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 ADAMTSL1 0 genome.wustl.edu 37 9 18906856 18906856 + Frame_Shift_Del DEL T T - TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 9 18906856 18906856 T - DEL ADAMTSL1 ENST00000380545 human ensembl 69_37n +1 putative frame_shift_del c.1231 p.W411fs 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors ADAMTSL1 HGNC ENSG00000178031 43 0 0.00 74 29 25.89 - - - ADRA1A 0 genome.wustl.edu 37 8 26627933 26627933 + Silent SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 8 26627933 26627933 G A SNP ADRA1A ENST00000380586 human ensembl 69_37n -1 known silent c.1134 p.P378 0.111 prints_Adrene_rcpt_A1Cs pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1Cs,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 109 0 0.00 134 36 21.18 - - - AGXT 0 genome.wustl.edu 37 2 241808313 241808313 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 2 241808313 241808313 C G SNP AGXT ENST00000307503 human ensembl 69_37n +1 known missense c.31 p.P11A 0.659 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT HGNC ENSG00000172482 32 0 0.00 21 13 38.24 - - - APBA2 0 genome.wustl.edu 37 15 29346952 29346952 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 15 29346952 29346952 G C SNP APBA2 ENST00000558259 human ensembl 69_37n +1 known missense c.865 p.E289Q 0.991 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 12 0 0.00 13 8 38.10 - - - APC 0 genome.wustl.edu 37 5 112179630 112179630 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 5 112179630 112179630 G C SNP APC ENST00000257430 human ensembl 69_37n +1 known missense c.8339 p.R2780T 1.000 pfam_EB1-bd pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 74 0 0.00 91 14 13.21 - - - APPBP2 0 genome.wustl.edu 37 17 58531762 58531762 + Silent SNP T T C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 17 58531762 58531762 T C SNP APPBP2 ENST00000083182 human ensembl 69_37n -1 known silent c.1239 p.S413 0.988 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors APPBP2 HGNC ENSG00000062725 243 0 0.00 94 109 53.43 - - - ARFGEF1 0 genome.wustl.edu 37 8 68138335 68138335 + Missense_Mutation SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 8 68138335 68138335 C T SNP ARFGEF1 ENST00000262215 human ensembl 69_37n -1 known missense c.4000 p.A1334T 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 103 0 0.00 141 63 30.73 - - - ARHGAP28 0 genome.wustl.edu 37 18 6868167 6868167 + Missense_Mutation SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 18 6868167 6868167 C A SNP ARHGAP28 ENST00000400091 human ensembl 69_37n +1 known missense c.745 p.P249T 0.994 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 262 0 0.00 514 138 21.10 - - - ATG14 0 genome.wustl.edu 37 14 55852815 55852815 + Splice_Site SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 14 55852815 55852815 C G SNP ATG14 ENST00000247178 human ensembl 69_37n -1 known splice_site c.410-1 e5-1 1.000 - - - no_errors ATG14 HGNC ENSG00000126775 124 1 0.79 40 35 46.67 - - - ATG4D 0 genome.wustl.edu 37 19 10662976 10662976 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 19 10662976 10662976 G C SNP ATG4D ENST00000309469 human ensembl 69_37n +1 known missense c.1218 p.E406D 0.999 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4D HGNC ENSG00000130734 35 0 0.00 119 28 19.05 - - - ATP2B3 0 genome.wustl.edu 37 X 152827699 152827699 + Missense_Mutation SNP A A T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b X 152827699 152827699 A T SNP ATP2B3 ENST00000263519 human ensembl 69_37n +1 known missense c.3158 p.Q1053L 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 84 0 0.00 177 68 27.64 - - - ATXN2L 0 genome.wustl.edu 37 16 28842316 28842316 + Missense_Mutation SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 16 28842316 28842316 C T SNP ATXN2L ENST00000395547 human ensembl 69_37n +1 known missense c.1244 p.P415L 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 98 0 0.00 76 29 27.62 - - - ATXN3L 0 genome.wustl.edu 37 X 13337695 13337695 + Missense_Mutation SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b X 13337695 13337695 C A SNP ATXN3L ENST00000380622 human ensembl 69_37n -1 known missense c.359 p.W120L 1.000 pfam_Josephin,pfscan_Josephin,prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC ENSG00000123594 95 0 0.00 37 18 32.73 - - - BCORL1 0 genome.wustl.edu 37 X 129148107 