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 ABCB11 0 genome.wustl.edu 37 2 169814622 169814622 + Missense_Mutation SNP A A C TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 2 169814622 169814622 A C SNP ABCB11 ENST00000263817 human ensembl 69_37n -1 known missense c.2195 p.V732G 0.663 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 80 0 0.00 29 17 36.96 - - - AK8 0 genome.wustl.edu 37 9 135702351 135702351 + Missense_Mutation SNP G G T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 9 135702351 135702351 G T SNP AK8 ENST00000298545 human ensembl 69_37n -1 known missense c.647 p.A216D 0.021 pfam_Adenylate_kin pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 266 0 0.00 101 32 24.06 - - - ANGPT4 0 genome.wustl.edu 37 20 896760 896760 + Missense_Mutation SNP C C T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 20 896760 896760 C T SNP ANGPT4 ENST00000381922 human ensembl 69_37n -1 known missense c.98 p.C33Y 0.004 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ENSG00000101280 171 0 0.00 62 14 18.42 - - - BCOR 0 genome.wustl.edu 37 X 39937122 39937122 + Missense_Mutation SNP G G A TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de X 39937122 39937122 G A SNP BCOR ENST00000378444 human ensembl 69_37n -1 known missense c.61 p.R21C 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 153 0 0.00 90 31 25.62 - - - BMP3 0 genome.wustl.edu 37 4 81967479 81967479 + Missense_Mutation SNP C C T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 4 81967479 81967479 C T SNP BMP3 ENST00000282701 human ensembl 69_37n +1 known missense c.904 p.L302F 1.000 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 131 0 0.00 19 30 61.22 - - - BMP6 0 genome.wustl.edu 37 6 7845540 7845540 + Missense_Mutation SNP C C G TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 6 7845540 7845540 C G SNP BMP6 ENST00000283147 human ensembl 69_37n +1 known missense c.832 p.Q278E 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 171 0 0.00 76 84 52.50 - - - BTBD10 0 genome.wustl.edu 37 11 13410404 13410404 + Missense_Mutation SNP G G A TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 11 13410404 13410404 G A SNP BTBD10 ENST00000278174 human ensembl 69_37n -1 known missense c.1402 p.P468S 1.000 NULL superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors BTBD10 HGNC ENSG00000148925 113 0 0.00 38 12 24.00 - - - C12orf39 0 genome.wustl.edu 37 12 21679844 21679844 + Missense_Mutation SNP A A G TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 12 21679844 21679844 A G SNP C12orf39 ENST00000256969 human ensembl 69_37n +1 known missense c.31 p.T11A 0.000 NULL NULL - no_errors C12orf39 HGNC ENSG00000134548 382 1 0.26 143 130 47.62 - - - CASP2 0 genome.wustl.edu 37 7 142991361 142991361 + Missense_Mutation SNP G G T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 7 142991361 142991361 G T SNP CASP2 ENST00000310447 human ensembl 69_37n +1 known missense c.514 p.V172F 0.962 pirsf_Caspase_IL-1_beta pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP2 HGNC ENSG00000106144 347 0 0.00 122 96 44.04 - - - CCDC50 0 genome.wustl.edu 37 3 191093245 191093245 + Missense_Mutation SNP A A T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 3 191093245 191093245 A T SNP CCDC50 ENST00000392456 human ensembl 69_37n +1 known missense c.843 p.Q281H 0.742 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 202 0 0.00 102 16 13.56 - - - CD38 0 genome.wustl.edu 37 4 15818139 15818139 + Missense_Mutation SNP T T C TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 4 15818139 15818139 T C SNP CD38 ENST00000226279 human ensembl 69_37n +1 known missense c.239 p.V80A 0.000 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors CD38 HGNC ENSG00000004468 178 0 0.00 49 42 46.15 - - - CHAD 0 genome.wustl.edu 37 17 48545782 48545782 + Silent SNP G G A TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 17 48545782 48545782 G A SNP CHAD ENST00000258969 human ensembl 69_37n -1 known silent c.393 p.D131 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHAD HGNC ENSG00000136457 94 0 0.00 40 36 46.75 - - - CTNNB1 0 genome.wustl.edu 37 3 41268806 41268806 + Silent SNP T T A TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 3 41268806 41268806 T A SNP CTNNB1 ENST00000349496 human ensembl 69_37n +1 known silent c.1044 p.S348 0.987 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo - no_errors CTNNB1 HGNC ENSG00000168036 220 0 0.00 82 69 45.70 - - - CTRB2 0 genome.wustl.edu 37 16 75239875 75239875 + Missense_Mutation SNP G G T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 16 75239875 75239875 G T SNP CTRB2 ENST00000303037 human ensembl 69_37n -1 known missense c.172 p.H58N 1.000 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,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CTRB2 HGNC ENSG00000168928 11 0 0.00 2 2 50.00 - - - CYP2F1 0 genome.wustl.edu 37 19 41627952 41627952 + Missense_Mutation SNP G G T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 19 41627952 41627952 G T SNP CYP2F1 ENST00000331105 human ensembl 69_37n +1 known missense c.736 p.A246S 0.224 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 149 0 0.00 53 64 54.70 - - - DALRD3 0 genome.wustl.edu 37 3 49053757 49053757 + Missense_Mutation SNP G G C TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 3 49053757 49053757 G C SNP DALRD3 ENST00000341949 human ensembl 69_37n -1 known missense c.1163 p.A388G 0.