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 AFM 0 genome.wustl.edu 37 4 74363407 74363407 + Missense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 4 74363407 74363407 G T SNP AFM ENST00000226355 human ensembl 69_37n +1 known missense c.1230 p.K410N 0.002 pirsf_Serum_albumin_subgr,superfamily_Serum_albumin-like,smart_Serum_albumin_N pirsf_Serum_albumin_subgr,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_Serum_albumin,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 227 0 0.00 158 20 11.24 - - - AKR1E2 0 genome.wustl.edu 37 10 4884037 4884037 + Silent SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 10 4884037 4884037 G A SNP AKR1E2 ENST00000298375 human ensembl 69_37n +1 known silent c.741 p.K247 0.991 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1E2 HGNC ENSG00000165568 114 0 0.00 42 11 20.75 - - - AMPD1 0 genome.wustl.edu 37 1 115223067 115223067 + Missense_Mutation SNP G G C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 1 115223067 115223067 G C SNP AMPD1 ENST00000520113 human ensembl 69_37n -1 known missense c.679 p.P227A 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 196 0 0.00 129 63 32.81 - - - AP1B1 0 genome.wustl.edu 37 22 29726496 29726496 + Missense_Mutation SNP G G C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 22 29726496 29726496 G C SNP AP1B1 ENST00000357586 human ensembl 69_37n -1 known missense c.2637 p.S879R 0.998 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP1B1 HGNC ENSG00000100280 33 0 0.00 10 9 47.37 - - - ARPC1A 0 genome.wustl.edu 37 7 98942068 98942068 + Missense_Mutation SNP G G C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 7 98942068 98942068 G C SNP ARPC1A ENST00000262942 human ensembl 69_37n +1 known missense c.322 p.E108Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ENSG00000241685 231 0 0.00 85 26 23.42 - - - ATP2A1 0 genome.wustl.edu 37 16 28913639 28913640 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 16 28913639 28913640 - C INS ATP2A1 ENST00000357084 human ensembl 69_37n +1 known frame_shift_ins c.2456_2457 p.R822fs 0.996:0.957 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 53 0 0.00 50 7 12.28 - - - BIRC6 0 genome.wustl.edu 37 2 32824821 32824821 + Missense_Mutation SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 32824821 32824821 C A SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.13846 p.P4616T 1.000 pfam_UBQ-conjugat_E2,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 305 0 0.00 118 28 19.18 - - - C1QTNF5 0 genome.wustl.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 11 119210189 119210190 - C INS C1QTNF5 ENST00000445041 human ensembl 69_37n -1 known frame_shift_ins c.584_583 p.A195fs 1.000:0.976 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 C1QTNF5 HGNC ENSG00000223953 130 0 0.00 10 2 16.67 - - - C20orf112 0 genome.wustl.edu 37 20 31041555 31041556 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 20 31041555 31041556 - G INS C20orf112 ENST00000359676 human ensembl 69_37n -1 known frame_shift_ins c.397_396 p.Y132fs 0.997:0.034 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 138 0 0.00 26 5 16.13 - - - C4orf17 0 genome.wustl.edu 37 4 100461586 100461586 + Missense_Mutation SNP C C G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 4 100461586 100461586 C G SNP C4orf17 ENST00000326581 human ensembl 69_37n +1 known missense c.854 p.S285C 0.992 NULL NULL - no_errors C4orf17 HGNC ENSG00000138813 409 0 0.00 172 78 31.20 - - - CACNA1F 0 genome.wustl.edu 37 X 49065756 49065756 + Missense_Mutation SNP T T G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb X 49065756 49065756 T G SNP CACNA1F ENST00000376265 human ensembl 69_37n -1 known missense c.4952 p.E1651A 0.733 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 494 0 0.00 94 19 16.81 - - - CAMTA2 0 genome.wustl.edu 37 17 4875737 4875738 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 17 4875737 4875738 - G INS CAMTA2 ENST00000414043 human ensembl 69_37n -1 known frame_shift_ins c.2667_2666 p.A890fs 0.999:1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 48 0 0.00 30 4 11.76 - - - CCDC27 0 genome.wustl.edu 37 1 3688024 3688025 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 1 3688024 3688025 - C INS CCDC27 ENST00000294600 human ensembl 69_37n +1 known frame_shift_ins c.1908_1909 p.L638fs 0.063:0.211 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 90 0 0.00 32 5 13.51 - - - CDH10 0 genome.wustl.edu 37 5 24511481 24511481 + Silent SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 5 24511481 24511481 G A SNP CDH10 ENST00000264463 human ensembl 69_37n -1 known silent c.957 p.I319 0.007 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 236 0 0.00 64 40 38.46 - - - CHD7 0 genome.wustl.edu 37 8 61778453 61778454 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 8 61778453 61778454 - G INS CHD7 ENST00000307121 human ensembl 69_37n +1 known frame_shift_ins c.8955_8956 p.D2987fs 0.760:1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 41 0 0.00 27 4 12.90 - - - CLPTM1 