129148107 + Silent SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b X 129148107 129148107 G A SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known silent c.1359 p.P453 0.001 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 30 0 0.00 39 9 18.37 - - - CACNA2D4 0 genome.wustl.edu 37 12 1920881 1920881 + Missense_Mutation SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 12 1920881 1920881 C A SNP CACNA2D4 ENST00000382722 human ensembl 69_37n -1 known missense c.2560 p.V854F 0.990 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 37 0 0.00 101 21 17.07 - - - CKAP2L 0 genome.wustl.edu 37 2 113518307 113518307 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 2 113518307 113518307 G C SNP CKAP2L ENST00000302450 human ensembl 69_37n -1 known missense c.139 p.Q47E 0.946 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 171 0 0.00 74 14 15.91 - - - COL22A1 0 genome.wustl.edu 37 8 139767455 139767455 + Splice_Site SNP T T A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 8 139767455 139767455 T A SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known splice_site c.1978-2 e20-2 0.983 - - - no_errors COL22A1 HGNC ENSG00000169436 44 0 0.00 89 26 22.61 - - - CPS1 0 genome.wustl.edu 37 2 211512678 211512678 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 2 211512678 211512678 C G SNP CPS1 ENST00000430249 human ensembl 69_37n +1 known missense c.3251 p.T1084R 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 67 0 0.00 110 38 25.68 - - - CSPP1 0 genome.wustl.edu 37 8 68087581 68087581 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 8 68087581 68087581 G C SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known missense c.3004 p.D1002H 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 113 0 0.00 131 23 14.94 - - - CSTF3 0 genome.wustl.edu 37 11 33108591 33108591 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 11 33108591 33108591 C G SNP CSTF3 ENST00000323959 human ensembl 69_37n -1 known missense c.1738 p.E580Q 1.000 pfam_Suf pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 315 0 0.00 309 98 23.96 - - - DAAM2 0 genome.wustl.edu 37 6 39824117 39824117 + Missense_Mutation SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 6 39824117 39824117 C A SNP DAAM2 ENST00000274867 human ensembl 69_37n +1 known missense c.39 p.F13L 1.000 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 65 0 0.00 59 47 43.93 - - - DCAF12L1 0 genome.wustl.edu 37 X 125686220 125686220 + Silent SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b X 125686220 125686220 G A SNP DCAF12L1 ENST00000371126 human ensembl 69_37n -1 known silent c.372 p.D124 0.996 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 49 0 0.00 184 43 18.94 - - - DDB1 0 genome.wustl.edu 37 11 61068381 61068382 + Frame_Shift_Del DEL CG CG - TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 CG CG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 11 61068381 61068382 CG - DEL DDB1 ENST00000301764 human ensembl 69_37n -1 known frame_shift_del c.3239_3238 p.R1080fs 1.000:1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 252 0 0.00 278 89 23.92 - - - DDX21 0 genome.wustl.edu 37 10 70737415 70737415 + Missense_Mutation SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 10 70737415 70737415 G A SNP DDX21 ENST00000354185 human ensembl 69_37n +1 known missense c.1873 p.D625N 0.972 pfam_GUCT pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 63 0 0.00 83 30 26.55 - - - DHX9 0 genome.wustl.edu 37 1 182853847 182853847 + Silent SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 1 182853847 182853847 C T SNP DHX9 ENST00000367549 human ensembl 69_37n +1 known silent c.3360 p.I1120 0.997 NULL pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC ENSG00000135829 135 0 0.00 201 58 22.39 - - - DISP2 0 genome.wustl.edu 37 15 40661944 40661944 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 15 40661944 40661944 C G SNP DISP2 ENST00000267889 human ensembl 69_37n +1 known missense c.3631 p.P1211A 0.082 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 16 0 0.00 29 8 21.62 - - - ECE2 0 genome.wustl.edu 37 3 184003269 184003269 + Silent SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 3 184003269 184003269 C A SNP ECE2 ENST00000402825 human ensembl 69_37n +1 known silent c.1506 p.I502 0.204 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 100 0 0.00 154 40 