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 AMPD2 0 genome.wustl.edu 37 1 110168296 110168296 + Missense_Mutation SNP C C T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 1 110168296 110168296 C T SNP AMPD2 ENST00000256578 human ensembl 69_37n +1 known missense c.397 p.R133C 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 36 0 0.00 29 19 39.58 - - - ANXA6 0 genome.wustl.edu 37 5 150509044 150509044 + Missense_Mutation SNP C C T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 5 150509044 150509044 C T SNP ANXA6 ENST00000354546 human ensembl 69_37n -1 known missense c.842 p.R281H 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 38 0 0.00 62 7 10.14 - - - AP1M2 0 genome.wustl.edu 37 19 10689625 10689625 + Missense_Mutation SNP G G C TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 19 10689625 10689625 G C SNP AP1M2 ENST00000590923 human ensembl 69_37n -1 known missense c.837 p.I279M 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M2 HGNC ENSG00000129354 54 0 0.00 50 18 26.47 - - - ATP11B 0 genome.wustl.edu 37 3 182566341 182566341 + Missense_Mutation SNP G G C TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 3 182566341 182566341 G C SNP ATP11B ENST00000323116 human ensembl 69_37n +1 known missense c.847 p.E283Q 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ENSG00000058063 72 0 0.00 35 14 28.57 - - - BRIP1 0 genome.wustl.edu 37 17 59871074 59871074 + Missense_Mutation SNP C C T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 17 59871074 59871074 C T SNP BRIP1 ENST00000259008 human ensembl 69_37n -1 known missense c.1357 p.A453T 0.998 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 38 0 0.00 45 25 35.21 - - - CACNA2D2 0 genome.wustl.edu 37 3 50404847 50404847 + Silent SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 3 50404847 50404847 G A SNP CACNA2D2 ENST00000435965 human ensembl 69_37n -1 known silent c.2400 p.V800 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 47 0 0.00 45 29 39.19 - - - CASZ1 0 genome.wustl.edu 37 1 10709343 10709343 + Missense_Mutation SNP C C T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 1 10709343 10709343 C T SNP CASZ1 ENST00000377022 human ensembl 69_37n -1 known missense c.3032 p.R1011H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 35 0 0.00 10 6 37.50 - - - DDX4 0 genome.wustl.edu 37 5 55094277 55094277 + Missense_Mutation SNP C C T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 5 55094277 55094277 C T SNP DDX4 ENST00000505374 human ensembl 69_37n +1 known missense c.1493 p.S498L 0.003 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 153 1 0.65 188 69 26.85 - - - DHX37 0 genome.wustl.edu 37 12 125449009 125449009 + Missense_Mutation SNP C C A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 12 125449009 125449009 C A SNP DHX37 ENST00000308736 human ensembl 69_37n -1 known missense c.1976 p.W659L 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 46 0 0.00 32 15 31.91 - - - DNAL1 0 genome.wustl.edu 37 14 74156135 74156135 + Missense_Mutation SNP A A G TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 14 74156135 74156135 A G SNP DNAL1 ENST00000553645 human ensembl 69_37n +1 known missense c.449 p.N150S 1.000 NULL NULL - no_errors DNAL1 HGNC ENSG00000119661 67 0 0.00 62 20 24.39 - - - ELF2 0 genome.wustl.edu 37 4 139981717 139981717 + Silent SNP G G T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 4 139981717 139981717 G T SNP ELF2 ENST00000379550 human ensembl 69_37n -1 known silent c.918 p.T306 0.863 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF2 HGNC ENSG00000109381 51 0 0.00 31 21 40.38 - - - FBLN2 0 genome.wustl.edu 37 3 13669372 13669372 + Silent SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 3 13669372 13669372 G A SNP FBLN2 ENST00000404922 human ensembl 69_37n +1 known silent c.2472 p.P824 0.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 27 0 0.00 22 13 37.14 - - - HEY1 0 genome.wustl.edu 37 8 80677525 80677525 + Silent SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 8 80677525 80677525 G A SNP HEY1 ENST00000337919 human ensembl 69_37n -1 known silent c.825 p.F275 0.997 NULL pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors HEY1 HGNC ENSG00000164683 44 0 0.00 50 27 35.06 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32549548 32549548 + Silent SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 6 32549548 32549548 G A SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known silent c.438 p.C146 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 37 0 0.00 81 18 18.18 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32549563 32549563 + Silent SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 6 32549563 32549563 G A SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known silent c.423 p.H141 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 34 0 0.00 82 18 18.00 - - - IGHA1 0 genome.wustl.edu 37 14 106174399 106174399 + Missense_Mutation SNP G G T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 14 106174399 106174399 G T SNP IGHA1 ENST00000390547 human ensembl 69_37n -1 known missense c.390 p.H130Q 0.005 pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHA1 HGNC ENSG00000211895 59 0 0.00 53 36 40.45 - - - IREB2 0 genome.wustl.edu 37 15 78783006 78783006 + Missense_Mutation SNP T T G TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 15 78783006 78783006 T G SNP IREB2 ENST00000258886 human ensembl 69_37n +1 known missense c.2227 p.L743V 0.407 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 66 0 0.00 60 8 11.76 - - - ITPKB 0 genome.wustl.edu 37 1 226924884 226924885 + In_Frame_Ins INS - - CCA TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 1 226924884 226924885 - CCA INS ITPKB ENST00000272117 human ensembl 69_37n -1 known in_frame_ins c.276_275 p.93in_frame_insG 0.091:0.097 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 12 0 0.00 5 2 28.57 - - - KGFLP2 0 genome.wustl.edu 37 9 41962602 41962602 + RNA SNP G G C TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 9 41962602 41962602 G C SNP KGFLP2 ENST00000454645 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 42 0 0.00 68 10 12.82 - - - MAMDC4 0 genome.wustl.edu 37 9 139752492 139752492 + Missense_Mutation SNP C C A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 9 139752492 139752492 C A SNP MAMDC4 ENST00000445819 human ensembl 69_37n +1 known missense c.2763 p.H921Q 0.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom - no_errors MAMDC4 HGNC ENSG00000177943 13 0 0.00 2 4 66.67 - - - MEN1 0 genome.wustl.edu 37 11 64572092 64572093 + Frame_Shift_Ins INS - - G TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 11 64572092 64572093 - G INS MEN1 ENST00000337652 human ensembl 69_37n -1 known frame_shift_ins c.1562_1561 p.R521fs 1.000:0.999 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 21 0 0.00 14 16 53.33 - - - MMGT1 0 genome.wustl.edu 37 X 135053263 135053263 + Missense_Mutation SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd X 135053263 135053263 G A SNP MMGT1 ENST00000433339 human ensembl 69_37n -1 known missense c.281 p.S94F 1.000 pfam_Magnesium_transport pfam_Magnesium_transport - no_errors MMGT1 HGNC ENSG00000169446 88 0 0.00 89 10 10.10 - - - MTOR 0 genome.wustl.edu 37 1 11294317 11294317 + Missense_Mutation SNP C C G TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 1 11294317 11294317 C G SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.2214 p.L738F 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 65 0 0.00 38 15 28.30 - - - MUC16 0 genome.wustl.edu 37 19 9070657 9070657 + Missense_Mutation SNP C C T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 19 9070657 9070657 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.16789 p.V5597M 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 56 0 0.00 56 32 36.36 - - - MYF5 0 genome.wustl.edu 37 12 81111126 81111126 + Missense_Mutation SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 12 81111126 81111126 G A SNP MYF5 ENST00000228644 human ensembl 69_37n +1 known missense c.284 p.R95H 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_Basic,pfam_Myf5,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_Basic,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MYF5 HGNC ENSG00000111049 22 0 0.00 10 7 41.18 - - - NFE2L3 0 genome.wustl.edu 37 7 26224525 26224525 + Missense_Mutation SNP T T A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 7 26224525 26224525 T A SNP NFE2L3 ENST00000056233 human ensembl 69_37n +1 known missense c.1207 p.F403I 0.364 NULL pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 54 0 0.00 41 16 28.07 - - - NID1 0 genome.wustl.edu 37 1 236156947 236156947 + Missense_Mutation SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 1 236156947 236156947 G A SNP NID1 ENST00000264187 human ensembl 69_37n -1 known missense c.2753 p.P918L 0.763 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 13 0 0.00 4 5 55.56 - - - NME7 0 genome.wustl.edu 37 1 169279296 169279296 + Missense_Mutation SNP C C T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 1 169279296 169279296 C T SNP NME7 ENST00000367811 human ensembl 69_37n -1 known missense c.301 p.D101N 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 84 0 0.00 75 65 46.43 - - - PCDHGA3 0 genome.wustl.edu 37 5 140725490 140725490 + Silent SNP A A C TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 5 140725490 140725490 A C SNP PCDHGA3 ENST00000253812 human ensembl 69_37n +1 known silent c.1890 p.R630 0.688 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 PCDHGA3 HGNC ENSG00000254245 29 0 0.00 26 5 16.13 - - - PIF1 0 genome.wustl.edu 37 15 65114690 65114690 + Silent SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 15 65114690 65114690 G A SNP PIF1 ENST00000333425 human ensembl 69_37n -1 known silent c.678 p.F226 1.000 NULL pfam_DNA_helicase_PIF1,pfam_DNA_helicase - no_errors PIF1 HGNC ENSG00000140451 39 0 0.00 24 8 25.00 - - - PPP1R12A 0 genome.wustl.edu 37 12 80199488 80199488 + Missense_Mutation SNP C C T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 12 80199488 80199488 C T SNP PPP1R12A ENST00000553081 human ensembl 69_37n -1 novel missense c.659 p.R220Q 0.996 NULL NULL - no_start_codon:pseudogene:no_stop_codon PPP1R12A HGNC ENSG00000058272 81 0 0.00 80 30 27.27 - - - PRDM6 0 genome.wustl.edu 37 5 122506701 122506701 + Silent SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 5 122506701 122506701 G A SNP PRDM6 ENST00000407847 human ensembl 69_37n +1 known silent c.1395 p.S465 0.996 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM6 HGNC ENSG00000061455 52 0 0.00 18 21 53.85 - - - SALL3 0 genome.wustl.edu 37 18 76754213 76754213 + Missense_Mutation SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 18 76754213 76754213 G A SNP SALL3 ENST00000537592 human ensembl 69_37n +1 known missense c.2222 p.C741Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 30 0 0.00 19 25 56.82 - - - SFXN5 0 genome.wustl.edu 37 2 73249692 73249692 + Missense_Mutation SNP G G C TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 2 73249692 73249692 G C SNP SFXN5 ENST00000272433 human ensembl 69_37n -1 known missense c.290 p.P97R 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN5 HGNC ENSG00000144040 77 0 0.00 19 11 36.67 - - - SLC35F3 0 genome.wustl.edu 37 1 234041449 234041449 + Silent SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 1 234041449 234041449 G A SNP SLC35F3 ENST00000366618 human ensembl 69_37n +1 known silent c.228 p.R76 1.000 NULL pfam_DMT,pfam_DUF250,pfam_DUF914_euk - no_errors SLC35F3 HGNC ENSG00000183780 29 0 0.00 5 4 44.44 - - - SOGA1 0 genome.wustl.edu 37 20 35443721 35443721 + Missense_Mutation SNP C C A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 20 35443721 35443721 C A SNP SOGA1 ENST00000357779 human ensembl 69_37n -1 known missense c.1410 p.K470N 1.000 NULL pfam_DUF3166 - no_errors SOGA1 HGNC ENSG00000149639 39 0 0.00 30 5 14.29 - - - STRADA 0 genome.wustl.edu 37 17 61788157 61788157 + Missense_Mutation SNP T T C TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 17 61788157 61788157 T C SNP STRADA ENST00000336174 human ensembl 69_37n -1 known missense c.388 p.I130V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADA HGNC ENSG00000266173 90 0 0.00 117 51 30.36 - - - STXBP6 0 genome.wustl.edu 37 14 25288273 25288273 + Silent SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 14 25288273 25288273 G A SNP STXBP6 ENST00000323944 human ensembl 69_37n -1 known silent c.579 p.S193 0.989 pfam_Synaptobrevin,pfscan_Synaptobrevin pfam_Synaptobrevin,pfscan_Synaptobrevin - no_errors STXBP6 HGNC ENSG00000168952 81 0 0.00 48 16 25.00 - - - SYNJ1 0 genome.wustl.edu 37 21 34014274 34014274 + Missense_Mutation SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 21 34014274 34014274 G A SNP SYNJ1 ENST00000433931 human ensembl 69_37n -1 known missense c.3637 p.R1213C 0.998 NULL 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 80 0 0.00 55 40 42.11 - - - TOX4 0 genome.wustl.edu 37 14 21963403 21963403 + Nonsense_Mutation SNP C C T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 14 21963403 21963403 C T SNP TOX4 ENST00000262709 human ensembl 69_37n +1 known nonsense c.1657 p.Q553* 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX4 HGNC ENSG00000092203 79 0 0.00 69 32 31.68 - - - TTLL2 0 genome.wustl.edu 37 6 167754327 167754327 + Missense_Mutation SNP A A T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 6 167754327 167754327 A T SNP TTLL2 ENST00000239587 human ensembl 69_37n +1 known missense c.939 p.K313N 0.973 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL2 HGNC ENSG00000120440 80 0 0.00 26 48 64.86 - - - VPS26A 0 genome.wustl.edu 37 10 70917832 70917832 + Missense_Mutation SNP G G A TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 10 70917832 70917832 G A SNP VPS26A ENST00000263559 human ensembl 69_37n +1 known missense c.416 p.R139K 1.000 pfam_VPS26 pfam_VPS26 - no_errors VPS26A HGNC ENSG00000122958 69 0 0.00 70 14 16.67 - - - VWA3A 0 genome.wustl.edu 37 16 22152977 22152977 + Missense_Mutation SNP C C T TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 16 22152977 22152977 C T SNP VWA3A ENST00000389398 human ensembl 69_37n +1 known missense c.2458 p.L820F 0.326 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 45 0 0.00 56 21 27.27 - - - ZNF461 0 genome.wustl.edu 37 19 37134740 37134740 + Missense_Mutation SNP T T C TCGA-E9-A228-01A-31D-A159-09 TCGA-E9-A228-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a804a8d-7dc8-4b5b-9537-b7f8f7133bda c618a148-78cb-425d-b026-e2f1c10773bd 19 37134740 37134740 T C SNP ZNF461 ENST00000588268 human ensembl 69_37n -1 known missense c.257 p.H86R 0.054 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 ZNF461 HGNC ENSG00000197808 63 0 0.00 55 22 28.57 - - -