0 genome.wustl.edu 37 19 45490564 45490564 + Missense_Mutation SNP C C G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 19 45490564 45490564 C G SNP CLPTM1 ENST00000337392 human ensembl 69_37n +1 known missense c.921 p.F307L 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 117 0 0.00 16 14 46.67 - - - COL16A1 0 genome.wustl.edu 37 1 32149769 32149769 + Missense_Mutation SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 1 32149769 32149769 C A SNP COL16A1 ENST00000271069 human ensembl 69_37n -1 known missense c.2221 p.G741W 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 24 0 0.00 11 4 26.67 - - - COL5A1 0 genome.wustl.edu 37 9 137707450 137707451 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 9 137707450 137707451 - C INS COL5A1 ENST00000371817 human ensembl 69_37n +1 known frame_shift_ins c.4043_4044 p.G1351fs 1.000:0.527 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 168 0 0.00 19 5 20.83 - - - COL9A3 0 genome.wustl.edu 37 20 61467606 61467606 + Missense_Mutation SNP G G C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 20 61467606 61467606 G C SNP COL9A3 ENST00000343916 human ensembl 69_37n +1 known missense c.1469 p.G490A 0.999 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 28 0 0.00 31 7 18.42 - - - CREBBP 0 genome.wustl.edu 37 16 3779642 3779642 + Silent SNP C C G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 16 3779642 3779642 C G SNP CREBBP ENST00000262367 human ensembl 69_37n -1 known silent c.5406 p.V1802 0.991 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 91 0 0.00 19 14 42.42 - - - CUX1 0 genome.wustl.edu 37 7 101844882 101844882 + Frame_Shift_Del DEL G G - TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 7 101844882 101844882 G - DEL CUX1 ENST00000360264 human ensembl 69_37n +1 known frame_shift_del c.2338 p.A780fs 0.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 106 0 0.00 18 2 10.00 - - - CXorf56 0 genome.wustl.edu 37 X 118694273 118694273 + Missense_Mutation SNP T T G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb X 118694273 118694273 T G SNP CXorf56 ENST00000371594 human ensembl 69_37n -1 known missense c.200 p.K67T 1.000 NULL NULL - no_errors CXorf56 HGNC ENSG00000018610 398 0 0.00 185 33 15.14 - - - DBC1 0 genome.wustl.edu 37 9 122075479 122075479 + Missense_Mutation SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 9 122075479 122075479 C A SNP DBC1 ENST00000265922 human ensembl 69_37n -1 known missense c.155 p.R52M 1.000 pfam_MACPF pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 179 0 0.00 131 33 20.12 - - - DLEC1 0 genome.wustl.edu 37 3 38127748 38127749 + Frame_Shift_Ins INS - - TGTG TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 3 38127748 38127749 - TGTG INS DLEC1 ENST00000346219 human ensembl 69_37n +1 known frame_shift_ins c.1452_1453 p.G485fs 1.000:1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 235 0 0.00 39 8 17.02 - - - DMXL2 0 genome.wustl.edu 37 15 51783884 51783884 + Missense_Mutation SNP T T C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 15 51783884 51783884 T C SNP DMXL2 ENST00000543779 human ensembl 69_37n -1 known missense c.4844 p.N1615S 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 233 0 0.00 101 17 14.41 - - - DNAH3 0 genome.wustl.edu 37 16 21011634 21011634 + Silent SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 16 21011634 21011634 C T SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known silent c.6333 p.Q2111 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 534 0 0.00 185 26 12.32 - - - DNAJC10 0 genome.wustl.edu 37 2 183597233 183597233 + Silent SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 183597233 183597233 G A SNP DNAJC10 ENST00000264065 human ensembl 69_37n +1 known silent c.813 p.L271 1.000 superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,prints_Hsp_DnaJ,prints_Thioredoxin,pfscan_DnaJ_N - no_errors DNAJC10 HGNC ENSG00000077232 313 0 0.00 103 28 21.37 - - - DNMT1 0 genome.wustl.edu 37 19 10250460 10250460 + Missense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 19 10250460 10250460 G T SNP DNMT1 ENST00000588913 human ensembl 69_37n -1 known missense c.119 p.S40Y 0.842 pfam_C5_MeTfrase,prints_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNMT1 HGNC ENSG00000130816 76 0 0.00 25 5 16.67 - - - DPAGT1 0 genome.wustl.edu 37 11 118967894 118967894 + Frame_Shift_Del DEL G G - TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 11 118967894 118967894 G - DEL DPAGT1 ENST00000354202 human ensembl 69_37n -1 known frame_shift_del c.1119 p.I374fs 0.987 NULL pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 428 0 0.00 85 30 25.86 - - - ECI2 0 genome.wustl.edu 37 6 4116163 4116163 + Nonsense_Mutation SNP G G C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 6 4116163 4116163 G C SNP ECI2 ENST00000380118 human ensembl 69_37n -1 known nonsense c.1130 p.S377* 0.979 NULL pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 526 0 0.00 89 25 21.93 - - - ELAVL3 0 genome.wustl.edu 37 19 11577604 11577605 