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 ACTN3 0 genome.wustl.edu 37 11 66318583 66318583 + Silent SNP T T A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 11 66318583 66318583 T A SNP ACTN3 ENST00000511191 human ensembl 69_37n +1 known silent c.207 p.A69 0.001 NULL NULL - no_errors ACTN3 HGNC ENSG00000248746 38 0 0.00 18 3 14.29 - - - ATP6V1C2 0 genome.wustl.edu 37 2 10915114 10915114 + Missense_Mutation SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 2 10915114 10915114 C T SNP ATP6V1C2 ENST00000272238 human ensembl 69_37n +1 known missense c.742 p.R248C 0.992 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 27 0 0.00 44 8 15.38 - - - BAP1 0 genome.wustl.edu 37 3 52442072 52442072 + Missense_Mutation SNP T T C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 3 52442072 52442072 T C SNP BAP1 ENST00000460680 human ensembl 69_37n -1 known missense c.277 p.T93A 1.000 pfam_Peptidase_C12,prints_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 36 0 0.00 16 14 46.67 - - - BRWD1 0 genome.wustl.edu 37 21 40571052 40571052 + Missense_Mutation SNP C C G TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 21 40571052 40571052 C G SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known missense c.5290 p.D1764H 0.977 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 42 0 0.00 44 7 13.73 - - - C8orf58 0 genome.wustl.edu 37 8 22459837 22459837 + Missense_Mutation SNP G G T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 8 22459837 22459837 G T SNP C8orf58 ENST00000495957 human ensembl 69_37n +1 putative missense c.203 p.G68V 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C8orf58 HGNC ENSG00000241852 29 0 0.00 15 7 31.82 - - - CASZ1 0 genome.wustl.edu 37 1 10707860 10707862 + In_Frame_Del DEL CTC CTC - TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 1 10707860 10707862 CTC - DEL CASZ1 ENST00000377022 human ensembl 69_37n -1 known in_frame_del c.3495_3493 p.E1165in_frame_del 1.000:1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 74 0 0.00 24 4 14.29 - - - CCDC60 0 genome.wustl.edu 37 12 119772957 119772957 + RNA SNP G G C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 12 119772957 119772957 G C SNP CCDC60 ENST00000546345 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CCDC60 HGNC ENSG00000183273 40 0 0.00 27 6 18.18 - - - CNTNAP2 0 genome.wustl.edu 37 7 147914614 147914614 + Missense_Mutation SNP C C A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 7 147914614 147914614 C A SNP CNTNAP2 ENST00000361727 human ensembl 69_37n +1 known missense c.3245 p.T1082N 0.063 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 19 0 0.00 18 5 21.74 - - - CPEB2 0 genome.wustl.edu 37 4 15009075 15009075 + Silent SNP G G A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 4 15009075 15009075 G A SNP CPEB2 ENST00000538197 human ensembl 69_37n +1 known silent c.1809 p.L603 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 35 0 0.00 20 8 28.57 - - - CRAT 0 genome.wustl.edu 37 9 131864751 131864751 + Silent SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 9 131864751 131864751 C T SNP CRAT ENST00000318080 human ensembl 69_37n -1 known silent c.558 p.K186 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 108 0 0.00 73 21 22.34 - - - CSN3 0 genome.wustl.edu 37 4 71110590 71110590 + Missense_Mutation SNP G G T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 4 71110590 71110590 G T SNP CSN3 ENST00000304954 human ensembl 69_37n +1 known missense c.54 p.L18F 1.000 pfam_Casein_kappa,pirsf_Casein_kappa pfam_Casein_kappa,pirsf_Casein_kappa - no_errors CSN3 HGNC ENSG00000171209 29 0 0.00 28 4 12.50 - - - CXorf23 0 genome.wustl.edu 37 X 19984272 19984272 + Silent SNP T T A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 X 19984272 19984272 T A SNP CXorf23 ENST00000379687 human ensembl 69_37n -1 known silent c.537 p.I179 0.854 NULL NULL - no_errors CXorf23 HGNC ENSG00000173681 60 0 0.00 86 14 14.00 - - - DKC1 0 genome.wustl.edu 37 X 154005112 154005112 + Silent SNP A A G TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 X 154005112 154005112 A G SNP DKC1 ENST00000369550 human ensembl 69_37n +1 known silent c.1515 p.K505 0.963 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 35 0 0.00 34 7 17.07 - - - DNA2 0 genome.wustl.edu 37 10 70190369 70190369 + Missense_Mutation SNP T T C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 10 70190369 70190369 T C SNP DNA2 ENST00000399180 human ensembl 69_37n -1 known missense c.2290 p.T764A 1.000 NULL pfam_DNA_replication_fac_Dna2 - no_errors DNA2 HGNC ENSG00000138346 42 0 0.00 34 12 26.09 - - - DNAH14 0 genome.wustl.edu 37 1 225332281 225332281 + Missense_Mutation SNP C C A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 1 225332281 225332281 C A SNP DNAH14 ENST00000430092 human ensembl 69_37n +1 known missense c.4640 p.A1547D 0.969 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 47 0 0.00 46 8 14.81 - - - DPF2 0 genome.wustl.edu 37 11 65107855 65107855 + Splice_Site SNP G G T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 11 65107855 65107855 G T SNP DPF2 ENST00000528416 human ensembl 69_37n +1 known splice_site c.33-1 e2-1 1.000 - - - no_errors DPF2 HGNC ENSG00000133884 25 0 0.00 18 6 25.00 - - - DUSP4 0 genome.wustl.edu 37 8 29195879 29195879 + Missense_Mutation SNP T T A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 8 29195879 29195879 T A SNP DUSP4 ENST00000240100 human ensembl 69_37n -1 known missense c.719 p.Y240F 0.999 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 55 0 0.00 45 7 13.46 - - - EEA1 0 genome.wustl.edu 37 12 93245024 93245024 + Missense_Mutation SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 12 93245024 93245024 C T SNP EEA1 ENST00000322349 human ensembl 69_37n -1 known missense c.661 p.E221K 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 55 0 0.00 43 31 41.89 - - - GDE1 0 genome.wustl.edu 37 16 19516399 19516399 + Missense_Mutation SNP G G C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 16 19516399 19516399 G C SNP GDE1 ENST00000353258 human ensembl 69_37n -1 known missense c.652 p.R218G 0.995 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDE1 HGNC ENSG00000006007 42 0 0.00 33 8 19.51 - - - GLTSCR1 0 genome.wustl.edu 37 19 48204725 48204725 + Frame_Shift_Del DEL C C - TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 19 48204725 48204725 C - DEL GLTSCR1 ENST00000396720 human ensembl 69_37n +1 known frame_shift_del c.3736 p.V1247fs 1.000 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 8 0 0.00 4 2 33.33 - - - GOLGA8DP 0 genome.wustl.edu 37 15 22709918 22709918 + RNA SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 15 22709918 22709918 C T SNP GOLGA8DP ENST00000314246 human ensembl 69_37n -1 known rna NULL NULL 0.015 - - - no_errors GOLGA8DP HGNC ENSG00000185182 77 0 0.00 82 24 22.64 - - - GTF2A1 0 genome.wustl.edu 37 14 81651922 81651922 + Missense_Mutation SNP G G C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 14 81651922 81651922 G C SNP GTF2A1 ENST00000553612 human ensembl 69_37n -1 known missense c.976 p.Q326E 1.000 pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx - no_errors GTF2A1 HGNC ENSG00000165417 46 0 0.00 34 13 27.66 - - - H3F3A 0 genome.wustl.edu 37 1 226252077 226252077 + Missense_Mutation SNP C C G TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 1 226252077 226252077 C G SNP H3F3A ENST00000366813 human ensembl 69_37n +1 known missense c.25 p.R9G 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3A HGNC ENSG00000163041 78 0 0.00 79 12 13.19 - - - HEG1 0 genome.wustl.edu 37 3 124731767 124731767 + Missense_Mutation SNP G G C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 3 124731767 124731767 G C SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known missense c.2656 p.P886A 0.860 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 78 0 0.00 99 22 18.18 - - - HHLA1 0 genome.wustl.edu 37 8 133111199 133111199 + Silent SNP T T A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 