20.62 - - - EIF1AD 0 genome.wustl.edu 37 11 65767848 65767848 + Missense_Mutation SNP T T C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 11 65767848 65767848 T C SNP EIF1AD ENST00000312234 human ensembl 69_37n -1 known missense c.13 p.T5A 1.000 superfamily_NA-bd_OB-fold-like,pfscan_RNA-binding_domain_S1_IF1 pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold-like,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1 - no_errors EIF1AD HGNC ENSG00000175376 112 0 0.00 261 82 23.91 - - - ELMO2 0 genome.wustl.edu 37 20 45021783 45021783 + Splice_Site SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 20 45021783 45021783 C A SNP ELMO2 ENST00000439931 human ensembl 69_37n -1 known splice_site c.193-1 e4-1 1.000 - - - no_errors ELMO2 HGNC ENSG00000062598 193 0 0.00 93 26 21.85 - - - EMR2 0 genome.wustl.edu 37 19 14884859 14884859 + Silent SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 19 14884859 14884859 G A SNP EMR2 ENST00000315576 human ensembl 69_37n -1 known silent c.90 p.A30 0.000 smart_EGF-like,prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors EMR2 HGNC ENSG00000127507 106 0 0.00 318 95 22.89 - - - FAM108C1 0 genome.wustl.edu 37 15 81046555 81046555 + Silent SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 15 81046555 81046555 C A SNP FAM108C1 ENST00000258884 human ensembl 69_37n +1 known silent c.834 p.V278 1.000 pfam_Peptidase_S9,pfam_Dienelactn_hydro pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors FAM108C1 HGNC ENSG00000136379 92 0 0.00 140 47 25.13 - - - FAM13B 0 genome.wustl.edu 37 5 137284667 137284667 + Missense_Mutation SNP T T C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 5 137284667 137284667 T C SNP FAM13B ENST00000033079 human ensembl 69_37n -1 known missense c.2071 p.R691G 0.997 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 205 0 0.00 103 48 31.79 - - - FAM183B 0 genome.wustl.edu 37 7 38725521 38725521 + Nonsense_Mutation SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 7 38725521 38725521 G A SNP FAM183B ENST00000409072 human ensembl 69_37n -1 novel nonsense c.85 p.R29* 0.505 NULL NULL - no_errors FAM183B HGNC ENSG00000164556 114 0 0.00 112 47 29.38 - - - FAM18B2 0 genome.wustl.edu 37 17 15450400 15450400 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 17 15450400 15450400 C G SNP FAM18B2 ENST00000225576 human ensembl 69_37n -1 known missense c.303 p.K101N 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors FAM18B2 HGNC ENSG00000175106 260 0 0.00 94 63 40.13 - - - FAM65B 0 genome.wustl.edu 37 6 24850064 24850064 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 6 24850064 24850064 C G SNP FAM65B ENST00000259698 human ensembl 69_37n -1 known missense c.913 p.G305R 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 85 0 0.00 160 67 29.52 - - - FAM71A 0 genome.wustl.edu 37 1 212798330 212798330 + Silent SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 1 212798330 212798330 C T SNP FAM71A ENST00000294829 human ensembl 69_37n +1 known silent c.111 p.Y37 0.030 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 72 0 0.00 241 52 17.75 - - - FAM96A 0 genome.wustl.edu 37 15 64367694 64367694 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 15 64367694 64367694 C G SNP FAM96A ENST00000300030 human ensembl 69_37n -1 known missense c.382 p.D128H 1.000 NULL pfam_DUF59 - no_errors FAM96A HGNC ENSG00000166797 471 0 0.00 184 93 33.57 - - - FBN2 0 genome.wustl.edu 37 5 127686601 127686601 + Missense_Mutation SNP A A T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 5 127686601 127686601 A T SNP FBN2 ENST00000262464 human ensembl 69_37n -1 known missense c.2771 p.L924H 0.877 pirsf_Fibrillin,pfam_TB_dom,superfamily_TB_dom pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 102 0 0.00 53 27 33.33 - - - FGD6 0 genome.wustl.edu 37 12 95603690 95603690 + Missense_Mutation SNP T T A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 12 95603690 95603690 T A SNP FGD6 ENST00000343958 human ensembl 69_37n -1 known missense c.1370 p.K457M 0.998 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 109 0 0.00 59 33 35.87 - - - FHOD3 0 genome.wustl.edu 37 18 34298590 34298590 + Missense_Mutation SNP T T G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 18 34298590 34298590 T G SNP FHOD3 ENST00000257209 human ensembl 69_37n +1 known missense c.2804 p.L935R 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC ENSG00000134775 110 0 0.00 114 68 37.36 - - - FMR1 0 genome.wustl.edu 37 X 147014261 147014261 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b X 147014261 147014261 C G SNP FMR1 ENST00000370475 human ensembl 69_37n +1 known missense c.859 p.Q287E 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 150 0 0.00 107 32 23.02 - - - FOXO4 0 genome.wustl.edu 37 X 70316804 70316804 + Silent SNP T T A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b X 70316804 70316804 T A SNP FOXO4 ENST00000374259 human ensembl 69_37n +1 known silent c.426 p.G142 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 74 0 0.00 96 39 28.06 - - - GALNT13 0 genome.wustl.edu 37 2 155265555 155265555 + Missense_Mutation SNP A A T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 2 155265555 155265555 A T SNP GALNT13 ENST00000409237 human ensembl 69_37n +1 known missense c.1356 p.K452N 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 274 0 0.00 201 70 25.74 - - - GPRIN2 0 genome.wustl.edu 37 10 46999151 46999151 + Missense_Mutation SNP T T C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 10 46999151 46999151 T C SNP GPRIN2 ENST00000374314 human ensembl 69_37n +1 known missense c.271 p.W91R 0.588 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 9 0 0.00 20 12 37.50 - - - ICA1L 0 genome.wustl.edu 37 2 203661619 203661619 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 2 203661619 203661619 C G SNP ICA1L ENST00000358299 human ensembl 69_37n -1 known missense c.979 p.E327Q 1.000 pfam_Islet_autoAg_Ica1_C pfam_Islet_autoAg_Ica1_C,pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ICA1L HGNC ENSG00000163596 137 0 0.00 78 25 24.27 - - - IFNA2 0 genome.wustl.edu 37 9 21384882 21384882 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 9 21384882 21384882 G C SNP IFNA2 ENST00000380206 human ensembl 69_37n -1 known missense c.447 p.I149M 0.007 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA2 HGNC ENSG00000188379 324 0 0.00 360 46 11.30 - - - IGSF3 0 genome.wustl.edu 37 1 117122205 117122205 + Missense_Mutation SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 1 117122205 117122205 G A SNP IGSF3 ENST00000318837 human ensembl 69_37n -1 known missense c.3203 p.P1068L 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF3 HGNC ENSG00000143061 38 0 0.00 70 28 28.00 - - - IKZF1 0 genome.wustl.edu 37 7 50450348 50450348 + Missense_Mutation SNP T T A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 7 50450348 50450348 T A SNP IKZF1 ENST00000331340 human ensembl 69_37n +1 known missense c.532 p.C178S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 38 0 0.00 55 21 27.63 - - - IRS1 0 genome.wustl.edu 37 2 227662969 227662969 + Silent SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 2 227662969 227662969 C T SNP IRS1 ENST00000305123 human ensembl 69_37n -1 known silent c.486 p.E162 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 11 0 0.00 29 7 19.44 - - - ITIH4 0 genome.wustl.edu 37 3 52850986 52850986 + Missense_Mutation SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 3 52850986 52850986 G A SNP ITIH4 ENST00000441637 human ensembl 69_37n -1 novel missense c.1750 p.R584C 0.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ITIH4 HGNC ENSG00000055955 87 0 0.00 84 51 37.50 - - - KCNN2 0 genome.wustl.edu 37 5 113740461 113740461 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 5 113740461 113740461 G C SNP KCNN2 ENST00000264773 human ensembl 69_37n +1 known missense c.909 p.K303N 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 141 0 0.00 124 16 11.43 - - - KIAA0232 0 genome.wustl.edu 37 4 6865611 6865611 + Missense_Mutation SNP T T G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 4 6865611 6865611 T G SNP KIAA0232 ENST00000307659 human ensembl 69_37n +1 known missense c.3502 p.S1168A 0.961 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 74 0 0.00 42 5 10.20 - - - LEPREL1 0 genome.wustl.edu 37 3 189704666 189704666 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 3 189704666 189704666 C G SNP LEPREL1 ENST00000319332 human ensembl 69_37n -1 known missense c.1099 p.D367H 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 85 0 0.00 78 9 10.34 - - - LHX4 0 genome.wustl.edu 37 1 180241004 180241004 + Missense_Mutation SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 1 180241004 180241004 G A SNP LHX4 ENST00000263726 