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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val UPF2 0 genome.wustl.edu 37 10 11990442 11990442 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 10 11990442 11990442 C G SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.3100 p.E1034Q 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 tier1 - - 40 0 0.00 49 9 15.52 64 0 0.00 62 11 14.86 DH11 0 genome.wustl.edu 37 7 21628211 21628211 + Nonsense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 21628211 21628211 C T SNP DH11 ENST00000328843 human ensembl 74_37 +1 known nonsense c.1930 p.R644* 0.978 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH11 HGNC ENSG00000105877 tier1 - - 38 0 0.00 26 11 29.73 94 0 0.00 64 38 36.89 SHROOM3 0 genome.wustl.edu 37 4 77700031 77700031 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 4 77700031 77700031 C A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.5692 p.L1898M 1.000 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 58 0 0.00 33 15 31.25 76 0 0.00 28 13 31.71 IRS4 0 genome.wustl.edu 37 X 107976496 107976496 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b X 107976496 107976496 G T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.3079 p.P1027T 0.976 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 61 0 0.00 19 12 38.71 97 0 0.00 31 24 43.64 COIL 0 genome.wustl.edu 37 17 55016500 55016500 + Missense_Mutation SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 55016500 55016500 T C SNP COIL ENST00000240316 human ensembl 74_37 -1 known missense c.1663 p.K555E 1.000 NULL NULL - no_errors COIL HGNC ENSG00000121058 tier1 - - 35 0 0.00 31 17 35.42 91 0 0.00 54 23 29.49 BACE1 0 genome.wustl.edu 37 11 117161674 117161674 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 117161674 117161674 G A SNP BACE1 ENST00000313005 human ensembl 74_37 -1 known missense c.1034 p.S345L 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase - no_errors BACE1 HGNC ENSG00000186318 tier1 - - 37 0 0.00 25 20 44.44 105 0 0.00 67 22 24.72 PLCXD1 0 genome.wustl.edu 37 X 215829 215829 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b X 215829 215829 G A SNP PLCXD1 ENST00000381657 human ensembl 74_37 +1 known missense c.799 p.E267K 0.880 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD1 HGNC ENSG00000182378 tier1 - - 125 0 0.00 102 33 24.44 62 0 0.00 17 20 54.05 TNK2 0 genome.wustl.edu 37 3 195609097 195609097 + Nonsense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 195609097 195609097 C A SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known nonsense c.901 p.E301* 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 tier1 - - 52 0 0.00 37 7 15.91 49 0 0.00 23 8 25.81 VPS13C 0 genome.wustl.edu 37 15 62273609 62273609 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 15 62273609 62273609 C G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.2098 p.V700L 0.982 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 135 1 0.73 197 21 9.63 123 0 0.00 135 18 11.76 IL17RE 0 genome.wustl.edu 37 3 9944676 9944676 + Silent SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 9944676 9944676 C G SNP IL17RE ENST00000421412 human ensembl 74_37 +1 known silent c.159 p.L53 0.028 NULL pfam_SEFIR - no_errors IL17RE HGNC ENSG00000163701 tier1 - - 61 0 0.00 43 45 51.14 30 0 0.00 18 27 60.00 THSD7A 0 genome.wustl.edu 37 7 11485924 11485924 + Missense_Mutation SNP T T A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 11485924 11485924 T A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.2828 p.K943I 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 49 0 0.00 52 12 18.75 91 0 0.00 69 16 18.82 VPS13C 0 genome.wustl.edu 37 15 62273582 62273582 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 15 62273582 62273582 C T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.2125 p.E709K 0.995 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 135 0 0.00 186 17 8.37 121 0 0.00 131 18 12.08 BAZ2B 0 genome.wustl.edu 37 2 160261574 160261574 + Missense_Mutation SNP T T G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 2 160261574 160261574 T G SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.2729 p.Q910P 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_D-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_D-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_D-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_D-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 tier1 - - 83 0 0.00 89 30 25.21 92 0 0.00 71 23 24.47 RHOBTB1 0 genome.wustl.edu 37 10 62648444 62648444 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 10 62648444 62648444 C T SNP RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known missense c.982 p.D328N 0.993 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 tier1 - - 48 0 0.00 22 10 31.25 94 0 0.00 52 30 36.59 SYT6 0 genome.wustl.edu 37 1 114682308 114682308 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 114682308 114682308 C T SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known missense c.441 p.M147I 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 tier1 - - 23 0 0.00 26 18 40.91 47 0 0.00 13 19 59.38 MORN3 0 genome.wustl.edu 37 12 122091053 122091053 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 12 122091053 122091053 C T SNP MORN3 ENST00000355329 human ensembl 74_37 -1 known missense c.576 p.M192I 0.943 NULL pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 tier1 - - 94 0 0.00 63 28 30.43 114 0 0.00 70 25 26.32 PRTG 0 genome.wustl.edu 37 15 55912283 55912283 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 15 55912283 55912283 C A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.3380 p.G1127V 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 - - 65 0 0.00 94 16 14.55 107 0 0.00 123 16 11.51 ARHGAP21 0 genome.wustl.edu 37 10 24909075 24909075 + Silent SNP A A G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 10 24909075 24909075 A G SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known silent c.1749 p.F583 0.995 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 81 0 0.00 83 10 10.75 88 0 0.00 90 10 10.00 SLC7A14 0 genome.wustl.edu 37 3 170201202 170201202 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 170201202 170201202 G T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.1016 p.A339D 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 tier1 - - 52 0 0.00 69 19 21.59 72 0 0.00 63 8 11.27 INPP5A 0 genome.wustl.edu 37 10 134563094 134563094 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 10 134563094 134563094 G T SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known missense c.806 p.R269L 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 tier1 - - 34 0 0.00 20 11 35.48 33 0 0.00 28 23 45.10 SPHKAP 0 genome.wustl.edu 37 2 228882458 228882458 + Missense_Mutation SNP A A C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 