8 133111199 133111199 T A SNP HHLA1 ENST00000414222 human ensembl 69_37n -1 known silent c.210 p.A70 0.023 NULL NULL - no_errors HHLA1 HGNC ENSG00000132297 34 0 0.00 32 8 20.00 - - - IQSEC1 0 genome.wustl.edu 37 3 12977712 12977712 + Missense_Mutation SNP C C A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 3 12977712 12977712 C A SNP IQSEC1 ENST00000273221 human ensembl 69_37n -1 known missense c.846 p.Q282H 0.009 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC1 HGNC ENSG00000144711 84 0 0.00 59 17 22.37 - - - KDM8 0 genome.wustl.edu 37 16 27222495 27222495 + RNA SNP G G C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 16 27222495 27222495 G C SNP KDM8 ENST00000562269 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors KDM8 HGNC ENSG00000155666 25 0 0.00 24 5 17.24 - - - LCT 0 genome.wustl.edu 37 2 136567102 136567102 + Missense_Mutation SNP G G T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 2 136567102 136567102 G T SNP LCT ENST00000264162 human ensembl 69_37n -1 known missense c.2815 p.P939T 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 51 0 0.00 33 8 19.51 - - - LPAL2 0 genome.wustl.edu 37 6 160898283 160898283 + RNA SNP G G T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 6 160898283 160898283 G T SNP LPAL2 ENST00000335388 human ensembl 69_37n -1 known rna NULL NULL 0.493 - - - no_errors LPAL2 HGNC ENSG00000213071 149 0 0.00 169 23 11.98 - - - MAGEA11 0 genome.wustl.edu 37 X 148797955 148797955 + Missense_Mutation SNP G G A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 X 148797955 148797955 G A SNP MAGEA11 ENST00000355220 human ensembl 69_37n +1 known missense c.809 p.C270Y 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 60 0 0.00 68 20 22.73 - - - MEGF8 0 genome.wustl.edu 37 19 42853696 42853696 + Missense_Mutation SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 19 42853696 42853696 C T SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known missense c.2344 p.R782W 0.780 NULL pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 74 0 0.00 49 23 31.94 - - - MIR3612 0 genome.wustl.edu 37 12 128778703 128778703 + RNA SNP G G A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 12 128778703 128778703 G A SNP MIR3612 ENST00000579753 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MIR3612 HGNC ENSG00000265635 14 0 0.00 8 5 38.46 - - - MYSM1 0 genome.wustl.edu 37 1 59127079 59127079 + Missense_Mutation SNP T T C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 1 59127079 59127079 T C SNP MYSM1 ENST00000472487 human ensembl 69_37n -1 known missense c.2269 p.S757G 0.988 NULL pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 23 0 0.00 31 9 22.50 - - - NFE2L3 0 genome.wustl.edu 37 7 26224313 26224313 + Missense_Mutation SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 7 26224313 26224313 C T SNP NFE2L3 ENST00000056233 human ensembl 69_37n +1 known missense c.995 p.T332I 0.000 NULL pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 30 0 0.00 40 7 14.89 - - - NFE2L3 0 genome.wustl.edu 37 7 26224323 26224323 + Silent SNP T T C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 7 26224323 26224323 T C SNP NFE2L3 ENST00000056233 human ensembl 69_37n +1 known silent c.1005 p.T335 0.002 NULL pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 30 0 0.00 35 7 16.67 - - - NUP188 0 genome.wustl.edu 37 9 131733098 131733098 + Missense_Mutation SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 9 131733098 131733098 C T SNP NUP188 ENST00000372577 human ensembl 69_37n +1 known missense c.974 p.A325V 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 75 0 0.00 48 39 44.83 - - - NUP210L 0 genome.wustl.edu 37 1 154062034 154062034 + Missense_Mutation SNP G G C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 1 154062034 154062034 G C SNP NUP210L ENST00000368559 human ensembl 69_37n -1 known missense c.2224 p.L742V 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 23 0 0.00 30 6 16.67 - - - NUPL1 0 genome.wustl.edu 37 13 25875893 