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 TNPO3 0 genome.wustl.edu 37 7 128619088 128619088 + Silent SNP A A C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 7 128619088 128619088 A C SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known silent c.2112 p.V704 0.991 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 tier1 - - 41 0 0.00 34 5 12.82 49 0 0.00 43 21 32.81 CXorf27 0 genome.wustl.edu 37 X 37850229 37850229 + Missense_Mutation SNP G G T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 X 37850229 37850229 G T SNP CXorf27 ENST00000341016 human ensembl 74_37 +1 known missense c.137 p.S46I 0.000 superfamily_Histone-fold superfamily_Histone-fold - no_errors CXorf27 HGNC ENSG00000187516 tier1 - - 19 0 0.00 71 15 17.24 59 0 0.00 263 44 14.33 CD63 0 genome.wustl.edu 37 12 56120701 56120701 + Missense_Mutation SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 12 56120701 56120701 G A SNP CD63 ENST00000550050 human ensembl 74_37 -1 known missense c.302 p.P101L 1.000 NULL pfam_Tetraspanin/Peripherin,prints_Tetraspanin - no_errors CD63 HGNC ENSG00000135404 tier1 - - 40 0 0.00 20 13 39.39 74 0 0.00 32 33 50.77 POLR3C 0 genome.wustl.edu 37 1 145594902 145594902 + R SNP G G T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 145594902 145594902 G T SNP POLR3C ENST00000489436 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors POLR3C HGNC ENSG00000186141 tier1 - - 18 0 0.00 52 17 24.64 89 0 0.00 232 30 11.45 SYNE1 0 genome.wustl.edu 37 6 152466656 152466656 + Silent SNP T T C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 6 152466656 152466656 T C SNP SYNE1 ENST00000423061 human ensembl 74_37 -1 known silent c.24798 p.V8266 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 72 0 0.00 20 10 33.33 101 0 0.00 51 52 50.49 TP53BP1 0 genome.wustl.edu 37 15 43739389 43739389 + R SNP A A G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 15 43739389 43739389 A G SNP TP53BP1 ENST00000414758 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TP53BP1 HGNC ENSG00000067369 tier1 - - 14 0 0.00 9 6 40.00 109 0 0.00 57 29 33.72 ENSG00000271959 0 genome.wustl.edu 37 8 142445804 142445804 + R SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 8 142445804 142445804 C T SNP ENSG00000271959 ENST00000606664 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3064M3.7 Clone_based_vega_gene ENSG00000271959 tier1 - - 36 0 0.00 51 10 16.39 16 0 0.00 27 4 12.90 TP53TG3D 0 genome.wustl.edu 37 16 32265770 32265770 + Silent SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 16 32265770 32265770 C T SNP TP53TG3D ENST00000563025 human ensembl 74_37 +1 known silent c.294 p.C98 0.026 NULL NULL - no_errors TP53TG3D HGNC ENSG00000205456 tier1 - - 210 0 0.00 41 40 49.38 65 0 0.00 21 11 34.38 TCHHL1 0 genome.wustl.edu 37 1 152059914 152059914 + Missense_Mutation SNP T T A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 152059914 152059914 T A SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.244 p.N82Y 0.974 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 83 0 0.00 134 15 10.07 63 0 0.00 204 33 13.92 SEMA5A 0 genome.wustl.edu 37 5 9054348 9054348 + Missense_Mutation SNP C C A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 5 9054348 9054348 C A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.2540 p.W847L 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 tier1 - - 34 0 0.00 18 8 30.77 125 0 0.00 46 39 45.88 SULT2A1 0 genome.wustl.edu 37 19 48386833 48386833 + Splice_Site SNP C C A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 19 48386833 48386833 C A SNP SULT2A1 ENST00000222002 human ensembl 74_37 -1 known splice_site c.345+1 e2+1 1.000 - - - no_errors SULT2A1 HGNC ENSG00000105398 tier1 - - 83 0 0.00 35 24 40.68 73 0 0.00 115 32 21.77 SLC32A1 0 genome.wustl.edu 37 20 37356949 37356949 + Silent SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 20 37356949 37356949 C T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.1245 p.R415 0.998 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 tier1 - - 76 0 0.00 41 20 32.79 21 0 0.00 12 10 45.45 IGF2R 0 genome.wustl.edu 