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 19 11577604 11577605 - C INS ELAVL3 ENST00000359227 human ensembl 69_37n -1 known frame_shift_ins c.48_47 p.A18fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 151 1 0.66 90 14 13.46 - - - FAM190B 0 genome.wustl.edu 37 10 86259685 86259685 + Missense_Mutation SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 10 86259685 86259685 C A SNP FAM190B ENST00000224756 human ensembl 69_37n +1 known missense c.2380 p.P794T 1.000 NULL NULL - no_errors FAM190B HGNC ENSG00000107771 244 0 0.00 106 28 20.90 - - - FAM208B 0 genome.wustl.edu 37 10 5800903 5800903 + Missense_Mutation SNP T T C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 10 5800903 5800903 T C SNP FAM208B ENST00000328090 human ensembl 69_37n +1 known missense c.6940 p.W2314R 1.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 554 0 0.00 134 15 10.00 - - - GPR125 0 genome.wustl.edu 37 4 22438206 22438206 + Missense_Mutation SNP C C G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 4 22438206 22438206 C G SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known missense c.1144 p.G382R 0.797 pfam_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 235 1 0.42 92 32 25.81 - - - GPR151 0 genome.wustl.edu 37 5 145895382 145895382 + Missense_Mutation SNP A A G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 5 145895382 145895382 A G SNP GPR151 ENST00000311104 human ensembl 69_37n -1 known missense c.295 p.Y99H 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 286 0 0.00 91 48 34.53 - - - GPR27 0 genome.wustl.edu 37 3 71804099 71804099 + Missense_Mutation SNP A A G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 3 71804099 71804099 A G SNP GPR27 ENST00000304411 human ensembl 69_37n +1 known missense c.899 p.Y300C 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR27 HGNC ENSG00000170837 20 0 0.00 6 18 75.00 - - - GRM3 0 genome.wustl.edu 37 7 86468645 86468645 + Silent SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 7 86468645 86468645 C T SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known silent c.1815 p.P605 0.356 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C - no_errors GRM3 HGNC ENSG00000198822 250 0 0.00 161 42 20.69 - - - GUCY2D 0 genome.wustl.edu 37 17 7912874 7912874 + Silent SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 17 7912874 7912874 C T SNP GUCY2D ENST00000254854 human ensembl 69_37n +1 known silent c.1719 p.I573 0.999 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 136 0 0.00 28 18 39.13 - - - HECW2 0 genome.wustl.edu 37 2 197136015 197136015 + Splice_Site SNP T T A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 197136015 197136015 T A SNP HECW2 ENST00000260983 human ensembl 69_37n -1 known splice_site c.3239-2 e16-2 1.000 - - - no_errors HECW2 HGNC ENSG00000138411 158 1 0.63 58 37 38.54 - - - IL13RA2 0 genome.wustl.edu 37 X 114242507 114242507 + Missense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb X 114242507 114242507 G T SNP IL13RA2 ENST00000243213 human ensembl 69_37n -1 known missense c.985 p.Q329K 0.000 superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 990 0 0.00 336 141 29.56 - - - IL1RL1 0 genome.wustl.edu 37 2 102964505 102964505 + Silent SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 102964505 102964505 C A SNP IL1RL1 ENST00000233954 human ensembl 69_37n +1 known silent c.1071 p.A357 0.001 prints_IL1_rcpt_1 pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RL1 HGNC ENSG00000115602 528 0 0.00 150 39 20.63 - - - INTU 0 genome.wustl.edu 37 4 128565122 128565122 + Missense_Mutation SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 4 128565122 128565122 G A SNP INTU ENST00000335251 human ensembl 69_37n +1 known missense c.593 p.R198K 0.931 smart_PDZ,pfscan_PDZ superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 204 0 0.00 63 47 42.73 - - - IRF1 0 genome.wustl.edu 37 5 131823647 131823647 + Missense_Mutation SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 5 131823647 131823647 C T SNP IRF1 ENST00000245414 human ensembl 69_37n -1 known missense c.158 p.C53Y 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 55 0 0.00 10 7 41.18 - - - JAG1 0 genome.wustl.edu 37 20 10625009 10625009 + Missense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 20 10625009 10625009 G T SNP JAG1 ENST00000254958 human ensembl 69_37n -1 known missense c.2368 p.P790T 1.000 pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 167 0 0.00 25 23 47.92 - - - KBTBD6 0 genome.wustl.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 13 41705321 41705322 - C INS KBTBD6 ENST00000379485 human ensembl 69_37n -1 known frame_shift_ins c.1327_1326 p.R442fs 0.947:0.558 pfam_Kelch_1,smart_Kelch_1 pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 110 0 0.00 69 9 11.54 - - - KCNB1 0 genome.wustl.edu 37 20 47989890 47989891 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 20 47989890 47989891 - G INS KCNB1 ENST00000371741 human ensembl 69_37n -1 known frame_shift_ins c.2207_2206 p.R736fs 1.000:1.000 prints_K_chnl_volt-dep_Kv2.1 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 111 0 0.00 80 10 11.11 - - - KCNN3 0 genome.wustl.edu 37 1 154842243 154842243 + Silent SNP A A C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 1 154842243 154842243 A C SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known silent c.198 p.L66 0.