25875893 + RNA SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 13 25875893 25875893 C T SNP NUPL1 ENST00000495460 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors NUPL1 HGNC ENSG00000139496 65 0 0.00 43 20 31.75 - - - PGS1 0 genome.wustl.edu 37 17 76392449 76392449 + Missense_Mutation SNP C C G TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 17 76392449 76392449 C G SNP PGS1 ENST00000262764 human ensembl 69_37n +1 known missense c.394 p.P132A 1.000 pirsf_PLipase-D_PtdSer-synthase-type pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase - no_errors PGS1 HGNC ENSG00000087157 16 0 0.00 21 7 25.00 - - - POM121L2 0 genome.wustl.edu 37 6 27277899 27277899 + Missense_Mutation SNP A A T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 6 27277899 27277899 A T SNP POM121L2 ENST00000444565 human ensembl 69_37n -1 known missense c.2051 p.I684N 0.000 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 40 0 0.00 62 12 16.22 - - - PPT2 0 genome.wustl.edu 37 6 32123479 32123479 + Missense_Mutation SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 6 32123479 32123479 C T SNP PPT2 ENST00000361568 human ensembl 69_37n +1 known missense c.370 p.R124W 1.000 pfam_Palm_thioest,prints_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT2 HGNC ENSG00000221988 63 0 0.00 45 17 27.42 - - - PSG8 0 genome.wustl.edu 37 19 43262237 43262237 + Frame_Shift_Del DEL T T - TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 19 43262237 43262237 T - DEL PSG8 ENST00000306511 human ensembl 69_37n -1 known frame_shift_del c.626 p.K209fs 0.040 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG8 HGNC ENSG00000124467 173 0 0.00 130 28 17.72 - - - PSMA5 0 genome.wustl.edu 37 1 109952635 109952635 + Missense_Mutation SNP G G T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 1 109952635 109952635 G T SNP PSMA5 ENST00000271308 human ensembl 69_37n -1 known missense c.563 p.S188Y 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA5 HGNC ENSG00000143106 37 0 0.00 33 4 10.81 - - - SCN7A 0 genome.wustl.edu 37 2 167301344 167301344 + Silent SNP G G A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 2 167301344 167301344 G A SNP SCN7A ENST00000409855 human ensembl 69_37n -1 known silent c.1554 p.N518 0.660 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 21 0 0.00 21 6 21.43 - - - SEC14L6 0 genome.wustl.edu 37 22 30930019 30930019 + Missense_Mutation SNP G G T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 22 30930019 30930019 G T SNP SEC14L6 ENST00000402034 human ensembl 69_37n -1 novel missense c.138 p.S46R 0.157 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L6 HGNC ENSG00000214491 33 0 0.00 30 4 11.76 - - - SERPINI1 0 genome.wustl.edu 37 3 167525056 167525056 + Missense_Mutation SNP T T C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 3 167525056 167525056 T C SNP SERPINI1 ENST00000466865 human ensembl 69_37n +1 novel missense c.31 p.F11L 0.999 pfam_Sepin_dom,superfamily_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SERPINI1 HGNC ENSG00000163536 35 0 0.00 26 7 21.21 - - - SGCZ 0 genome.wustl.edu 37 8 13965707 13965707 + Silent SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 8 13965707 13965707 C T SNP SGCZ ENST00000382080 human ensembl 69_37n -1 known silent c.585 p.T195 0.993 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 90 0 0.00 87 11 11.22 - - - SLC25A41 0 genome.wustl.edu 37 19 6432160 6432160 + Missense_Mutation SNP T T A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 19 6432160 6432160 T A SNP SLC25A41 ENST00000321510 human ensembl 69_37n -1 known missense c.263 p.N88I 0.083 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 52 0 0.00 31 4 11.43 - - - SP140 0 genome.wustl.edu 37 2 231102991 231102991 + Nonsense_Mutation SNP G G T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 2 231102991 231102991 G T SNP SP140 ENST00000392045 human ensembl 69_37n +1 known nonsense c.301 p.E101* 0.025 pfam_Sp100 pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 