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 NOL12 0 genome.wustl.edu 37 22 38084916 38084916 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 22 38084916 38084916 C T SNP NOL12 ENST00000359114 human ensembl 74_37 +1 known missense c.298 p.H100Y 1.000 pfam_Nucleolar_protein_12 pfam_Nucleolar_protein_12 - no_errors NOL12 HGNC ENSG00000100101 tier1 - - 37 0 0.00 25 12 32.43 53 0 0.00 22 18 43.90 MED12L 0 genome.wustl.edu 37 3 151083705 151083705 + Silent SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 3 151083705 151083705 C T SNP MED12L ENST00000474524 human ensembl 74_37 +1 known silent c.3148 p.L1050 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 96 0 0.00 89 27 23.28 75 1 1.32 40 16 28.57 SP91 0 genome.wustl.edu 37 6 84290167 84290167 + Splice_Site SNP A A T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 6 84290167 84290167 A T SNP SP91 ENST00000369694 human ensembl 74_37 -1 known splice_site c.2299+2 e23+2 1.000 - - - no_errors SP91 HGNC ENSG00000065609 tier1 - - 45 0 0.00 35 17 32.69 33 0 0.00 26 10 27.78 ZNF768 0 genome.wustl.edu 37 16 30536059 30536059 + Missense_Mutation SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 16 30536059 30536059 G A SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known missense c.1402 p.R468C 0.955 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_R_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 tier1 - - 62 0 0.00 72 28 27.72 15 0 0.00 21 9 30.00 DCLK2 0 genome.wustl.edu 37 4 151141922 151141922 + Missense_Mutation SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 4 151141922 151141922 G A SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.1175 p.S392N 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 tier1 - - 45 0 0.00 30 6 16.67 84 0 0.00 63 18 22.22 DCAF8L1 0 genome.wustl.edu 37 X 27997691 27997691 + Silent SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 X 27997691 27997691 G A SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known silent c.1761 p.S587 0.782 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 tier1 - - 35 0 0.00 51 24 32.00 55 0 0.00 77 33 30.00 MS4A2 0 genome.wustl.edu 37 11 59857896 59857896 + Missense_Mutation SNP A A C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 11 59857896 59857896 A C SNP MS4A2 ENST00000278888 human ensembl 74_37 +1 known missense c.274 p.I92L 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A2 HGNC ENSG00000149534 tier1 - - 79 0 0.00 49 13 20.97 116 1 0.85 64 18 21.95 ARHGEF26 0 genome.wustl.edu 37 3 153909093 153909093 + Silent SNP C C A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 3 153909093 153909093 C A SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known silent c.1656 p.S552 0.138 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 tier1 - - 82 0 0.00 68 16 19.05 98 0 0.00 95 14 12.84 PSMC2 0 genome.wustl.edu 37 7 102988198 102988198 + Nonsense_Mutation SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 7 102988198 102988198 G T SNP PSMC2 ENST00000292644 human ensembl 74_37 +1 known nonsense c.40 p.E14* 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 tier1 - - 31 0 0.00 29 4 12.12 91 0 0.00 61 22 26.51 GREM2 0 genome.wustl.edu 37 1 240656641 240656641 + Missense_Mutation SNP C C A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 240656641 240656641 C A SNP GREM2 ENST00000318160 human ensembl 74_37 -1 known missense c.135 p.W45C 1.000 pirsf_Gremlin_precursor pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 tier1 - - 86 0 0.00 60 35 36.84 14 0 0.00 13 7 33.33 CLYBL 0 genome.wustl.edu 37 13 100518604 100518604 + Nonsense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 13 100518604 100518604 C T SNP CLYBL ENST00000339105 human ensembl 74_37 +1 known nonsense c.745 p.R249* 0.387 pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta - no_errors CLYBL HGNC ENSG00000125246 tier1 - - 93 0 0.00 28 46 62.16 84 0 0.00 26 31 54.39 CHD8 0 genome.wustl.edu 37 14 21894403 21894403 + Splice_Site SNP T T G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 14 21894403 21894403 T G SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known splice_site c.1602-2 e4-2 1.000 - - - no_errors CHD8 HGNC ENSG00000100888 tier1 - - 18 0 0.00 34 7 17.07 111 0 0.00 134 19 12.42 PCDHA6 0 genome.wustl.edu 37 5 140208144 140208144 + Silent SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 5 140208144 140208144 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.468 p.G156 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 51 0 0.00 40 9 18.37 96 0 0.00 80 18 18.37 ZNF81 0 genome.wustl.edu 37 X 47775958 47775958 + Missense_Mutation SNP A A G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 X 47775958 47775958 A G SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known missense c.1913 p.Y638C 1.000 smart_Znf_C2H2-like,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 ZNF81 HGNC ENSG00000197779 tier1 - - 39 0 0.00 79 15 15.96 73 0 0.00 124 18 12.68 C4BPA 0 genome.wustl.edu 37 1 207304944 207304944 + Missense_Mutation SNP A A T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 207304944 207304944 A T SNP C4BPA ENST00000367070 human ensembl 74_37 +1 known missense c.943 p.R315W 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 tier1 - - 66 0 0.00 53 25 32.05 117 0 0.00 80 17 17.53 GREM2 0 genome.wustl.edu 37 1 240656642 240656642 + Missense_Mutation SNP C C A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 240656642 240656642 C A SNP GREM2 ENST00000318160 human ensembl 74_37 -1 known missense c.134 p.W45L 1.000 pirsf_Gremlin_precursor pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 tier1 - - 89 0 0.00 61 35 36.46 14 0 0.00 14 6 28.57 ENSG00000260628 0 genome.wustl.edu 37 16 31995067 31995067 + R SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 16 31995067 31995067 C T SNP ENSG00000260628 ENST00000568570 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 tier1 - - 45 0 0.00 45 15 25.00 16 0 0.00 28 6 17.65 DSG4 0 genome.wustl.edu 37 18 28993106 28993106 + Nonsense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 18 28993106 28993106 C T SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known nonsense c.2728 p.Q910* 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 tier1 - - 32 0 0.00 29 6 17.14 91 0 0.00 61 16 20.78 PTPRO 0 genome.wustl.edu 37 12 15654724 15654724 + Missense_Mutation SNP A A T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 12 15654724 15654724 A T SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.832 p.N278Y 0.958 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 tier1 - - 75 0 0.00 52 18 25.71 114 0 0.00 62 23 27.06 SERPINB13 0 genome.wustl.edu 37 18 61260203 61260203 + Missense_Mutation SNP A A T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 18 61260203 61260203 A T SNP SERPINB13 ENST00000344731 human ensembl 74_37 +1 known missense c.470 p.N157I 0.955 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 tier1 - - 57 0 0.00 57 8 12.31 82 0 0.00 72 25 25.77 CEACAM20 0 genome.wustl.edu 37 19 45029236 45029236 + R SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 19 45029236 45029236 G A SNP CEACAM20 ENST00000316962 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CEACAM20 HGNC ENSG00000176395 tier1 - - 16 0 0.00 32 24 42.86 102 0 0.00 100 167 62.55 HMCN1 0 genome.wustl.edu 37 1 186086748 186086748 + Silent SNP G G C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 186086748 186086748 G C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.11841 p.L3947 0.983 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 37 0 0.00 18 12 40.00 115 0 0.00 60 18 23.08 OR2T12 0 genome.wustl.edu 37 1 248458375 248458375 + Missense_Mutation SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 248458375 248458375 G A SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.506 p.A169V 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 OR2T12 HGNC ENSG00000177201 tier1 - - 76 0 0.00 46 8 14.81 93 0 0.00 70 23 24.73 PRNT 0 genome.wustl.edu 37 20 4713202 4713202 + Missense_Mutation SNP G G C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 20 4713202 4713202 G C SNP PRNT ENST00000326539 human ensembl 74_37 -1 known missense c.121 p.P41A 0.015 NULL NULL - no_errors PRNT HGNC ENSG00000180259 tier1 - - 40 0 0.00 17 3 15.00 118 0 0.00 30 4 11.76 FER1L6 0 genome.wustl.edu 37 8 125061960 125061960 + Missense_Mutation SNP C C G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 8 125061960 125061960 C G SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.2837 p.S946C 0.999 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 - - 51 0 0.00 71 13 15.29 81 0 0.00 96 11 10.19 IGF2R 0 genome.wustl.edu 