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 24 0 0.00 38 11 22.45 - - - KCNN3 0 genome.wustl.edu 37 1 154842244 154842244 + Missense_Mutation SNP A A T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 1 154842244 154842244 A T SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known missense c.197 p.L66H 0.166 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 24 0 0.00 39 11 21.57 - - - KDR 0 genome.wustl.edu 37 4 55980407 55980407 + Silent SNP C C G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 4 55980407 55980407 C G SNP KDR ENST00000263923 human ensembl 69_37n -1 known silent c.684 p.L228 1.000 pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC ENSG00000128052 193 0 0.00 111 76 40.64 - - - KIAA1107 0 genome.wustl.edu 37 1 92642676 92642676 + Silent SNP A A C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 1 92642676 92642676 A C SNP KIAA1107 ENST00000409154 human ensembl 69_37n +1 known silent c.777 p.T259 1.000 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 191 0 0.00 90 27 23.08 - - - KLHL14 0 genome.wustl.edu 37 18 30267172 30267172 + Missense_Mutation SNP C C G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 18 30267172 30267172 C G SNP KLHL14 ENST00000359358 human ensembl 69_37n -1 known missense c.1184 p.S395T 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 264 0 0.00 131 66 33.50 - - - KLK2 0 genome.wustl.edu 37 19 51381748 51381748 + Missense_Mutation SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 19 51381748 51381748 C T SNP KLK2 ENST00000325321 human ensembl 69_37n +1 known missense c.719 p.P240L 0.960 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 KLK2 HGNC ENSG00000167751 249 0 0.00 118 27 18.49 - - - KRTAP10-6 0 genome.wustl.edu 37 21 46011700 46011700 + Silent SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 21 46011700 46011700 G A SNP KRTAP10-6 ENST00000400368 human ensembl 69_37n -1 known silent c.666 p.S222 0.041 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 218 0 0.00 179 98 35.38 - - - LDHC 0 genome.wustl.edu 37 11 18451315 18451316 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 11 18451315 18451316 - C INS LDHC ENST00000280704 human ensembl 69_37n +1 known frame_shift_ins c.276_277 p.I92fs 1.000:1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC ENSG00000166796 120 0 0.00 92 26 22.03 - - - LMTK2 0 genome.wustl.edu 37 7 97822843 97822844 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 7 97822843 97822844 - C INS LMTK2 ENST00000297293 human ensembl 69_37n +1 known frame_shift_ins c.3066_3067 p.D1024fs 0.439:0.991 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 111 0 0.00 36 4 10.00 - - - LRP2 0 genome.wustl.edu 37 2 169997024 169997025 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 169997024 169997025 - G INS LRP2 ENST00000263816 human ensembl 69_37n -1 known frame_shift_ins c.13140_13139 p.C4381fs 1.000:1.000 superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 110 1 0.90 56 7 11.11 - - - LRRN1 0 genome.wustl.edu 37 3 3887664 3887664 + Missense_Mutation SNP T T C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 3 3887664 3887664 T C SNP LRRN1 ENST00000319331 human ensembl 69_37n +1 known missense c.1339 p.C447R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN1 HGNC ENSG00000175928 83 0 0.00 60 19 23.75 - - - MAPRE3 0 genome.wustl.edu 37 2 27248516 27248517 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 27248516 27248517 - C INS MAPRE3 ENST00000233121 human ensembl 69_37n +1 known frame_shift_ins c.535_536 p.C182fs 0.999:1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 92 0 0.00 63 14 18.18 - - - MCPH1 0 genome.wustl.edu 37 8 6335116 6335116 + Missense_Mutation SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 8 6335116 6335116 C A SNP MCPH1 ENST00000344683 human ensembl 69_37n +1 known missense c.1937 p.P646Q 1.000 smart_BRCT_dom pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors MCPH1 HGNC ENSG00000147316 420 0 0.00 64 41 38.68 - - - METTL6 0 genome.wustl.edu 37 3 15455331 15455331 + Missense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 3 15455331 15455331 G T SNP METTL6 ENST00000453819 human ensembl 69_37n -1 putative missense c.460 p.L154I 0.000 NULL pfam_Methyltransf_12 - no_start_codon METTL6 HGNC ENSG00000206562 22 0 0.00 13 5 27.78 - - - MICAL2 0 genome.wustl.edu 37 11 12265628 12265628 + Nonsense_Mutation SNP C C G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 11 12265628 12265628 C G SNP MICAL2 ENST00000256194 human ensembl 69_37n +1 known nonsense c.2753 p.S918* 0.120 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL2 HGNC ENSG00000133816 950 0 0.00 145 48 24.87 - - - MLL4 0 genome.wustl.edu 37 19 36218387 