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 ABCD3 0 genome.wustl.edu 37 1 94946144 94946144 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 1 94946144 94946144 C T SNP ABCD3 ENST00000454898 human ensembl 69_37n +1 known missense c.881 p.S294F 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,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 ABCD3 HGNC ENSG00000117528 123 0 0.00 22 17 43.59 - - - ACAD11 0 genome.wustl.edu 37 3 132277859 132277859 + Missense_Mutation SNP T T C TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 3 132277859 132277859 T C SNP ACAD11 ENST00000264990 human ensembl 69_37n -1 known missense c.2299 p.M767V 0.226 superfamily_AcylCo_DH/oxidase_C pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 177 0 0.00 66 28 29.79 - - - ACAP1 0 genome.wustl.edu 37 17 7251307 7251307 + Silent SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 17 7251307 7251307 G A SNP ACAP1 ENST00000158762 human ensembl 69_37n +1 known silent c.1410 p.V470 0.999 pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 120 0 0.00 28 33 54.10 - - - ADIPOQ 0 genome.wustl.edu 37 3 186572475 186572475 + Silent SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 3 186572475 186572475 C T SNP ADIPOQ ENST00000320741 human ensembl 69_37n +1 known silent c.717 p.L239 0.999 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q - no_errors ADIPOQ HGNC ENSG00000181092 24 0 0.00 3 4 57.14 - - - AGAP1 0 genome.wustl.edu 37 2 236715952 236715952 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 2 236715952 236715952 G A SNP AGAP1 ENST00000304032 human ensembl 69_37n +1 known missense c.1027 p.G343S 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 67 0 0.00 27 14 34.15 - - - ANGPTL1 0 genome.wustl.edu 37 1 178834294 178834294 + Silent SNP T T G TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 1 178834294 178834294 T G SNP ANGPTL1 ENST00000234816 human ensembl 69_37n -1 known silent c.618 p.R206 0.999 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL1 HGNC ENSG00000116194 99 0 0.00 80 16 16.67 - - - ANGPTL1 0 genome.wustl.edu 37 1 178834752 178834752 + Missense_Mutation SNP G G C TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 1 178834752 178834752 G C SNP ANGPTL1 ENST00000234816 human ensembl 69_37n -1 known missense c.160 p.L54V 0.916 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL1 HGNC ENSG00000116194 331 0 0.00 294 84 22.22 - - - ARSA 0 genome.wustl.edu 37 22 51064659 51064659 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 22 51064659 51064659 C T SNP ARSA ENST00000216124 human ensembl 69_37n -1 known missense c.902 p.R301Q 0.980 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSA HGNC ENSG00000100299 37 0 0.00 15 5 25.00 - - - ATG16L1 0 genome.wustl.edu 37 2 234164823 234164823 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 2 234164823 234164823 C T SNP ATG16L1 ENST00000392017 human ensembl 69_37n +1 known missense c.191 p.P64L 1.000 pfam_Autophagy-rel_prot_16 pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ATG16L1 HGNC ENSG00000085978 102 0 0.00 42 13 23.64 - - - ATP8B2 0 genome.wustl.edu 37 1 154313476 154313476 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 1 154313476 154313476 C T SNP ATP8B2 ENST00000368489 human ensembl 69_37n +1 known missense c.1280 p.T427M 1.000 superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,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 ATP8B2 HGNC ENSG00000143515 118 0 0.00 82 13 13.68 - - - BANK1 0 genome.wustl.edu 37 4 102951292 102951292 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 4 102951292 102951292 G A SNP BANK1 ENST00000322953 human ensembl 69_37n +1 known missense c.1770 p.M590I 0.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 183 0 0.00 85 33 27.97 - - - C5orf42 0 genome.wustl.edu 37 5 37169245 37169245 + Missense_Mutation SNP C C G TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 5 37169245 37169245 C G SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.6881 p.R2294T 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 214 1 0.47 111 41 26.97 - - - CD83 0 genome.wustl.edu 37 6 14131848 14131848 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 6 14131848 14131848 C T SNP CD83 ENST00000379153 human ensembl 69_37n +1 known missense c.251 p.A84V 0.001 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors CD83 HGNC ENSG00000112149 116 0 0.00 57 36 38.71 - - - CLCN3 0 genome.wustl.edu 37 4 170628037 170628037 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 4 170628037 170628037 C T SNP CLCN3 ENST00000347613 human ensembl 69_37n +1 known missense c.1769 p.T590I 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 284 0 0.00 126 113 47.28 - - - CRLF2 0 genome.wustl.edu 37 X 1314927 1314927 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 X 1314927 1314927 G A SNP CRLF2 ENST00000381567 human ensembl 69_37n -1 known missense c.734 p.S245F 0.001 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF2 HGNC ENSG00000205755 370 0 0.00 133 53 28.49 - - - DAGLA 0 genome.wustl.edu 37 11 61508016 61508016 + Silent SNP C C G TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 11 61508016 61508016 C