human ensembl 69_37n +1 known missense c.641 p.R214H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX4 HGNC ENSG00000121454 107 0 0.00 91 16 14.95 - - - LRFN1 0 genome.wustl.edu 37 19 39805332 39805333 + Frame_Shift_Del DEL CA CA - TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 19 39805332 39805333 CA - DEL LRFN1 ENST00000248668 human ensembl 69_37n -1 known frame_shift_del c.645_644 p.L215fs 1.000:1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC ENSG00000128011 23 0 0.00 77 24 22.64 - - - LRRC41 0 genome.wustl.edu 37 1 46752022 46752022 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 1 46752022 46752022 G C SNP LRRC41 ENST00000343304 human ensembl 69_37n -1 known missense c.507 p.I169M 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 39 0 0.00 65 15 18.75 - - - MAPK13 0 genome.wustl.edu 37 6 36103593 36103593 + Silent SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 6 36103593 36103593 G A SNP MAPK13 ENST00000211287 human ensembl 69_37n +1 known silent c.372 p.E124 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,prints_MAPK_JNK 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,prints_MAPK_p38,prints_MAPK_JNK - no_errors MAPK13 HGNC ENSG00000156711 204 0 0.00 500 126 20.03 - - - MBD3L1 0 genome.wustl.edu 37 19 8953926 8953926 + Missense_Mutation SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 19 8953926 8953926 C T SNP MBD3L1 ENST00000305625 human ensembl 69_37n +1 known missense c.572 p.P191L 0.000 NULL NULL - no_errors MBD3L1 HGNC ENSG00000170948 23 0 0.00 25 18 40.91 - - - MCM10 0 genome.wustl.edu 37 10 13237166 13237166 + Missense_Mutation SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 10 13237166 13237166 C T SNP MCM10 ENST00000361282 human ensembl 69_37n +1 known missense c.1874 p.T625M 0.000 pfam_Rep_factor_Mcm10 pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 72 0 0.00 143 45 23.94 - - - MEAF6 0 genome.wustl.edu 37 1 37979110 37979110 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 1 37979110 37979110 G C SNP MEAF6 ENST00000373075 human ensembl 69_37n -1 known missense c.120 p.I40M 1.000 pfam_Hist_AcTrfase_NuA4_cplx pfam_Hist_AcTrfase_NuA4_cplx - no_errors MEAF6 HGNC ENSG00000163875 164 0 0.00 246 63 20.32 - - - MED12 0 genome.wustl.edu 37 X 70352290 70352290 + Silent SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b X 70352290 70352290 C G SNP MED12 ENST00000333646 human ensembl 69_37n +1 known silent c.4317 p.V1439 0.995 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 163 0 0.00 226 45 16.61 - - - MEFV 0 genome.wustl.edu 37 16 3297157 3297157 + Frame_Shift_Del DEL G G - TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 16 3297157 3297157 G - DEL MEFV ENST00000219596 human ensembl 69_37n -1 known frame_shift_del c.1446 p.S483fs 1.000 NULL 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 69 0 0.00 161 58 25.55 - - - MOK 0 genome.wustl.edu 37 14 102698065 102698065 + Missense_Mutation SNP A A G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 14 102698065 102698065 A G SNP MOK ENST00000521937 human ensembl 69_37n -1 putative missense c.94 p.F32L 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MOK HGNC ENSG00000080823 103 0 0.00 93 64 40.51 - - - MSLN 0 genome.wustl.edu 37 16 816661 816661 + Silent SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 16 816661 816661 C T SNP MSLN ENST00000382862 human ensembl 69_37n +1 known silent c.1248 p.L416 0.003 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 29 0 0.00 46 7 13.21 - - - MYO18A 0 genome.wustl.edu 37 17 27424325 27424325 + Silent SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 17 27424325 27424325 C T SNP MYO18A ENST00000354329 human ensembl 69_37n -1 known silent c.4146 p.V1382 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 46 0 0.00 171 44 20.37 - - - NCR2 0 genome.wustl.edu 37 6 41309625 41309625 + Missense_Mutation SNP G G T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 6 41309625 41309625 G T SNP NCR2 ENST00000373089 human ensembl 69_37n +1 known missense c.488 p.R163I 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors NCR2 HGNC ENSG00000096264 96 0 0.00 87 60 40.82 - - - NT5E 0 genome.wustl.edu 37 6 86197087 86197087 + Missense_Mutation SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 6 86197087 86197087 G A SNP NT5E ENST00000416334 human ensembl 69_37n +1 known missense c.278 p.G93E 0.624 