2 228882458 228882458 A C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.3112 p.F1038V 0.997 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 50 0 0.00 18 3 14.29 61 0 0.00 39 11 22.00 SLCO1B1 0 genome.wustl.edu 37 12 21349882 21349882 + Missense_Mutation SNP A A T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 12 21349882 21349882 A T SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.730 p.T244S 0.007 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 tier1 - - 54 0 0.00 131 90 40.72 40 0 0.00 45 44 49.44 ALAD2 0 genome.wustl.edu 37 11 89924822 89924822 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 89924822 89924822 C T SNP ALAD2 ENST00000375944 human ensembl 74_37 +1 novel missense c.893 p.T298I 0.991 NULL pfam_Protease-assoc_domain - no_errors ALAD2 HGNC ENSG00000077616 tier1 - - 74 0 0.00 77 19 19.79 75 0 0.00 64 8 11.11 CYFIP2 0 genome.wustl.edu 37 5 156757766 156757766 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 5 156757766 156757766 C T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.2248 p.R750C 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 86 0 0.00 70 25 26.32 109 0 0.00 62 39 38.61 OR5F1 0 genome.wustl.edu 37 11 55761685 55761685 + Silent SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 55761685 55761685 G T SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known silent c.417 p.T139 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 tier1 rs201523946 - 59 0 0.00 51 13 20.31 51 0 0.00 70 11 13.58 ZNF850 0 genome.wustl.edu 37 19 37239096 37239096 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 19 37239096 37239096 C G SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known missense c.2846 p.G949A 0.161 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF850 HGNC ENSG00000267041 tier1 - - 47 0 0.00 33 12 26.67 89 0 0.00 48 19 27.94 TANGO6 0 genome.wustl.edu 37 16 68961693 68961693 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 16 68961693 68961693 C T SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.2350 p.H784Y 0.000 pfam_DUF2435,superfamily_ARM-type_fold pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 tier1 - - 30 0 0.00 13 31 70.45 102 0 0.00 39 61 61.00 C6orf165 0 genome.wustl.edu 37 6 88173930 88173930 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 6 88173930 88173930 G T SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.1831 p.V611F 0.311 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 tier1 - - 41 0 0.00 23 10 30.30 132 0 0.00 58 20 25.64 UVRAG 0 genome.wustl.edu 37 11 75590941 75590941 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 75590941 75590941 C T SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known missense c.289 p.L97F 1.000 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 tier1 - - 126 0 0.00 116 45 27.95 128 1 0.77 128 40 23.81 UGT2B17 0 genome.wustl.edu 37 4 69431379 69431379 + Missense_Mutation SNP A A T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 4 69431379 69431379 A T SNP UGT2B17 ENST00000317746 human ensembl 74_37 -1 known missense c.784 p.Y262N 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 tier1 - - 75 0 0.00 29 45 60.81 60 0 0.00 26 16 38.10 FAM205B 0 genome.wustl.edu 37 9 34835569 34835569 + R SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 34835569 34835569 G T SNP FAM205B ENST00000455647 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM205B HGNC ENSG00000257198 tier1 - - 74 0 0.00 91 21 18.75 144 0 0.00 124 28 18.42 TENM2 0 genome.wustl.edu 37 5 167642246 167642246 + Silent SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 5 167642246 167642246 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.4047 p.K1349 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 48 0 0.00 27 17 38.64 112 0 0.00 42 19 31.15 SEMG1 0 genome.wustl.edu 37 20 43836660 43836660 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 20 43836660 43836660 C T SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known missense c.722 p.A241V 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 tier1 - - 73 0 0.00 72 34 32.08 103 0 0.00 84 32 27.59 VWF 0 genome.wustl.edu 37 12 6085362 6085362 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 12 6085362 6085362 C A SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.7352 p.C2451F 1.000 pirsf_VWF,pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 31 0 0.00 30 14 31.82 48 0 0.00 26 7 21.21 LCT 0 genome.wustl.edu 37 2 136567385 136567385 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 2 136567385 136567385 C A SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.2532 p.K844N 0.977 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 37 0 0.00 79 9 10.23 100 0 0.00 118 21 15.11 EPO 0 genome.wustl.edu 37 7 100320681 100320681 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 100320681 100320681 C A SNP EPO ENST00000252723 human ensembl 74_37 +1 known missense c.507 p.F169L 1.000 pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn,prints_Erythroptn pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn,prints_Erythroptn - no_errors EPO HGNC ENSG00000130427 tier1 - - 19 0 0.00 29 6 17.14 54 0 0.00 45 12 21.05 ABCB5 0 genome.wustl.edu 37 7 20795117 20795117 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 20795117 20795117 C G SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.2309 p.S770C 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 tier1 - - 44 0 0.00 58 13 18.31 85 0 0.00 68 10 12.82 RPF2 0 genome.wustl.edu 37 6 111310221 111310221 + Missense_Mutation SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 6 111310221 111310221 T C SNP RPF2 ENST00000368864 human ensembl 74_37 +1 known missense c.187 p.C63R 0.999 NULL NULL - no_errors RPF2 HGNC ENSG00000197498 tier1 - - 84 0 0.00 61 22 26.51 22 0 0.00 17 4 19.05 KLHL6 0 genome.wustl.edu 37 3 183211909 183211909 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 183211909 183211909 G T SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known missense c.1308 p.N436K 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 tier1 - - 45 0 0.00 62 11 15.07 141 0 0.00 102 23 18.40 CAC1B 0 genome.wustl.edu 37 9 141000214 141000214 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 141000214 141000214 C A SNP CAC1B ENST00000371355 human ensembl 74_37 +1 known missense c.5386 p.L1796M 0.974 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CAC1B HGNC ENSG00000148408 tier1 - - 30 0 0.00 17 12 41.38 48 0 0.00 24 21 46.67 EFNB3 0 genome.wustl.edu 37 17 7611316 7611316 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 7611316 7611316 G C SNP EFNB3 ENST00000226091 human ensembl 74_37 +1 known missense c.163 p.G55R 1.000 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 tier1 - - 88 0 0.00 90 9 9.09 57 0 0.00 46 6 11.54 EMILIN3 0 genome.wustl.edu 37 20 39991664 39991664 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 