G SNP DAGLA ENST00000257215 human ensembl 69_37n +1 known silent c.1935 p.A645 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 85 0 0.00 26 13 33.33 - - - DHRS4 0 genome.wustl.edu 37 14 24424404 24424404 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 14 24424404 24424404 G A SNP DHRS4 ENST00000313250 human ensembl 69_37n +1 known missense c.289 p.E97K 0.994 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS4 HGNC ENSG00000157326 92 0 0.00 46 26 36.11 - - - EPHA1 0 genome.wustl.edu 37 7 143104718 143104718 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 7 143104718 143104718 G A SNP EPHA1 ENST00000275815 human ensembl 69_37n -1 known missense c.136 p.P46S 0.997 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA1 HGNC ENSG00000146904 140 0 0.00 53 41 43.62 - - - FLG 0 genome.wustl.edu 37 1 152286754 152286754 + Missense_Mutation SNP C C G TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 1 152286754 152286754 C G SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.608 p.R203T 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 148 0 0.00 78 65 45.45 - - - FRYL 0 genome.wustl.edu 37 4 48584566 48584566 + Missense_Mutation SNP A A C TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 4 48584566 48584566 A C SNP FRYL ENST00000358350 human ensembl 69_37n -1 known missense c.1934 p.I645R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 300 0 0.00 36 59 62.11 - - - FUT9 0 genome.wustl.edu 37 6 96651553 96651553 + Silent SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 6 96651553 96651553 C T SNP FUT9 ENST00000302103 human ensembl 69_37n +1 known silent c.522 p.S174 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 67 0 0.00 36 11 23.40 - - - GDI1 0 genome.wustl.edu 37 X 153668757 153668757 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 X 153668757 153668757 G A SNP GDI1 ENST00000447750 human ensembl 69_37n +1 known missense c.623 p.R208H 1.000 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 115 0 0.00 59 21 25.93 - - - GH2 0 genome.wustl.edu 37 17 61958446 61958446 + Silent SNP G G C TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 17 61958446 61958446 G C SNP GH2 ENST00000332800 human ensembl 69_37n -1 known silent c.234 p.L78 0.991 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 138 0 0.00 137 32 18.82 - - - HIST1H2AK 0 genome.wustl.edu 37 6 27805754 27805754 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 6 27805754 27805754 C T SNP HIST1H2AK ENST00000330180 human ensembl 69_37n -1 known missense c.364 p.E122K 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 HIST1H2AK HGNC ENSG00000184348 194 0 0.00 78 32 28.83 - - - IER2 0 genome.wustl.edu 37 19 13264146 13264146 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 19 13264146 13264146 C T SNP IER2 ENST00000292433 human ensembl 69_37n +1 known missense c.146 p.S49L 0.998 pfam_IER pfam_IER - no_errors IER2 HGNC ENSG00000160888 12 0 0.00 0 5 100.00 - - - IMMT 0 genome.wustl.edu 37 2 86397875 86397875 + Missense_Mutation SNP C C G TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 2 86397875 86397875 C G SNP IMMT ENST00000410111 human ensembl 69_37n -1 known missense c.652 p.E218Q 0.870 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 229 0 0.00 67 30 30.93 - - - ITGA9 0 genome.wustl.edu 37 3 37778398 37778398 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 3 37778398 37778398 G A SNP ITGA9 ENST00000264741 human ensembl 69_37n +1 known missense c.2158 p.E720K 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 198 0 0.00 94 43 31.39 - - - JUP 0 genome.wustl.edu 37 17 39777865 39777865 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 17 39777865 39777865 C T SNP JUP ENST00000540235 human ensembl 69_37n -1 known missense c.1291 p.E431K 0.997 pfam_F,superfamily_Prefoldin pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 140 1 0.71 41 28 40.58 - - - METTL2B 0 genome.wustl.edu 37 7 128141820 128141820 + Silent SNP A A G TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 7 128141820 128141820 A G SNP METTL2B ENST00000262432 human ensembl 69_37n +1 known silent c.987 p.E329 0.938 pirsf_MeTrfase_METTL2_prd pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd - no_errors METTL2B HGNC ENSG00000165055 113 0 0.00 28 9 24.32 - - - MKL1 0 genome.wustl.edu 37 22 40807871 40807871 + Nonsense_Mutation SNP C C A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 22 40807871 40807871 C A SNP MKL1 ENST00000396617 human ensembl 69_37n -1 known nonsense c.2329 p.E777* 0.028 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL1 HGNC ENSG00000196588 30 0 0.00 8 5 38.46 - - - MPV17L 0 genome.wustl.edu 37 16 15501892 15501892 + Missense_Mutation SNP G G C TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 16 15501892 15501892 G C SNP MPV17L ENST00000396385 human ensembl 69_37n +1 known missense c.514 p.D172H 0.994 NULL pfam_Mpv17_PMP22 - no_errors MPV17L HGNC ENSG00000156968 189 0 0.00 80 46 36.51 - - - MX1 0 genome.wustl.edu 37 21 42807920 42807920 + Missense_Mutation SNP G G C TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 21 42807920 42807920 G C SNP MX1 ENST00000398598 human ensembl 69_37n +1 known missense