37 6 160461743 160461743 + Silent SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 6 160461743 160461743 G T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known silent c.1467 p.L489 1.000 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 - - 63 0 0.00 43 9 17.31 43 0 0.00 35 15 30.00 CYP2C18 0 genome.wustl.edu 37 10 96484253 96484253 + Missense_Mutation SNP C C A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 10 96484253 96484253 C A SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known missense c.1112 p.T371N 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 tier1 - - 62 0 0.00 54 11 16.92 90 0 0.00 59 27 31.40 AKAP1 0 genome.wustl.edu 37 17 55189859 55189859 + Silent SNP A A G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 17 55189859 55189859 A G SNP AKAP1 ENST00000337714 human ensembl 74_37 +1 known silent c.1983 p.Q661 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 tier1 - - 49 0 0.00 37 9 19.57 132 0 0.00 75 13 14.77 CYSLTR1 0 genome.wustl.edu 37 X 77528983 77528983 + Silent SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 X 77528983 77528983 G T SNP CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known silent c.261 p.G87 0.823 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 tier1 - - 26 0 0.00 17 6 26.09 46 0 0.00 29 7 19.44 BEND7 0 genome.wustl.edu 37 10 13541962 13541962 + Silent SNP G G C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 10 13541962 13541962 G C SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known silent c.264 p.P88 1.000 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 tier1 - - 56 0 0.00 65 15 18.75 111 0 0.00 97 21 17.80 ZNF507 0 genome.wustl.edu 37 19 32873817 32873817 + Missense_Mutation SNP C C G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 19 32873817 32873817 C G SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.2690 p.S897C 0.022 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 tier1 - - 35 0 0.00 33 4 10.81 80 0 0.00 86 21 19.63 PRDM11 0 genome.wustl.edu 37 11 45203362 45203362 + Silent SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 11 45203362 45203362 C T SNP PRDM11 ENST00000263765 human ensembl 74_37 +1 known silent c.147 p.A49 0.628 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 tier1 - - 24 0 0.00 22 16 42.11 63 0 0.00 83 24 22.43 PCDHA8 0 genome.wustl.edu 37 5 140221827 140221827 + Silent SNP T T C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 5 140221827 140221827 T C SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.921 p.N307 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 92 0 0.00 89 15 14.42 84 0 0.00 63 9 12.50 ADAM3A 0 genome.wustl.edu 37 8 39363347 39363347 + R SNP T T A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 8 39363347 39363347 T A SNP ADAM3A ENST00000424066 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ADAM3A HGNC ENSG00000197475 tier1 - - 70 0 0.00 24 15 38.46 59 0 0.00 22 6 20.69 SLC22A25 0 genome.wustl.edu 37 11 62996923 62996923 + Missense_Mutation SNP T T A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 11 62996923 62996923 T A SNP SLC22A25 ENST00000306494 human ensembl 74_37 -1 known missense c.202 p.S68C 0.364 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 tier1 - - 54 0 0.00 34 11 24.44 90 0 0.00 59 16 21.33 TRPM6 0 genome.wustl.edu 37 9 77377199 77377199 + Missense_Mutation SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 9 77377199 77377199 G A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.4388 p.T1463I 0.227 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 31 0 0.00 32 13 28.89 116 1 0.85 63 57 47.11 PAPPA 0 genome.wustl.edu 37 9 118997486 118997486 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 9 118997486 118997486 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.2302 p.P768S 0.996 superfamily_Fibronectin_type3 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 34 0 0.00 34 11 24.44 91 0 0.00 53 23 30.26 IL23A 0 genome.wustl.edu 37 12 56732989 56732989 + Missense_Mutation SNP T T A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 12 56732989 56732989 T A SNP IL23A ENST00000228534 human ensembl 74_37 +1 known missense c.161 p.M54K 0.542 superfamily_4_helix_cytokine-like_core pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core - no_errors IL23A HGNC ENSG00000110944 tier1 - - 