20 39991664 39991664 C T SNP EMILIN3 ENST00000332312 human ensembl 74_37 -1 known missense c.545 p.R182Q 1.000 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 tier1 - - 38 0 0.00 43 7 14.00 39 0 0.00 42 14 25.00 ASPH 0 genome.wustl.edu 37 8 62538820 62538820 + R SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 8 62538820 62538820 C G SNP ASPH ENST00000519678 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ASPH HGNC ENSG00000198363 tier1 - - 96 0 0.00 117 25 17.61 123 0 0.00 105 38 26.57 HTR2C 0 genome.wustl.edu 37 X 113965856 113965856 + Silent SNP A A T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b X 113965856 113965856 A T SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known silent c.189 p.I63 0.937 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 tier1 - - 94 0 0.00 25 17 40.48 101 0 0.00 27 22 44.90 OR51H1P 0 genome.wustl.edu 37 11 4881147 4881147 + Silent SNP A A G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 4881147 4881147 A G SNP OR51H1P ENST00000322059 human ensembl 74_37 -1 putative silent c.648 p.T216 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51H1P HGNC ENSG00000176904 tier1 - - 29 0 0.00 31 5 13.89 79 0 0.00 75 15 16.67 PPP2R2A 0 genome.wustl.edu 37 8 26227825 26227825 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 8 26227825 26227825 G C SNP PPP2R2A ENST00000380737 human ensembl 74_37 +1 known missense c.1240 p.D414H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 tier1 - - 111 0 0.00 87 24 21.62 118 0 0.00 60 14 18.92 SCRN2 0 genome.wustl.edu 37 17 45918224 45918224 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 45918224 45918224 G T SNP SCRN2 ENST00000584123 human ensembl 74_37 -1 putative missense c.10 p.P4T 0.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 tier1 - - 61 0 0.00 60 12 16.67 26 0 0.00 25 4 13.79 BIN3 0 genome.wustl.edu 37 8 22487957 22487957 + Missense_Mutation SNP T T G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 8 22487957 22487957 T G SNP BIN3 ENST00000276416 human ensembl 74_37 -1 known missense c.295 p.K99Q 1.000 pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom - no_errors BIN3 HGNC ENSG00000147439 tier1 - - 54 0 0.00 36 19 34.55 89 0 0.00 57 23 28.75 FAM69B 0 genome.wustl.edu 37 9 139616579 139616579 + Silent SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 139616579 139616579 G A SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known silent c.309 p.V103 1.000 NULL pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 tier1 - - 30 0 0.00 25 11 30.56 62 0 0.00 46 21 31.34 ZAN 0 genome.wustl.edu 37 7 100350523 100350523 + Missense_Mutation SNP A A G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 100350523 100350523 A G SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.2795 p.E932G 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 158 0 0.00 127 81 38.94 76 0 0.00 44 21 31.82 CAC1F 0 genome.wustl.edu 37 X 49065762 49065762 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b X 49065762 49065762 C G SNP CAC1F ENST00000376265 human ensembl 74_37 -1 known missense c.4946 p.G1649A 0.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CAC1F HGNC ENSG00000102001 tier1 - - 106 0 0.00 53 39 41.49 103 0 0.00 48 30 38.46 CPNE4 0 genome.wustl.edu 37 3 131300488 131300488 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 131300488 131300488 G T SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.856 p.P286T 1.000 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 tier1 - - 48 0 0.00 39 15 27.78 94 0 0.00 63 11 14.86 CRB2 0 genome.wustl.edu 37 9 126133185 126133185 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 126133185 126133185 G T SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.1853 p.G618V 0.979 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 tier1 - - 13 0 0.00 11 8 42.11 50 0 0.00 11 19 63.33 MYH9 0 genome.wustl.edu 37 22 36681262 36681262 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 22 36681262 36681262 C G SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.5388 p.E1796D 1.000 pfam_Myosin_tail,superfamily_Regulat_G_prot_signal_superfam pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 26 0 0.00 29 10 25.64 79 0 0.00 51 13 20.31 DH9 0 genome.wustl.edu 37 17 11631267 11631267 + R SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 11631267 11631267 T C SNP DH9 ENST00000584663 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors DH9 HGNC ENSG00000007174 tier1 - - 26 0 0.00 14 13 48.15 146 0 0.00 64 68 51.13 RP9 0 genome.wustl.edu 37 7 33136123 33136123 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 33136123 33136123 C T SNP RP9 ENST00000297157 human ensembl 74_37 -1 known missense c.449 p.R150Q 1.000 NULL NULL - no_errors RP9 HGNC ENSG00000164610 tier1 - - 47 0 0.00 46 32 41.03 86 0 0.00 70 28 28.00 PLA2G4C 0 genome.wustl.edu 37 19 48565415 48565415 + R SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 19 48565415 48565415 G A SNP PLA2G4C ENST00000599239 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PLA2G4C HGNC ENSG00000105499 tier1 - - 32 0 0.00 23 7 23.33 93 0 0.00 53 13 19.70 UNC80 0 genome.wustl.edu 37 2 210791624 210791624 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 2 210791624 210791624 C G SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.5522 p.A1841G 0.994 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 57 0 0.00 38 11 22.45 96 0 0.00 58 25 30.12 GLCE 0 genome.wustl.edu 37 15 69548731 69548731 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 15 69548731 69548731 G A SNP GLCE ENST00000261858 human ensembl 74_37 +1 known missense c.586 p.G196S 1.000 NULL pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 tier1 - - 53 0 0.00 59 15 20.27 166 0 0.00 216 48 18.18 ENSG00000223164 0 genome.wustl.edu 37 14 28459224 28459224 + R SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 14 28459224 28459224 T C SNP ENSG00000223164 ENST00000411232 human ensembl 74_37 +1 novel rna NULL NULL 0.025 - - - no_errors AL445384.1 Clone_based_ensembl_gene ENSG00000223164 tier1 - - 110 0 0.00 42 42 50.00 25 0 0.00 14 9 39.13 PDE1C 0 genome.wustl.edu 37 7 31815286 31815286 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 31815286 31815286 G A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.1952 p.T651M 0.999 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 tier1 rs202172020 - 74 0 0.00 53 16 23.19 104 0 0.00 70 30 30.00 ANXA13 0 genome.wustl.edu 37 8 124696849 124696849 + Splice_Site SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 8 124696849 124696849 C T SNP ANXA13 ENST00000262219 human ensembl 74_37 -1 known splice_site c.954+1 e11+1 1.000 - - - no_errors ANXA13 HGNC ENSG00000104537 tier1 - - 42 0 0.00 31 16 34.04 103 1 0.96 65 22 25.29 SCN4A 0 genome.wustl.edu 37 17 62026027 62026027 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 62026027 62026027 G T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.3088 