37 6 160482875 160482875 + Missense_Mutation SNP C C G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 6 160482875 160482875 C G SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.3497 p.S1166C 0.921 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 - - 100 0 0.00 31 27 46.55 82 0 0.00 40 21 34.43 SLIT3 0 genome.wustl.edu 37 5 168151482 168151482 + Missense_Mutation SNP C C G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 5 168151482 168151482 C G SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.2278 p.E760Q 1.000 NULL pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 58 0 0.00 29 17 36.96 101 0 0.00 31 33 51.56 MATK 0 genome.wustl.edu 37 19 3779407 3779407 + Missense_Mutation SNP C C A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 19 3779407 3779407 C A SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.973 p.V325L 0.769 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_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 tier1 - - 46 0 0.00 7 9 56.25 38 0 0.00 24 29 52.73 VSTM2L 0 genome.wustl.edu 37 20 36561976 36561976 + Missense_Mutation SNP G G C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 20 36561976 36561976 G C SNP VSTM2L ENST00000373461 human ensembl 74_37 +1 known missense c.327 p.E109D 0.962 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2L HGNC ENSG00000132821 tier1 - - 23 0 0.00 11 11 50.00 76 0 0.00 80 29 26.61 CAMTA1 0 genome.wustl.edu 37 1 7805021 7805021 + Missense_Mutation SNP A A G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 7805021 7805021 A G SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.4309 p.M1437V 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 49 0 0.00 13 12 48.00 72 0 0.00 30 35 53.85 ADORA3 0 genome.wustl.edu 37 1 112045735 112045735 + Missense_Mutation SNP T T C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 112045735 112045735 T C SNP ADORA3 ENST00000369716 human ensembl 74_37 -1 known missense c.242 p.Y81C 0.992 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_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 tier1 - - 74 0 0.00 24 5 17.24 113 0 0.00 65 17 20.73 MCM5 0 genome.wustl.edu 37 22 35804413 35804413 + Silent SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 22 35804413 35804413 G A SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known silent c.609 p.G203 0.971 superfamily_-bd_OB-fold,smart_MCM_D-dep_ATPase pfam_MCM_D-dep_ATPase,superfamily_-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_D-dep_ATPase,pfscan_MCM_D-dep_ATPase,prints_MCM5,prints_MCM_D-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 tier1 - - 109 0 0.00 62 30 32.61 100 0 0.00 92 35 27.56 MUC5B 0 genome.wustl.edu 37 11 1271465 1271465 + Missense_Mutation SNP A A G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 11 1271465 1271465 A G SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.13364 p.E4455G 0.000 NULL 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 - - 123 0 0.00 34 26 42.62 13 0 0.00 10 10 50.00 BPIFB4 0 genome.wustl.edu 37 20 31671211 31671211 + Nonsense_Mutation SNP G G T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 20 31671211 31671211 G T SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known nonsense c.208 p.G70* 0.470 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 tier1 - - 46 0 0.00 29 9 23.68 81 0 0.00 82 33 28.70 OR51B6 0 genome.wustl.edu 37 11 5372976 5372976 + Missense_Mutation SNP T T A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 11 5372976 5372976 T A SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.239 p.L80Q 0.168 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 - no_errors OR51B6 HGNC ENSG00000176239 tier1 - - 88 0 0.00 23 26 53.06 86 0 0.00 33 38 53.52 POLD1 0 genome.wustl.edu 37 19 50909545 50909545 + Missense_Mutation SNP G G C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 19 50909545 50909545 G C SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.1349 p.S450T 1.000 pfam_D-dir_D_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B