26 0 0.00 23 5 17.86 44 0 0.00 42 10 19.23 KIF20B 0 genome.wustl.edu 37 10 91492692 91492692 + Missense_Mutation SNP C C G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 10 91492692 91492692 C G SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.2424 p.N808K 0.004 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 tier1 - - 79 0 0.00 74 17 18.68 58 0 0.00 48 8 14.29 PADI2 0 genome.wustl.edu 37 1 17395742 17395742 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 17395742 17395742 C T SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.1795 p.G599S 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 tier1 - - 31 0 0.00 54 9 14.29 55 0 0.00 77 18 18.95 EYS 0 genome.wustl.edu 37 6 65707520 65707520 + Silent SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 6 65707520 65707520 G A SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.2214 p.I738 0.136 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_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 EYS HGNC ENSG00000188107 tier1 - - 49 0 0.00 58 14 19.44 92 0 0.00 87 26 23.01 EPHA8 0 genome.wustl.edu 37 1 22915658 22915658 + Missense_Mutation SNP C C A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 22915658 22915658 C A SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.1274 p.P425H 0.993 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 60 0 0.00 82 17 17.17 37 0 0.00 36 13 26.53 WNK1 0 genome.wustl.edu 37 12 1009691 1009691 + Silent SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 12 1009691 1009691 C T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.7992 p.T2664 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 23 0 0.00 64 53 45.30 65 0 0.00 135 114 45.78 AXDND1 0 genome.wustl.edu 37 1 179380379 179380379 + Missense_Mutation SNP C C G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 179380379 179380379 C G SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.1208 p.A403G 1.000 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 tier1 - - 142 0 0.00 134 28 17.28 105 0 0.00 81 22 21.36 ANKRD31 0 genome.wustl.edu 37 5 74408388 74408388 + Missense_Mutation SNP T T C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 5 74408388 74408388 T C SNP ANKRD31 ENST00000274361 human ensembl 74_37 -1 known missense c.4022 p.E1341G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ENSG00000145700 tier1 - - 50 0 0.00 42 13 23.64 44 0 0.00 46 11 18.97 OR6C75 0 genome.wustl.edu 37 12 55759380 55759380 + Silent SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 12 55759380 55759380 G T SNP OR6C75 ENST00000343399 human ensembl 74_37 +1 known silent c.486 p.L162 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 tier1 - - 21 0 0.00 24 7 22.58 86 0 0.00 75 16 17.58 PKHD1L1 0 genome.wustl.edu 37 8 110527530 110527530 + Silent SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 8 110527530 110527530 C T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.11685 p.Y3895 0.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 83 0 0.00 93 16 14.68 109 0 0.00 106 21 16.54 RAB27A 0 genome.wustl.edu 37 15 55497751 55497751 + Missense_Mutation SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 15 55497751 55497751 G A SNP RAB27A ENST00000336787 human ensembl 74_37 -1 known missense c.620 p.T207M 0.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27A HGNC ENSG00000069974 tier1 rs151048993 - 41 0 0.00 26 7 21.21 75 0 0.00 63 22 25.88 PEG3 0 genome.wustl.edu 37 19 57335828 57335828 + Missense_Mutation SNP T T C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 19 57335828 57335828 T C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.196 p.K66E 0.993 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 25 0 0.00 28 6 17.65 120 0 0.00 81 9 10.00 BTBD16 0 genome.wustl.edu 37 10 124089035 124089035 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 10 124089035 124089035 C T SNP BTBD16 ENST00000368994 human ensembl 74_37 +1 known missense c.955 p.R319W 0.969 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 tier1 - - 45 0 0.00 54 7 11.48 72 0 0.00 68 23 25.27 KIAA1109 0 genome.wustl.edu 37 4 123128768 123128768 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 4 123128768 123128768 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.1727 p.T576I 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 78 0 0.00 87 43 