p.H1030N 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 48 0 0.00 23 13 36.11 46 0 0.00 61 17 21.79 NCR1 0 genome.wustl.edu 37 19 55420623 55420623 + Silent SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 19 55420623 55420623 C A SNP NCR1 ENST00000291890 human ensembl 74_37 +1 known silent c.375 p.T125 0.645 NULL smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 tier1 - - 40 0 0.00 41 11 21.15 95 0 0.00 46 15 24.59 ATP6AP1 0 genome.wustl.edu 37 X 153663637 153663637 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b X 153663637 153663637 G C SNP ATP6AP1 ENST00000369762 human ensembl 74_37 +1 known missense c.989 p.R330P 0.999 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 tier1 - - 45 0 0.00 22 7 24.14 50 0 0.00 35 16 31.37 OR2Y1 0 genome.wustl.edu 37 5 180166694 180166694 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 5 180166694 180166694 C A SNP OR2Y1 ENST00000307832 human ensembl 74_37 -1 known missense c.365 p.R122L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Y1 HGNC ENSG00000174339 tier1 - - 38 0 0.00 11 9 45.00 51 0 0.00 19 19 50.00 UPF3AP2 0 genome.wustl.edu 37 17 20279504 20279504 + R SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 20279504 20279504 G C SNP UPF3AP2 ENST00000578315 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors UPF3AP2 HGNC ENSG00000214832 tier1 - - 39 0 0.00 26 24 48.00 44 0 0.00 22 26 54.17 CEACAM8 0 genome.wustl.edu 37 19 43092964 43092964 + Silent SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 19 43092964 43092964 C T SNP CEACAM8 ENST00000244336 human ensembl 74_37 -1 known silent c.930 p.R310 0.006 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM8 HGNC ENSG00000124469 tier1 rs144424224 - 69 0 0.00 72 23 24.21 81 0 0.00 54 16 22.86 SPATA19 0 genome.wustl.edu 37 11 133714498 133714498 + Missense_Mutation SNP A A G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 133714498 133714498 A G SNP SPATA19 ENST00000299140 human ensembl 74_37 -1 known missense c.173 p.L58P 0.861 NULL NULL - no_errors SPATA19 HGNC ENSG00000166118 tier1 - - 36 0 0.00 14 5 26.32 56 0 0.00 27 9 25.00 HEG1 0 genome.wustl.edu 37 3 124732673 124732673 + Missense_Mutation SNP A A C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 124732673 124732673 A C SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.1750 p.S584A 0.975 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 tier1 - - 51 0 0.00 50 10 16.67 61 0 0.00 40 11 21.57 RIMS2 0 genome.wustl.edu 37 8 104709430 104709430 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 8 104709430 104709430 C G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.293 p.T98R 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 87 0 0.00 81 13 13.83 109 0 0.00 85 14 14.14 FABP4 0 genome.wustl.edu 37 8 82391090 82391090 + R SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 8 82391090 82391090 G A SNP FABP4 ENST00000518669 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FABP4 HGNC ENSG00000170323 tier1 - - 63 0 0.00 30 40 57.14 90 1 1.10 56 47 45.63 IMPDH2 0 genome.wustl.edu 37 3 49064019 49064019 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 49064019 49064019 G C SNP IMPDH2 ENST00000326739 human ensembl 74_37 -1 known missense c.843 p.I281M 0.998 pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,pirsf_IMP_DH,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH - no_errors IMPDH2 HGNC ENSG00000178035 tier1 - - 45 0 0.00 21 25 53.19 73 0 0.00 39 25 39.06 RTDR1 0 genome.wustl.edu 37 22 23404056 23404056 + Missense_Mutation SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 22 23404056 23404056 T C SNP RTDR1 ENST00000216036 human ensembl 74_37 -1 known missense c.721 p.K241E 0.003 pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold - no_errors RTDR1 HGNC ENSG00000100218 tier1 - - 32 0 0.00 35 23 39.66 70 0 0.00 78 11 12.36 LYVE1 0 genome.wustl.edu 37 11 10580737 10580737 + Nonsense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 10580737 10580737 G C SNP LYVE1 ENST00000256178 human ensembl 74_37 -1 known nonsense c.890 p.S297* 0.990 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link - no_errors LYVE1 HGNC ENSG00000133800 tier1 - - 105 0 0.00 72 14 16.28 93 0 0.00 75 19 19.79 IL1RL2 0 genome.wustl.edu 37 2 102818149 102818149 + Missense_Mutation SNP T T A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 2 102818149 102818149 T A SNP IL1RL2 ENST00000264257 human ensembl 74_37 +1 known missense c.623 p.V208D 0.005 smart_Ig_sub,prints_IL-1_rcpt_I/II-typ pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ - no_errors IL1RL2 HGNC ENSG00000115598 tier1 - - 54 0 0.00 47 22 31.88 74 0 0.00 58 8 12.12 MAP2K6 0 genome.wustl.edu 37 17 67522761 67522761 + Missense_Mutation SNP T T G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 67522761 67522761 T G SNP MAP2K6 ENST00000590474 human ensembl 74_37 +1 known missense c.792 p.F264L 0.967 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors MAP2K6 HGNC ENSG00000108984 tier1 - - 49 0 0.00 37 15 28.85 66 1 1.49 64 19 22.89 PADI2 0 genome.wustl.edu 37 1 17413052 17413052 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 17413052 17413052 G T SNP PADI2 ENST00000444885 human ensembl 74_37 -1 known missense c.554 p.S185Y 0.993 NULL pfam_PAD_C,pfam_PAD_N,superfamily_Cupredoxin,superfamily_Prot_Arg_deaminase_cen_dom - no_errors PADI2 HGNC ENSG00000117115 tier1 - - 73 0 0.00 77 21 21.43 65 0 0.00 69 15 17.86 TDH 0 genome.wustl.edu 37 8 11223281 11223281 + R SNP A A T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 8 11223281 11223281 A T SNP TDH ENST00000525246 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TDH HGNC ENSG00000154316 tier1 - - 19 0 0.00 11 5 31.25 100 0 0.00 57 31 34.83 FRMD3 0 genome.wustl.edu 37 9 85905553 85905553 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 85905553 85905553 G A SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known missense c.1160 p.P387L 0.941 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 tier1 - - 60 0 0.00 46 17 26.98 62 0 0.00 38 18 32.14 PEBP1 0 genome.wustl.edu 37 12 118582631 118582631 + R SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 12 118582631 118582631 C G SNP PEBP1 ENST00000542939 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PEBP1 HGNC ENSG00000089220 tier1 - - 23 0 0.00 26 9 25.71 29 0 0.00 11 12 52.17 KIF17 0 genome.wustl.edu 37 1 21014006 21014006 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 21014006 21014006 G T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.1813 p.P605T 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 tier1 - - 31 0 0.00 48 8 14.29 33 0 0.00 38 7 15.56 KCNQ5 0 genome.wustl.edu 37 6 73904739 73904739 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 6 73904739 73904739 G C SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2431 p.D811H 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 