pfam_D-dir_D_pol_B_multi_dom,pfam_D-dir_D_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B,prints_D-dir_D_pol_B,tigrfam_D-dir_D_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 tier1 - - 123 0 0.00 71 14 16.47 28 0 0.00 17 2 10.53 SLFN5 0 genome.wustl.edu 37 17 33592430 33592430 + Silent SNP T T G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 17 33592430 33592430 T G SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known silent c.2199 p.P733 0.037 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 tier1 - - 80 0 0.00 32 7 17.95 167 0 0.00 67 63 48.46 KCNK4 0 genome.wustl.edu 37 11 64064689 64064689 + Missense_Mutation SNP G G T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 11 64064689 64064689 G T SNP KCNK4 ENST00000394525 human ensembl 74_37 +1 known missense c.412 p.V138F 1.000 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK4 HGNC ENSG00000182450 tier1 - - 55 0 0.00 19 11 36.67 43 0 0.00 15 13 46.43 FAM47A 0 genome.wustl.edu 37 X 34149685 34149685 + Silent SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 X 34149685 34149685 C T SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.711 p.P237 0.109 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 - - 97 0 0.00 83 93 52.84 15 0 0.00 35 40 53.33 CTCFL 0 genome.wustl.edu 37 20 56073701 56073701 + Missense_Mutation SNP A A T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 20 56073701 56073701 A T SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.1897 p.F633I 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 tier1 - - 59 0 0.00 36 15 29.41 102 1 0.97 97 27 21.77 FADS2 0 genome.wustl.edu 37 11 61615735 61615735 + Silent SNP G G C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 11 61615735 61615735 G C SNP FADS2 ENST00000278840 human ensembl 74_37 +1 known silent c.723 p.L241 0.997 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS2 HGNC ENSG00000134824 tier1 - - 111 0 0.00 31 15 32.61 62 0 0.00 33 20 37.74 BAZ2A 0 genome.wustl.edu 37 12 57011222 57011222 + Silent SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 12 57011222 57011222 G A SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known silent c.99 p.L33 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,smart_Methyl_CpG_D-bd,smart_AT_hook_D-bd_motif,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 BAZ2A HGNC ENSG00000076108 tier1 - - 71 0 0.00 21 14 40.00 107 0 0.00 45 42 48.28 KDM6B 0 genome.wustl.edu 37 17 7752697 7752697 + Missense_Mutation SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 17 7752697 7752697 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.3091 p.R1031C 0.933 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 tier1 - - 59 0 0.00 41 34 45.33 26 0 0.00 36 27 42.19 DCT 0 genome.wustl.edu 37 13 95121205 95121205 + Missense_Mutation SNP G G C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 13 95121205 95121205 G C SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.390 p.I130M 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 tier1 - - 63 0 0.00 46 17 26.98 99 0 0.00 79 28 26.17 ENSG00000265289 0 genome.wustl.edu 37 17 28386420 28386420 + R SNP C C A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 17 28386420 28386420 C A SNP ENSG00000265289 ENST00000583250 human ensembl 74_37 -1 known rna NULL NULL 0.050 - - - no_errors AC104984.4 Clone_based_vega_gene ENSG00000265289 tier1 - - 19 0 0.00 2 6 75.00 72 0 0.00 29 16 35.56 COL14A1 0 genome.wustl.edu 37 8 121293244 121293244 + Missense_Mutation SNP A A G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 8 121293244 121293244 A G SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.3770 p.N1257S 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 rs115441480 - 90 0 0.00 65 10 13.33 139 0 0.00 206 29 12.29 GPER1 0 genome.wustl.edu 37 7 1132439 1132439 + Missense_Mutation SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 7 1132439 1132439 G A SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.1075 p.V359I 0.009 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 tier1 - - 74 0 0.00 62 11 15.07 42 0 0.00 67 9 11.84 PNLDC1 0 genome.wustl.edu 37 6 160238167 160238167 + Silent SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 