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 132 0 0.00 72 14 16.28 - - - ENSG00000257033 0 genome.wustl.edu 37 1 20977053 20977053 + Splice_Site SNP T T G TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 1 20977053 20977053 T G SNP ENSG00000257033 ENST00000535128 human ensembl 69_37n -1 known splice_site c.NULL NULL 0.001 - - - no_coding_region:pseudogene AL391357.1 Clone_based_ensembl_gene ENSG00000257033 152 0 0.00 44 24 35.29 - - - F2 0 genome.wustl.edu 37 11 46744957 46744957 + Missense_Mutation SNP G G T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 11 46744957 46744957 G T SNP F2 ENST00000311907 human ensembl 69_37n +1 known missense c.448 p.A150S 0.171 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Peptidase_S1A_prothrombin,pfscan_Kringle pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_prothrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A_prothrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 87 0 0.00 44 30 40.54 - - - FAT2 0 genome.wustl.edu 37 5 150905430 150905430 + Missense_Mutation SNP C C A TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 5 150905430 150905430 C A SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.10405 p.G3469W 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 108 0 0.00 81 37 31.36 - - - FAT2 0 genome.wustl.edu 37 5 150924172 150924172 + Silent SNP C C T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 5 150924172 150924172 C T SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known silent c.6516 p.Q2172 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 84 0 0.00 22 26 54.17 - - - FHOD1 0 genome.wustl.edu 37 16 67265611 67265611 + Missense_Mutation SNP C C A TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 16 67265611 67265611 C A SNP FHOD1 ENST00000258201 human ensembl 69_37n -1 known missense c.2314 p.A772S 0.971 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC ENSG00000135723 266 0 0.00 58 37 38.95 - - - GHITM 0 genome.wustl.edu 37 10 85901316 85901316 + Silent SNP T T G TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 10 85901316 85901316 T G SNP GHITM ENST00000372134 human ensembl 69_37n +1 known silent c.60 p.A20 0.000 NULL pfam_Bax_inhibitor_1-related - no_errors GHITM HGNC ENSG00000165678 232 0 0.00 147 29 16.48 - - - GPR98 0 genome.wustl.edu 37 5 89939720 89939720 + Missense_Mutation SNP A A T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 5 89939720 89939720 A T SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.2654 p.D885V 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 324 0 0.00 98 103 51.24 - - - HMCN1 0 genome.wustl.edu 37 1 185984569 185984569 + Missense_Mutation SNP G G C TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 1 185984569 185984569 G C SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.4909 p.V1637L 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 234 0 0.00 58 32 35.56 - - - IGSF1 0 genome.wustl.edu 37 X 130409100 130409100 + Nonsense_Mutation SNP G G T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de X 130409100 130409100 G T SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known nonsense c.3360 p.Y1120* 0.997 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 215 0 0.00 72 101 58.38 - - - KRTAP5-10 0 genome.wustl.edu 37 11 71276905 71276905 + Missense_Mutation SNP A A C TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 11 71276905 71276905 A C SNP KRTAP5-10 ENST00000398531 human ensembl 69_37n +1 known missense c.272 p.K91T 0.636 NULL NULL - no_errors KRTAP5-10 HGNC ENSG00000204572 107 0 0.00 63 33 34.38 - - - LMBR1L 0 genome.wustl.edu 37 12 49499717 49499717 + Missense_Mutation SNP T T C TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 12 49499717 49499717 T C SNP LMBR1L ENST00000267102 human ensembl 69_37n -1 known missense c.181 p.N61D 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC ENSG00000139636 264 0 0.00 236 46 16.31 - - - LTF 0 genome.wustl.edu 37 3 46501161 46501161 + Silent SNP A A G TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 3 46501161 46501161 A G SNP LTF ENST00000231751 human ensembl 69_37n -1 known silent c.192 p.C64 0.531 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors LTF HGNC ENSG00000012223 274 0 0.00 115 85 42.50 - - - MBOAT1 0 genome.wustl.edu 37 6 20144468 20144468 + Missense_Mutation SNP G G A TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 6 20144468 20144468 G A SNP MBOAT1 ENST00000541730 human ensembl 69_37n -1 known missense c.11 p.S4L 0.999 NULL pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 276 0 0.00 242 32 11.68 - - - NFYB 0 genome.wustl.edu 37 12 104519903 104519903 + Nonsense_Mutation SNP G G A TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 12 104519903 104519903 G A SNP NFYB ENST00000240055 human ensembl 69_37n -1 known nonsense c.220 p.Q74* 1.000 pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors NFYB HGNC ENSG00000120837 714 0 