55 0 0.00 51 16 23.88 108 0 0.00 76 13 14.44 LRRC38 0 genome.wustl.edu 37 1 13839848 13839848 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 13839848 13839848 C A SNP LRRC38 ENST00000376085 human ensembl 74_37 -1 known missense c.241 p.D81Y 0.998 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC38 HGNC ENSG00000162494 tier1 - - 53 0 0.00 60 19 23.75 36 0 0.00 31 5 13.89 CSMD1 0 genome.wustl.edu 37 8 2800029 2800029 + Missense_Mutation SNP A A C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 8 2800029 2800029 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.10503 p.I3501M 0.711 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 74 0 0.00 42 18 30.00 106 0 0.00 19 19 50.00 NDFIP2 0 genome.wustl.edu 37 13 80125212 80125212 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 13 80125212 80125212 G T SNP NDFIP2 ENST00000218652 human ensembl 74_37 +1 known missense c.968 p.S323I 1.000 pfam_NEDD4/BSD2 pfam_NEDD4/BSD2 - no_errors NDFIP2 HGNC ENSG00000102471 tier1 - - 54 0 0.00 33 11 25.00 80 0 0.00 35 4 10.26 UNCX 0 genome.wustl.edu 37 7 1273220 1273220 + Silent SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 1273220 1273220 C G SNP UNCX ENST00000316333 human ensembl 74_37 +1 known silent c.339 p.T113 0.995 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 tier1 - - 92 0 0.00 130 18 12.16 18 0 0.00 14 2 12.50 CCDC13 0 genome.wustl.edu 37 3 42774443 42774443 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 42774443 42774443 G T SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known missense c.1531 p.H511N 1.000 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 tier1 - - 35 0 0.00 38 8 17.39 32 0 0.00 47 12 20.34 TMEM132C 0 genome.wustl.edu 37 12 129189821 129189821 + Nonsense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 12 129189821 129189821 C T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known nonsense c.2308 p.R770* 0.991 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 34 0 0.00 41 8 16.33 19 0 0.00 17 6 26.09 RPLP0P2 0 genome.wustl.edu 37 11 61404548 61404548 + R SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 61404548 61404548 G T SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 tier1 - - 60 0 0.00 45 12 21.05 35 0 0.00 28 6 17.65 DH6 0 genome.wustl.edu 37 2 85046471 85046471 + Missense_Mutation SNP A A T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 2 85046471 85046471 A T SNP DH6 ENST00000237449 human ensembl 74_37 +1 known missense c.12416 p.K4139M 0.996 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH6 HGNC ENSG00000115423 tier1 - - 57 0 0.00 59 15 20.27 107 0 0.00 107 26 19.55 DKKL1 0 genome.wustl.edu 37 19 49869110 49869110 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 19 49869110 49869110 C G SNP DKKL1 ENST00000221498 human ensembl 74_37 +1 known missense c.385 p.P129A 0.040 NULL NULL - no_errors DKKL1 HGNC ENSG00000104901 tier1 - - 41 0 0.00 56 5 8.20 107 0 0.00 66 16 19.51 GCNT3 0 genome.wustl.edu 37 15 59911070 59911070 + Silent SNP A A G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 15 59911070 59911070 A G SNP GCNT3 ENST00000396065 human ensembl 74_37 +1 known silent c.633 p.E211 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 tier1 - - 50 0 0.00 76 13 14.61 77 0 0.00 132 15 10.20 TRIM69 0 genome.wustl.edu 37 15 45047473 45047473 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 15 45047473 45047473 C A SNP TRIM69 ENST00000329464 human ensembl 74_37 +1 known missense c.382 p.P128T 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors TRIM69 HGNC ENSG00000185880 tier1 - - 48 0 0.00 24 40 62.50 80 0 0.00 43 47 52.22 DMXL1 0 genome.wustl.edu 37 5 118583861 118583861 + R SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 5 118583861 118583861 C G SNP DMXL1 ENST00000505312 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 102 0 0.00 37 25 40.32 34 0 0.00 31 11 26.19 DDX24 0 genome.wustl.edu 37 14 94521472 94521472 + Missense_Mutation SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 14 94521472 94521472 T C SNP DDX24 ENST00000330836 human ensembl 74_37 -1 known missense c.2048 p.N683S 0.854 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX24 HGNC ENSG00000089737 tier1 - - 38 0 0.00 35 20 36.36 85 0 0.00 23 26 53.06 KIAA1462 0 genome.wustl.edu 37 10 30316575 30316575 + Silent SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 10 30316575 30316575 C T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known silent c.2502 p.Q834 0.997 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 tier1 - - 39 0 0.00 40 4 9.09 77 0 0.00 72 26 26.26 TAF1L 0 genome.wustl.edu 37 9 32632751 32632751 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 32632751 32632751 C A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.2827 p.D943Y 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 69 0 0.00 26 22 45.83 49 0 0.00 17 11 39.29 PLA2G2D 0 genome.wustl.edu 37 1 20442883 20442883 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 20442883 20442883 G C SNP PLA2G2D ENST00000375105 human ensembl 74_37 -1 known missense c.128 p.P43R 0.003 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2D HGNC ENSG00000117215 tier1 - - 79 0 0.00 93 20 17.70 93 0 0.00 96 21 17.95 ST8SIA3 0 genome.wustl.edu 37 18 55024254 55024254 + Missense_Mutation SNP T T A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 18 55024254 55024254 T A SNP ST8SIA3 ENST00000324000 human ensembl 74_37 +1 known missense c.413 p.F138Y 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 tier1 - - 40 0 0.00 18 21 53.85 83 0 0.00 33 23 41.07 AKAP9 0 genome.wustl.edu 37 7 91694631 91694631 + Nonsense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 91694631 91694631 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known nonsense c.6100 p.Q2034* 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 99 0 0.00 40 36 46.75 120 1 0.83 71 28 28.28 CSF3R 0 genome.wustl.edu 37 1 36945109 36945109 + R SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 36945109 36945109 G C SNP CSF3R ENST00000526980 human ensembl 74_37 -1 known rna NULL NULL 0.035 - - - no_errors CSF3R HGNC ENSG00000119535 tier1 - - 36 0 0.00 33 5 13.16 102 0 0.00 121 16 11.68 STAB1 0 genome.wustl.edu 37 3 52535687 52535687 + Silent SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 52535687 52535687 C A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.249 p.S83 0.014 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 55 0 0.00 38 46 54.76 28 0 0.00 22 11 32.35 PLCH1 0 genome.wustl.edu 37 3 155198794 155198794 + Missense_Mutation SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 155198794 155198794 T C SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.5045 p.D1682G 0.842 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 tier1 - - 76 0 0.00 33 44 57.14 92 0 0.00 34 64 64.65 RAPSN 0 genome.wustl.edu 37 11 47460330 47460330 