6 160238167 160238167 C T SNP PNLDC1 ENST00000610273 human ensembl 74_37 +1 known silent c.1108 p.L370 0.886 superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 tier1 - - 106 0 0.00 78 27 25.71 85 0 0.00 83 35 29.66 GPR31 0 genome.wustl.edu 37 6 167571125 167571125 + Silent SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 6 167571125 167571125 C T SNP GPR31 ENST00000366834 human ensembl 74_37 -1 known silent c.195 p.A65 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR31 HGNC ENSG00000120436 tier1 - - 57 0 0.00 18 11 37.93 49 0 0.00 23 12 34.29 ACAD10 0 genome.wustl.edu 37 12 112174704 112174704 + Missense_Mutation SNP T T A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 12 112174704 112174704 T A SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.1703 p.L568H 0.000 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 tier1 - - 52 0 0.00 15 23 60.53 111 0 0.00 42 39 48.15 RIMS2 0 genome.wustl.edu 37 8 104933942 104933942 + Missense_Mutation SNP T T G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 8 104933942 104933942 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2126 p.I709S 1.000 NULL 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 - - 134 0 0.00 63 88 58.28 126 0 0.00 91 124 57.67 GLI1 0 genome.wustl.edu 37 12 57865299 57865299 + Nonsense_Mutation SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 12 57865299 57865299 C T SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known nonsense c.2776 p.Q926* 0.967 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 - - 23 0 0.00 4 9 69.23 90 0 0.00 36 17 32.08 BRD1 0 genome.wustl.edu 37 22 50181108 50181108 + Missense_Mutation SNP C C G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 22 50181108 50181108 C G SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.2394 p.R798S 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 tier1 - - 51 0 0.00 32 16 33.33 59 0 0.00 88 24 21.43 MED12L 0 genome.wustl.edu 37 3 151075070 151075070 + Missense_Mutation SNP A A G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 3 151075070 151075070 A G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.2626 p.T876A 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 142 0 0.00 34 60 63.83 102 0 0.00 22 75 77.32 ANKRD40 0 genome.wustl.edu 37 17 48776876 48776876 + Missense_Mutation SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 17 48776876 48776876 G A SNP ANKRD40 ENST00000285243 human ensembl 74_37 -1 known missense c.662 p.S221F 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 tier1 - - 135 0 0.00 42 22 34.38 87 0 0.00 55 31 36.05 SORCS3 0 genome.wustl.edu 37 10 106917026 106917026 + Missense_Mutation SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 10 106917026 106917026 C T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.1613 p.P538L 0.954 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 47 0 0.00 15 4 21.05 71 0 0.00 28 6 17.65 UBXN1 0 genome.wustl.edu 37 11 62445877 62445877 + Missense_Mutation SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 11 62445877 62445877 G A SNP UBXN1 ENST00000294119 human ensembl 74_37 -1 known missense c.224 p.S75F 0.018 NULL pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC ENSG00000162191 tier1 - - 83 0 0.00 61 19 23.75 101 0 0.00 95 56 37.09 DDC 0 genome.wustl.edu 37 7 50607642 50607642 + Missense_Mutation SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 7 50607642 50607642 C T SNP DDC ENST00000357936 human ensembl 74_37 -1 known missense c.286 p.G96R 0.998 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 tier1 - - 62 0 0.00 23 15 39.47 21 0 0.00 28 9 24.32 HCK 0 genome.wustl.edu 37 20 30659487 30659487 + Missense_Mutation SNP T T C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 20 30659487 30659487 T C SNP HCK ENST00000375852 human ensembl 74_37 +1 known missense c.85 p.F29L 0.992 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 tier1 - - 118 0 0.00 65 25 27.78 69 0 0.00 81 21 20.59 PIK3R4 0 genome.wustl.edu 37 3 130454733 130454733 + Missense_Mutation SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 3 