32.82 92 0 0.00 57 22 27.50 XIST 0 genome.wustl.edu 37 X 73040985 73040985 + R SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 X 73040985 73040985 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 41 0 0.00 16 42 72.41 60 0 0.00 20 32 61.54 C19orf55 0 genome.wustl.edu 37 19 36259390 36259390 + Silent SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 19 36259390 36259390 G A SNP C19orf55 ENST00000396908 human ensembl 74_37 +1 known silent c.1383 p.R461 0.204 NULL NULL - no_errors C19orf55 HGNC ENSG00000167595 tier1 - - 74 0 0.00 166 24 12.63 62 0 0.00 110 14 11.02 KNDC1 0 genome.wustl.edu 37 10 135013927 135013927 + Silent SNP C C A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 10 135013927 135013927 C A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.2958 p.R986 0.021 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 129 0 0.00 126 27 17.65 3 0 0.00 11 2 15.38 RNF222 0 genome.wustl.edu 37 17 8296735 8296735 + Silent SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 17 8296735 8296735 G T SNP RNF222 ENST00000344001 human ensembl 74_37 -1 known silent c.45 p.P15 0.935 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF222 HGNC ENSG00000189051 tier1 - - 19 0 0.00 17 4 19.05 35 0 0.00 25 8 23.53 CPA5 0 genome.wustl.edu 37 7 130002370 130002370 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 7 130002370 130002370 C T SNP CPA5 ENST00000355388 human ensembl 74_37 +1 known missense c.626 p.T209I 0.029 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 tier1 - - 9 0 0.00 4 5 55.56 29 0 0.00 27 9 25.00 CHST1 0 genome.wustl.edu 37 11 45671752 45671752 + Missense_Mutation SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 11 45671752 45671752 G T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.722 p.A241D 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 tier1 - - 48 0 0.00 63 15 19.23 40 0 0.00 53 11 17.19 CLLU1 0 genome.wustl.edu 37 12 92818639 92818639 + Missense_Mutation SNP C C A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 12 92818639 92818639 C A SNP CLLU1 ENST00000378485 human ensembl 74_37 +1 known missense c.183 p.S61R 0.072 NULL NULL - no_errors CLLU1 HGNC ENSG00000257127 tier1 - - 74 0 0.00 66 10 13.16 82 0 0.00 47 9 16.07 MAST2 0 genome.wustl.edu 37 1 46493510 46493510 + Missense_Mutation SNP A A G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 46493510 46493510 A G SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.2027 p.D676G 1.000 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 43 0 0.00 35 25 41.67 122 0 0.00 101 80 44.20 CCDC54 0 genome.wustl.edu 37 3 107096946 107096946 + Missense_Mutation SNP A A G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 3 107096946 107096946 A G SNP CCDC54 ENST00000261058 human ensembl 74_37 +1 known missense c.512 p.Y171C 0.004 NULL NULL - no_errors CCDC54 HGNC ENSG00000138483 tier1 - - 38 0 0.00 16 15 48.39 149 0 0.00 49 49 50.00 SAT2 0 genome.wustl.edu 37 17 7530066 7530066 + R SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 17 7530066 7530066 C T SNP SAT2 ENST00000570850 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors SAT2 HGNC ENSG00000141504 tier1 - - 49 0 0.00 57 7 10.94 119 0 0.00 118 24 16.90 EMR1 0 genome.wustl.edu 37 19 6890543 6890543 + Missense_Mutation SNP C C A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 19 6890543 6890543 C A SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.83 p.P28Q 0.002 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 tier1 - - 22 0 0.00 35 14 28.57 108 1 0.92 114 46 28.75 FAM151A 0 genome.wustl.edu 37 1 55078384 55078384 + Splice_Site SNP C C A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 55078384 55078384 C A SNP FAM151A ENST00000302250 human ensembl 74_37 -1 known splice_site c.576-1 e5-1 1.000 - - - no_errors FAM151A HGNC ENSG00000162391 tier1 - - 27 0 0.00 30 4 11.76 80 0 0.00 101 15 12.82 NUMA1 0 genome.wustl.edu 37 11 71715046 71715046 + Missense_Mutation SNP T T G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 11 71715046 71715046 T G SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.6223 p.K2075Q 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 tier1 - - 74 0 0.00 64 19 22.89 46 0 0.00 33 13 28.26 MARK1 0 genome.wustl.edu 37 1 220804450 220804450 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 220804450 220804450 