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 47460330 47460330 C T SNP RAPSN ENST00000524487 human ensembl 74_37 -1 novel missense c.967 p.E323K 0.994 NULL pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Postsynaptic - no_errors RAPSN HGNC ENSG00000165917 tier1 - - 93 0 0.00 131 31 19.14 19 0 0.00 22 3 12.00 STAT1 0 genome.wustl.edu 37 2 191848465 191848465 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 2 191848465 191848465 G A SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.1349 p.T450M 1.000 pfam_STAT_TF_D-bd,superfamily_p53-like_TF_D-bd pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 tier1 - - 33 0 0.00 24 14 36.84 87 0 0.00 47 23 32.86 EMP2 0 genome.wustl.edu 37 16 10626829 10626829 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 16 10626829 10626829 G T SNP EMP2 ENST00000359543 human ensembl 74_37 -1 known missense c.437 p.A146E 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20 pfam_PMP22/EMP/MP20/Claudin,prints_EMP_2,prints_PMP22_EMP_MP20 - no_errors EMP2 HGNC ENSG00000213853 tier1 - - 35 0 0.00 21 9 30.00 41 0 0.00 24 20 45.45 EEF1DP3 0 genome.wustl.edu 37 13 32526746 32526746 + R SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 13 32526746 32526746 G T SNP EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EEF1DP3 HGNC ENSG00000229715 tier1 - - 33 0 0.00 17 8 32.00 39 0 0.00 10 3 23.08 MED13L 0 genome.wustl.edu 37 12 116408418 116408418 + Silent SNP A A G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 12 116408418 116408418 A G SNP MED13L ENST00000281928 human ensembl 74_37 -1 known silent c.6048 p.D2016 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 50 0 0.00 42 12 22.22 124 0 0.00 75 11 12.79 MUC5B 0 genome.wustl.edu 37 11 1280258 1280258 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 1280258 1280258 G C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.16689 p.Q5563H 0.005 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 82 0 0.00 83 29 25.89 74 0 0.00 63 8 11.27 DLEC1 0 genome.wustl.edu 37 3 38104286 38104286 + Missense_Mutation SNP A A T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 38104286 38104286 A T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.1088 p.E363V 0.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 32 0 0.00 47 32 40.51 74 0 0.00 83 56 40.29 MSLN 0 genome.wustl.edu 37 16 816491 816491 + Splice_Site SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 16 816491 816491 G C SNP MSLN ENST00000382862 human ensembl 74_37 +1 known splice_site c.1230+1 e11+1 0.448 - - - no_errors MSLN HGNC ENSG00000102854 tier1 - - 41 0 0.00 35 23 39.66 88 0 0.00 36 15 29.41 SCGB2A2 0 genome.wustl.edu 37 11 62038380 62038380 + Missense_Mutation SNP T T G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 62038380 62038380 T G SNP SCGB2A2 ENST00000227918 human ensembl 74_37 +1 known missense c.83 p.V28G 0.000 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB2A2 HGNC ENSG00000110484 tier1 - - 35 0 0.00 45 14 23.33 88 0 0.00 101 14 12.17 MTHFR 0 genome.wustl.edu 37 1 11854057 11854057 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 11854057 11854057 G C SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known missense c.1560 p.I520M 1.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 tier1 - - 34 0 0.00 43 21 32.81 37 0 0.00 28 19 40.43 MAP3K5 0 genome.wustl.edu 37 6 137018523 137018523 + Missense_Mutation SNP T T A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 6 137018523 137018523 T A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.809 p.Q270L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 81 0 0.00 42 13 23.64 139 0 0.00 89 28 23.93 F5 0 genome.wustl.edu 37 1 169529886 169529886 + Silent SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 169529886 169529886 G A SNP F5 ENST00000367797 human ensembl 74_37 -1 known silent c.492 p.D164 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 tier1 - - 64 0 0.00 28 37 56.92 82 0 0.00 28 43 60.56 FCRL6 0 genome.wustl.edu 37 1 159785345 159785345 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 159785345 159785345 C T SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.1199 p.A400V 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 tier1 rs149132393 - 18 0 0.00 28 10 26.32 71 0 0.00 37 17 31.48 CCNF 0 genome.wustl.edu 37 16 2505464 2505464 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 16 2505464 2505464 G T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.1784 p.S595I 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 tier1 - - 58 0 0.00 54 16 22.86 51 0 0.00 19 11 36.67 TAF2 0 genome.wustl.edu 37 8 120756584 120756584 + Missense_Mutation SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 8 120756584 120756584 T C SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known missense c.3158 p.D1053G 1.000 NULL pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 tier1 - - 53 0 0.00 36 5 12.20 105 0 0.00 74 28 27.18 SPNS1 0 genome.wustl.edu 37 16 28986111 28986111 + Missense_Mutation SNP T T G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 16 28986111 28986111 T G SNP SPNS1 ENST00000565975 human ensembl 74_37 +1 putative missense c.11 p.F4C 0.010 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 tier1 - - 20 0 0.00 8 8 50.00 18 0 0.00 11 4 26.67 CPNE4 0 genome.wustl.edu 37 3 131300489 131300489 + Missense_Mutation SNP A A T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 131300489 131300489 A T SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.855 p.N285K 0.884 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 tier1 - - 47 0 0.00 41 15 26.79 95 0 0.00 63 12 16.00 CDH4 0 genome.wustl.edu 37 20 60508134 60508134 + Silent SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 20 60508134 60508134 C A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.2331 p.R777 0.053 pfam_Cadherin_cytoplasmic-dom,prints_Cadherin/Desmocollin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 23 0 0.00 60 11 15.49 44 0 0.00 48 7 12.73 FOXP3 0 genome.wustl.edu 37 X 49107859 49107859 + Missense_Mutation SNP A A G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b X 49107859 49107859 A G SNP FOXP3 ENST00000376207 human ensembl 74_37 -1 known missense c.1232 p.L411P 0.979 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP3 HGNC ENSG00000049768 tier1 - - 24 0 0.00 10 10 50.00 80 0 0.00 32 16 33.33 KLHL11 0 genome.wustl.edu 37 17 40011503 40011503 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 40011503 40011503 C T SNP KLHL11 ENST00000319121 human ensembl 74_37 -1 known missense c.616 p.V206M 1.000 pfam_BACK,smart_BACK pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC ENSG00000178502 tier1 - - 84 0 0.00 68 22 24.44 106 0 0.00 83 25 23.15 CTPS2 0 genome.wustl.edu 37 X 16609020 16609020 + R DEL A A - TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b X 16609020 16609020 A - DEL CTPS2 ENST00000483053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTPS2 