130454733 130454733 C T SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known missense c.847 p.D283N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 tier1 - - 59 0 0.00 45 17 27.42 109 0 0.00 78 56 41.79 ENSG00000256249 0 genome.wustl.edu 37 12 123200108 123200108 + R SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 12 123200108 123200108 G A SNP ENSG00000256249 ENST00000543611 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-324E6.6 Clone_based_vega_gene ENSG00000256249 tier1 - - 134 0 0.00 47 31 39.74 81 0 0.00 31 26 45.61 UNC80 0 genome.wustl.edu 37 2 210705324 210705324 + Silent SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 2 210705324 210705324 G A SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known silent c.3315 p.L1105 0.994 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 61 0 0.00 23 7 23.33 87 0 0.00 41 16 27.59 WRN 0 genome.wustl.edu 37 8 30924631 30924631 + Missense_Mutation SNP G G T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 8 30924631 30924631 G T SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.587 p.R196L 1.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_D/R_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_D_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 75 0 0.00 45 18 28.12 110 0 0.00 105 38 26.21 FMNL2 0 genome.wustl.edu 37 2 153482063 153482063 + Missense_Mutation SNP A A G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 2 153482063 153482063 A G SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1949 p.E650G 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 53 0 0.00 13 25 65.79 98 0 0.00 32 69 68.32 HSDL2 0 genome.wustl.edu 37 9 115171212 115171212 + Silent SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 9 115171212 115171212 C T SNP HSDL2 ENST00000398805 human ensembl 74_37 +1 novel silent c.306 p.A102 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC ENSG00000119471 tier1 - - 57 0 0.00 38 19 33.33 103 0 0.00 115 43 27.04 IRGC 0 genome.wustl.edu 37 19 44223832 44223832 + Silent SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 19 44223832 44223832 C T SNP IRGC ENST00000244314 human ensembl 74_37 +1 known silent c.1122 p.G374 0.000 NULL pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 tier1 - - 133 0 0.00 87 36 29.03 29 0 0.00 19 20 51.28 NLRP11 0 genome.wustl.edu 37 19 56329269 56329269 + Splice_Site SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 19 56329269 56329269 C T SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known splice_site c.271+1 e1+1 0.359 - - - no_errors NLRP11 HGNC ENSG00000179873 tier1 - - 34 0 0.00 13 6 31.58 68 0 0.00 46 20 30.30 OAZ2 0 genome.wustl.edu 37 15 64995295 64995295 + R SNP T T C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 15 64995295 64995295 T C SNP OAZ2 ENST00000559665 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors OAZ2 HGNC ENSG00000180304 tier1 - - 100 0 0.00 19 22 53.66 29 0 0.00 15 8 34.78 UNC45B 0 genome.wustl.edu 37 17 33491118 33491118 + Missense_Mutation SNP C C A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 17 33491118 33491118 C A SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.1084 p.L362I 1.000 pfam_UNC-45/Ring3 pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 tier1 - - 51 0 0.00 27 14 34.15 49 0 0.00 42 24 36.36 C15orf61 0 genome.wustl.edu 37 15 67813895 67813895 + Missense_Mutation SNP G G C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 15 67813895 67813895 G C SNP C15orf61 ENST00000342683 human ensembl 74_37 +1 known missense c.309 p.Q103H 0.997 NULL NULL - no_errors C15orf61 HGNC ENSG00000189227 tier1 - - 63 0 0.00 32 9 20.93 20 0 0.00 27 7 20.59 DHRS13 0 genome.wustl.edu 37 17 27225817 27225817 + Missense_Mutation SNP C C G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 17 27225817 27225817 C G SNP DHRS13 ENST00000378895 human ensembl 74_37 -1 known missense c.776 p.R259T 0.001 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRS13 HGNC ENSG00000167536 tier1 - - 72 0 0.00 41 20 32.79 33 0 0.00 33 13 28.26 CA3 0 genome.wustl.edu 37 8 86351943 86351943 + Missense_Mutation SNP C C