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 ABCA3 0 genome.wustl.edu 37 16 2336827 2336827 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 2336827 2336827 G A SNP ABCA3 ENST00000301732 human ensembl 69_37n -1 known missense c.3146 p.S1049F 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 9 0 0.00 83 44 34.65 - - - ABCD1 0 genome.wustl.edu 37 X 153001904 153001904 + Nonsense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 153001904 153001904 C T SNP ABCD1 ENST00000218104 human ensembl 69_37n +1 known nonsense c.1330 p.Q444* 0.010 tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 33 0 0.00 77 27 25.96 - - - ABHD4 0 genome.wustl.edu 37 14 23072319 23072319 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 23072319 23072319 G A SNP ABHD4 ENST00000428304 human ensembl 69_37n +1 known missense c.137 p.R46K 0.954 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors ABHD4 HGNC ENSG00000100439 34 0 0.00 59 11 15.71 - - - ABI3 0 genome.wustl.edu 37 17 47299506 47299506 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 47299506 47299506 G C SNP ABI3 ENST00000225941 human ensembl 69_37n +1 known missense c.856 p.D286H 0.776 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors ABI3 HGNC ENSG00000108798 26 0 0.00 61 20 24.69 - - - ACBD5 0 genome.wustl.edu 37 10 27486360 27486360 + Nonstop_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 27486360 27486360 C G SNP ACBD5 ENST00000375888 human ensembl 69_37n -1 known nonstop c.1604 p.*535S 1.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 158 0 0.00 144 28 16.18 - - - ACTG2 0 genome.wustl.edu 37 2 74141897 74141897 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 74141897 74141897 C T SNP ACTG2 ENST00000345517 human ensembl 69_37n +1 known missense c.704 p.S235F 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG2 HGNC ENSG00000163017 38 0 0.00 69 17 19.77 - - - ADAM33 0 genome.wustl.edu 37 20 3655266 3655266 + Nonsense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 3655266 3655266 G C SNP ADAM33 ENST00000356518 human ensembl 69_37n -1 known nonsense c.485 p.S162* 0.006 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 22 0 0.00 39 14 26.42 - - - AGAP3 0 genome.wustl.edu 37 7 150813883 150813883 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 150813883 150813883 C T SNP AGAP3 ENST00000397238 human ensembl 69_37n +1 known missense c.335 p.S112L 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 9 0 0.00 31 12 27.91 - - - AHNAK2 0 genome.wustl.edu 37 14 105410836 105410836 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 105410836 105410836 G A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.10952 p.S3651L 0.099 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 127 0 0.00 156 32 17.02 - - - AHNAK2 0 genome.wustl.edu 37 14 105418953 105418953 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 105418953 105418953 C G SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.2835 p.L945 0.010 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 119 0 0.00 157 43 21.50 - - - AKR1B15 0 genome.wustl.edu 37 7 134260625 134260625 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 134260625 134260625 C T SNP AKR1B15 ENST00000423958 human ensembl 69_37n +1 known missense c.605 p.S202F 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B15 HGNC ENSG00000227471 82 0 0.00 140 29 17.16 - - - ANXA3 0 genome.wustl.edu 37 4 79522719 79522719 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 4 79522719 79522719 G C SNP ANXA3 ENST00000264908 human ensembl 69_37n +1 known missense c.786 p.L262F 1.000 pfam_Annexin_repeat,superfamily_Annexin,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII - no_errors ANXA3 HGNC ENSG00000138772 211 0 0.00 164 51 23.72 - - - APOBR 0 genome.wustl.edu 37 16 28508304 28508304 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 28508304 28508304 G A SNP APOBR ENST00000564831 human ensembl 69_37n +1 known missense c.1942 p.E648K 0.006 NULL NULL - no_errors APOBR HGNC ENSG00000184730 27 0 0.00 71 10 12.35 - - - APOBR 0 genome.wustl.edu 37 16 28508563 28508563 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 28508563 28508563 G A SNP APOBR ENST00000564831 human ensembl 69_37n +1 known missense c.2201 p.R734K 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 24 0 0.00 61 9 12.86 - - - ARHGAP28 0 genome.wustl.edu 37 18 6876136 6876136 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 18 6876136 6876136 G C SNP ARHGAP28 ENST00000400091 human ensembl 69_37n +1 known missense c.1219 p.E407Q 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 273 0 0.00 160 50 23.81 - - - ARPC1B 0 genome.wustl.edu 37 7 98983370 98983370 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 98983370 98983370 C G SNP ARPC1B ENST00000252725 human ensembl 69_37n +1 known missense c.33 p.I11M 1.000 superfamily_WD40_repeat_dom,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1B HGNC ENSG00000130429 11 0 0.00 51 11 17.74 - - - ATAD5 0 genome.wustl.edu 37 17 29162675 29162675 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 29162675 29162675 G C SNP ATAD5 ENST00000321990 human ensembl 69_37n +1 known missense c.1576 p.E526Q 0.113 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 89 0 0.00 49 13 20.97 - - - ATM 0 genome.wustl.edu 37 11 108170512 108170512 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 108170512 108170512 G A SNP ATM ENST00000278616 human ensembl 69_37n +1 known missense c.5077 p.D1693N 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 232 0 0.00 90 69 43.12 - - - ATP10A 0 genome.wustl.edu 37 15 25924558 25924558 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 25924558 25924558 G A SNP ATP10A ENST00000356865 human ensembl 69_37n -1 known missense c.4430 p.S1477L 0.043 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 24 0 0.00 41 10 19.61 - - - ATP4B 0 genome.wustl.edu 37 13 114303695 114303695 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 13 114303695 114303695 C T SNP ATP4B ENST00000335288 human ensembl 69_37n -1 known silent c.870 p.E290 0.002 tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP4B HGNC ENSG00000186009 72 0 0.00 82 23 21.90 - - - B2M 0 genome.wustl.edu 37 15 45003787 45003787 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 45003787 45003787 C T SNP B2M ENST00000544417 human ensembl 69_37n +1 known missense c.43 p.L15F 0.001 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like - no_errors B2M HGNC ENSG00000166710 21 0 0.00 43 17 28.33 - - - BAI3 0 genome.wustl.edu 37 6 69349121 69349121 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 69349121 69349121 G A SNP BAI3 ENST00000370598 human ensembl 69_37n +1 known missense c.554 p.R185K 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 29 0 0.00 24 8 25.00 - - - BBS2 0 genome.wustl.edu 37 16 56543943 56543943 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 56543943 56543943 G C SNP BBS2 ENST00000245157 human ensembl 69_37n -1 known missense c.538 p.L180V 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 183 0 0.00 107 31 22.46 - - - BLM 0 genome.wustl.edu 37 15 91312739 91312739 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 91312739 91312739 G A SNP BLM ENST00000355112 human ensembl 69_37n +1 known silent c.2478 p.V826 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 51 0 0.00 41 14 25.45 - - - BLM 0 genome.wustl.edu 37 15 91354615 91354615 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 91354615 91354615 C T SNP BLM ENST00000355112 human ensembl 69_37n +1 known missense c.4055 p.S1352F 0.000 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 89 0 0.00 105 30 22.06 - - - BMP2 0 genome.wustl.edu 37 20 6759581 6759581 + Nonsense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 6759581 6759581 C T SNP BMP2 ENST00000378827 human ensembl 69_37n +1 known nonsense c.1036 p.Q346* 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 80 0 0.00 127 36 22.09 - - - BNC1 0 genome.wustl.edu 37 15 83933455 83933455 + Missense_Mutation SNP A A T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 83933455 83933455 A T SNP BNC1 ENST00000345382 human ensembl 69_37n -1 known missense c.548 p.M183K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 90 0 0.00 65 43 39.81 - - - BRWD3 0 genome.wustl.edu 37 X 79932203 79932203 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 79932203 79932203 C T SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known missense c.5314 p.E1772K 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 126 0 0.00 50 24 32.43 - - - C11orf30 0 genome.wustl.edu 37 11 76175093 76175093 + Nonsense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 76175093 76175093 C G SNP C11orf30 ENST00000334736 human ensembl 69_37n +1 known nonsense c.800 p.S267* 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 69 0 0.00 74 27 26.73 - - - C14orf118 0 genome.wustl.edu 37 14 76621084 76621084 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 76621084 76621084 C G SNP C14orf118 ENST00000261530 human ensembl 69_37n +1 known silent c.378 p.L126 0.945 NULL NULL - no_errors C14orf118 HGNC ENSG00000089916 31 0 0.00 64 12 15.58 - - - C16orf58 0 genome.wustl.edu 37 16 31503569 31503569 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 31503569 31503569 C T SNP C16orf58 ENST00000327237 human ensembl 69_37n -1 known missense c.1180 p.D394N 0.749 NULL pfam_DUF647 - no_errors C16orf58 HGNC ENSG00000140688 10 0 0.00 43 11 20.37 - - - C1orf168 0 genome.wustl.edu 37 1 57189333 57189333 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 57189333 57189333 G A SNP C1orf168 ENST00000343433 human ensembl 69_37n -1 known silent c.1902 p.F634 0.999 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 172 0 0.00 42 9 17.65 - - - C20orf72 0 genome.wustl.edu 37 20 17956500 17956500 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 17956500 17956500 G A SNP C20orf72 ENST00000377710 human ensembl 69_37n +1 known missense c.685 p.E229K 0.419 NULL superfamily_Restrct_endonuc-II-like - no_errors C20orf72 HGNC ENSG00000125871 172 0 0.00 153 34 18.18 - - - C5orf42 0 genome.wustl.edu 37 5 37180152 37180152 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 37180152 37180152 C T SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.5704 p.E1902K 0.738 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 156 0 0.00 107 14 11.57 - - - C9orf174 0 genome.wustl.edu 37 9 100070026 100070026 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 9 100070026 100070026 C T SNP C9orf174 ENST00000357054 human ensembl 69_37n +1 known missense c.406 p.R136W 0.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 41 0 0.00 63 25 28.41 - - - CACNA1A 0 genome.wustl.edu 37 19 13414674 13414674 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 13414674 13414674 C T SNP CACNA1A ENST00000360228 human ensembl 69_37n -1 known missense c.2011 p.E671K 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 34 0 0.00 75 20 21.05 - - - CACNA1E 0 genome.wustl.edu 37 1 181727119 181727119 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 181727119 181727119 C G SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.4366 p.L1456V 0.997 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 42 0 0.00 126 29 18.71 - - - CAD 0 genome.wustl.edu 37 2 27460410 27460410 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 27460410 27460410 G A SNP CAD ENST00000458503 human ensembl 69_37n +1 novel missense c.515 p.R172K 1.000 pfam_Amidohydro_1 pfam_Amidohydro_1,pfam_MGS-like_dom,superfamily_MGS-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CAD HGNC ENSG00000084774 9 0 0.00 40 7 14.89 - - - CADPS 0 genome.wustl.edu 37 3 62543150 62543150 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 62543150 62543150 C G SNP CADPS ENST00000383710 human ensembl 69_37n -1 known missense c.1683 p.E561D 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 91 0 0.00 107 33 23.57 - - - CAMSAP2 0 genome.wustl.edu 37 1 200818343 200818343 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 200818343 200818343 G A SNP CAMSAP2 ENST00000236925 human ensembl 69_37n +1 known missense c.2479 p.D827N 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 108 0 0.00 106 17 13.82 - - - CAND2 0 genome.wustl.edu 37 3 12866971 12866971 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 12866971 12866971 G C SNP CAND2 ENST00000456430 human ensembl 69_37n +1 known missense c.3043 p.E1015Q 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 23 0 0.00 48 20 29.41 - - - CAPN13 0 genome.wustl.edu 37 2 30974021 30974021 + Nonsense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 30974021 30974021 G C SNP CAPN13 ENST00000295055 human ensembl 69_37n -1 known nonsense c.1184 p.S395* 0.229 pfam_Calpain_domain_III,superfamily_Calpain_domain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 24 0 0.00 44 17 27.87 - - - CARD11 0 genome.wustl.edu 37 7 2979488 2979488 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 2979488 2979488 C T SNP CARD11 ENST00000396946 human ensembl 69_37n -1 known silent c.759 p.L253 0.593 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 245 0 0.00 290 38 11.52 - - - CBX3 0 genome.wustl.edu 37 7 26251371 26251371 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 26251371 26251371 G A SNP CBX3 ENST00000337620 human ensembl 69_37n +1 known missense c.420 p.M140I 1.000 pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX3 HGNC ENSG00000122565 120 0 0.00 127 26 16.88 - - - CCL13 0 genome.wustl.edu 37 17 32684555 32684555 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 32684555 32684555 G A SNP CCL13 ENST00000577681 human ensembl 69_37n +1 novel missense c.52 p.E18K 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CCL13 HGNC ENSG00000181374 87 0 0.00 61 30 