 39 15.60 - - - SNAP23 0 genome.wustl.edu 37 15 42805156 42805156 + Missense_Mutation SNP C C G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 15 42805156 42805156 C G SNP SNAP23 ENST00000249647 human ensembl 69_37n +1 known missense c.61 p.L21V 1.000 smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP23 HGNC ENSG00000092531 90 0 0.00 32 83 72.17 - - - SOGA1 0 genome.wustl.edu 37 20 35406195 35406195 + Missense_Mutation SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 20 35406195 35406195 C A SNP SOGA1 ENST00000279034 human ensembl 69_37n -1 known missense c.3033 p.Q1011H 0.002 NULL pfam_DUF3166 - no_errors SOGA1 HGNC ENSG00000149639 51 0 0.00 74 50 39.37 - - - SRCAP 0 genome.wustl.edu 37 16 30733960 30733960 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 16 30733960 30733960 G C SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.3783 p.Q1261H 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 52 0 0.00 67 16 19.28 - - - STAT5A 0 genome.wustl.edu 37 17 40460235 40460235 + Missense_Mutation SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 17 40460235 40460235 G A SNP STAT5A ENST00000345506 human ensembl 69_37n +1 known missense c.1946 p.R649Q 0.776 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 127 0 0.00 94 17 15.18 - - - SUGT1 0 genome.wustl.edu 37 13 53241054 53241054 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 13 53241054 53241054 G C SNP SUGT1 ENST00000343788 human ensembl 69_37n +1 known missense c.723 p.K241N 1.000 pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain pfam_SGS,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SUGT1 HGNC ENSG00000165416 173 0 0.00 354 79 18.24 - - - SYMPK 0 genome.wustl.edu 37 19 46321248 46321248 + Missense_Mutation SNP A A T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 19 46321248 46321248 A T SNP SYMPK ENST00000245934 human ensembl 69_37n -1 known missense c.3050 p.M1017K 1.000 pfam_Symplekin_C pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 52 0 0.00 37 14 27.45 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 26 0 0.00 53 11 17.19 - - - TDRD1 0 genome.wustl.edu 37 10 115986919 115986919 + Silent SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 10 115986919 115986919 G C SNP TDRD1 ENST00000251864 human ensembl 69_37n +1 known silent c.3264 p.V1088 1.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 91 0 0.00 76 39 33.91 - - - TEX11 0 genome.wustl.edu 37 X 70073144 70073144 + Missense_Mutation SNP G G A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 X 70073144 70073144 G A SNP TEX11 ENST00000344304 human ensembl 69_37n -1 known missense c.404 p.A135V 0.311 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 207 0 0.00 214 65 23.30 - - - TMEM108 0 genome.wustl.edu 37 3 133109180 133109180 + Splice_Site SNP T T A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 3 133109180 133109180 T A SNP TMEM108 ENST00000321871 human ensembl 69_37n +1 known splice_site c.1605+2 e3+2 1.000 - - - no_errors TMEM108 HGNC ENSG00000144868 94 0 0.00 161 69 30.00 - - - TP53 0 genome.wustl.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 17 7578265 7578265 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.584 p.I195T 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 190 0 0.00 80 180 69.23 - - - TP53BP1 0 genome.wustl.edu 37 15 43767790 43767790 + Missense_Mutation SNP C C T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 15 43767790 43767790 C T SNP TP53BP1 ENST00000382044 human ensembl 69_37n -1 known missense c.1058 p.R353K 0.903 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 88 0 0.00 23 83 78.30 - - - UPB1 0 genome.wustl.edu 37 22 24909455 24909455 + Splice_Site SNP T T A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 22 24909455 24909455 T A SNP UPB1 ENST00000326010 human ensembl 69_37n +1 known splice_site c.621+2 e5+2 1.000 - - - no_errors UPB1 HGNC ENSG00000100024 61 0 0.00 32 28 46.67 - - - USP34 0 genome.wustl.edu 37 2 61505421 61505421 + Splice_Site SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 2 61505421 61505421 C A SNP USP34 ENST00000398571 human ensembl 69_37n -1 known splice_site c.5313-1 e41-1 1.000 - - - no_errors USP34 HGNC ENSG00000115464 223 0 0.00 310 326 51.26 - - - UTP20 0 genome.wustl.edu 37 12 101723085 101723085 + Missense_Mutation SNP G G T TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 12 101723085 101723085 G T SNP UTP20 ENST00000261637 human ensembl 69_37n +1 known missense c.3275 p.G1092V 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 145 0 0.00 234 33 12.36 - - - VSX1 0 genome.wustl.edu 37 20 25060118 25060118 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 20 25060118 25060118 G C SNP VSX1 ENST00000376709 human ensembl 69_37n -1 known missense c.457 p.L153V 0.761 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors VSX1 HGNC ENSG00000100987 89 0 0.00 160 33 17.10 - - - VWA3A 0 genome.wustl.edu 37 16 22161158 22161158 + Missense_Mutation SNP T T G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 16 22161158 22161158 T G SNP VWA3A ENST00000389398 human ensembl 69_37n +1 known missense c.3035 p.L1012R 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 43 0 0.00 49 33 39.29 - - - ZNF642 0 genome.wustl.edu 37 1 40945155 40945155 + Missense_Mutation SNP G G C TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 1 40945155 40945155 G C SNP ZNF642 ENST00000372705 human ensembl 69_37n +1 known missense c.122 p.G41A 1.000 superfamily_Retrov_capsid_C pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF642 HGNC ENSG00000187815 137 0 0.00 223 42 15.79 - - - ZNF665 0 genome.wustl.edu 37 19 53668116 53668116 + Missense_Mutation SNP T T G TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7212115-1007-40cf-b9b5-7b25e2f5f2a4 7b38de28-3b9d-4a67-bf94-5fd17317d1a9 19 53668116 53668116 T G SNP ZNF665 ENST00000396424 human ensembl 69_37n -1 known missense c.1627 p.K543Q 0.000 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 ZNF665 HGNC ENSG00000197497 217 2 0.91 298 91 23.33 - - -