A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 8 86351943 86351943 C A SNP CA3 ENST00000285381 human ensembl 74_37 +1 known missense c.37 p.P13T 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA3 HGNC ENSG00000164879 tier1 - - 43 0 0.00 39 13 25.00 115 0 0.00 145 58 28.29 NEURL4 0 genome.wustl.edu 37 17 7230036 7230036 + Missense_Mutation SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 17 7230036 7230036 C T SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.1086 p.M362I 1.000 pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 tier1 - - 29 0 0.00 50 9 15.25 79 0 0.00 150 36 19.35 ENSG00000222732 0 genome.wustl.edu 37 5 171706280 171706280 + R SNP G G C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 5 171706280 171706280 G C SNP ENSG00000222732 ENST00000410800 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC008671.1 Clone_based_ensembl_gene ENSG00000222732 tier1 - - 57 0 0.00 25 17 39.53 109 0 0.00 40 34 45.95 SMG7 0 genome.wustl.edu 37 1 183520047 183520047 + Missense_Mutation SNP G G C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 183520047 183520047 G C SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.3157 p.D1053H 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 - - 56 0 0.00 95 9 8.65 127 0 0.00 303 41 11.92 CHSY3 0 genome.wustl.edu 37 5 129521365 129521365 + Missense_Mutation SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 5 129521365 129521365 C T SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.2530 p.P844S 1.000 pfam_Chond_Galc pfam_Chond_Galc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 tier1 - - 44 0 0.00 12 8 40.00 77 0 0.00 23 35 60.34 DFNB31 0 genome.wustl.edu 37 9 117240969 117240969 + Missense_Mutation SNP T T A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 9 117240969 117240969 T A SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.701 p.Y234F 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 tier1 - - 96 0 0.00 55 29 34.52 18 0 0.00 12 20 62.50 MNDA 0 genome.wustl.edu 37 1 158813136 158813136 + Silent SNP T T G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 158813136 158813136 T G SNP MNDA ENST00000368141 human ensembl 74_37 +1 known silent c.333 p.L111 0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 tier1 - - 31 0 0.00 54 9 14.29 68 0 0.00 132 20 13.16 CTDSP2 0 genome.wustl.edu 37 12 58223339 58223340 + Frame_Shift_Del DEL AC AC - TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 AC AC AC - AC AC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 12 58223339 58223340 AC - DEL CTDSP2 ENST00000398073 human ensembl 74_37 -1 known frame_shift_del c.105_104 p.R35fs 0.992:1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSP2 HGNC ENSG00000175215 tier1 99 0 0.00 41 38 48.10 67 0 0.00 51 33 39.29 ATR 0 genome.wustl.edu 37 3 142279108 142279108 + Frame_Shift_Del DEL T T - TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 3 142279108 142279108 T - DEL ATR ENST00000350721 human ensembl 74_37 -1 known frame_shift_del c.1538 p.N513fs 0.288 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 54 0 0.00 17 29 63.04 112 0 0.00 52 74 58.73 GINS4 0 genome.wustl.edu 37 8 41387793 41387793 + Frame_Shift_Del DEL A A - TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 8 41387793 41387793 A - DEL GINS4 ENST00000276533 human ensembl 74_37 +1 known frame_shift_del c.72 p.E25fs 1.000 pirsf_GINS_Sld5 pfam_GINS_complex,pirsf_GINS_Sld5 - no_errors GINS4 HGNC ENSG00000147536 tier1 44 0 0.00 25 8 24.24 95 0 0.00 85 55 39.29 ACTN1 0 genome.wustl.edu 37 14 69350935 69350935 + Missense_Mutation SNP T T A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 14 69350935 69350935 T A SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known missense c.1585 p.M529L 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN1 HGNC ENSG00000072110 tier1 - - 144 0 0.00 9 33 78.57 84 0 0.00 6 41 87.23 ADAM21P1 0 genome.wustl.edu 37 14 70713565 70713565 + R SNP G G T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 14 70713565 70713565 G T SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.035 - - - no_errors ADAM21P1 HGNC