32.97 - - - CDK11B 0 genome.wustl.edu 37 1 1573894 1573894 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 1573894 1573894 C G SNP CDK11B ENST00000407249 human ensembl 69_37n -1 known missense c.1319 p.G440A 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK11B HGNC ENSG00000248333 65 0 0.00 82 22 21.15 - - - CELF2 0 genome.wustl.edu 37 10 11299828 11299828 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 11299828 11299828 G A SNP CELF2 ENST00000450189 human ensembl 69_37n +1 known silent c.531 p.L177 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 71 0 0.00 83 23 21.70 - - - CENPJ 0 genome.wustl.edu 37 13 25480951 25480951 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 13 25480951 25480951 C T SNP CENPJ ENST00000381884 human ensembl 69_37n -1 known missense c.1225 p.D409N 0.984 NULL pfam_Tcp10/CenJ_C - no_errors CENPJ HGNC ENSG00000151849 180 1 0.55 96 47 32.87 - - - CHD5 0 genome.wustl.edu 37 1 6195315 6195315 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 6195315 6195315 G A SNP CHD5 ENST00000262450 human ensembl 69_37n -1 known missense c.2845 p.R949W 0.996 pfam_SNF2_N pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 18 0 0.00 31 11 26.19 - - - CHD6 0 genome.wustl.edu 37 20 40045305 40045305 + Nonsense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 40045305 40045305 G A SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known nonsense c.6409 p.R2137* 0.950 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 17 0 0.00 36 16 30.77 - - - CHKB 0 genome.wustl.edu 37 22 51018232 51018232 + Splice_Site SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 22 51018232 51018232 C T SNP CHKB ENST00000464225 human ensembl 69_37n -1 known splice_site c.NULL NULL 0.987 - - - no_errors CHKB HGNC ENSG00000100288 124 0 0.00 139 36 20.57 - - - CIAO1 0 genome.wustl.edu 37 2 96936858 96936858 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 96936858 96936858 G A SNP CIAO1 ENST00000488633 human ensembl 69_37n +1 known silent c.789 p.L263 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIAO1 HGNC ENSG00000144021 9 0 0.00 22 9 29.03 - - - CIB4 0 genome.wustl.edu 37 2 26805698 26805698 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 26805698 26805698 G A SNP CIB4 ENST00000288861 human ensembl 69_37n -1 known silent c.522 p.F174 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB4 HGNC ENSG00000157884 46 0 0.00 77 23 23.00 - - - CLDN2 0 genome.wustl.edu 37 X 106171608 106171608 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 106171608 106171608 C G SNP CLDN2 ENST00000336803 human ensembl 69_37n +1 known silent c.150 p.L50 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14 - no_errors CLDN2 HGNC ENSG00000165376 34 0 0.00 52 16 23.53 - - - CLDN2 0 genome.wustl.edu 37 X 106171827 106171827 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 106171827 106171827 C G SNP CLDN2 ENST00000336803 human ensembl 69_37n +1 known silent c.369 p.V123 0.939 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14 - no_errors CLDN2 HGNC ENSG00000165376 119 0 0.00 147 45 23.44 - - - CLDN8 0 genome.wustl.edu 37 21 31587809 31587809 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 21 31587809 31587809 G A SNP CLDN8 ENST00000286809 human ensembl 69_37n -1 known silent c.435 p.I145 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14 - no_errors CLDN8 HGNC ENSG00000156284 60 0 0.00 70 27 27.84 - - - CNBD1 0 genome.wustl.edu 37 8 88249292 88249292 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 88249292 88249292 C G SNP CNBD1 ENST00000518476 human ensembl 69_37n +1 known missense c.723 p.F241L 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 155 0 0.00 108 28 20.59 - - - CNGB1 0 genome.wustl.edu 37 16 57994422 57994422 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 57994422 57994422 C T SNP CNGB1 ENST00000251102 human ensembl 69_37n -1 known missense c.547 p.E183K 0.010 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 23 0 0.00 39 19 32.76 - - - CPT2 0 genome.wustl.edu 37 1 53668050 53668050 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 53668050 53668050 G A SNP CPT2 ENST00000371486 human ensembl 69_37n +1 known missense c.289 p.E97K 0.001 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 99 0 0.00 82 31 27.43 - - - CRISPLD1 0 genome.wustl.edu 37 8 75898249 75898249 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 75898249 75898249 C T SNP CRISPLD1 ENST00000262207 human ensembl 69_37n +1 known silent c.27 p.L9 1.000 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 74 0 0.00 117 18 13.33 - - - CTNNA2 0 genome.wustl.edu 37 2 80097054 80097054 + Missense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 80097054 80097054 G T SNP CTNNA2 ENST00000361291 human ensembl 69_37n +1 known missense c.680 p.R227I 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 97 0 0.00 88 16 15.38 - - - CTNND2 0 genome.wustl.edu 37 5 11018106 11018106 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 11018106 11018106 G C SNP CTNND2 ENST00000304623 human ensembl 69_37n -1 known missense c.3064 p.L1022V 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 76 0 0.00 111 25 18.38 - - - CUBN 0 genome.wustl.edu 37 10 17087062 17087062 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 17087062 17087062 C G SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.3616 p.E1206Q 0.002 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 148 0 0.00 141 30 17.54 - - - CXorf30 0 genome.wustl.edu 37 X 36379490 36379490 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 36379490 36379490 C T SNP CXorf30 ENST00000378657 human ensembl 69_37n +1 known missense c.1235 p.S412F 1.000 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 126 0 0.00 67 11 14.10 - - - CYP11B1 0 genome.wustl.edu 37 8 143957264 143957264 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 143957264 143957264 C T SNP CYP11B1 ENST00000292427 human ensembl 69_37n -1 known missense c.985 p.E329K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 10 0 0.00 45 9 16.67 - - - CYP4F3 0 genome.wustl.edu 37 19 15757899 15757899 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 15757899 15757899 C T SNP CYP4F3 ENST00000587360 human ensembl 69_37n +1 known missense c.236 p.S79F 0.377 NULL NULL - no_errors CYP4F3 HGNC ENSG00000186529 116 0 0.00 141 40 22.10 - - - CYTIP 0 genome.wustl.edu 37 2 158272514 158272514 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 158272514 158272514 G A SNP CYTIP ENST00000264192 human ensembl 69_37n -1 known missense c.755 p.S252F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 23 0 0.00 48 8 14.29 - - - DAB2 0 genome.wustl.edu 37 5 39375157 39375157 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 39375157 39375157 C G SNP DAB2 ENST00000320816 human ensembl 69_37n -1 known missense c.2277 p.E759D 0.963 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB2 HGNC ENSG00000153071 187 0 0.00 107 30 21.90 - - - DCAF4L2 0 genome.wustl.edu 37 8 88886087 88886087 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 88886087 88886087 C T SNP DCAF4L2 ENST00000319675 human ensembl 69_37n -1 known missense c.113 p.R38K 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 45 0 0.00 75 11 12.79 - - - DCTN1 0 genome.wustl.edu 37 2 74594520 74594520 + Nonsense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 74594520 74594520 G A SNP DCTN1 ENST00000361874 human ensembl 69_37n -1 known nonsense c.2212 p.Q738* 0.998 pfam_Dynactin pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 70 0 0.00 135 34 20.12 - - - DDX26B 0 genome.wustl.edu 37 X 134715540 134715540 + Silent SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 134715540 134715540 C A SNP DDX26B ENST00000370752 human ensembl 69_37n +1 known silent c.2565 p.I855 1.000 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 169 0 0.00 140 32 18.60 - - - DDX52 0 genome.wustl.edu 37 17 35981176 35981176 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 35981176 35981176 C T SNP DDX52 ENST00000591354 human ensembl 69_37n -1 known missense c.43 p.D15N 1.000 pfam_Helicase_C,pfscan_Helicase_C pfam_Helicase_C,pfscan_Helicase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DDX52 HGNC ENSG00000141141 153 0 0.00 133 32 19.39 - - - DDX55 0 genome.wustl.edu 37 12 124101077 124101077 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 124101077 124101077 G A SNP DDX55 ENST00000238146 human ensembl 69_37n +1 known missense c.976 p.D326N 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX55 HGNC ENSG00000111364 147 0 0.00 170 49 22.27 - - - DDX60 0 genome.wustl.edu 37 4 169183193 169183193 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 4 169183193 169183193 C G SNP DDX60 ENST00000393743 human ensembl 69_37n -1 known missense c.3231 p.K1077N 0.786 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 391 0 0.00 140 39 21.79 - - - DENND2D 0 genome.wustl.edu 37 1 111737258 111737258 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 111737258 111737258 G C SNP DENND2D ENST00000357640 human ensembl 69_37n -1 known missense c.736 p.Q246E 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2D HGNC ENSG00000162777 36 0 0.00 49 15 23.44 - - - DEXI 0 genome.wustl.edu 37 16 11035707 11035707 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 11035707 11035707 G A SNP DEXI ENST00000331808 human ensembl 69_37n -1 known silent c.156 p.L52 0.997 prints_Dexamethasone-induced prints_Dexamethasone-induced - no_errors DEXI HGNC ENSG00000182108 16 0 0.00 97 17 14.91 - - - DFNA5 0 genome.wustl.edu 37 7 24749906 24749906 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 24749906 24749906 C G SNP DFNA5 ENST00000342947 human ensembl 69_37n -1 known missense c.799 p.D267H 0.016 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 41 0 0.00 83 24 22.43 - - - DFNB31 0 genome.wustl.edu 37 9 117188600 117188600 + Missense_Mutation SNP T T A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 9 117188600 117188600 T A SNP DFNB31 ENST00000362057 human ensembl 69_37n -1 known missense c.1057 p.I353F 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 17 0 0.00 48 13 21.31 - - - DHX38 0 genome.wustl.edu 37 16 72133171 72133171 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 72133171 72133171 G A SNP DHX38 ENST00000268482 human ensembl 69_37n +1 known missense c.952 p.D318N 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 27 0 0.00 22 19 46.34 - - - DHX57 0 genome.wustl.edu 37 2 39050344 39050344 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 39050344 39050344 G C SNP DHX57 ENST00000295373 human ensembl 69_37n -1 known missense c.3082 p.P1028A 1.000 NULL pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 60 0 0.00 31 5 13.89 - - - DIP2B 0 genome.wustl.edu 37 12 51076995 51076995 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 51076995 51076995 G A SNP DIP2B ENST00000301180 human ensembl 69_37n +1 known silent c.1281 p.V427 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 223 0 0.00 226 45 16.54 - - - DNAH2 0 genome.wustl.edu 37 17 7691442 7691442 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 7691442 7691442 C T SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known silent c.6780 p.L2260 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 36 0 0.00 47 22 31.43 - - - DNAH7 0 genome.wustl.edu 37 2 196699060 196699060 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 196699060 196699060 C G SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.8970 p.M2990I 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 180 0 0.00 132 28 17.50 - - - DNAH7 0 genome.wustl.edu 37 2 196825113 196825113 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 196825113 196825113 G C SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.2762 p.S921C 0.224 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 95 0 0.00 77 13 14.44 - - - DROSHA 0 genome.wustl.edu 37 5 31409170 31409170 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 31409170 31409170 G C SNP DROSHA ENST00000344624 human ensembl 69_37n -1 known missense c.3847 p.L1283V 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 59 0 0.00 50 14 21.88 - - - DSE 0 genome.wustl.edu 37 6 116757151 116757151 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 116757151 116757151 C T SNP DSE ENST00000537543 human ensembl 69_37n +1 known missense c.1577 p.S526L 0.997 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 33 0 0.00 31 7 18.42 - - - DZIP3 0 genome.wustl.edu 37 3 108407718 108407718 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 108407718 108407718 C T SNP DZIP3 ENST00000361582 human ensembl 69_37n +1 known silent c.3463 p.L1155 0.997 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 152 0 0.00 139 35 20.11 - - - EDN3 0 genome.wustl.edu 37 20 57876668 57876668 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 57876668 57876668 G A SNP EDN3 ENST00000337938 human ensembl 69_37n +1 known missense c.256 p.E86K 0.000 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN3 HGNC ENSG00000124205 11 0 0.00 38 9 18.75 - - - EME1 0 genome.wustl.edu 37 17 48456488 48456488 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 48456488 48456488 G A SNP EME1 ENST00000393271 human ensembl 69_37n +1 known missense c.1172 p.R391K 0.420 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME1 HGNC ENSG00000154920 89 0 0.00 154 24 13.41 - - - EML6 0 genome.wustl.edu 37 2 55126862 55126862 + Missense_Mutation SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 55126862 55126862 C A SNP EML6 ENST00000356458 human ensembl 69_37n +1 novel missense c.3067 p.R1023S 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 31 0 0.00 32 14 30.43 - - - ENSG00000254553 0 genome.wustl.edu 37 1 32950879 32950879 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 