NULL pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NT5E HGNC ENSG00000135318 142 0 0.00 85 36 29.75 - - - NUDCD1 0 genome.wustl.edu 37 8 110308645 110308645 + Nonsense_Mutation SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 8 110308645 110308645 C A SNP NUDCD1 ENST00000239690 human ensembl 69_37n -1 known nonsense c.427 p.E143* 1.000 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDCD1 HGNC ENSG00000120526 234 0 0.00 401 82 16.91 - - - NXF5 0 genome.wustl.edu 37 X 101091722 101091722 + Silent SNP A A G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b X 101091722 101091722 A G SNP NXF5 ENST00000263032 human ensembl 69_37n -1 known silent c.1164 p.P388 0.001 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 217 0 0.00 454 133 22.50 - - - OR51B6 0 genome.wustl.edu 37 11 5373049 5373049 + Silent SNP T T A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 11 5373049 5373049 T A SNP OR51B6 ENST00000380219 human ensembl 69_37n +1 known silent c.312 p.T104 0.237 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 124 0 0.00 172 42 19.63 - - - PIK3C2A 0 genome.wustl.edu 37 11 17121503 17121503 + Missense_Mutation SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 11 17121503 17121503 C T SNP PIK3C2A ENST00000265970 human ensembl 69_37n -1 known missense c.4022 p.G1341E 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 102 0 0.00 85 56 39.72 - - - PKIB 0 genome.wustl.edu 37 6 123038978 123038978 + Silent SNP T T C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 6 123038978 123038978 T C SNP PKIB ENST00000368446 human ensembl 69_37n +1 known silent c.66 p.S22 0.271 pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIB HGNC ENSG00000135549 53 0 0.00 49 25 33.33 - - - PLXNA4 0 genome.wustl.edu 37 7 131887475 131887475 + Missense_Mutation SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 7 131887475 131887475 G A SNP PLXNA4 ENST00000321063 human ensembl 69_37n -1 known missense c.2516 p.P839L 0.992 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 25 0 0.00 60 16 21.05 - - - PNPO 0 genome.wustl.edu 37 17 46023746 46023746 + Nonsense_Mutation SNP A A T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 17 46023746 46023746 A T SNP PNPO ENST00000225573 human ensembl 69_37n +1 known nonsense c.604 p.K202* 0.998 superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase - no_errors PNPO HGNC ENSG00000108439 84 0 0.00 68 64 48.48 - - - POLA1 0 genome.wustl.edu 37 X 24760174 24760174 + Missense_Mutation SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b X 24760174 24760174 C T SNP POLA1 ENST00000379068 human ensembl 69_37n +1 known missense c.2402 p.A801V 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 106 0 0.00 118 43 26.71 - - - PRUNE2 0 genome.wustl.edu 37 9 79324986 79324986 + Missense_Mutation SNP T T A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 9 79324986 79324986 T A SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.1127 p.E376V 0.274 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 102 0 0.00 152 40 20.83 - - - PSKH1 0 genome.wustl.edu 37 16 67942876 67942876 + Nonsense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 16 67942876 67942876 C G SNP PSKH1 ENST00000291041 human ensembl 69_37n +1 known nonsense c.224 p.S75* 0.892 NULL 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 PSKH1 HGNC ENSG00000159792 63 0 0.00 172 54 23.89 - - - PXDNL 0 genome.wustl.edu 37 8 52336142 52336142 + Silent SNP T T G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 8 52336142 52336142 T G SNP PXDNL ENST00000356297 human ensembl 69_37n -1 known silent c.1788 p.T596 0.012 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDNL HGNC ENSG00000147485 111 0 0.00 217 61 21.94 - - - QSER1 0 genome.wustl.edu 37 11 32956801 32956801 + Missense_Mutation SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 11 32956801 32956801 G A SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known missense c.3610 p.V1204M 0.