36218388 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 19 36218387 36218388 - G INS MLL4 ENST00000222270 human ensembl 69_37n +1 known frame_shift_ins c.4166_4167 p.C1390fs 1.000:0.900 pirsf_MeTrfase_trithorax,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors MLL4 Clone_based_vega_gene ENSG00000105663 64 0 0.00 9 26 74.29 - - - MMP3 0 genome.wustl.edu 37 11 102712906 102712906 + Missense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 11 102712906 102712906 G T SNP MMP3 ENST00000299855 human ensembl 69_37n -1 known missense c.604 p.Q202K 0.000 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP3 HGNC ENSG00000149968 397 1 0.25 117 40 25.32 - - - MRPL51 0 genome.wustl.edu 37 12 6601615 6601615 + Missense_Mutation SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 12 6601615 6601615 G A SNP MRPL51 ENST00000229238 human ensembl 69_37n -1 known missense c.209 p.P70L 1.000 pfam_Ribosomal_L51_mit pfam_Ribosomal_L51_mit - no_errors MRPL51 HGNC ENSG00000111639 404 0 0.00 90 21 18.92 - - - MRPS5 0 genome.wustl.edu 37 2 95767455 95767455 + Missense_Mutation SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 95767455 95767455 C T SNP MRPS5 ENST00000345084 human ensembl 69_37n -1 known missense c.686 p.G229E 1.000 NULL NULL - no_errors MRPS5 HGNC ENSG00000144029 157 0 0.00 64 15 18.99 - - - MUC12 0 genome.wustl.edu 37 7 100647276 100647276 + Missense_Mutation SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 7 100647276 100647276 C A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.13861 p.P4621T 0.001 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 257 0 0.00 70 10 12.50 - - - MYH11 0 genome.wustl.edu 37 16 15802686 15802687 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 16 15802686 15802687 - G INS MYH11 ENST00000452625 human ensembl 69_37n -1 known frame_shift_ins c.5820_5819 p.Q1941fs 1.000:1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 61 0 0.00 47 6 11.32 - - - MZT2B 0 genome.wustl.edu 37 2 130948211 130948211 + Missense_Mutation SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 130948211 130948211 G A SNP MZT2B ENST00000455239 human ensembl 69_37n +1 putative missense c.310 p.D104N 0.000 NULL NULL - no_start_codon MZT2B HGNC ENSG00000152082 10 0 0.00 8 4 33.33 - - - NBEAL2 0 genome.wustl.edu 37 3 47045357 47045357 + Nonsense_Mutation SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 3 47045357 47045357 C T SNP NBEAL2 ENST00000443829 human ensembl 69_37n +1 novel nonsense c.877 p.R293* 0.860 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NBEAL2 HGNC ENSG00000160796 185 0 0.00 34 16 32.00 - - - NEK5 0 genome.wustl.edu 37 13 52701610 52701610 + Missense_Mutation SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 13 52701610 52701610 C A SNP NEK5 ENST00000355568 human ensembl 69_37n -1 known missense c.9 p.K3N 0.986 superfamily_Kinase-like_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 295 0 0.00 169 30 15.08 - - - NFKBIE 0 genome.wustl.edu 37 6 44226961 44226961 + Missense_Mutation SNP C C G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 6 44226961 44226961 C G SNP NFKBIE ENST00000275015 human ensembl 69_37n -1 known missense c.1498 p.D500H 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIE HGNC ENSG00000146232 373 0 0.00 115 16 12.21 - - - NKTR 0 genome.wustl.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 3 42679035 42679036 - C INS NKTR ENST00000232978 human ensembl 69_37n +1 known frame_shift_ins c.1839_1840 p.S616fs 0.992:1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 90 0 0.00 82 11 11.83 - - - NLRP1 0 genome.wustl.edu 37 17 5436639 5436639 + Missense_Mutation SNP T T C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 17 5436639 5436639 T C SNP NLRP1 ENST00000572272 human ensembl 69_37n -1 known missense c.3118 p.I1040V 0.001 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 112 0 0.00 42 56 57.14 - - - NLRP9 0 genome.wustl.edu 37 19 56243391 56243391 + Silent SNP A A G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 19 56243391 56243391 A G SNP NLRP9 ENST00000332836 human ensembl 69_37n -1 known silent c.1806 p.F602 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 153 0 0.00 138 83 37.39 - - - NRCAM 0 genome.wustl.edu 37 7 107824982 107824982 + Missense_Mutation SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 7 107824982 107824982 C A SNP NRCAM ENST00000379028 human ensembl 69_37n -1 known missense c.2112 p.Q704H 0.989 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 153 0 0.00 55 31 36.05 - - - OAS3 0 genome.wustl.edu 37 12 113388650 113388650 + Missense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 12 113388650 113388650 G T SNP OAS3 ENST00000228928 human ensembl 69_37n +1 known missense c.1527 p.Q509H 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 81 0 0.00 59 17 22.37 - - - OR6C76 0 genome.wustl.edu 37 12 55820959 55820959 + Frame_Shift_Del DEL A A - TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 12 55820959 55820959 A - DEL OR6C76 ENST00000328314 human ensembl 69_37n +1 