58 0 0.00 46 10 17.86 - - - SPTB 0 genome.wustl.edu 37 14 65249163 65249163 + Missense_Mutation SNP T T C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 14 65249163 65249163 T C SNP SPTB ENST00000389722 human ensembl 69_37n -1 known missense c.4111 p.K1371E 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,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 SPTB HGNC ENSG00000070182 29 0 0.00 36 4 10.00 - - - STARD5 0 genome.wustl.edu 37 15 81616333 81616333 + Missense_Mutation SNP C C G TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 15 81616333 81616333 C G SNP STARD5 ENST00000560156 human ensembl 69_37n -1 known missense c.108 p.E36D 0.002 NULL NULL - no_errors STARD5 HGNC ENSG00000172345 49 0 0.00 29 10 25.64 - - - SYNJ1 0 genome.wustl.edu 37 21 34072327 34072327 + Silent SNP G G C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 21 34072327 34072327 G C SNP SYNJ1 ENST00000433931 human ensembl 69_37n -1 known silent c.417 p.S139 1.000 pfam_Syja_N pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 23 0 0.00 29 8 21.62 - - - TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 41 0 0.00 35 12 25.53 - - - TRPC6 0 genome.wustl.edu 37 11 101325833 101325833 + Splice_Site SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 11 101325833 101325833 C T SNP TRPC6 ENST00000344327 human ensembl 69_37n -1 known splice_site c.2485-1 e11-1 1.000 - - - no_errors TRPC6 HGNC ENSG00000137672 38 0 0.00 27 17 38.64 - - - UBL4A 0 genome.wustl.edu 37 X 153713698 153713698 + Nonsense_Mutation SNP C C A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 X 153713698 153713698 C A SNP UBL4A ENST00000369653 human ensembl 69_37n -1 putative nonsense c.514 p.E172* 0.000 NULL pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup - no_errors UBL4A HGNC ENSG00000102178 55 0 0.00 49 6 10.91 - - - WDFY3 0 genome.wustl.edu 37 4 85603603 85603603 + Missense_Mutation SNP C C A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 4 85603603 85603603 C A SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known missense c.9747 p.L3249F 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 31 0 0.00 19 3 13.64 - - - WFDC2 0 genome.wustl.edu 37 20 44108623 44108623 + Missense_Mutation SNP C C G TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 20 44108623 44108623 C G SNP WFDC2 ENST00000372676 human ensembl 69_37n +1 known missense c.265 p.Q89E 0.001 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core - no_errors WFDC2 HGNC ENSG00000101443 34 0 0.00 54 6 10.00 - - - ZNF132 0 genome.wustl.edu 37 19 58946286 58946286 + Silent SNP G G A TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 19 58946286 58946286 G A SNP ZNF132 ENST00000254166 human ensembl 69_37n -1 known silent c.525 p.D175 0.561 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 ZNF132 HGNC ENSG00000131849 85 0 0.00 49 33 40.24 - - - ZNF358 0 genome.wustl.edu 37 19 7584511 7584511 + Missense_Mutation SNP C C T TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 19 7584511 7584511 C T SNP ZNF358 ENST00000394341 human ensembl 69_37n +1 known missense c.383 p.T128I 0.069 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 15 0 0.00 15 6 28.57 - - - ZNF383 0 genome.wustl.edu 37 19 37734543 37734543 + Missense_Mutation SNP C C G TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 19 37734543 37734543 C G SNP ZNF383 ENST00000352998 human ensembl 69_37n +1 known missense c.1405 p.Q469E 1.000 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 ZNF383 HGNC ENSG00000188283 27 0 0.00 13 10 43.48 - - - ZW10 0 genome.wustl.edu 37 11 113619011 113619011 + Missense_Mutation SNP T T C TCGA-E2-A573-01A-11D-A29N-09 TCGA-E2-A573-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5cf9c046-c6bb-4872-827b-9d1dfe6d28f9 45873e30-7f35-4727-ba6e-3301004bef48 11 113619011 113619011 T C SNP ZW10 ENST00000200135 human ensembl 69_37n -1 known missense c.1057 p.T353A 0.374 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 52 0 0.00 49 23 31.94 - - -