32950879 32950879 G C SNP ENSG00000254553 ENST00000480336 human ensembl 69_37n +1 known missense c.1348 p.E450Q 0.981 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors RP1-27O5.3 Clone_based_vega_gene ENSG00000254553 58 0 0.00 39 24 38.10 - - - EPGN 0 genome.wustl.edu 37 4 75174841 75174841 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 4 75174841 75174841 G A SNP EPGN ENST00000446430 human ensembl 69_37n +1 novel missense c.28 p.D10N 0.000 NULL pfscan_EG-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EPGN HGNC ENSG00000182585 42 0 0.00 58 9 13.24 - - - ERCC6 0 genome.wustl.edu 37 10 50678496 50678496 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 50678496 50678496 C T SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known silent c.3510 p.E1170 0.017 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 155 0 0.00 151 22 12.72 - - - ERCC6 0 genome.wustl.edu 37 10 50736490 50736490 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 50736490 50736490 C G SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known missense c.625 p.D209H 0.065 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 183 0 0.00 404 62 13.30 - - - ESX1 0 genome.wustl.edu 37 X 103499124 103499124 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 103499124 103499124 C T SNP ESX1 ENST00000372588 human ensembl 69_37n -1 known missense c.217 p.D73N 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain - no_errors ESX1 HGNC ENSG00000123576 13 0 0.00 32 10 23.81 - - - EXOSC10 0 genome.wustl.edu 37 1 11137494 11137494 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 11137494 11137494 C G SNP EXOSC10 ENST00000376936 human ensembl 69_37n -1 known missense c.1807 p.E603Q 1.000 NULL pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C - no_errors EXOSC10 HGNC ENSG00000171824 27 0 0.00 30 8 21.05 - - - FAM120A 0 genome.wustl.edu 37 9 96326563 96326563 + Nonsense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 9 96326563 96326563 C G SNP FAM120A ENST00000333936 human ensembl 69_37n +1 known nonsense c.3182 p.S1061* 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 27 0 0.00 28 12 29.27 - - - FAM123B 0 genome.wustl.edu 37 X 63410170 63410170 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 63410170 63410170 C T SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known missense c.2997 p.M999I 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 43 0 0.00 65 16 19.75 - - - FAM186A 0 genome.wustl.edu 37 12 50724375 50724375 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 50724375 50724375 G C SNP FAM186A ENST00000327337 human ensembl 69_37n -1 known missense c.7015 p.L2339V 1.000 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 45 0 0.00 82 16 16.33 - - - FAM198A 0 genome.wustl.edu 37 3 43095055 43095055 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 43095055 43095055 G C SNP FAM198A ENST00000273146 human ensembl 69_37n +1 known missense c.1333 p.E445Q 0.995 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 10 0 0.00 27 7 20.59 - - - FAM210B 0 genome.wustl.edu 37 20 54941255 54941255 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 54941255 54941255 G C SNP FAM210B ENST00000371384 human ensembl 69_37n +1 known missense c.491 p.R164T 0.976 pfam_DUF1279 pfam_DUF1279 - no_errors FAM210B HGNC ENSG00000124098 129 0 0.00 223 43 16.17 - - - FANCD2 0 genome.wustl.edu 37 3 10107574 10107574 + Nonsense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 10107574 10107574 G T SNP FANCD2 ENST00000287647 human ensembl 69_37n +1 known nonsense c.2296 p.E766* 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 162 0 0.00 145 39 21.08 - - - FBXL18 0 genome.wustl.edu 37 7 5541259 5541259 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 5541259 5541259 G A SNP FBXL18 ENST00000453700 human ensembl 69_37n -1 known missense c.641 p.S214L 0.995 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL18 HGNC ENSG00000155034 9 0 0.00 26 6 18.75 - - - FBXO30 0 genome.wustl.edu 37 6 146126650 146126650 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 146126650 146126650 C T SNP FBXO30 ENST00000237281 human ensembl 69_37n -1 known missense c.892 p.D298N 0.600 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 129 0 0.00 109 17 13.49 - - - FCHO1 0 genome.wustl.edu 37 19 17888953 17888953 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 17888953 17888953 G C SNP FCHO1 ENST00000252771 human ensembl 69_37n +1 known missense c.1267 p.E423Q 0.888 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH - no_errors FCHO1 HGNC ENSG00000130475 53 0 0.00 82 16 16.33 - - - FDPS 0 genome.wustl.edu 37 1 155282164 155282164 + Missense_Mutation SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 155282164 155282164 C A SNP FDPS ENST00000356657 human ensembl 69_37n +1 known missense c.458 p.T153N 0.172 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 53 0 0.00 127 24 15.89 - - - FGD6 0 genome.wustl.edu 37 12 95498801 95498801 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 95498801 95498801 G A SNP FGD6 ENST00000343958 human ensembl 69_37n -1 known missense c.3479 p.S1160F 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 193 0 0.00 84 17 16.83 - - - FLI1 0 genome.wustl.edu 37 11 128651915 128651915 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 128651915 128651915 G C SNP FLI1 ENST00000429175 human ensembl 69_37n +1 known missense c.652 p.E218Q 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors FLI1 HGNC ENSG00000151702 139 0 0.00 160 36 18.37 - - - FOLR4 0 genome.wustl.edu 37 11 94038866 94038866 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 94038866 94038866 G A SNP FOLR4 ENST00000440961 human ensembl 69_37n +1 novel missense c.64 p.E22K 0.037 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR4 HGNC ENSG00000183560 9 0 0.00 30 7 18.92 - - - FOXJ2 0 genome.wustl.edu 37 12 8200740 8200740 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 8200740 8200740 C T SNP FOXJ2 ENST00000162391 human ensembl 69_37n +1 known silent c.1080 p.P360 0.761 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 9 0 0.00 43 10 18.52 - - - FRMPD2 0 genome.wustl.edu 37 10 49414927 49414927 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 49414927 49414927 G A SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known missense c.1661 p.S554L 1.000 pfscan_FERM_domain pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 85 0 0.00 215 27 11.16 - - - GALNT9 0 genome.wustl.edu 37 12 132862887 132862887 + Missense_Mutation SNP A A G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 132862887 132862887 A G SNP GALNT9 ENST00000328957 human ensembl 69_37n -1 known missense c.368 p.L123P 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 8 0 0.00 31 6 16.22 - - - GDPD2 0 genome.wustl.edu 37 X 69650936 69650936 + Nonsense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 69650936 69650936 C T SNP GDPD2 ENST00000453994 human ensembl 69_37n +1 known nonsense c.1420 p.Q474* 0.006 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 94 0 0.00 96 25 20.66 - - - GIMAP2 0 genome.wustl.edu 37 7 150389612 150389612 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 150389612 150389612 G C SNP GIMAP2 ENST00000223293 human ensembl 69_37n +1 known missense c.238 p.D80H 0.850 pfam_AIG1 pfam_AIG1 - no_errors GIMAP2 HGNC ENSG00000106560 67 0 0.00 79 19 19.39 - - - GLP2R 0 genome.wustl.edu 37 17 9757871 9757871 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 9757871 9757871 C T SNP GLP2R ENST00000458005 human ensembl 69_37n +1 putative missense c.122 p.S41F 0.645 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GLP2R HGNC ENSG00000065325 224 0 0.00 265 71 21.13 - - - GMIP 0 genome.wustl.edu 37 19 19750962 19750962 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 19750962 19750962 C T SNP GMIP ENST00000203556 human ensembl 69_37n -1 known missense c.469 p.E157K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 68 0 0.00 203 34 14.29 - - - GPR101 0 genome.wustl.edu 37 X 136112924 136112924 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 136112924 136112924 C T SNP GPR101 ENST00000298110 human ensembl 69_37n -1 known missense c.910 p.E304K 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 74 0 0.00 160 45 21.95 - - - GRHL3 0 genome.wustl.edu 37 1 24664133 24664133 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 24664133 24664133 G C SNP GRHL3 ENST00000350501 human ensembl 69_37n +1 known missense c.694 p.E232Q 1.000 pfam_CP2 pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC ENSG00000158055 36 0 0.00 49 21 30.00 - - - GRIPAP1 0 genome.wustl.edu 37 X 48841752 48841752 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 48841752 48841752 C T SNP GRIPAP1 ENST00000376441 human ensembl 69_37n -1 known missense c.1105 p.E369K 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 83 0 0.00 212 49 18.70 - - - GTF3C5 0 genome.wustl.edu 37 9 135933239 135933239 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 9 135933239 135933239 G C SNP GTF3C5 ENST00000372108 human ensembl 69_37n +1 known missense c.1453 p.E485Q 0.998 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 14 0 0.00 24 11 31.43 - - - HEATR8 0 genome.wustl.edu 37 1 55145599 55145599 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 55145599 55145599 G A SNP HEATR8 ENST00000421030 human ensembl 69_37n +1 known silent c.2262 p.L754 0.850 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 13 0 0.00 24 9 27.27 - - - HHIPL2 0 genome.wustl.edu 37 1 222721350 222721350 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 222721350 222721350 G A SNP HHIPL2 ENST00000343410 human ensembl 69_37n -1 known silent c.37 p.L13 0.021 NULL pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 22 0 0.00 74 14 15.73 - - - HIF1A 0 genome.wustl.edu 37 14 62193473 62193473 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 62193473 62193473 C G SNP HIF1A ENST00000539097 human ensembl 69_37n +1 known silent c.579 p.L193 0.997 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 192 0 0.00 189 47 19.83 - - - HIST1H2AB 0 genome.wustl.edu 37 6 26033433 26033433 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 26033433 26033433 C G SNP HIST1H2AB ENST00000259791 human ensembl 69_37n -1 known missense c.364 p.E122Q 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AB HGNC ENSG00000137259 26 0 0.00 68 14 17.07 - - - HIST1H3B 0 genome.wustl.edu 37 6 26032049 26032049 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 26032049 26032049 C G SNP HIST1H3B ENST00000244661 human ensembl 69_37n -1 known missense c.240 p.K80N 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 31 0 0.00 42 19 31.15 - - - HIST2H2BE 0 genome.wustl.edu 37 1 149858071 149858071 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 149858071 149858071 G C SNP HIST2H2BE ENST00000369155 human ensembl 69_37n -1 known missense c.120 p.I40M 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC ENSG00000184678 112 0 0.00 218 66 23.24 - - - HLA-DMB 0 genome.wustl.edu 37 6 32904950 32904950 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 32904950 32904950 C G SNP HLA-DMB ENST00000418107 human ensembl 69_37n -1 known missense c.621 p.W207C 1.000 NULL 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 29 0 0.00 55 8 12.70 - - - HNRNPM 0 genome.wustl.edu 37 19 8533661 8533661 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 8533661 8533661 G A SNP HNRNPM ENST00000325495 human ensembl 69_37n +1 known missense c.838 p.E280K 1.000 pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 104 0 0.00 90 19 17.43 - - - HOXA13 0 genome.wustl.edu 37 7 27237824 27237824 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 27237824 27237824 G C SNP HOXA13 ENST00000222753 human ensembl 69_37n -1 known missense c.1160 p.T387S 1.000 NULL pfam_HoxA13_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1 - no_errors HOXA13 HGNC ENSG00000106031 382 0 0.00 387 74 16.05 - - - HP 0 genome.wustl.edu 37 16 72094180 72094180 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 72094180 72094180 C T SNP HP ENST00000567185 human ensembl 69_37n +1 novel missense c.604 p.L202F 0.999 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HP HGNC ENSG00000257017 68 0 0.00 57 17 22.97 - - - HRC 0 genome.wustl.edu 37 19 49655283 49655283 + Silent SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 49655283 49655283 G C SNP HRC ENST00000252825 human ensembl 69_37n -1 known silent c.2004 p.V668 1.000 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 16 0 0.00 38 15 28.30 - - - HS6ST1 0 genome.wustl.edu 37 2 129026048 129026048 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 129026048 129026048 G C SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.924 p.F308L 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 14 0 0.00 31 9 22.50 - - - HTATSF1 0 genome.wustl.edu 37 X 135593186 135593186 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 135593186 135593186 G A SNP HTATSF1 ENST00000218364 human ensembl 69_37n +1 known missense c.1282 p.E428K 0.811 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 38 0 0.00 30 9 23.08 - - - HTR1D 0 genome.wustl.edu 37 1 23519996 23519996 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 23519996 23519996 G A SNP HTR1D ENST00000314113 human ensembl 69_37n -1 known silent c.717 p.F239 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1D_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 29 0 0.00 30 11 26.83 - - - HYOU1 0 genome.wustl.edu 37 11 118926849 118926849 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 118926849 118926849 C T SNP HYOU1 ENST00000404233 human ensembl 69_37n -1 known silent c.24 p.Q8 1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 44 0 0.00 86 16 15.69 - - - IBTK 0 genome.wustl.edu 37 6 82927697 82927697 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 82927697 82927697 C G SNP IBTK ENST00000306270 human ensembl 69_37n -1 known missense c.1406 p.R469T 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 339 0 0.00 214 62 22.46 - - - IFI16 0 genome.wustl.edu 37 1 159021644 159021644 + Missense_Mutation SNP A A T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 159021644 159021644 A T SNP IFI16 ENST00000295809 human ensembl 69_37n +1 known missense c.1841 p.K614M 1.