known frame_shift_del c.922 p.K311fs 0.016 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6C76 HGNC ENSG00000185821 14 0 0.00 28 4 12.12 - - - PAPOLA 0 genome.wustl.edu 37 14 96997870 96997870 + Nonsense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 14 96997870 96997870 G T SNP PAPOLA ENST00000553461 human ensembl 69_37n +1 putative nonsense c.211 p.E71* 1.000 pfam_PolA_pol_cen_dom pfam_PolA_pol_cen_dom - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PAPOLA HGNC ENSG00000090060 662 0 0.00 100 30 23.08 - - - PCDHB16 0 genome.wustl.edu 37 5 140563393 140563393 + Missense_Mutation SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 5 140563393 140563393 C T SNP PCDHB16 ENST00000361016 human ensembl 69_37n +1 known missense c.1259 p.T420I 0.998 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 PCDHB16 HGNC ENSG00000196963 121 0 0.00 48 17 26.15 - - - PCYT1A 0 genome.wustl.edu 37 3 195968873 195968873 + Missense_Mutation SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 3 195968873 195968873 C A SNP PCYT1A ENST00000292823 human ensembl 69_37n -1 known missense c.654 p.R218S 0.997 NULL pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-rel - no_errors PCYT1A HGNC ENSG00000161217 149 1 0.67 105 17 13.93 - - - PHF13 0 genome.wustl.edu 37 1 6681554 6681554 + Missense_Mutation SNP A A C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 1 6681554 6681554 A C SNP PHF13 ENST00000377648 human ensembl 69_37n +1 known missense c.760 p.T254P 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 88 0 0.00 22 7 23.33 - - - PITRM1 0 genome.wustl.edu 37 10 3189822 3189822 + Missense_Mutation SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 10 3189822 3189822 G A SNP PITRM1 ENST00000380989 human ensembl 69_37n -1 known missense c.2180 p.A727V 1.000 pfam_Peptidase_M16C_assoc,superfamily_Metalloenz_metal-bd pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd - no_errors PITRM1 HGNC ENSG00000107959 71 0 0.00 30 56 65.12 - - - PLEKHD1 0 genome.wustl.edu 37 14 69967295 69967295 + Missense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 14 69967295 69967295 G T SNP PLEKHD1 ENST00000322564 human ensembl 69_37n +1 known missense c.245 p.G82V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC ENSG00000175985 80 0 0.00 29 9 23.68 - - - PPM1E 0 genome.wustl.edu 37 17 56833490 56833490 + Silent SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 17 56833490 56833490 G A SNP PPM1E ENST00000308249 human ensembl 69_37n +1 known silent c.132 p.E44 0.898 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC ENSG00000175175 21 0 0.00 38 12 24.00 - - - PRMT3 0 genome.wustl.edu 37 11 20529900 20529900 + Missense_Mutation SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 11 20529900 20529900 C T SNP PRMT3 ENST00000331079 human ensembl 69_37n +1 known missense c.1537 p.R513C 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 177 0 0.00 51 51 50.00 - - - PRRG3 0 genome.wustl.edu 37 X 150869481 150869481 + Silent SNP C C A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb X 150869481 150869481 C A SNP PRRG3 ENST00000370353 human ensembl 69_37n +1 known silent c.672 p.A224 0.048 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 134 0 0.00 55 30 35.29 - - - PTPRB 0 genome.wustl.edu 37 12 70954712 70954712 + Missense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 12 70954712 70954712 G T SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known missense c.4171 p.P1391T 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 126 1 0.79 101 78 43.58 - - - PUF60 0 genome.wustl.edu 37 8 144898861 144898861 + Frame_Shift_Del DEL T T - TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 8 144898861 144898861 T - DEL PUF60 ENST00000526683 human ensembl 69_37n -1 known frame_shift_del c.1509 p.G504fs 1.000 smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 351 0 0.00 16 2 11.11 - - - REG3G 0 genome.wustl.edu 37 2 79253897 79253897 + Silent SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 79253897 79253897 G A SNP REG3G ENST00000272324 human ensembl 69_37n +1 known silent c.135 p.K45 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_Pancreatis_ac pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Pancreatis_ac - no_errors REG3G HGNC ENSG00000143954 624 0 0.00 216 40 15.62 - - - REG3G 0 genome.wustl.edu 37 2 79253898 79253898 + Missense_Mutation SNP G G T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 79253898 79253898 G T SNP REG3G ENST00000272324 human ensembl 69_37n +1 known missense c.136 p.A46S 0.001 superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_Pancreatis_ac pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Pancreatis_ac - no_errors REG3G HGNC ENSG00000143954 622 0 0.00 216 40 15.62 - - - SAMD3 0 genome.wustl.edu 37 6 130466530 130466530 + Missense_Mutation SNP A A T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 6 130466530 130466530 A T SNP SAMD3 ENST00000368134 human ensembl 69_37n -1 known missense c.1233 p.D411E 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 