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 119 0 0.00 129 32 19.88 - - - RNF213 0 genome.wustl.edu 37 17 78306165 78306165 + Silent SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 17 78306165 78306165 C T SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known silent c.3877 p.L1293 0.949 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 47 0 0.00 64 13 16.88 - - - SCIN 0 genome.wustl.edu 37 7 12620847 12620847 + Splice_Site SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 7 12620847 12620847 G A SNP SCIN ENST00000297029 human ensembl 69_37n +1 known splice_site c.516+1 e3+1 1.000 - - - no_errors SCIN HGNC ENSG00000006747 91 0 0.00 145 52 26.26 - - - SEC14L5 0 genome.wustl.edu 37 16 5038149 5038149 + Splice_Site SNP G G T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 16 5038149 5038149 G T SNP SEC14L5 ENST00000251170 human ensembl 69_37n +1 known splice_site c.214-1 e3-1 1.000 - - - no_errors SEC14L5 HGNC ENSG00000103184 15 0 0.00 79 25 24.04 - - - SELT 0 genome.wustl.edu 37 3 150321284 150321284 + Silent SNP T T A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 3 150321284 150321284 T A SNP SELT ENST00000492132 human ensembl 69_37n +1 known silent c.135 p.I45 1.000 NULL NULL - no_errors RP11-392O18.1 Clone_based_vega_gene ENSG00000198843 21 0 0.00 24 13 35.14 - - - SMARCC2 0 genome.wustl.edu 37 12 56567506 56567506 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 12 56567506 56567506 C G SNP SMARCC2 ENST00000267064 human ensembl 69_37n -1 known missense c.1624 p.V542L 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 74 0 0.00 107 59 35.54 - - - SMTN 0 genome.wustl.edu 37 22 31486977 31486977 + Nonsense_Mutation SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 22 31486977 31486977 C A SNP SMTN ENST00000347557 human ensembl 69_37n +1 known nonsense c.968 p.S323* 0.124 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 124 0 0.00 292 117 28.61 - - - SMYD1 0 genome.wustl.edu 37 2 88409999 88409999 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 2 88409999 88409999 C G SNP SMYD1 ENST00000419482 human ensembl 69_37n +1 known missense c.1441 p.P481A 0.978 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 52 0 0.00 140 59 29.50 - - - SPTLC1 0 genome.wustl.edu 37 9 94821572 94821572 + Silent SNP A A G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 9 94821572 94821572 A G SNP SPTLC1 ENST00000262554 human ensembl 69_37n -1 known silent c.579 p.F193 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC ENSG00000090054 166 0 0.00 99 123 55.41 - - - SRGAP2 0 genome.wustl.edu 37 1 206634438 206634438 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 1 206634438 206634438 G C SNP SRGAP2 ENST00000295713 human ensembl 69_37n +1 known missense c.2629 p.E877Q 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SRGAP2 HGNC ENSG00000163486 64 0 0.00 125 17 11.97 - - - STRA6 0 genome.wustl.edu 37 15 74472480 74472480 + Missense_Mutation SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 15 74472480 74472480 G A SNP STRA6 ENST00000563965 human ensembl 69_37n -1 known missense c.2062 p.P688S 1.000 NULL NULL - no_errors STRA6 HGNC ENSG00000137868 24 0 0.00 57 22 27.50 - - - STRA6 0 genome.wustl.edu 37 15 74472481 74472481 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 15 74472481 74472481 G C SNP STRA6 ENST00000563965 human ensembl 69_37n -1 known missense c.2061 p.N687K 1.000 NULL NULL - no_errors STRA6 HGNC ENSG00000137868 23 0 0.00 56 22 28.21 - - - STX5 0 genome.wustl.edu 37 11 62598707 62598707 + Silent SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 11 62598707 62598707 C G SNP STX5 ENST00000294179 human ensembl 69_37n -1 known silent c.9 p.P3 1.000 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX5 HGNC ENSG00000162236 15 0 0.00 38 13 25.49 - - - TAS2R14 0 genome.wustl.edu 37 12 11091327 11091327 + Missense_Mutation SNP T T G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 12 11091327 11091327 T G SNP TAS2R14 ENST00000537503 human ensembl 69_37n -1 known missense c.480 p.R160S 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R14 HGNC ENSG00000212127 135 1 0.74 88 34 27.87 - - - TCF4 0 genome.wustl.edu 37 18 52901809 52901809 + Missense_Mutation SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 18 52901809 52901809 C A SNP TCF4 ENST00000398339 human ensembl 69_37n -1 known missense c.1762 p.D588Y 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF4 HGNC ENSG00000196628 104 0 0.00 233 43 15.52 - - - TOR3A 0 genome.wustl.edu 37 1 179054768 179054768 + Missense_Mutation SNP G G A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 1 179054768 179054768 G A SNP TOR3A ENST00000367627 human ensembl 69_37n +1 known missense c.379 p.E127K 0.001 pfam_Torsin pfam_Torsin - no_errors TOR3A HGNC ENSG00000186283 58 0 0.00 97 31 24.22 - - - TP53 0 genome.wustl.