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 78 0 0.00 55 66 54.55 - - - IGLV5-48 0 genome.wustl.edu 37 22 22707577 22707577 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 22 22707577 22707577 C T SNP IGLV5-48 ENST00000390293 human ensembl 69_37n +1 known silent c.165 p.F55 0.027 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGLV5-48 HGNC ENSG00000211647 43 0 0.00 52 20 27.78 - - - IL6 0 genome.wustl.edu 37 7 22769291 22769291 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 22769291 22769291 C T SNP IL6 ENST00000420258 human ensembl 69_37n +1 known silent c.645 p.S215 0.000 smart_IL6_MGF_GCSF pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core,smart_IL6_MGF_GCSF,prints_Interleukin_6,prints_IL6_MGF_GCSF - no_errors IL6 HGNC ENSG00000136244 171 0 0.00 233 35 13.06 - - - IPO8 0 genome.wustl.edu 37 12 30834604 30834604 + Silent SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 30834604 30834604 C A SNP IPO8 ENST00000256079 human ensembl 69_37n -1 known silent c.471 p.V157 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 73 0 0.00 118 21 15.00 - - - IQGAP2 0 genome.wustl.edu 37 5 75906999 75906999 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 75906999 75906999 G A SNP IQGAP2 ENST00000274364 human ensembl 69_37n +1 known silent c.1512 p.Q504 0.961 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 151 0 0.00 111 35 23.97 - - - IQSEC2 0 genome.wustl.edu 37 X 53267381 53267381 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 53267381 53267381 C T SNP IQSEC2 ENST00000396435 human ensembl 69_37n -1 known missense c.3223 p.D1075N 1.000 smart_Pleckstrin_homology pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ENSG00000124313 34 0 0.00 82 21 20.39 - - - IRF6 0 genome.wustl.edu 37 1 209974721 209974721 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 209974721 209974721 C G SNP IRF6 ENST00000367021 human ensembl 69_37n -1 known missense c.38 p.W13S 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 40 0 0.00 46 13 22.03 - - - ISM2 0 genome.wustl.edu 37 14 77942061 77942061 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 77942061 77942061 G A SNP ISM2 ENST00000342219 human ensembl 69_37n -1 known silent c.1593 p.I531 1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 11 0 0.00 53 10 15.62 - - - ITPR2 0 genome.wustl.edu 37 12 26748416 26748416 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 26748416 26748416 G A SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known silent c.4362 p.F1454 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 248 0 0.00 179 35 16.36 - - - KAT2B 0 genome.wustl.edu 37 3 20167519 20167519 + Silent SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 20167519 20167519 G T SNP KAT2B ENST00000263754 human ensembl 69_37n +1 known silent c.1536 p.L512 1.000 pirsf_Hist_acetylase_PCAF,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2B HGNC ENSG00000114166 61 0 0.00 57 14 19.72 - - - KCNT2 0 genome.wustl.edu 37 1 196295947 196295947 + Nonsense_Mutation SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 196295947 196295947 C A SNP KCNT2 ENST00000294725 human ensembl 69_37n -1 known nonsense c.2176 p.E726* 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 202 0 0.00 125 26 17.22 - - - KIAA0146 0 genome.wustl.edu 37 8 48647973 48647973 + Nonsense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 48647973 48647973 C T SNP KIAA0146 ENST00000518074 human ensembl 69_37n +1 putative nonsense c.2530 p.R844* 0.009 NULL NULL - no_errors KIAA0146 HGNC ENSG00000164808 80 0 0.00 197 35 15.02 - - - KIAA1551 0 genome.wustl.edu 37 12 32138135 32138135 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 32138135 32138135 G A SNP KIAA1551 ENST00000312561 human ensembl 69_37n +1 known missense c.4246 p.E1416K 0.122 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 63 0 0.00 62 14 18.42 - - - KIF3B 0 genome.wustl.edu 37 20 30898618 30898618 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 30898618 30898618 C T SNP KIF3B ENST00000375712 human ensembl 69_37n +1 known silent c.1038 p.V346 1.000 smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 41 0 0.00 54 13 19.40 - - - KLHL18 0 genome.wustl.edu 37 3 47385248 47385248 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 47385248 47385248 G A SNP KLHL18 ENST00000232766 human ensembl 69_37n +1 known silent c.1542 p.R514 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 18 0 0.00 41 12 22.64 - - - KRT38 0 genome.wustl.edu 37 17 39595484 39595484 + Nonsense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 39595484 39595484 G A SNP KRT38 ENST00000246646 human ensembl 69_37n -1 known nonsense c.703 p.Q235* 0.996 pfam_F pfam_F,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 17 0 0.00 43 18 29.51 - - - LHCGR 0 genome.wustl.edu 37 2 48915942 48915942 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 48915942 48915942 C G SNP LHCGR ENST00000294954 human ensembl 69_37n -1 known missense c.994 p.E332Q 1.000 prints_LSH_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors LHCGR HGNC ENSG00000138039 104 0 0.00 102 22 17.74 - - - LHX8 0 genome.wustl.edu 37 1 75622602 75622602 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 75622602 75622602 C T SNP LHX8 ENST00000294638 human ensembl 69_37n +1 known missense c.835 p.R279C 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 LHX8 HGNC ENSG00000162624 174 0 0.00 120 45 27.27 - - - LIFR 0 genome.wustl.edu 37 5 38504178 38504178 + Nonsense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 38504178 38504178 G C SNP LIFR ENST00000263409 human ensembl 69_37n -1 known nonsense c.1337 p.S446* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 109 0 0.00 51 6 10.53 - - - LMOD1 0 genome.wustl.edu 37 1 201869306 201869306 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 201869306 201869306 C T SNP LMOD1 ENST00000367288 human ensembl 69_37n -1 known missense c.835 p.E279K 0.000 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 142 0 0.00 168 36 17.56 - - - LRPPRC 0 genome.wustl.edu 37 2 44121732 44121732 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 44121732 44121732 C G SNP LRPPRC ENST00000260665 human ensembl 69_37n -1 known missense c.3937 p.E1313Q 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 204 0 0.00 116 21 15.33 - - - LRRC16A 0 genome.wustl.edu 37 6 25510753 25510753 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 25510753 25510753 C T SNP LRRC16A ENST00000329474 human ensembl 69_37n +1 novel missense c.1496 p.S499F 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 263 0 0.00 102 28 21.54 - - - LRRTM3 0 genome.wustl.edu 37 10 68687691 68687691 + Silent SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 68687691 68687691 C A SNP LRRTM3 ENST00000361320 human ensembl 69_37n +1 known silent c.1017 p.I339 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 107 0 0.00 47 28 37.33 - - - LSAMP 0 genome.wustl.edu 37 3 115529227 115529227 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 115529227 115529227 G A SNP LSAMP ENST00000490035 human ensembl 69_37n -1 known silent c.954 p.I318 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LSAMP HGNC ENSG00000185565 14 0 0.00 27 5 15.62 - - - MAP4 0 genome.wustl.edu 37 3 48040186 48040186 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 48040186 48040186 C T SNP MAP4 ENST00000423088 human ensembl 69_37n -1 putative missense c.185 p.R62K 0.997 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAP4 HGNC ENSG00000047849 229 0 0.00 137 50 26.74 - - - MAP7D3 0 genome.wustl.edu 37 X 135309524 135309524 + Missense_Mutation SNP T T A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 135309524 135309524 T A SNP MAP7D3 ENST00000370663 human ensembl 69_37n -1 known missense c.1899 p.K633N 0.000 pfam_E-MAP-115 pfam_E-MAP-115 - no_errors MAP7D3 HGNC ENSG00000129680 438 0 0.00 316 84 21.00 - - - MDH1 0 genome.wustl.edu 37 2 63824532 63824532 + Splice_Site SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 63824532 63824532 G A SNP MDH1 ENST00000539945 human ensembl 69_37n +1 known splice_site c.254-1 e4-1 1.000 - - - no_errors MDH1 HGNC ENSG00000014641 55 0 0.00 55 11 16.67 - - - MEF2B 0 genome.wustl.edu 37 19 19257861 19257861 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 19257861 19257861 G A SNP MEF2B ENST00000162023 human ensembl 69_37n -1 known silent c.525 p.P175 1.000 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2B HGNC ENSG00000213999 10 0 0.00 27 6 18.18 - - - METTL13 0 genome.wustl.edu 37 1 171753159 171753159 + Nonsense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 171753159 171753159 G T SNP METTL13 ENST00000361735 human ensembl 69_37n +1 known nonsense c.433 p.E145* 1.000 pfam_Methyltransf_11 pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 30 0 0.00 100 29 22.31 - - - MGAM 0 genome.wustl.edu 37 7 141736724 141736724 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 141736724 141736724 C G SNP MGAM ENST00000549489 human ensembl 69_37n +1 known silent c.2178 p.L726 0.987 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 100 0 0.00 146 26 15.12 - - - MIR204 0 genome.wustl.edu 37 9 73424946 73424946 + RNA SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 9 73424946 73424946 C G SNP MIR204 ENST00000385200 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MIR204 HGNC ENSG00000207935 93 0 0.00 80 29 26.61 - - - MMP16 0 genome.wustl.edu 37 8 89086949 89086949 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 89086949 89086949 C G SNP MMP16 ENST00000286614 human ensembl 69_37n -1 known missense c.1106 p.R369T 1.000 pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 107 0 0.00 133 27 16.88 - - - MRPL18 0 genome.wustl.edu 37 6 160218324 160218324 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 160218324 160218324 G A SNP MRPL18 ENST00000367034 human ensembl 69_37n +1 known missense c.245 p.R82Q 0.998 pfam_Ribosomal_L18/L5 pfam_Ribosomal_L18/L5 - no_errors MRPL18 HGNC ENSG00000112110 92 0 0.00 108 29 21.17 - - - MST1 0 genome.wustl.edu 37 3 49724598 49724598 + Nonsense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 49724598 49724598 G C SNP MST1 ENST00000545762 human ensembl 69_37n -1 known nonsense c.434 p.S145* 1.000 NULL pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app - no_errors MST1 HGNC ENSG00000173531 12 0 0.00 33 20 37.74 - - - MST1R 0 genome.wustl.edu 37 3 49933743 49933743 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 49933743 49933743 C T SNP MST1R ENST00000296474 human ensembl 69_37n -1 known missense c.2534 p.R845Q 0.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 26 0 0.00 35 21 36.84 - - - MTBP 0 genome.wustl.edu 37 8 121463465 121463465 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 121463465 121463465 G A SNP MTBP ENST00000305949 human ensembl 69_37n +1 known missense c.328 p.E110K 1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 261 0 0.00 241 40 14.23 - - - MTMR3 0 genome.wustl.edu 37 22 30415818 30415818 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 22 30415818 30415818 G A SNP MTMR3 ENST00000401950 human ensembl 69_37n +1 known missense c.2170 p.E724K 0.022 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 32 0 0.00 25 6 19.35 - - - MUC16 0 genome.wustl.edu 37 19 9058093 9058093 + Missense_Mutation SNP T T C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 9058093 9058093 T C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.29353 p.N9785D 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 86 0 0.00 54 31 36.47 - - - MXRA5 0 genome.wustl.edu 37 X 3242463 3242463 + Silent SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 3242463 3242463 C A SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known silent c.1263 p.V421 0.503 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 60 0 0.00 74 15 16.85 - - - MXRA5 0 genome.wustl.edu 37 X 3248697 3248697 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 3248697 3248697 G A SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known silent c.306 p.L102 0.001 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 127 0 0.00 120 39 24.53 - - - MYL12A 0 genome.wustl.edu 37 18 3253328 3253328 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 18 3253328 3253328 C T SNP MYL12A ENST00000217652 human ensembl 69_37n +1 known missense c.83 p.S28L 1.000 pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12A HGNC ENSG00000101608 164 0 0.00 122 53 30.29 - - - MYPOP 0 genome.wustl.edu 37 19 46393934 46393934 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 46393934 46393934 G C SNP MYPOP ENST00000322217 human ensembl 69_37n -1 known missense c.1147 p.R383G 0.999 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYPOP HGNC ENSG00000176182 8 0 0.00 13 11 45.83 - - - NACA 0 genome.wustl.edu 37 12 57112229 57112229 + Missense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 57112229 57112229 G T SNP NACA ENST00000454682 human ensembl 69_37n -1 known missense c.3085 p.P1029T 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA HGNC ENSG00000196531 9 0 0.00 15 5 25.00 - - - NACAD 0 genome.wustl.edu 37 7 45124506 45124506 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 45124506 45124506 C T SNP NACAD ENST00000490531 human