232 0 0.00 94 95 50.26 - - - SERPINA1 0 genome.wustl.edu 37 14 94849571 94849571 + Missense_Mutation SNP G G C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 14 94849571 94849571 G C SNP SERPINA1 ENST00000355814 human ensembl 69_37n -1 known missense c.4 p.P2A 0.756 NULL pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA1 HGNC ENSG00000197249 114 0 0.00 13 10 43.48 - - - SETD1B 0 genome.wustl.edu 37 12 122242657 122242658 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 12 122242657 122242658 - C INS SETD1B ENST00000267197 human ensembl 69_37n +1 known frame_shift_ins c.14_15 p.H8fs 1.000:1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 54 0 0.00 23 4 14.81 - - - SGK2 0 genome.wustl.edu 37 20 42204866 42204866 + Silent SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 20 42204866 42204866 G A SNP SGK2 ENST00000341458 human ensembl 69_37n +1 known silent c.876 p.P292 0.281 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,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK2 HGNC ENSG00000101049 120 0 0.00 23 11 29.73 - - - SHANK3 0 genome.wustl.edu 37 22 51159933 51159933 + Frame_Shift_Del DEL G G - TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 22 51159933 51159933 G - DEL SHANK3 ENST00000262795 human ensembl 69_37n +1 known frame_shift_del c.3720 p.A1243fs 0.979 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 12 0 0.00 4 2 33.33 - - - SLC16A2 0 genome.wustl.edu 37 X 73641302 73641303 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb X 73641302 73641303 - G INS SLC16A2 ENST00000276033 human ensembl 69_37n +1 known frame_shift_ins c.52_53 p.D19fs 1.000:1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 33 0 0.00 20 3 13.04 - - - SLC4A3 0 genome.wustl.edu 37 2 220494110 220494111 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 220494110 220494111 - C INS SLC4A3 ENST00000273063 human ensembl 69_37n +1 known frame_shift_ins c.462_463 p.H156fs 0.015:0.049 prints_Anion_exchange_3 pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 89 0 0.00 30 10 25.00 - - - SLC4A4 0 genome.wustl.edu 37 4 72432765 72432765 + Missense_Mutation SNP T T A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 4 72432765 72432765 T A SNP SLC4A4 ENST00000425175 human ensembl 69_37n +1 known missense c.3144 p.D1048E 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 378 0 0.00 229 47 17.03 - - - SYT4 0 genome.wustl.edu 37 18 40853980 40853980 + Missense_Mutation SNP A A T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 18 40853980 40853980 A T SNP SYT4 ENST00000255224 human ensembl 69_37n -1 known missense c.414 p.S138R 0.995 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 218 0 0.00 129 49 27.53 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 19 0 0.00 21 7 25.00 - - - TCERG1 0 genome.wustl.edu 37 5 145859431 145859431 + Silent SNP G G A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 5 145859431 145859431 G A SNP TCERG1 ENST00000296702 human ensembl 69_37n +1 known silent c.1776 p.P592 0.948 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 91 0 0.00 41 26 38.24 - - - TCHHL1 0 genome.wustl.edu 37 1 152058564 152058564 + Missense_Mutation SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 1 152058564 152058564 C T SNP TCHHL1 ENST00000368806 human ensembl 69_37n -1 known missense c.1594 p.G532R 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 114 0 0.00 180 118 39.60 - - - TFE3 0 genome.wustl.edu 37 X 48887951 48887952 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb X 48887951 48887952 - C INS TFE3 ENST00000315869 human ensembl 69_37n -1 known frame_shift_ins c.1446_1445 p.P483fs 0.035:0.037 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFE3 HGNC ENSG00000068323 89 0 0.00 86 12 12.24 - - - TLR4 0 genome.wustl.edu 37 9 120475977 120475977 + Missense_Mutation SNP T T A TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 9 120475977 120475977 T A SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.1571 p.V524E 0.000 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 265 0 0.00 46 33 41.77 - - - TNFRSF21 0 genome.wustl.edu 37 6 47202544 47202544 + Missense_Mutation SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 6 47202544 47202544 C T SNP TNFRSF21 ENST00000296861 human ensembl 69_37n -1 known missense c.1600 p.A534T 0.647 NULL pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_21,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF21 HGNC ENSG00000146072 79 0 0.00 47 23 32.86 - - - TP53 0 genome.wustl.edu 37 17 7577531 7577531 + Frame_Shift_Del DEL G G - TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 17 7577531 7577531 G - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.750 p.I251fs 1.000 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 92 0 0.00 52 25 32.47 - - - TPH2 0 genome.wustl.edu 37 12 72388264 72388264 + Silent SNP T T C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 12 72388264 72388264 T C SNP TPH2 ENST00000333850 human ensembl 69_37n +1 known silent c.987 p.D329 0.995 