C T SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.983 p.P328L 1.000 pfscan_UBA/transl_elong_EF1B_N_euk pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 66 0 0.00 73 25 25.51 128 0 0.00 93 26 21.85 PRSS22 0 genome.wustl.edu 37 16 2908114 2908114 + R SNP G G C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 16 2908114 2908114 G C SNP PRSS22 ENST00000574768 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PRSS22 HGNC ENSG00000005001 tier1 - - 53 0 0.00 81 11 11.96 8 0 0.00 18 2 10.00 MARCH9 0 genome.wustl.edu 37 12 58152549 58152549 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 12 58152549 58152549 C T SNP MARCH9 ENST00000266643 human ensembl 74_37 +1 known missense c.910 p.R304C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH9 HGNC ENSG00000139266 tier1 - - 20 0 0.00 6 3 33.33 21 0 0.00 22 10 31.25 GRIN3A 0 genome.wustl.edu 37 9 104433255 104433255 + Missense_Mutation SNP C C G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 9 104433255 104433255 C G SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.1439 p.R480P 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 tier1 - - 36 0 0.00 36 9 20.00 111 0 0.00 99 18 15.38 SIDT1 0 genome.wustl.edu 37 3 113325907 113325907 + Missense_Mutation SNP A A G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 3 113325907 113325907 A G SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known missense c.1424 p.N475S 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 tier1 - - 42 0 0.00 61 13 17.57 120 0 0.00 129 22 14.57 KCNJ6 0 genome.wustl.edu 37 21 38997772 38997772 + Missense_Mutation SNP C C A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 21 38997772 38997772 C A SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.961 p.A321S 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 tier1 - - 26 0 0.00 16 10 35.71 104 0 0.00 66 13 16.46 ANO2 0 genome.wustl.edu 37 12 5744346 5744346 + Silent SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 12 5744346 5744346 G A SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known silent c.1791 p.G597 0.016 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 49 0 0.00 28 19 40.43 61 0 0.00 16 17 51.52 CALCR 0 genome.wustl.edu 37 7 93072957 93072957 + Missense_Mutation SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 7 93072957 93072957 G T SNP CALCR ENST00000359558 human ensembl 74_37 -1 known missense c.863 p.T288N 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCR HGNC ENSG00000004948 tier1 - - 36 0 0.00 14 13 48.15 101 0 0.00 40 38 48.72 SEMA4D 0 genome.wustl.edu 37 9 92001316 92001316 + Missense_Mutation SNP T T C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 9 92001316 92001316 T C SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.1412 p.E471G 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 tier1 - - 41 0 0.00 32 5 13.51 37 0 0.00 27 4 12.90 EVC2 0 genome.wustl.edu 37 4 5664843 5664843 + Missense_Mutation SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 4 5664843 5664843 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.1136 p.A379V 1.000 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 tier1 - - 22 0 0.00 10 15 60.00 87 0 0.00 45 35 43.75 RPS15 0 genome.wustl.edu 37 19 1438503 1438503 + Missense_Mutation SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 19 1438503 1438503 G T SNP RPS15 ENST00000592623 human ensembl 74_37 +1 known missense c.79 p.A27S 0.000 NULL NULL - no_errors RPS15 HGNC ENSG00000115268 tier1 - - 51 0 0.00 79 18 18.56 19 0 0.00 25 3 10.71 KIAA1244 0 genome.wustl.edu 37 6 138610965 138610965 + Missense_Mutation SNP A A T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 6 138610965 138610965 A T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.2907 p.K969N 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 63 0 0.00 36 24 40.00 83 0 0.00 25 13 34.21 PIK3CG 0 genome.wustl.edu 37 7 106508826 106508826 + Missense_Mutation SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 7 106508826 106508826 G A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.820 p.V274I 1.000 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 tier1 - - 55 0 0.00 56 11 16.18 83 0 0.00 48 15 23.81 LRRC9 0 genome.wustl.edu 37 14 60468763 60468763 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 14 60468763 60468763 C T SNP LRRC9 ENST00000254271 