HGNC ENSG00000047230 tier1 53 0 0.00 26 9 25.71 106 1 0.93 64 17 20.99 ATRX 0 genome.wustl.edu 37 X 76814269 76814272 + Frame_Shift_Del DEL ATTA ATTA - TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 ATTA ATTA ATTA - ATTA ATTA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b X 76814269 76814272 ATTA - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.6375_6372 p.N2125fs 1.000:1.000:1.000:1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 329 0 0.00 155 89 36.48 114 0 0.00 44 20 31.25 C10orf90 0 genome.wustl.edu 37 10 128193333 128193333 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 10 128193333 128193333 G A SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.727 p.R243C 0.983 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 tier1 - - 41 0 0.00 13 16 55.17 10 0 0.00 5 10 66.67 CDKN2A 0 genome.wustl.edu 37 9 21974782 21974782 + Nonsense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 21974782 21974782 C T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known nonsense c.45 p.W15* 0.045 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 rs138677674 - 23 0 0.00 6 5 45.45 6 0 0.00 6 5 45.45 GLIS1 0 genome.wustl.edu 37 1 53986384 53986384 + Missense_Mutation SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 53986384 53986384 T C SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.1124 p.Q375R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 tier1 - - 42 0 0.00 38 23 37.70 11 0 0.00 5 4 44.44 IF14 0 genome.wustl.edu 37 9 21239675 21239675 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 21239675 21239675 G A SNP IF14 ENST00000380222 human ensembl 74_37 -1 known missense c.260 p.T87I 0.178 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IF14 HGNC ENSG00000228083 tier1 - - 125 0 0.00 48 35 42.17 17 0 0.00 3 4 57.14 MRGPRE 0 genome.wustl.edu 37 11 3249728 3249728 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 3249728 3249728 G C SNP MRGPRE ENST00000389832 human ensembl 74_37 -1 known missense c.302 p.T101R 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRE HGNC ENSG00000184350 tier1 - - 19 0 0.00 25 7 21.88 17 0 0.00 1 4 80.00 OR5H14 0 genome.wustl.edu 37 3 97868995 97868995 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 97868995 97868995 G T SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.766 p.A256S 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 tier1 - - 47 0 0.00 14 11 44.00 14 0 0.00 2 2 50.00 PLEKHG4 0 genome.wustl.edu 37 16 67315959 67315959 + Silent SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 16 67315959 67315959 C G SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known silent c.1053 p.L351 0.972 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 tier1 - - 55 0 0.00 21 32 60.38 26 0 0.00 7 6 46.15 REPIN1 0 genome.wustl.edu 37 7 150068731 150068731 + Missense_Mutation SNP A A G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 150068731 150068731 A G SNP REPIN1 ENST00000489432 human ensembl 74_37 +1 known missense c.572 p.H191R 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 tier1 - - 25 0 0.00 18 4 18.18 22 0 0.00 6 2 25.00 USH1G 0 genome.wustl.edu 37 17 72916165 72916165 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 72916165 72916165 C A SNP USH1G ENST00000319642 human ensembl 74_37 -1 known missense c.766 p.V256L 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 tier1 - - 48 0 0.00 35 14 28.57 9 0 0.00 7 3 30.00 WDTC1 0 genome.wustl.edu 37 1 27632840 27632840 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 27632840 27632840 G C SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.2000 p.S667T 1.000 NULL 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 tier1 - - 43 0 0.00 22 10 31.25 21 0 0.00 7 6 46.15 SCN11A 0 genome.wustl.edu 37 3 38991680 38991680 + Silent SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 3 38991680 38991680 G T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.174 p.A58 0.427 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 52 0 0.00 68 8 10.53 84 0 0.00 94 10 9.62 ALAD2 0 genome.wustl.edu 37 11 89924884 89924884 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 89924884 89924884 C T SNP ALAD2 ENST00000534061 human ensembl 74_37 +1 known missense c.2192 p.A731V 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors ALAD2 HGNC ENSG00000077616 tier1 - - 100 0 0.00 115 18 13.53 76 0 0.00 84 6 6.67 ANKDD1A 0 genome.wustl.edu 37 15 65219154 65219154 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 15 65219154 65219154 G A SNP ANKDD1A ENST00000380230 human ensembl 74_37 +1 known missense c.526 p.D176N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 tier1 - - 23 0 0.00 36 10 21.74 87 1 1.12 97 8 7.62 FANCC 0 genome.wustl.edu 37 9 97869348 97869348 + Silent SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 97869348 97869348 C A SNP FANCC ENST00000289081 human ensembl 74_37 -1 known silent c.1533 p.L511 0.012 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 tier1 - - 43 0 0.00 42 7 14.29 79 0 0.00 110 10 8.33 RAB2A 0 genome.wustl.edu 37 8 61504448 61504448 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 8 61504448 61504448 G C SNP RAB2A ENST00000262646 human ensembl 74_37 +1 known missense c.394 p.E132Q 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2A HGNC ENSG00000104388 tier1 - - 97 0 0.00 107 16 13.01 101 0 0.00 92 4 4.17 FANCC 0 genome.wustl.edu 37 9 97869347 97869347 + Splice_Site SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 97869347 97869347 C A SNP FANCC ENST00000289081 human ensembl 74_37 -1 known splice_site c.1533+1 e13+1 0.986 - - - no_errors FANCC HGNC ENSG00000158169 tier1 - - 43 0 0.00 40 7 14.89 80 0 0.00 111 10 8.26 SEL1L2 0 genome.wustl.edu 37 20 13866984 13866984 + Missense_Mutation SNP T T A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 20 13866984 13866984 T A SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known missense c.850 p.I284L 0.999 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 tier1 - - 87 0 0.00 95 26 21.49 110 0 0.00 85 7 7.53 OPTN 0 genome.wustl.edu 37 10 13167497 13167509 + Frame_Shift_Del DEL AAGTTAGAGCTAC AAGTTAGAGCTAC - TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 AAGTTAGAGCTAC AAGTTAGAGCTAC AAGTTAGAGCTAC - AAGTTAGAGCTAC AAGTTAGAGCTAC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 10 13167497 13167509 AAGTTAGAGCTAC - DEL OPTN ENST00000263036 human ensembl 74_37 +1 known frame_shift_del c.1078_1090 p.L361fs 1.000:1.000:0.992:0.988:0.993:0.972:0.993:0.990:0.757:0.989:0.963:0.467:0.997 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 tier1 78 0 0.00 102 4 3.77 78 0 0.00 102 4 3.77 BOD1L1 0 genome.wustl.edu 37 4 13588085 13588096 + In_Frame_Del DEL CATCTGGATTAT CATCTGGATTAT - TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 CATCTGGATTAT CATCTGGATTAT CATCTGGATTAT - CATCTGGATTAT CATCTGGATTAT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 