ensembl 69_37n -1 known missense c.1273 p.E425K 0.213 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 12 0 0.00 39 9 18.75 - - - NARF 0 genome.wustl.edu 37 17 80441594 80441594 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 80441594 80441594 G A SNP NARF ENST00000309794 human ensembl 69_37n +1 known missense c.772 p.E258K 1.000 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 100 0 0.00 143 55 27.64 - - - NBPF3 0 genome.wustl.edu 37 1 21800026 21800026 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 21800026 21800026 C T SNP NBPF3 ENST00000318249 human ensembl 69_37n +1 known silent c.888 p.L296 0.006 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 280 0 0.00 185 52 21.94 - - - NCAPD3 0 genome.wustl.edu 37 11 134047318 134047318 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 134047318 134047318 C T SNP NCAPD3 ENST00000534548 human ensembl 69_37n -1 known silent c.2817 p.K939 1.000 superfamily_ARM-type_fold,pirsf_Condns_HCP-6 superfamily_ARM-type_fold,pirsf_Condns_HCP-6 - no_errors NCAPD3 HGNC ENSG00000151503 26 0 0.00 56 15 21.13 - - - NCOA5 0 genome.wustl.edu 37 20 44708029 44708029 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 44708029 44708029 C T SNP NCOA5 ENST00000290231 human ensembl 69_37n -1 known missense c.35 p.R12Q 1.000 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 253 0 0.00 262 75 22.26 - - - NFAT5 0 genome.wustl.edu 37 16 69718792 69718792 + Splice_Site SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 69718792 69718792 G T SNP NFAT5 ENST00000567990 human ensembl 69_37n +1 known splice_site c.360-1 e6-1 0.992 - - - no_errors NFAT5 HGNC ENSG00000102908 178 0 0.00 66 17 20.48 - - - NLRC5 0 genome.wustl.edu 37 16 57070087 57070087 + Nonsense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 57070087 57070087 G T SNP NLRC5 ENST00000545081 human ensembl 69_37n +1 known nonsense c.1885 p.E629* 0.952 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NLRC5 HGNC ENSG00000140853 9 0 0.00 17 13 43.33 - - - NLRP14 0 genome.wustl.edu 37 11 7067969 7067969 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 7067969 7067969 G C SNP NLRP14 ENST00000299481 human ensembl 69_37n +1 known missense c.2029 p.E677Q 0.998 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 131 0 0.00 87 26 23.01 - - - NLRP2 0 genome.wustl.edu 37 19 55493625 55493625 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 55493625 55493625 G C SNP NLRP2 ENST00000448584 human ensembl 69_37n +1 known missense c.559 p.E187Q 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 38 0 0.00 86 11 11.34 - - - NOP14 0 genome.wustl.edu 37 4 2951877 2951877 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 4 2951877 2951877 C T SNP NOP14 ENST00000416614 human ensembl 69_37n -1 known missense c.1066 p.E356K 0.005 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 228 0 0.00 316 73 18.77 - - - NOS2 0 genome.wustl.edu 37 17 26101330 26101330 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 26101330 26101330 G A SNP NOS2 ENST00000313735 human ensembl 69_37n -1 known missense c.1429 p.H477Y 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 76 0 0.00 129 23 15.13 - - - NOTCH1 0 genome.wustl.edu 37 9 139393424 139393424 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 9 139393424 139393424 G A SNP NOTCH1 ENST00000277541 human ensembl 69_37n -1 known missense c.6107 p.A2036V 0.998 pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 28 0 0.00 113 31 21.53 - - - NOTCH4 0 genome.wustl.edu 37 6 32190850 32190850 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 32190850 32190850 C G SNP NOTCH4 ENST00000375023 human ensembl 69_37n -1 known silent c.87 p.G29 0.000 smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 11 0 0.00 70 16 18.60 - - - NPAT 0 genome.wustl.edu 37 11 108057261 108057261 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 108057261 108057261 G C SNP NPAT ENST00000278612 human ensembl 69_37n -1 known missense c.674 p.P225R 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 302 0 0.00 144 80 35.56 - - - NT5E 0 genome.wustl.edu 37 6 86197154 86197154 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 86197154 86197154 C G SNP NT5E ENST00000257770 human ensembl 69_37n +1 known missense c.1051 p.Q351E 0.000 pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC ENSG00000135318 124 1 0.80 111 32 22.22 - - - NUFIP2 0 genome.wustl.edu 37 17 27613780 27613780 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 27613780 27613780 G A SNP NUFIP2 ENST00000225388 human ensembl 69_37n -1 known missense c.1232 p.S411F 1.000 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 122 0 0.00 125 27 17.76 - - - NUFIP2 0 genome.wustl.edu 37 17 27613855 27613855 + Missense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 27613855 27613855 G T SNP NUFIP2 ENST00000225388 human ensembl 69_37n -1 known missense c.1157 p.S386Y 1.000 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 170 0 0.00 164 46 21.90 - - - NUFIP2 0 genome.wustl.edu 37 17 27614141 27614141 + Nonsense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 27614141 27614141 G A SNP NUFIP2 ENST00000225388 human ensembl 69_37n -1 known nonsense c.871 p.R291* 0.910 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 151 0 0.00 136 33 19.53 - - - NUP205 0 genome.wustl.edu 37 7 135261125 135261125 + Nonsense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 135261125 135261125 C T SNP NUP205 ENST00000285968 human ensembl 69_37n +1 known nonsense c.451 p.Q151* 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 140 0 0.00 182 32 14.95 - - - NUP93 0 genome.wustl.edu 37 16 56782199 56782199 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 56782199 56782199 G A SNP NUP93 ENST00000308159 human ensembl 69_37n +1 known missense c.40 p.E14K 1.000 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 25 0 0.00 21 11 34.38 - - - NXF3 0 genome.wustl.edu 37 X 102338576 102338576 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 102338576 102338576 C G SNP NXF3 ENST00000395065 human ensembl 69_37n -1 known missense c.396 p.L132F 0.240 pfam_Tap_RNA-bd pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC ENSG00000147206 208 0 0.00 209 52 19.92 - - - OR2A2 0 genome.wustl.edu 37 7 143807338 143807338 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 143807338 143807338 C T SNP OR2A2 ENST00000408979 human ensembl 69_37n +1 known silent c.663 p.L221 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2A2 HGNC ENSG00000221989 64 0 0.00 52 17 24.29 - - - OR2F1 0 genome.wustl.edu 37 7 143657556 143657556 + Nonsense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 143657556 143657556 C T SNP OR2F1 ENST00000392899 human ensembl 69_37n +1 known nonsense c.493 p.Q165* 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 122 0 0.00 259 46 15.08 - - - OR2F1 0 genome.wustl.edu 37 7 143657696 143657696 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 143657696 143657696 C T SNP OR2F1 ENST00000392899 human ensembl 69_37n +1 known silent c.633 p.F211 0.002 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 275 0 0.00 355 81 18.58 - - - OR2F1 0 genome.wustl.edu 37 7 143657793 143657793 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 143657793 143657793 C G SNP OR2F1 ENST00000392899 human ensembl 69_37n +1 known missense c.730 p.H244D 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 205 0 0.00 281 68 19.48 - - - OR4K15 0 genome.wustl.edu 37 14 20444652 20444652 + Silent SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 20444652 20444652 G C SNP OR4K15 ENST00000305051 human ensembl 69_37n +1 known silent c.975 p.L325 0.998 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4K15 HGNC ENSG00000169488 141 0 0.00 105 22 17.32 - - - OR51A7 0 genome.wustl.edu 37 11 4929293 4929293 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 4929293 4929293 G C SNP OR51A7 ENST00000359350 human ensembl 69_37n +1 known missense c.694 p.E232Q 0.053 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A7 HGNC ENSG00000176895 135 0 0.00 98 46 31.94 - - - OR6A2 0 genome.wustl.edu 37 11 6816236 6816236 + Nonsense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 6816236 6816236 G T SNP OR6A2 ENST00000332601 human ensembl 69_37n -1 known nonsense c.704 p.S235* 0.125 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6A2 HGNC ENSG00000184933 37 0 0.00 34 11 24.44 - - - OR6C2 0 genome.wustl.edu 37 12 55846936 55846936 + Nonstop_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 55846936 55846936 G C SNP OR6C2 ENST00000322678 human ensembl 69_37n +1 known nonstop c.939 p.*313Y 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C2 HGNC ENSG00000179695 86 0 0.00 56 8 12.50 - - - PAFAH1B1 0 genome.wustl.edu 37 17 2569362 2569362 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 2569362 2569362 C G SNP PAFAH1B1 ENST00000397195 human ensembl 69_37n +1 known missense c.170 p.S57C 1.000 pirsf_Dynein_regulator pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 99 0 0.00 16 10 38.46 - - - PAOX 0 genome.wustl.edu 37 10 135194991 135194991 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 135194991 135194991 G A SNP PAOX ENST00000278060 human ensembl 69_37n +1 known missense c.696 p.M232I 0.002 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 25 0 0.00 34 23 39.66 - - - PCCA 0 genome.wustl.edu 37 13 100915005 100915005 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 13 100915005 100915005 C G SNP PCCA ENST00000376285 human ensembl 69_37n +1 known missense c.739 p.Q247E 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 157 0 0.00 46 13 22.03 - - - PCDHGB1 0 genome.wustl.edu 37 5 140730032 140730032 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 140730032 140730032 G A SNP PCDHGB1 ENST00000523390 human ensembl 69_37n +1 known missense c.205 p.E69K 0.994 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 130 1 0.76 100 44 30.56 - - - PCDHGB6 0 genome.wustl.edu 37 5 140790173 140790173 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 140790173 140790173 G C SNP PCDHGB6 ENST00000520790 human ensembl 69_37n +1 known missense c.2404 p.E802Q 0.195 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 148 0 0.00 104 24 18.75 - - - PDE8B 0 genome.wustl.edu 37 5 76700558 76700558 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 76700558 76700558 C T SNP PDE8B ENST00000264917 human ensembl 69_37n +1 known silent c.1224 p.F408 0.992 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,prints_PDEase,pfscan_PAS,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 146 0 0.00 77 20 20.62 - - - PDZD2 0 genome.wustl.edu 37 5 32000267 32000267 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 32000267 32000267 G A SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known missense c.1144 p.D382N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 59 0 0.00 103 26 20.16 - - - PEF1 0 genome.wustl.edu 37 1 32098889 32098889 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 32098889 32098889 C T SNP PEF1 ENST00000373703 human ensembl 69_37n -1 known missense c.352 p.E118K 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors PEF1 HGNC ENSG00000162517 24 0 0.00 30 18 37.50 - - - PELI2 0 genome.wustl.edu 37 14 56757079 56757079 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 56757079 56757079 G A SNP PELI2 ENST00000267460 human ensembl 69_37n +1 known missense c.601 p.E201K 0.978 pfam_Pellino pfam_Pellino - no_errors PELI2 HGNC ENSG00000139946 33 0 0.00 68 11 13.92 - - - PEX10 0 genome.wustl.edu 37 1 2340225 2340225 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 2340225 2340225 G A SNP PEX10 ENST00000288774 human ensembl 69_37n -1 known missense c.266 p.S89L 0.000 pfam_Pex_N pfam_Pex_N,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX10 HGNC ENSG00000157911 11 0 0.00 43 17 28.33 - - - PHACTR4 0 genome.wustl.edu 37 1 28800206 28800206 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 28800206 28800206 G A SNP PHACTR4 ENST00000373836 human ensembl 69_37n +1 known missense c.994 p.E332K 0.999 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 125 0 0.00 110 40 26.49 - - - PIAS2 0 genome.wustl.edu 37 18 44409752 44409752 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 18 44409752 44409752 C T SNP PIAS2 ENST00000585916 human ensembl 69_37n -1 known missense c.1281 p.M427I 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS2 HGNC ENSG00000078043 178 0 0.00 111 36 24.49 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 130 0 0.00 39 22 36.07 - - - PKHD1L1 0 genome.wustl.edu 37 8 110400725 110400725 + Splice_Site SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 110400725 110400725 G A SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known splice_site c.570-1 e7-1 1.000 - - - no_errors PKHD1L1 HGNC ENSG00000205038 97 0 0.00 71 11 13.41 - - - PLEKHA5 0 genome.wustl.edu 37 12 19467754 19467754 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 19467754 19467754 G C SNP PLEKHA5 ENST00000424268 human ensembl 69_37n +1 known missense c.1528 p.E510Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA5 HGNC ENSG00000052126 77 0 0.00 107 16 13.01 - - - PLEKHH2 0 genome.wustl.edu 37 2 43934621 43934621 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 43934621 43934621 C G SNP PLEKHH2 ENST00000282406 human ensembl 69_37n +1 known missense c.1903 p.R635G 0.998 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 65 0 0.00 83 15 15.31 - - - PLXNA4 0 genome.wustl.edu 37 7 132193072 132193072 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 132193072 132193072 C G SNP PLXNA4 ENST00000321063 human ensembl 69_37n -1 known silent c.381 p.L127 0.998 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag 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 22 