c.262 p.E88Q 1.000 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX1 HGNC ENSG00000157601 80 0 0.00 24 44 64.71 - - - MYADML 0 genome.wustl.edu 37 2 33952087 33952087 + RNA SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 2 33952087 33952087 C T SNP MYADML ENST00000474610 human ensembl 69_37n -1 known rna NULL NULL 0.006 - - - no_errors MYADML HGNC ENSG00000239649 10 0 0.00 3 4 57.14 - - - MYCBP2 0 genome.wustl.edu 37 13 77817214 77817214 + Missense_Mutation SNP T T C TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 13 77817214 77817214 T C SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known missense c.2609 p.H870R 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 461 0 0.00 162 82 33.47 - - - NUP98 0 genome.wustl.edu 37 11 3700873 3700873 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 11 3700873 3700873 G A SNP NUP98 ENST00000324932 human ensembl 69_37n -1 known missense c.4984 p.R1662C 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 92 0 0.00 24 23 47.92 - - - PAPD5 0 genome.wustl.edu 37 16 50259141 50259141 + Missense_Mutation SNP C C G TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 16 50259141 50259141 C G SNP PAPD5 ENST00000436909 human ensembl 69_37n +1 known missense c.1700 p.S567C 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 248 0 0.00 35 43 55.13 - - - PCDHB10 0 genome.wustl.edu 37 5 140572714 140572714 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 5 140572714 140572714 G A SNP PCDHB10 ENST00000239446 human ensembl 69_37n +1 known missense c.589 p.D197N 0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 65 0 0.00 25 17 40.48 - - - PIK3R1 0 genome.wustl.edu 37 5 67591127 67591129 + In_Frame_Del DEL AGA AGA - TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 5 67591127 67591129 AGA - DEL PIK3R1 ENST00000396611 human ensembl 69_37n +1 known in_frame_del c.1720_1722 p.R574in_frame_del 1.000:1.000:1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 200 0 0.00 97 29 22.83 - - - PLA2G4F 0 genome.wustl.edu 37 15 42436738 42436738 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 15 42436738 42436738 G A SNP PLA2G4F ENST00000397272 human ensembl 69_37n -1 known missense c.1891 p.R631C 1.000 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 77 0 0.00 52 7 11.86 - - - PRRC2B 0 genome.wustl.edu 37 9 134319670 134319670 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 9 134319670 134319670 G A SNP PRRC2B ENST00000357304 human ensembl 69_37n +1 known missense c.568 p.V190I 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 77 0 0.00 24 18 42.86 - - - PUM2 0 genome.wustl.edu 37 2 20511409 20511409 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 2 20511409 20511409 C T SNP PUM2 ENST00000361078 human ensembl 69_37n -1 known missense c.364 p.E122K 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 259 0 0.00 81 45 35.71 - - - RGS22 0 genome.wustl.edu 37 8 100994227 100994227 + Nonsense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 8 100994227 100994227 G A SNP RGS22 ENST00000360863 human ensembl 69_37n -1 known nonsense c.3298 p.Q1100* 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 - no_errors RGS22 HGNC ENSG00000132554 185 0 0.00 202 39 16.18 - - - RYR3 0 genome.wustl.edu 37 15 33954810 33954810 + Silent SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 15 33954810 33954810 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.5079 p.T1693 0.223 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 99 0 0.00 40 16 28.57 - - - STAT2 0 genome.wustl.edu 37 12 56748596 56748596 + Missense_Mutation SNP T T C TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 12 56748596 56748596 T C SNP STAT2 ENST00000314128 human ensembl 69_37n -1 known missense c.599 p.Q200R 0.998 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 264 0 0.00 193 47 19.58 - - - TP53 0 genome.wustl.edu 37 17 7574002 7574002 + Missense_Mutation SNP C C G TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 17 7574002 7574002 C G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.1025 p.R342P 0.071 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 61 0 0.00 8 8 50.00 - - - TRIP10 0 genome.wustl.edu 37 19 6751165 6751166 + Frame_Shift_Ins INS - - A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 19 6751165 6751166 - A INS TRIP10 ENST00000313244 human ensembl 69_37n +1 known frame_shift_ins c.1749_1750 p.E584fs 1.000:1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 35 0 0.00 6 8 57.14 - - - WDFY4 0 genome.wustl.edu 37 10 49943941 49943941 + Silent SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 10 49943941 49943941 C T SNP WDFY4 ENST00000325239 human ensembl 69_37n +1 known silent c.1704 p.H568 0.491 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 68 0 0.00 27 11 28.95 - - - ZMYM3 0 genome.wustl.edu 37 X 70472831 70472831 + Missense_Mutation SNP G G A TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae68cac5-e561-4094-98fa-2303cdaa6dbb 812e038c-91bd-4e32-bf6b-99922a18b5c0 X 70472831 70472831 G A SNP ZMYM3 ENST00000373988 human ensembl 69_37n -1 known missense c.275 p.P92L 0.999 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 26 0 0.00 7 5 41.67 - - -