4 13588085 13588096 CATCTGGATTAT - DEL BOD1L1 ENST00000040738 human ensembl 74_37 -1 known in_frame_del c.8368_8357 p.DNPD2786in_frame_del 0.874:0.813:0.646:0.614:0.411:0.357:0.328:0.277:0.287:0.568:0.656:0.960 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 68 0 0.00 44 4 8.33 68 0 0.00 44 4 8.33 BTBD17 0 genome.wustl.edu 37 17 72352937 72352937 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 72352937 72352937 G C SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known missense c.1296 p.H432Q 1.000 NULL pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 tier1 - - 41 0 0.00 17 9 34.62 7 0 0.00 1 0 0.00 LOC399829 0 genome.wustl.edu 37 10 134787952 134787952 + R SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 10 134787952 134787952 C A SNP LOC399829 ENST00000461291 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP13-137A17.6 Clone_based_vega_gene ENSG00000240707 tier1 - - 17 0 0.00 7 13 65.00 20 0 0.00 3 1 25.00 MYH7B 0 genome.wustl.edu 37 20 33582077 33582077 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 20 33582077 33582077 C G SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.2699 p.A900G 0.082 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tR-bd_arm,superfamily_t-SRE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 28 0 0.00 39 10 20.41 8 0 0.00 5 1 16.67 RASSF7 0 genome.wustl.edu 37 11 562471 562471 + Missense_Mutation SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 11 562471 562471 G A SNP RASSF7 ENST00000344375 human ensembl 74_37 +1 known missense c.517 p.A173T 0.991 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC ENSG00000099849 tier1 - - 39 0 0.00 32 11 25.58 9 0 0.00 7 1 12.50 VAT1L 0 genome.wustl.edu 37 16 77822609 77822609 + Silent SNP G G A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 16 77822609 77822609 G A SNP VAT1L ENST00000302536 human ensembl 74_37 +1 known silent c.30 p.E10 1.000 NULL pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 tier1 - - 32 0 0.00 18 21 53.85 14 0 0.00 8 1 11.11 FAM182B 0 genome.wustl.edu 37 20 25848664 25848664 + Splice_Site SNP T T A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 20 25848664 25848664 T A SNP FAM182B ENST00000582267 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.024 - - - no_errors FAM182B HGNC ENSG00000175170 tier1 - - 62 0 0.00 75 10 11.76 0 0 0.00 2 0 0.00 FAM74A3 0 genome.wustl.edu 37 9 40716018 40716018 + R SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 40716018 40716018 G T SNP FAM74A3 ENST00000355345 human ensembl 74_37 +1 known rna NULL NULL 0.650 - - - no_errors FAM74A3 HGNC ENSG00000204844 tier1 - - 312 1 0.32 344 48 12.24 0 0 0.00 0 0 0.00 FGF9 0 genome.wustl.edu 37 13 22275847 22275848 + R DEL TA TA - TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 13 22275847 22275848 TA - DEL FGF9 ENST00000478546 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors FGF9 HGNC ENSG00000102678 tier1 13 0 0.00 12 5 29.41 0 0 0.00 0 0 0.00 HSD17B7 0 genome.wustl.edu 37 1 162782284 162782284 + R SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 1 162782284 162782284 G C SNP HSD17B7 ENST00000485405 human ensembl 74_37 +1 known rna NULL NULL 0.112 - - - no_errors HSD17B7 HGNC ENSG00000132196 tier1 - - 22 0 0.00 18 6 25.00 0 0 0.00 0 0 0.00 LOC101929948 0 genome.wustl.edu 37 14 19563586 19563586 + R SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 14 19563586 19563586 T C SNP LOC101929948 ENST00000548748 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258252 tier1 - - 178 0 0.00 109 43 28.29 1 0 0.00 0 0 0.00 PSG1 0 genome.wustl.edu 37 19 43382272 43382272 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 19 43382272 43382272 G T SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.223 p.L75I 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 191 0 0.00 125 38 23.31 0 0 0.00 0 0 0.00 FAM57A 0 genome.wustl.edu 37 17 636266 636267 + Frame_Shift_Ins INS - - GGGCC TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 636266 636267 - GGGCC INS FAM57A ENST00000574327 human ensembl 74_37 +1 known frame_shift_ins c.379_380 p.P131fs 0.000:0.000 NULL NULL - no_errors FAM57A HGNC ENSG00000167695 tier1 0 0 0.00 1 2 66.67 0 0 0.00 1 2 66.67 NOTCH3 0 genome.wustl.edu 37 19 15271749 15271749 + Silent SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 19 15271749 15271749 G T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.6690 p.P2230 0.678 pirsf_Notch,pfam_DUF3454_notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 23 0 0.00 16 5 23.81 3 0 0.00 1 2 66.67 TRPV3 0 genome.wustl.edu 37 17 3447913 3447913 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 17 3447913 3447913 C T SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.271 p.D91N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 tier1 - - 60 0 0.00 70 14 16.47 28 0 0.00 21 2 8.70 SDR9C7 0 genome.wustl.edu 37 12 57317653 57317653 + Silent SNP T T C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 12 57317653 57317653 T C SNP SDR9C7 ENST00000293502 human ensembl 74_37 -1 known silent c.906 p.L302 0.010 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC ENSG00000170426 tier1 - - 54 0 0.00 50 5 9.09 105 0 0.00 79 3 3.66 KIAA1549 0 genome.wustl.edu 37 7 138566134 138566134 + Missense_Mutation SNP C C G TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 138566134 138566134 C G SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.4229 p.R1410T 1.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 56 0 0.00 60 8 11.76 85 0 0.00 61 3 4.69 ZNF491 0 genome.wustl.edu 37 19 11916909 11916909 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 19 11916909 11916909 G T SNP ZNF491 ENST00000323169 human ensembl 74_37 +1 known missense c.141 p.M47I 0.001 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 tier1 - - 27 0 0.00 15 3 16.67 79 0 0.00 65 2 2.99 PALM2-AKAP2 0 genome.wustl.edu 37 9 112694185 112694206 + Splice_Site DEL ATTCCCTGTTCTCTGCTACCAG ATTCCCTGTTCTCTGCTACCAG - TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 ATTCCCTGTTCTCTGCTACCAG ATTCCCTGTTCTCTGCTACCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 9 112694185 112694206 ATTCCCTGTTCTCTGCTACCAG - DEL PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known splice_site_del c.395-22_395-1 e6-1 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 89 0 0.00 69 3 4.17 89 0 0.00 69 3 4.17 KIAA1549 0 genome.wustl.edu 37 7 138566128 138566133 + Splice_Site DEL AATAAC AATAAC - TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 AATAAC AATAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7a22ef-8718-40eb-a310-51aa9a7cac0f c2643ccc-1642-43f0-932f-2ec47a0d943b 7 138566128 138566133 AATAAC - DEL KIAA1549 ENST00000422774 human ensembl 74_37 -1 known splice_site_del c.4229+1_4229+1 e11+1 0.001:0.001:0.002:0.036:0.994:1.000 - - - no_errors KIAA1549 HGNC ENSG00000122778 tier1 87 0 0.00 62 3 4.62 87 0 0.00 62 3 4.62