0 0.00 49 10 16.95 - - - PMFBP1 0 genome.wustl.edu 37 16 72166725 72166725 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 72166725 72166725 C T SNP PMFBP1 ENST00000537465 human ensembl 69_37n -1 known missense c.1369 p.E457K 0.061 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 45 0 0.00 71 27 27.55 - - - PNLDC1 0 genome.wustl.edu 37 6 160240082 160240082 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 160240082 160240082 G C SNP PNLDC1 ENST00000275275 human ensembl 69_37n +1 known missense c.1329 p.Q443H 0.108 NULL pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 103 0 0.00 84 22 20.75 - - - POLR3A 0 genome.wustl.edu 37 10 79745020 79745020 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 79745020 79745020 C T SNP POLR3A ENST00000372371 human ensembl 69_37n -1 known silent c.3150 p.L1050 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 30 0 0.00 341 56 14.11 - - - POM121 0 genome.wustl.edu 37 7 72414040 72414040 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 72414040 72414040 G A SNP POM121 ENST00000434423 human ensembl 69_37n +1 known missense c.3508 p.E1170K 0.016 NULL NULL - no_errors POM121 HGNC ENSG00000196313 26 0 0.00 78 18 18.75 - - - PPRC1 0 genome.wustl.edu 37 10 103906618 103906618 + Missense_Mutation SNP A A G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 103906618 103906618 A G SNP PPRC1 ENST00000278070 human ensembl 69_37n +1 known missense c.3869 p.H1290R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 37 0 0.00 25 36 59.02 - - - PRDM14 0 genome.wustl.edu 37 8 70981480 70981480 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 70981480 70981480 G A SNP PRDM14 ENST00000276594 human ensembl 69_37n -1 known silent c.616 p.L206 0.980 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 33 0 0.00 115 18 13.53 - - - PRDM15 0 genome.wustl.edu 37 21 43222950 43222950 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 21 43222950 43222950 G A SNP PRDM15 ENST00000269844 human ensembl 69_37n -1 known silent c.3963 p.S1321 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 47 0 0.00 85 25 22.73 - - - PRMT2 0 genome.wustl.edu 37 21 48084230 48084230 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 21 48084230 48084230 C T SNP PRMT2 ENST00000451211 human ensembl 69_37n +1 known missense c.854 p.S285F 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 133 0 0.00 95 35 26.92 - - - PROSER1 0 genome.wustl.edu 37 13 39587532 39587532 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 13 39587532 39587532 G A SNP PROSER1 ENST00000350125 human ensembl 69_37n -1 known silent c.1791 p.F597 1.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 78 0 0.00 69 23 25.00 - - - PRRX1 0 genome.wustl.edu 37 1 170695469 170695469 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 170695469 170695469 G C SNP PRRX1 ENST00000239461 human ensembl 69_37n +1 known missense c.526 p.E176Q 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC ENSG00000116132 40 0 0.00 65 17 20.73 - - - PSG3 0 genome.wustl.edu 37 19 43233520 43233520 + Missense_Mutation SNP T T A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 43233520 43233520 T A SNP PSG3 ENST00000327495 human ensembl 69_37n -1 known missense c.998 p.D333V 0.294 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG3 HGNC ENSG00000221826 157 0 0.00 91 49 35.00 - - - PSMC6 0 genome.wustl.edu 37 14 53173920 53173920 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 53173920 53173920 G A SNP PSMC6 ENST00000445930 human ensembl 69_37n +1 known missense c.25 p.E9K 1.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC ENSG00000100519 12 0 0.00 33 8 19.51 - - - PSMD1 0 genome.wustl.edu 37 2 231940241 231940241 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 231940241 231940241 G C SNP PSMD1 ENST00000308696 human ensembl 69_37n +1 known missense c.898 p.E300Q 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 153 0 0.00 81 24 22.86 - - - PTH1R 0 genome.wustl.edu 37 3 46937242 46937242 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 46937242 46937242 G A SNP PTH1R ENST00000313049 human ensembl 69_37n +1 known missense c.196 p.D66N 0.974 pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 54 0 0.00 67 25 27.17 - - - PTOV1 0 genome.wustl.edu 37 19 50360970 50360970 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 50360970 50360970 C G SNP PTOV1 ENST00000391842 human ensembl 69_37n +1 known silent c.735 p.V245 0.003 NULL pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 38 0 0.00 91 17 15.74 - - - PTPLA 0 genome.wustl.edu 37 10 17645931 17645931 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 17645931 17645931 C G SNP PTPLA ENST00000361271 human ensembl 69_37n -1 known missense c.373 p.E125Q 1.000 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA - no_errors PTPLA HGNC ENSG00000165996 110 0 0.00 66 13 16.46 - - - PXDN 0 genome.wustl.edu 37 2 1653128 1653128 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 1653128 1653128 G A SNP PXDN ENST00000252804 human ensembl 69_37n -1 known silent c.2424 p.V808 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal 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 PXDN HGNC ENSG00000130508 14 0 0.00 50 14 21.88 - - - PXMP4 0 genome.wustl.edu 37 20 32295624 32295624 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 32295624 32295624 G A SNP PXMP4 ENST00000409299 human ensembl 69_37n -1 known missense c.527 p.S176F 0.829 pirsf_Pmp4 pirsf_Pmp4 - no_errors PXMP4 HGNC ENSG00000101417 52 0 0.00 62 22 26.19 - - - RAG1 0 genome.wustl.edu 37 11 36597333 36597333 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 36597333 36597333 G C SNP RAG1 ENST00000299440 human ensembl 69_37n +1 known missense c.2479 p.E827Q 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 30 0 0.00 25 10 28.57 - - - RAI2 0 genome.wustl.edu 37 X 17818567 17818567 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 17818567 17818567 G A SNP RAI2 ENST00000331511 human ensembl 69_37n -1 known missense c.1564 p.R522W 1.000 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 366 0 0.00 194 52 21.14 - - - RALYL 0 genome.wustl.edu 37 8 85799846 85799846 + Missense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 85799846 85799846 G T SNP RALYL ENST00000521268 human ensembl 69_37n +1 known missense c.693 p.Q231H 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 104 0 0.00 134 33 19.76 - - - RAPGEF6 0 genome.wustl.edu 37 5 130857085 130857085 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 130857085 130857085 G C SNP RAPGEF6 ENST00000509018 human ensembl 69_37n -1 known missense c.625 p.Q209E 1.000 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 74 0 0.00 38 15 28.30 - - - RASEF 0 genome.wustl.edu 37 9 85624562 85624562 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 9 85624562 85624562 G A SNP RASEF ENST00000376447 human ensembl 69_37n -1 known missense c.953 p.T318I 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 233 0 0.00 162 32 16.49 - - - RBMS1 0 genome.wustl.edu 37 2 161135089 161135089 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 161135089 161135089 C G SNP RBMS1 ENST00000392753 human ensembl 69_37n -1 known missense c.1071 p.M357I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 63 0 0.00 158 34 17.71 - - - RC3H2 0 genome.wustl.edu 37 9 125622277 125622277 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 9 125622277 125622277 G C SNP RC3H2 ENST00000357244 human ensembl 69_37n -1 known missense c.1768 p.P590A 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 154 0 0.00 121 31 20.39 - - - RFX6 0 genome.wustl.edu 37 6 117232129 117232129 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 117232129 117232129 C T SNP RFX6 ENST00000332958 human ensembl 69_37n +1 known missense c.704 p.S235L 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 195 0 0.00 119 21 15.00 - - - RGS4 0 genome.wustl.edu 37 1 163044339 163044339 + Nonsense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 163044339 163044339 C T SNP RGS4 ENST00000421743 human ensembl 69_37n +1 known nonsense c.898 p.Q300* 0.926 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS4 HGNC ENSG00000117152 76 0 0.00 87 15 14.71 - - - RGS8 0 genome.wustl.edu 37 1 182616022 182616022 + Missense_Mutation SNP T T A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 182616022 182616022 T A SNP RGS8 ENST00000258302 human ensembl 69_37n -1 known missense c.445 p.T149S 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS8 HGNC ENSG00000135824 143 0 0.00 186 35 15.77 - - - RLBP1 0 genome.wustl.edu 37 15 89762200 89762200 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 89762200 89762200 C T SNP RLBP1 ENST00000268125 human ensembl 69_37n -1 known missense c.7 p.E3K 0.999 NULL pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors RLBP1 HGNC ENSG00000140522 87 0 0.00 157 29 15.51 - - - RNF126P1 0 genome.wustl.edu 37 17 55123443 55123443 + RNA SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 55123443 55123443 C T SNP RNF126P1 ENST00000567452 human ensembl 69_37n +1 known rna NULL NULL 0.046 - - - no_errors RNF126P1 HGNC ENSG00000261192 88 0 0.00 111 34 23.45 - - - RNF169 0 genome.wustl.edu 37 11 74500681 74500681 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 74500681 74500681 C G SNP RNF169 ENST00000299563 human ensembl 69_37n +1 known missense c.513 p.F171L 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 236 0 0.00 107 12 10.08 - - - RPA1 0 genome.wustl.edu 37 17 1795220 1795220 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 1795220 1795220 G A SNP RPA1 ENST00000254719 human ensembl 69_37n +1 known missense c.1645 p.E549K 1.000 pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 167 0 0.00 71 21 22.83 - - - RPLP2 0 genome.wustl.edu 37 11 812762 812762 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 812762 812762 G C SNP RPLP2 ENST00000321153 human ensembl 69_37n +1 known missense c.274 p.E92Q 1.000 pfam_Ribosomal_60S pfam_Ribosomal_60S - no_errors RPLP2 HGNC ENSG00000177600 154 0 0.00 142 55 27.78 - - - RTBDN 0 genome.wustl.edu 37 19 12936703 12936703 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 12936703 12936703 G A SNP RTBDN ENST00000322912 human ensembl 69_37n -1 known silent c.603 p.H201 0.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors RTBDN HGNC ENSG00000132026 11 0 0.00 7 5 41.67 - - - RTL1 0 genome.wustl.edu 37 14 101349406 101349406 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 101349406 101349406 C T SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known missense c.1720 p.E574K 0.970 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 23 0 0.00 60 24 28.57 - - - RTTN 0 genome.wustl.edu 37 18 67833354 67833354 + Missense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 18 67833354 67833354 G T SNP RTTN ENST00000255674 human ensembl 69_37n -1 known missense c.1873 p.H625N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 61 0 0.00 52 18 25.35 - - - RYR2 0 genome.wustl.edu 37 1 237670043 237670043 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 237670043 237670043 G C SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.2641 p.E881Q 1.000 pfam_Ryanodine_rcpt,prints_Ryan_recept pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 217 0 0.00 212 52 19.70 - - - RYR3 0 genome.wustl.edu 37 15 33765740 33765740 + Splice_Site SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 33765740 33765740 G T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known splice_site c.171+1 e2+1 1.000 - - - no_errors RYR3 HGNC ENSG00000198838 21 0 0.00 28 27 49.09 - - - SAMD9 0 genome.wustl.edu 37 7 92732458 92732458 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 92732458 92732458 G A SNP SAMD9 ENST00000379958 human ensembl 69_37n -1 known missense c.2953 p.H985Y 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 200 0 0.00 168 42 20.00 - - - SCN10A 0 genome.wustl.edu 37 3 38755529 38755529 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 38755529 38755529 C T SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.3724 p.E1242K 0.505 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 50 0 0.00 49 19 27.94 - - - SCN3A 0 genome.wustl.edu 37 2 165946941 165946941 + Nonsense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 165946941 165946941 G A SNP SCN3A ENST00000283254 human ensembl 69_37n -1 known nonsense c.5722 p.Q1908* 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN3A HGNC ENSG00000153253 132 0 0.00 67 22 24.72 - - - SCN8A 0 genome.wustl.edu 37 12 52078046 52078046 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 52078046 52078046 G C SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known missense c.365 p.R122T 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 122 0 0.00 93 30 24.39 - - - SCPEP1 0 genome.wustl.edu 37 17 55065576 55065576 + Splice_Site SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 55065576 55065576 G C SNP SCPEP1 ENST00000262288 human ensembl 69_37n +1 known splice_site c.472-1 e5-1 1.000 - - - no_errors SCPEP1 HGNC ENSG00000121064 260 0 0.00 211 48 18.53 - - - SCYL3 0 genome.wustl.edu 37 1 169831924 169831924 + Nonsense_Mutation SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 169831924 169831924 C A SNP SCYL3 ENST00000367770 human ensembl 69_37n -1 known nonsense c.970 p.E324* 0.998 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom - no_errors SCYL3 HGNC ENSG00000000457 12 0 0.00 41 11 20.75 - - - SH3YL1 0 genome.wustl.edu 37 2 230038 230038 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 230038 230038 C G SNP SH3YL1 ENST00000356150 human ensembl 69_37n -1 known missense c.709 p.E237Q 0.975 NULL pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain - no_errors SH3YL1 HGNC ENSG00000035115 128 0 0.00 96 33 