0.00 360 68 15.85 - - - NLRP12 0 genome.wustl.edu 37 19 54312951 54312951 + Silent SNP C C T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 19 54312951 54312951 C T SNP NLRP12 ENST00000391773 human ensembl 69_37n -1 known silent c.1962 p.L654 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 97 0 0.00 35 9 20.45 - - - PGK2 0 genome.wustl.edu 37 6 49753845 49753845 + Silent SNP G G T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 6 49753845 49753845 G T SNP PGK2 ENST00000304801 human ensembl 69_37n -1 known silent c.1056 p.T352 0.998 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 325 0 0.00 149 35 19.02 - - - PIP4K2C 0 genome.wustl.edu 37 12 57987825 57987825 + Missense_Mutation SNP G G T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 12 57987825 57987825 G T SNP PIP4K2C ENST00000354947 human ensembl 69_37n +1 known missense c.192 p.Q64H 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2C HGNC ENSG00000166908 242 0 0.00 107 132 55.23 - - - POU2F2 0 genome.wustl.edu 37 19 42596350 42596350 + Missense_Mutation SNP C C T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 19 42596350 42596350 C T SNP POU2F2 ENST00000342301 human ensembl 69_37n -1 known missense c.1271 p.G424E 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 8 0 0.00 25 15 37.50 - - - PTGER3 0 genome.wustl.edu 37 1 71318542 71318542 + Missense_Mutation SNP C C G TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 1 71318542 71318542 C G SNP PTGER3 ENST00000460330 human ensembl 69_37n -1 known missense c.1105 p.E369Q 0.987 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 198 0 0.00 72 58 44.62 - - - SCN2A 0 genome.wustl.edu 37 2 166179821 166179822 + Frame_Shift_Del DEL CT CT - TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 2 166179821 166179822 CT - DEL SCN2A ENST00000283256 human ensembl 69_37n +1 known frame_shift_del c.1827_1828 p.L611fs 1.000:1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 169 0 0.00 47 20 29.85 - - - SHROOM4 0 genome.wustl.edu 37 X 50350476 50350476 + Missense_Mutation SNP G G C TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de X 50350476 50350476 G C SNP SHROOM4 ENST00000289292 human ensembl 69_37n -1 known missense c.3666 p.H1222Q 0.000 pfam_ASD2 pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 202 0 0.00 74 47 38.84 - - - SMC1B 0 genome.wustl.edu 37 22 45804622 45804622 + Silent SNP G G A TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 22 45804622 45804622 G A SNP SMC1B ENST00000357450 human ensembl 69_37n -1 known silent c.267 p.G89 0.803 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 180 0 0.00 46 28 37.84 - - - THEM5 0 genome.wustl.edu 37 1 151823599 151823599 + Missense_Mutation SNP A A G TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 1 151823599 151823599 A G SNP THEM5 ENST00000368817 human ensembl 69_37n -1 known missense c.394 p.F132L 1.000 NULL pfam_Thioestr_supf - no_errors THEM5 HGNC ENSG00000196407 257 1 0.39 145 89 37.87 - - - TMEM91 0 genome.wustl.edu 37 19 41889743 41889743 + Silent SNP C C T TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 19 41889743 41889743 C T SNP TMEM91 ENST00000392002 human ensembl 69_37n +1 known silent c.484 p.L162 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors TMEM91 HGNC ENSG00000142046 71 0 0.00 63 13 17.11 - - - TPCN2 0 genome.wustl.edu 37 11 68825062 68825062 + Missense_Mutation SNP G G C TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 11 68825062 68825062 G C SNP TPCN2 ENST00000294309 human ensembl 69_37n +1 known missense c.446 p.W149S 0.992 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 384 0 0.00 195 117 37.38 - - - TRAF5 0 genome.wustl.edu 37 1 211545718 211545718 + Frame_Shift_Del DEL G G - TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 1 211545718 211545718 G - DEL TRAF5 ENST00000261464 human ensembl 69_37n +1 known frame_shift_del c.1348 p.D451fs 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC ENSG00000082512 93 0 0.00 56 15 21.13 - - - UCK2 0 genome.wustl.edu 37 1 165859581 165859581 + Silent SNP G G A TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 1 165859581 165859581 G A SNP UCK2 ENST00000367879 human ensembl 69_37n +1 known silent c.240 p.Q80 1.000 pfam_PRK/URK,pfam_Depp_CoAkinase,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_Depp_CoAkinase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCK2 HGNC ENSG00000143179 251 0 0.00 149 27 15.34 - - - USPL1 0 genome.wustl.edu 37 13 31232168 31232168 + Missense_Mutation SNP A A G TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 13 31232168 31232168 A G SNP USPL1 ENST00000255304 human ensembl 69_37n +1 known missense c.1954 p.I652V 0.000 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 166 0 0.00 11 38 77.55 - - - ZWILCH 0 genome.wustl.edu 37 15 66829513 66829513 + Missense_Mutation SNP A A C TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01f78efa-ba0b-4263-81fd-d3d8ea1bc5fd 9c963e55-136d-498c-b440-09d4fc3f74de 15 66829513 66829513 A C SNP ZWILCH ENST00000307897 human ensembl 69_37n +1 known missense c.1486 p.I496L 1.000 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC ENSG00000174442 286 1 0.35 146 25 14.62 - - -