ENSG00000235812 tier1 - - 105 1 0.94 7 29 80.56 90 0 0.00 2 29 93.55 AMT 0 genome.wustl.edu 37 3 49459474 49459474 + Silent SNP A A T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 3 49459474 49459474 A T SNP AMT ENST00000399379 human ensembl 74_37 -1 known silent c.99 p.T33 0.000 NULL NULL - no_errors AMT HGNC ENSG00000145020 tier1 - - 51 0 0.00 2 15 88.24 129 0 0.00 7 38 84.44 C9orf147 0 genome.wustl.edu 37 9 115248931 115248931 + R SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 9 115248931 115248931 G A SNP C9orf147 ENST00000463223 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C9orf147 HGNC ENSG00000230185 tier1 - - 44 0 0.00 15 8 34.78 9 0 0.00 4 5 55.56 CHRNB4 0 genome.wustl.edu 37 15 78921713 78921713 + Missense_Mutation SNP T T A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 15 78921713 78921713 T A SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known missense c.934 p.T312S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 tier1 - - 83 0 0.00 33 17 34.00 28 0 0.00 8 5 38.46 COL11A2 0 genome.wustl.edu 37 6 33131576 33131576 + Missense_Mutation SNP A A G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 6 33131576 33131576 A G SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.5090 p.V1697A 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 91 0 0.00 27 16 36.36 18 0 0.00 6 6 50.00 DPF3 0 genome.wustl.edu 37 14 73190401 73190401 + Silent SNP C C G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 14 73190401 73190401 C G SNP DPF3 ENST00000366353 human ensembl 74_37 -1 known silent c.630 p.G210 0.989 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 tier1 - - 145 0 0.00 16 26 61.90 77 0 0.00 3 29 90.62 EPHA8 0 genome.wustl.edu 37 1 22925406 22925406 + Missense_Mutation SNP T T C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 22925406 22925406 T C SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.2254 p.S752P 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 tier1 - - 77 0 0.00 30 18 37.50 11 0 0.00 3 4 57.14 LOC149134 0 genome.wustl.edu 37 1 246954133 246954133 + R SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 246954133 246954133 C T SNP LOC149134 ENST00000419361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-439E19.3 Clone_based_vega_gene ENSG00000227953 tier1 - - 83 0 0.00 4 13 76.47 88 0 0.00 9 34 79.07 OBSCN 0 genome.wustl.edu 37 1 228463525 228463525 + Silent SNP C C G TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 228463525 228463525 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.6018 p.T2006 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 54 0 0.00 6 14 70.00 10 0 0.00 0 10 100.00 PCDHGA8 0 genome.wustl.edu 37 5 140773965 140773965 + Missense_Mutation SNP C C A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 5 140773965 140773965 C A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1585 p.Q529K 0.051 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 tier1 - - 86 0 0.00 18 15 45.45 19 0 0.00 9 7 43.75 PFKFB2 0 genome.wustl.edu 37 1 207228190 207228192 + R DEL TTA TTA - TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 TTA TTA TTA - TTA TTA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 207228190 207228192 TTA - DEL PFKFB2 ENST00000468857 human ensembl 74_37 +1 putative rna NULL NULL 0.682:0.629:0.168 - - - no_errors PFKFB2 HGNC ENSG00000123836 tier1 42 0 0.00 4 6 60.00 71 0 0.00 5 13 72.22 RFX6 0 genome.wustl.edu 37 6 117249984 117249984 + Missense_Mutation SNP C C A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 6 117249984 117249984 C A SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.2461 p.H821N 1.000 NULL pfam_D-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 94 0 0.00 2 20 90.91 94 0 0.00 6 35 85.37 ZAR1L 0 genome.wustl.edu 37 13 32886050 32886050 + Missense_Mutation SNP C C T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 13 32886050 32886050 C T SNP ZAR1L ENST00000345108 human ensembl 74_37 -1 known missense c.13 p.V5I 0.130 NULL NULL - no_errors ZAR1L HGNC ENSG00000189167 tier1 - - 85 0 0.00 7 17 70.83 96 0 0.00 7 28 80.00 GCNT2 0 genome.wustl.edu 37 6 10529549 10529549 + Silent SNP C C A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 6 10529549 10529549 C A SNP GCNT2 ENST00000379597 human ensembl 74_37 +1 known silent c.405 p.A135 0.