25.58 - - - SIGLEC1 0 genome.wustl.edu 37 20 3677446 3677446 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 3677446 3677446 G A SNP SIGLEC1 ENST00000344754 human ensembl 69_37n -1 known silent c.2470 p.L824 0.035 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 10 0 0.00 13 5 27.78 - - - SIGLEC7 0 genome.wustl.edu 37 19 51645628 51645630 + In_Frame_Del DEL TGC TGC - TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 51645628 51645630 TGC - DEL SIGLEC7 ENST00000317643 human ensembl 69_37n +1 known in_frame_del c.2_4 p.L5in_frame_del 0.564:0.611:0.635 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC7 HGNC ENSG00000168995 23 0 0.00 31 4 11.43 - - - SIRPB1 0 genome.wustl.edu 37 20 1559202 1559202 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 1559202 1559202 C G SNP SIRPB1 ENST00000381605 human ensembl 69_37n -1 known missense c.215 p.G72A 0.001 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPB1 HGNC ENSG00000101307 146 0 0.00 111 54 32.73 - - - SIRT2 0 genome.wustl.edu 37 19 39371529 39371529 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 39371529 39371529 C T SNP SIRT2 ENST00000249396 human ensembl 69_37n -1 known silent c.756 p.L252 0.440 pfam_NAD-dep_deAcase_sirtuin,pirsf_NAD-dep_deAcase_SIR2_euk,pfscan_NAD-dep_deAcase_sirtuin pfam_NAD-dep_deAcase_sirtuin,pirsf_NAD-dep_deAcase_SIR2_euk,pfscan_NAD-dep_deAcase_sirtuin - no_errors SIRT2 HGNC ENSG00000068903 12 0 0.00 32 7 17.95 - - - SLC16A12 0 genome.wustl.edu 37 10 91198588 91198588 + Silent SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 91198588 91198588 G C SNP SLC16A12 ENST00000371790 human ensembl 69_37n -1 known silent c.801 p.L267 0.009 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 91 0 0.00 68 22 24.44 - - - SLC28A2 0 genome.wustl.edu 37 15 45564978 45564978 + Nonsense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 45564978 45564978 C T SNP SLC28A2 ENST00000347644 human ensembl 69_37n +1 known nonsense c.1855 p.Q619* 1.000 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 42 0 0.00 25 5 16.67 - - - SLC2A13 0 genome.wustl.edu 37 12 40265720 40265720 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 40265720 40265720 C T SNP SLC2A13 ENST00000280871 human ensembl 69_37n -1 known missense c.1078 p.D360N 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 65 0 0.00 63 14 18.18 - - - SLC36A2 0 genome.wustl.edu 37 5 150696593 150696593 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 150696593 150696593 C T SNP SLC36A2 ENST00000335244 human ensembl 69_37n -1 known missense c.1237 p.V413M 0.954 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 44 0 0.00 66 15 18.52 - - - SLC39A7 0 genome.wustl.edu 37 6 33169325 33169325 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 33169325 33169325 C G SNP SLC39A7 ENST00000374675 human ensembl 69_37n +1 known silent c.303 p.L101 0.672 NULL pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 17 0 0.00 76 22 22.45 - - - SLC4A3 0 genome.wustl.edu 37 2 220501551 220501551 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 220501551 220501551 C T SNP SLC4A3 ENST00000273063 human ensembl 69_37n +1 known silent c.2571 p.L857 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 58 0 0.00 124 38 23.46 - - - SLX4 0 genome.wustl.edu 37 16 3633370 3633370 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 3633370 3633370 C G SNP SLX4 ENST00000294008 human ensembl 69_37n -1 known missense c.4881 p.Q1627H 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 50 0 0.00 158 35 18.04 - - - SMARCA4 0 genome.wustl.edu 37 19 11170495 11170495 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 11170495 11170495 G A SNP SMARCA4 ENST00000358026 human ensembl 69_37n +1 known missense c.4798 p.D1600N 1.000 superfamily_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 24 0 0.00 62 12 16.22 - - - SMG8 0 genome.wustl.edu 37 17 57290598 57290598 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 57290598 57290598 G C SNP SMG8 ENST00000300917 human ensembl 69_37n +1 known missense c.2414 p.R805T 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 121 0 0.00 114 51 30.91 - - - SNORD4A 0 genome.wustl.edu 37 17 27049656 27049656 + RNA SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 27049656 27049656 C T SNP SNORD4A ENST00000459174 human ensembl 69_37n +1 known rna NULL NULL 0.010 - - - no_errors SNORD4A HGNC ENSG00000238578 21 0 0.00 35 8 18.60 - - - SOX2 0 genome.wustl.edu 37 3 181430398 181430398 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 181430398 181430398 G A SNP SOX2 ENST00000325404 human ensembl 69_37n +1 known missense c.250 p.E84K 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX2 HGNC ENSG00000181449 18 0 0.00 28 10 26.32 - - - SPDYE4 0 genome.wustl.edu 37 17 8661642 8661642 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 8661642 8661642 G A SNP SPDYE4 ENST00000328794 human ensembl 69_37n -1 known missense c.59 p.T20M 0.001 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE4 HGNC ENSG00000183318 28 0 0.00 51 10 16.39 - - - SPG11 0 genome.wustl.edu 37 15 44900705 44900705 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 44900705 44900705 G A SNP SPG11 ENST00000559754 human ensembl 69_37n -1 putative missense c.119 p.S40F 0.970 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SPG11 HGNC ENSG00000104133 191 0 0.00 143 35 19.66 - - - SPTBN4 0 genome.wustl.edu 37 19 41029470 41029470 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 41029470 41029470 G A SNP SPTBN4 ENST00000352632 human ensembl 69_37n +1 known missense c.3781 p.A1261T 1.000 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 9 0 0.00 26 10 27.78 - - - SRCRB4D 0 genome.wustl.edu 37 7 76023178 76023178 + Silent SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 76023178 76023178 G C SNP SRCRB4D ENST00000275560 human ensembl 69_37n -1 known silent c.990 p.L330 0.001 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SRCRB4D HGNC ENSG00000146700 17 0 0.00 48 12 20.00 - - - STAG2 0 genome.wustl.edu 37 X 123182867 123182867 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 123182867 123182867 C G SNP STAG2 ENST00000218089 human ensembl 69_37n +1 known missense c.832 p.Q278E 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 286 1 0.35 205 60 22.64 - - - STK31 0 genome.wustl.edu 37 7 23766900 23766900 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 23766900 23766900 G A SNP STK31 ENST00000355870 human ensembl 69_37n +1 known missense c.290 p.R97K 1.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom - no_errors STK31 HGNC ENSG00000196335 294 0 0.00 264 50 15.87 - - - STOX1 0 genome.wustl.edu 37 10 70646331 70646331 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 70646331 70646331 G C SNP STOX1 ENST00000298596 human ensembl 69_37n +1 known missense c.2779 p.E927Q 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 24 0 0.00 24 10 29.41 - - - STXBP5 0 genome.wustl.edu 37 6 147660341 147660341 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 147660341 147660341 G A SNP STXBP5 ENST00000321680 human ensembl 69_37n +1 known missense c.2173 p.D725N 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 268 1 0.37 149 32 17.68 - - - SUGP2 0 genome.wustl.edu 37 19 19136939 19136939 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 19136939 19136939 C G SNP SUGP2 ENST00000337018 human ensembl 69_37n -1 known missense c.218 p.R73T 0.021 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 19 0 0.00 60 13 17.81 - - - SULF2 0 genome.wustl.edu 37 20 46365493 46365493 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 20 46365493 46365493 C T SNP SULF2 ENST00000359930 human ensembl 69_37n -1 known silent c.369 p.E123 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 65 0 0.00 151 44 22.56 - - - SUOX 0 genome.wustl.edu 37 12 56397621 56397621 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 12 56397621 56397621 G A SNP SUOX ENST00000266971 human ensembl 69_37n +1 known missense c.448 p.E150K 1.000 pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Cyt_B5 pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5 - no_errors SUOX HGNC ENSG00000139531 57 0 0.00 92 17 15.60 - - - SYNE2 0 genome.wustl.edu 37 14 64669652 64669652 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 14 64669652 64669652 G A SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.18172 p.E6058K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 81 0 0.00 110 24 17.91 - - - SYT11 0 genome.wustl.edu 37 1 155838071 155838071 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 155838071 155838071 C G SNP SYT11 ENST00000368324 human ensembl 69_37n +1 known missense c.350 p.S117C 0.766 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 34 0 0.00 54 8 12.90 - - - TAAR2 0 genome.wustl.edu 37 6 132938838 132938838 + Silent SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 6 132938838 132938838 C A SNP TAAR2 ENST00000367931 human ensembl 69_37n -1 known silent c.507 p.S169 0.003 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_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR2 HGNC ENSG00000146378 84 0 0.00 45 13 22.41 - - - TAF13 0 genome.wustl.edu 37 1 109607256 109607256 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 109607256 109607256 G A SNP TAF13 ENST00000338366 human ensembl 69_37n -1 known silent c.264 p.F88 1.000 pfam_TFIID-18 pfam_TFIID-18,superfamily_Histone-fold - no_errors TAF13 HGNC ENSG00000197780 280 0 0.00 144 65 31.10 - - - TANC2 0 genome.wustl.edu 37 17 61490920 61490920 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 61490920 61490920 G A SNP TANC2 ENST00000583356 human ensembl 69_37n +1 putative missense c.3479 p.R1160Q 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TANC2 HGNC ENSG00000170921 48 0 0.00 93 23 19.66 - - - TAS2R16 0 genome.wustl.edu 37 7 122635653 122635653 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 122635653 122635653 G A SNP TAS2R16 ENST00000249284 human ensembl 69_37n -1 known silent c.36 p.I12 0.006 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 31 0 0.00 21 9 29.03 - - - TBC1D16 0 genome.wustl.edu 37 17 77921632 77921632 + Splice_Site SNP T T A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 17 77921632 77921632 T A SNP TBC1D16 ENST00000310924 human ensembl 69_37n -1 known splice_site c.1542-2 e8-2 1.000 - - - no_errors TBC1D16 HGNC ENSG00000167291 9 0 0.00 22 10 31.25 - - - TBRG1 0 genome.wustl.edu 37 11 124495579 124495579 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 124495579 124495579 G A SNP TBRG1 ENST00000441174 human ensembl 69_37n +1 known silent c.234 p.K78 1.000 NULL pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC ENSG00000154144 40 0 0.00 30 11 26.83 - - - TDGF1 0 genome.wustl.edu 37 3 46620626 46620626 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 46620626 46620626 G A SNP TDGF1 ENST00000296145 human ensembl 69_37n +1 known missense c.77 p.G26E 0.916 pirsf_Cripto_growth_factor pfam_Cryptic/Cripto_CFC-dom,pirsf_Cripto_growth_factor,pfscan_EG-like_dom - no_errors TDGF1 HGNC ENSG00000241186 345 0 0.00 226 64 21.99 - - - TECRL 0 genome.wustl.edu 37 4 65175565 65175565 + Silent SNP T T C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 4 65175565 65175565 T C SNP TECRL ENST00000381210 human ensembl 69_37n -1 known silent c.636 p.T212 0.999 pfam_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 172 0 0.00 70 32 31.37 - - - TERT 0 genome.wustl.edu 37 5 1260685 1260685 + Silent SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 1260685 1260685 G C SNP TERT ENST00000310581 human ensembl 69_37n -1 known silent c.2874 p.L958 0.941 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,prints_Telomerase_RT,pfscan_RVT - no_errors TERT HGNC ENSG00000164362 26 0 0.00 56 15 21.13 - - - THSD7A 0 genome.wustl.edu 37 7 11676319 11676319 + Nonsense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 11676319 11676319 G A SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known nonsense c.460 p.Q154* 1.000 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 141 0 0.00 186 35 15.77 - - - TMC5 0 genome.wustl.edu 37 16 19468194 19468194 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 19468194 19468194 C G SNP TMC5 ENST00000219821 human ensembl 69_37n +1 known missense c.166 p.Q56E 0.011 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 87 0 0.00 146 82 35.65 - - - TMC5 0 genome.wustl.edu 37 16 19468321 19468321 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 19468321 19468321 C T SNP TMC5 ENST00000219821 human ensembl 69_37n +1 known missense c.293 p.S98L 0.085 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 70 0 0.00 118 50 29.76 - - - TOX 0 genome.wustl.edu 37 8 59750744 59750744 + Missense_Mutation SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 8 59750744 59750744 C A SNP TOX ENST00000361421 human ensembl 69_37n -1 known missense c.820 p.D274Y 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX HGNC ENSG00000198846 104 0 0.00 78 43 35.54 - - - TP53BP1 0 genome.wustl.edu 37 15 43700247 43700247 + Silent SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 43700247 43700247 G C SNP TP53BP1 ENST00000382044 human ensembl 69_37n -1 known silent c.5640 p.L1880 0.931 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 32 0 0.00 35 9 20.45 - - - TPK1 0 genome.wustl.edu 37 7 144320315 144320315 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 144320315 144320315 C T SNP TPK1 ENST00000360057 human ensembl 69_37n -1 known missense c.298 p.D100N 1.000 pfam_TPK_catalytic,superfamily_TPK_catalytic,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase - no_errors TPK1 HGNC ENSG00000196511 349 0 0.00 253 54 17.59 - - - TPR 0 genome.wustl.edu 37 1 186283810 186283810 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 