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 356 0 0.00 130 22 14.47 - - - TRIM29 0 genome.wustl.edu 37 11 119996559 119996560 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 11 119996559 119996560 - G INS TRIM29 ENST00000341846 human ensembl 69_37n -1 known frame_shift_ins c.1173_1172 p.P392fs 0.635:0.990 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 108 0 0.00 16 2 11.11 - - - TRIM49 0 genome.wustl.edu 37 11 89531356 89531356 + Missense_Mutation SNP A A G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 11 89531356 89531356 A G SNP TRIM49 ENST00000329758 human ensembl 69_37n -1 known missense c.1301 p.I434T 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49 HGNC ENSG00000168930 92 0 0.00 67 17 20.24 - - - TRNAU1AP 0 genome.wustl.edu 37 1 28904118 28904118 + Silent SNP A A T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 1 28904118 28904118 A T SNP TRNAU1AP ENST00000373830 human ensembl 69_37n +1 known silent c.834 p.T278 0.273 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRNAU1AP HGNC ENSG00000180098 65 0 0.00 23 21 47.73 - - - TTN 0 genome.wustl.edu 37 2 179425922 179425922 + Missense_Mutation SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 179425922 179425922 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.77233 p.E25745K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 201 0 0.00 70 8 10.26 - - - TTN 0 genome.wustl.edu 37 2 179599535 179599535 + Missense_Mutation SNP A A T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 2 179599535 179599535 A T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.11384 p.L3795H 0.969 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 170 0 0.00 67 18 21.18 - - - WDR60 0 genome.wustl.edu 37 7 158723189 158723189 + Silent SNP G G C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 7 158723189 158723189 G C SNP WDR60 ENST00000407559 human ensembl 69_37n +1 known silent c.2529 p.L843 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 782 1 0.13 138 88 38.77 - - - WDTC1 0 genome.wustl.edu 37 1 27621107 27621108 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 1 27621107 27621108 - G INS WDTC1 ENST00000319394 human ensembl 69_37n +1 known frame_shift_ins c.860_861 p.E290fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 80 0 0.00 42 5 10.64 - - - ZBTB4 0 genome.wustl.edu 37 17 7370109 7370110 + Frame_Shift_Ins INS - - G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 17 7370109 7370110 - G INS ZBTB4 ENST00000311403 human ensembl 69_37n -1 known frame_shift_ins c.12_11 p.A5fs 0.997:1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 23 0 0.00 25 8 24.24 - - - ZFPL1 0 genome.wustl.edu 37 11 64854242 64854242 + Missense_Mutation SNP C C T TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 11 64854242 64854242 C T SNP ZFPL1 ENST00000530488 human ensembl 69_37n +1 novel missense c.139 p.L47F 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZFPL1 HGNC ENSG00000162300 336 0 0.00 71 16 18.39 - - - ZFPL1 0 genome.wustl.edu 37 11 64854532 64854532 + Missense_Mutation SNP A A G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 11 64854532 64854532 A G SNP ZFPL1 ENST00000294258 human ensembl 69_37n +1 known missense c.614 p.E205G 0.991 NULL NULL - no_errors ZFPL1 HGNC ENSG00000162300 48 0 0.00 20 4 16.67 - - - ZMIZ1 0 genome.wustl.edu 37 10 81072445 81072446 + Frame_Shift_Ins INS - - C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 10 81072445 81072446 - C INS ZMIZ1 ENST00000334512 human ensembl 69_37n +1 known frame_shift_ins c.3143_3144 p.D1051fs 1.000:0.963 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 183 0 0.00 22 3 12.00 - - - ZNF630 0 genome.wustl.edu 37 X 47920304 47920304 + Silent SNP A A G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb X 47920304 47920304 A G SNP ZNF630 ENST00000409324 human ensembl 69_37n -1 known silent c.36 p.D12 0.956 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 258 0 0.00 73 36 33.03 - - - ZNF782 0 genome.wustl.edu 37 9 99580237 99580237 + Nonstop_Mutation SNP T T G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 9 99580237 99580237 T G SNP ZNF782 ENST00000289032 human ensembl 69_37n -1 putative nonstop c.2033 p.*678S 0.116 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF782 HGNC ENSG00000196597 258 0 0.00 151 26 14.69 - - - ZSCAN16 0 genome.wustl.edu 37 6 28093507 28093507 + Missense_Mutation SNP G G C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 6 28093507 28093507 G C SNP ZSCAN16 ENST00000340487 human ensembl 69_37n +1 known missense c.286 p.D96H 0.854 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN16 HGNC ENSG00000196812 118 0 0.00 81 29 26.36 - - - ZSCAN29 0 genome.wustl.edu 37 15 43658336 43658336 + Silent SNP A A G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 15ca7c47-131a-4dd7-b0a7-584577b4b02c c83a2793-64cb-4b8a-a9ab-8b086e307aeb 15 43658336 43658336 A G SNP ZSCAN29 ENST00000396976 human ensembl 69_37n -1 known silent c.1194 p.A398 0.755 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 86 0 0.00 65 11 14.47 - - -