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 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 195 0 0.00 120 74 38.14 - - - TRIM34 0 genome.wustl.edu 37 11 5624607 5624607 + Missense_Mutation SNP T T A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 11 5624607 5624607 T A SNP TRIM34 ENST00000337072 human ensembl 69_37n +1 known missense c.149 p.L50Q 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM34 HGNC ENSG00000258659 126 0 0.00 160 47 22.60 - - - TUBB8 0 genome.wustl.edu 37 10 93603 93603 + Silent SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 10 93603 93603 C T SNP TUBB8 ENST00000328974 human ensembl 69_37n -1 known silent c.729 p.P243 0.987 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 8 0 0.00 9 7 43.75 - - - TUT1 0 genome.wustl.edu 37 11 62348589 62348589 + Nonsense_Mutation SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 11 62348589 62348589 C A SNP TUT1 ENST00000308436 human ensembl 69_37n -1 known nonsense c.793 p.E265* 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 55 0 0.00 125 46 26.90 - - - USH2A 0 genome.wustl.edu 37 1 216138777 216138777 + Missense_Mutation SNP A A C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 1 216138777 216138777 A C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.7002 p.N2334K 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 190 0 0.00 209 48 18.68 - - - USP15 0 genome.wustl.edu 37 12 62775318 62775318 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 12 62775318 62775318 G C SNP USP15 ENST00000280377 human ensembl 69_37n +1 known missense c.963 p.K321N 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC ENSG00000135655 235 0 0.00 235 82 25.87 - - - USP48 0 genome.wustl.edu 37 1 22084186 22084186 + Silent SNP G G T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 1 22084186 22084186 G T SNP USP48 ENST00000308271 human ensembl 69_37n -1 known silent c.225 p.I75 0.729 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 254 0 0.00 238 52 17.93 - - - XDH 0 genome.wustl.edu 37 2 31621458 31621458 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 2 31621458 31621458 C G SNP XDH ENST00000379416 human ensembl 69_37n -1 known missense c.414 p.E138D 0.998 pfam_2Fe-2S-bd,superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 89 0 0.00 116 31 21.09 - - - ZFAT 0 genome.wustl.edu 37 8 135669982 135669982 + Splice_Site SNP T T C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 8 135669982 135669982 T C SNP ZFAT ENST00000377838 human ensembl 69_37n -1 known splice_site c.20-2 e2-2 1.000 - - - no_errors ZFAT HGNC ENSG00000066827 139 0 0.00 254 35 12.07 - - - ZFR2 0 genome.wustl.edu 37 19 3852528 3852528 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 19 3852528 3852528 G C SNP ZFR2 ENST00000439086 human ensembl 69_37n -1 known missense c.138 p.D46E 0.009 NULL NULL - no_errors ZFR2 HGNC ENSG00000105278 86 0 0.00 123 64 34.04 - - - ZIK1 0 genome.wustl.edu 37 19 58102405 58102405 + Missense_Mutation SNP G G T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 19 58102405 58102405 G T SNP ZIK1 ENST00000307468 human ensembl 69_37n +1 known missense c.1226 p.C409F 0.970 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 ZIK1 HGNC ENSG00000171649 149 0 0.00 115 29 20.14 - - - ZNF449 0 genome.wustl.edu 37 X 134493837 134493837 + Missense_Mutation SNP G G T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b X 134493837 134493837 G T SNP ZNF449 ENST00000339249 human ensembl 69_37n +1 known missense c.580 p.D194Y 0.804 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ENSG00000173275 225 0 0.00 206 54 20.77 - - - ZNF74 0 genome.wustl.edu 37 22 20760374 20760374 + Missense_Mutation SNP C C G TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 22 20760374 20760374 C G SNP ZNF74 ENST00000356671 human ensembl 69_37n +1 known missense c.1051 p.L351V 0.088 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 ZNF74 HGNC ENSG00000185252 21 0 0.00 113 52 31.52 - - - ZNF862 0 genome.wustl.edu 37 7 149557807 149557807 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bcf92c27-3aa7-4449-9c7a-fc715789788f 5516f85d-911f-451a-b9b2-3bf9b4e5d74b 7 149557807 149557807 G C SNP ZNF862 ENST00000223210 human ensembl 69_37n +1 known missense c.1558 p.E520Q 1.000 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 54 0 0.00 44 22 33.33 - - -