186283810 186283810 C G SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.6987 p.Q2329H 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 209 0 0.00 209 44 17.39 - - - TPR 0 genome.wustl.edu 37 1 186316447 186316447 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 186316447 186316447 C T SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.2920 p.E974K 1.000 superfamily_Prefoldin pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 373 0 0.00 347 71 16.95 - - - TPTE 0 genome.wustl.edu 37 21 10941954 10941954 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 21 10941954 10941954 G A SNP TPTE ENST00000361285 human ensembl 69_37n -1 known missense c.749 p.S250L 1.000 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 338 0 0.00 195 28 12.56 - - - TRAF3IP3 0 genome.wustl.edu 37 1 209953885 209953885 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 209953885 209953885 G A SNP TRAF3IP3 ENST00000367024 human ensembl 69_37n +1 known silent c.1383 p.E461 0.976 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 61 0 0.00 76 16 17.39 - - - TRAPPC12 0 genome.wustl.edu 37 2 3483128 3483128 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 3483128 3483128 G A SNP TRAPPC12 ENST00000324266 human ensembl 69_37n +1 known missense c.2104 p.E702K 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 8 0 0.00 27 8 22.86 - - - TRIM13 0 genome.wustl.edu 37 13 50587226 50587226 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 13 50587226 50587226 G A SNP TRIM13 ENST00000298772 human ensembl 69_37n +1 known missense c.1159 p.E387K 0.996 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM13 HGNC ENSG00000204977 203 0 0.00 75 21 21.88 - - - TRIM51 0 genome.wustl.edu 37 11 55657466 55657466 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 55657466 55657466 C T SNP TRIM51 ENST00000449290 human ensembl 69_37n +1 known silent c.810 p.L270 0.081 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 146 0 0.00 75 62 45.26 - - - TRPC3 0 genome.wustl.edu 37 4 122825623 122825623 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 4 122825623 122825623 C T SNP TRPC3 ENST00000379645 human ensembl 69_37n -1 known missense c.2107 p.E703K 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 159 1 0.62 75 21 21.88 - - - TRRAP 0 genome.wustl.edu 37 7 98529178 98529178 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 98529178 98529178 G C SNP TRRAP ENST00000359863 human ensembl 69_37n +1 known missense c.3742 p.E1248Q 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 17 0 0.00 54 9 14.29 - - - TSSC4 0 genome.wustl.edu 37 11 2424787 2424787 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 11 2424787 2424787 G C SNP TSSC4 ENST00000333256 human ensembl 69_37n +1 known missense c.924 p.R308S 1.000 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 13 0 0.00 32 12 27.27 - - - TTC23 0 genome.wustl.edu 37 15 99715275 99715275 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 99715275 99715275 G A SNP TTC23 ENST00000262074 human ensembl 69_37n -1 known missense c.845 p.S282L 0.536 NULL smart_TPR_repeat - no_errors TTC23 HGNC ENSG00000103852 19 0 0.00 37 13 26.00 - - - TTN 0 genome.wustl.edu 37 2 179452019 179452019 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 179452019 179452019 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.56215 p.E18739K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 87 0 0.00 81 15 15.62 - - - TUBA3C 0 genome.wustl.edu 37 13 19751442 19751442 + Silent SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 13 19751442 19751442 G T SNP TUBA3C ENST00000400113 human ensembl 69_37n -1 known silent c.681 p.L227 0.996 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 125 0 0.00 152 64 29.63 - - - TUBA3C 0 genome.wustl.edu 37 13 19751650 19751650 + Nonsense_Mutation SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 13 19751650 19751650 G T SNP TUBA3C ENST00000400113 human ensembl 69_37n -1 known nonsense c.473 p.S158* 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 85 0 0.00 95 33 25.78 - - - UBLCP1 0 genome.wustl.edu 37 5 158697440 158697440 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 5 158697440 158697440 G A SNP UBLCP1 ENST00000296786 human ensembl 69_37n +1 known missense c.319 p.E107K 1.000 NULL pfam_NIF,pfam_Ubiquitin,superfamily_HAD-like_dom,smart_Ubiquitin,smart_NIF,pfscan_NIF,pfscan_Ubiquitin_supergroup,tigrfam_HAD-SF_hydro_IIID - no_errors UBLCP1 HGNC ENSG00000164332 291 0 0.00 134 31 18.79 - - - UPRT 0 genome.wustl.edu 37 X 74517354 74517354 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 74517354 74517354 G A SNP UPRT ENST00000373383 human ensembl 69_37n +1 known silent c.528 p.E176 1.000 NULL pfam_PRibTrfase - no_errors UPRT HGNC ENSG00000094841 448 0 0.00 294 75 20.33 - - - VCL 0 genome.wustl.edu 37 10 75832608 75832608 + Nonsense_Mutation SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 75832608 75832608 C A SNP VCL ENST00000211998 human ensembl 69_37n +1 known nonsense c.620 p.S207* 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 99 0 0.00 69 28 28.87 - - - WAC 0 genome.wustl.edu 37 10 28908478 28908478 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 10 28908478 28908478 G C SNP WAC ENST00000354911 human ensembl 69_37n +1 known missense c.1887 p.L629F 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WAC HGNC ENSG00000095787 113 0 0.00 57 19 25.00 - - - WHSC1 0 genome.wustl.edu 37 4 1976719 1976719 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 4 1976719 1976719 G A SNP WHSC1 ENST00000382891 human ensembl 69_37n +1 known missense c.3502 p.D1168N 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 35 0 0.00 70 17 19.54 - - - XIRP2 0 genome.wustl.edu 37 2 168102468 168102468 + Silent SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 168102468 168102468 C G SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known silent c.4566 p.V1522 0.967 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 63 0 0.00 16 5 22.73 - - - XIRP2 0 genome.wustl.edu 37 2 168105425 168105425 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 168105425 168105425 C T SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.7523 p.S2508L 0.008 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 91 0 0.00 49 9 15.52 - - - XPO1 0 genome.wustl.edu 37 2 61715794 61715794 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 61715794 61715794 C T SNP XPO1 ENST00000401558 human ensembl 69_37n -1 known missense c.2135 p.R712K 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 107 0 0.00 91 25 21.55 - - - ZAN 0 genome.wustl.edu 37 7 100363041 100363041 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 7 100363041 100363041 C T SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.4334 p.S1445L 0.000 pfam_TIL_dom,superfamily_TIL_dom,smart_EGF-like pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 13 0 0.00 81 20 19.80 - - - ZBED4 0 genome.wustl.edu 37 22 50279480 50279480 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 22 50279480 50279480 G A SNP ZBED4 ENST00000216268 human ensembl 69_37n +1 known missense c.2170 p.E724K 1.000 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 43 0 0.00 50 10 16.67 - - - ZBTB5 0 genome.wustl.edu 37 9 37441978 37441978 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 9 37441978 37441978 G A SNP ZBTB5 ENST00000307750 human ensembl 69_37n -1 known missense c.571 p.H191Y 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 13 0 0.00 17 4 19.05 - - - ZC3H7B 0 genome.wustl.edu 37 22 41752441 41752441 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 22 41752441 41752441 G A SNP ZC3H7B ENST00000351589 human ensembl 69_37n +1 known silent c.2478 p.E826 1.000 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 31 0 0.00 24 10 29.41 - - - ZCCHC11 0 genome.wustl.edu 37 1 52991817 52991817 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 1 52991817 52991817 C T SNP ZCCHC11 ENST00000257177 human ensembl 69_37n -1 known missense c.136 p.E46K 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 123 0 0.00 48 13 21.31 - - - ZCWPW2 0 genome.wustl.edu 37 3 28562576 28562576 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 3 28562576 28562576 G A SNP ZCWPW2 ENST00000383768 human ensembl 69_37n +1 known missense c.878 p.G293E 0.000 NULL pfam_Znf_CW,pfam_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 194 0 0.00 78 27 25.47 - - - ZFP36L2 0 genome.wustl.edu 37 2 43453450 43453450 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 43453450 43453450 G C SNP ZFP36L2 ENST00000282388 human ensembl 69_37n -1 known missense c.5 p.S2W 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 14 0 0.00 36 14 28.00 - - - ZFYVE19 0 genome.wustl.edu 37 15 41099931 41099931 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 15 41099931 41099931 G C SNP ZFYVE19 ENST00000568062 human ensembl 69_37n +1 known missense c.92 p.G31A 0.096 NULL superfamily_Znf_FYVE_PHD - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZFYVE19 HGNC ENSG00000166140 12 0 0.00 38 11 22.00 - - - ZNF181 0 genome.wustl.edu 37 19 35232425 35232425 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 35232425 35232425 G C SNP ZNF181 ENST00000492450 human ensembl 69_37n +1 known missense c.1139 p.R380T 0.142 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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF181 HGNC ENSG00000197841 108 0 0.00 69 16 18.82 - - - ZNF267 0 genome.wustl.edu 37 16 31926785 31926785 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 31926785 31926785 G C SNP ZNF267 ENST00000300870 human ensembl 69_37n +1 known missense c.1215 p.E405D 1.000 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 ZNF267 HGNC ENSG00000185947 75 0 0.00 83 46 35.66 - - - ZNF267 0 genome.wustl.edu 37 16 31926979 31926979 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 31926979 31926979 G A SNP ZNF267 ENST00000300870 human ensembl 69_37n +1 known missense c.1409 p.S470N 0.956 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 ZNF267 HGNC ENSG00000185947 122 0 0.00 79 44 35.48 - - - ZNF28 0 genome.wustl.edu 37 19 53304398 53304398 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 53304398 53304398 G C SNP ZNF28 ENST00000457749 human ensembl 69_37n -1 known missense c.700 p.Q234E 0.199 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 ZNF28 HGNC ENSG00000198538 259 0 0.00 168 37 18.05 - - - ZNF324 0 genome.wustl.edu 37 19 58980584 58980584 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 58980584 58980584 C T SNP ZNF324 ENST00000196482 human ensembl 69_37n +1 known missense c.32 p.S11F 0.998 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF324 HGNC ENSG00000083812 70 0 0.00 88 27 23.48 - - - ZNF431 0 genome.wustl.edu 37 19 21365597 21365597 + Missense_Mutation SNP T T A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 21365597 21365597 T A SNP ZNF431 ENST00000311048 human ensembl 69_37n +1 known missense c.491 p.L164Q 0.000 NULL 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 ZNF431 HGNC ENSG00000196705 227 0 0.00 127 30 19.11 - - - ZNF470 0 genome.wustl.edu 37 19 57088676 57088676 + Missense_Mutation SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 57088676 57088676 C A SNP ZNF470 ENST00000330619 human ensembl 69_37n +1 known missense c.879 p.F293L 0.997 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 ZNF470 HGNC ENSG00000197016 104 0 0.00 95 14 12.84 - - - ZNF470 0 genome.wustl.edu 37 19 57088944 57088944 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 57088944 57088944 C G SNP ZNF470 ENST00000330619 human ensembl 69_37n +1 known missense c.1147 p.L383V 0.569 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 ZNF470 HGNC ENSG00000197016 130 0 0.00 120 24 16.67 - - - ZNF528 0 genome.wustl.edu 37 19 52919501 52919501 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 52919501 52919501 G A SNP ZNF528 ENST00000360465 human ensembl 69_37n +1 known missense c.1396 p.E466K 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 ZNF528 HGNC ENSG00000167555 66 0 0.00 51 9 15.00 - - - ZNF585B 0 genome.wustl.edu 37 19 37677367 37677367 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 37677367 37677367 C T SNP ZNF585B ENST00000532828 human ensembl 69_37n -1 known missense c.1072 p.E358K 0.002 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 ZNF585B HGNC ENSG00000245680 215 0 0.00 137 43 23.89 - - - ZNF75D 0 genome.wustl.edu 37 X 134427833 134427833 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b X 134427833 134427833 C T SNP ZNF75D ENST00000370766 human ensembl 69_37n -1 known silent c.234 p.L78 0.028 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 72 0 0.00 64 17 20.99 - - - ZNF776 0 genome.wustl.edu 37 19 58265613 58265613 + Missense_Mutation SNP G G C TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 19 58265613 58265613 G C SNP ZNF776 ENST00000317178 human ensembl 69_37n +1 known missense c.1115 p.G372A 1.000 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 ZNF776 HGNC ENSG00000152443 157 0 0.00 163 39 19.31 - - - ZP2 0 genome.wustl.edu 37 16 21213434 21213434 + Silent SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 16 21213434 21213434 C T SNP ZP2 ENST00000219593 human ensembl 69_37n -1 known silent c.1278 p.T426 0.360 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP2 HGNC ENSG00000103310 64 0 0.00 78 59 43.07 - - - ZRANB3 0 genome.wustl.edu 37 2 135957946 135957946 + Missense_Mutation SNP C C A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2750ed41-0bd4-4cf4-98f5-762957cf80b7 92567dce-0f9e-4885-8260-0196fef7a91b 2 135957946 135957946 C A SNP ZRANB3 ENST00000264159 human ensembl 69_37n -1 known missense c.3206 p.G1069V 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 312 0 0.00 226 64 21.99 - - -