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 tier1 - - 37 0 0.00 25 5 16.67 84 0 0.00 79 4 4.82 CELSR2 0 genome.wustl.edu 37 1 109804139 109804139 + Missense_Mutation SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 109804139 109804139 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.4186 p.A1396T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 82 0 0.00 33 9 21.43 126 1 0.79 96 9 8.57 SATL1 0 genome.wustl.edu 37 X 84349150 84349150 + Silent SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 X 84349150 84349150 G A SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known silent c.1860 p.V620 0.990 superfamily_Acyl_CoA_acyltransferase superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 tier1 - - 57 0 0.00 165 18 9.78 45 0 0.00 239 23 8.75 PRR9 0 genome.wustl.edu 37 1 153190623 153190623 + Missense_Mutation SNP G G C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 153190623 153190623 G C SNP PRR9 ENST00000368744 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors PRR9 HGNC ENSG00000203783 tier1 - - 68 0 0.00 137 19 12.10 77 0 0.00 284 31 9.72 NPHS1 0 genome.wustl.edu 37 19 36330257 36330257 + Silent SNP G G T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 19 36330257 36330257 G T SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known silent c.2991 p.T997 0.963 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 - - 68 0 0.00 42 8 16.00 102 0 0.00 121 10 7.63 KRTAP5-7 0 genome.wustl.edu 37 11 71238609 71238609 + Missense_Mutation SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 11 71238609 71238609 G A SNP KRTAP5-7 ENST00000398536 human ensembl 74_37 +1 known missense c.263 p.G88D 0.478 NULL NULL - no_errors KRTAP5-7 HGNC ENSG00000244411 tier1 - - 181 0 0.00 103 11 9.65 5 0 0.00 5 0 0.00 MT-RNR2 0 genome.wustl.edu 37 MT 2665 2665 + R SNP T T C TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 MT 2665 2665 T C SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 646 0 0.00 356 46 11.41 6 0 0.00 2 1 33.33 UBE2Q2P1 0 genome.wustl.edu 37 15 85081824 85081824 + R SNP G G T TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 15 85081824 85081824 G T SNP UBE2Q2P1 ENST00000339094 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors UBE2Q2P1 HGNC ENSG00000189136 tier1 - - 40 0 0.00 24 3 11.11 20 0 0.00 5 0 0.00 ARSD 0 genome.wustl.edu 37 X 2825157 2825158 + R INS - - AAAA TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 X 2825157 2825158 - AAAA INS ARSD ENST00000495294 human ensembl 74_37 -1 known rna NULL NULL 0.277:0.277 - - - no_errors ARSD HGNC ENSG00000006756 tier1 10 0 0.00 12 2 14.29 0 0 0.00 0 0 0.00 ENSG00000215954 0 genome.wustl.edu 37 11 112118610 112118617 + R DEL ACACACAC ACACACAC - TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 ACACACAC ACACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 11 112118610 112118617 ACACACAC - DEL ENSG00000215954 ENST00000401135 human ensembl 74_37 +1 novel rna NULL NULL 0.028:0.021:0.024:0.025:0.042:0.052:0.057:0.059 - - - no_errors AP002884.1 Clone_based_ensembl_gene ENSG00000215954 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000221280 0 genome.wustl.edu 37 12 118604652 118604653 + R INS - - ACAC TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 12 118604652 118604653 - ACAC INS ENSG00000221280 ENST00000408353 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.000 - - - no_errors AC026366.1 Clone_based_ensembl_gene ENSG00000221280 tier1 13 0 0.00 9 2 18.18 0 0 0.00 0 0 0.00 TMEM78 0 genome.wustl.edu 37 1 229385670 229385671 + Frame_Shift_Del DEL TC TC - TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65d03611-7930-43a7-a751-a6a0e2854593 89c21466-106d-42dd-bdff-dce05eb7cb32 1 229385670 229385671 TC - DEL TMEM78 ENST00000323223 human ensembl 74_37 +1 known frame_shift_del c.229_230 p.F79fs 0.029:0.021 NULL NULL - no_errors TMEM78 HGNC ENSG00000177800 tier1 15 0 0.00 7 3 30.00 0 0 0.00 0 0 0.00