human ensembl 74_37 +1 known missense c.2609 p.T870M 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC ENSG00000131951 tier1 - - 74 0 0.00 50 9 15.25 125 0 0.00 72 17 19.10 ETV3L 0 genome.wustl.edu 37 1 157062565 157062565 + Missense_Mutation SNP T T A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 157062565 157062565 T A SNP ETV3L ENST00000454449 human ensembl 74_37 -1 known missense c.962 p.K321M 0.001 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3L HGNC ENSG00000253831 tier1 - - 49 0 0.00 71 21 22.83 61 0 0.00 97 20 17.09 TP53 0 genome.wustl.edu 37 17 7577129 7577131 + In_Frame_Del DEL AAG AAG - TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 AAG AAG AAG - AAG AAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 17 7577129 7577131 AAG - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.809_807 p.F270in_frame_del 1.000:1.000:1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 12 0 0.00 7 7 50.00 112 0 0.00 48 77 61.60 SYDE1 0 genome.wustl.edu 37 19 15224613 15224618 + In_Frame_Del DEL AGCGAG AGCGAG - TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 AGCGAG AGCGAG AGCGAG - AGCGAG AGCGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 19 15224613 15224618 AGCGAG - DEL SYDE1 ENST00000342784 human ensembl 74_37 +1 known in_frame_del c.2047_2052 p.SE683in_frame_del 1.000:1.000:0.990:1.000:1.000:1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 tier1 25 0 0.00 45 11 19.64 25 0 0.00 45 11 19.64 C7orf26 0 genome.wustl.edu 37 7 6629958 6629958 + Missense_Mutation SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 7 6629958 6629958 G A SNP C7orf26 ENST00000344417 human ensembl 74_37 +1 known missense c.44 p.S15N 1.000 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 tier1 - - 31 0 0.00 17 11 39.29 9 0 0.00 5 4 44.44 SLC25A47 0 genome.wustl.edu 37 14 100795157 100795157 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 14 100795157 100795157 C T SNP SLC25A47 ENST00000361529 human ensembl 74_37 +1 known missense c.422 p.P141L 0.006 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A47 HGNC ENSG00000140107 tier1 - - 40 0 0.00 28 26 48.15 6 0 0.00 2 5 71.43 TBC1D1 0 genome.wustl.edu 37 4 38016303 38016303 + Silent SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 4 38016303 38016303 C T SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known silent c.591 p.I197 0.996 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 tier1 - - 26 0 0.00 32 8 19.51 23 0 0.00 8 3 27.27 ENSG00000258364 0 genome.wustl.edu 37 14 19412591 19412591 + R SNP A A T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 14 19412591 19412591 A T SNP ENSG00000258364 ENST00000550928 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors RP11-536C10.16 Clone_based_vega_gene ENSG00000258364 tier1 - - 53 0 0.00 68 11 13.75 67 0 0.00 88 5 5.38 MUC1 0 genome.wustl.edu 37 1 155158531 155158531 + R SNP T T C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 155158531 155158531 T C SNP MUC1 ENST00000462215 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MUC1 HGNC ENSG00000185499 tier1 - - 51 0 0.00 93 11 10.48 27 0 0.00 62 6 8.70 FCER2 0 genome.wustl.edu 37 19 7761923 7761923 + Missense_Mutation SNP C C G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 19 7761923 7761923 C G SNP FCER2 ENST00000346664 human ensembl 74_37 -1 known missense c.355 p.D119H 0.057 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors FCER2 HGNC ENSG00000104921 tier1 - - 62 0 0.00 98 10 9.26 48 0 0.00 95 4 4.00 ZNF225 0 genome.wustl.edu 37 19 44636550 44636550 + Missense_Mutation SNP C C G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 19 44636550 44636550 C G SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known missense c.1783 p.P595A 0.999 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 ZNF225 HGNC ENSG00000256294 tier1 - - 54 0 0.00 155 15 8.82 62 0 0.00 114 10 8.06 MYH10 0 genome.wustl.edu 37 17 8380278 8380278 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 17 8380278 8380278 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5765 p.R1922H 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 26 0 0.00 39 10 20.00 55 0 0.00 65 7 9.72 OSTN 0 genome.wustl.edu 37 3 190967857 190967857 + Missense_Mutation SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 3 190967857 190967857 G T SNP OSTN ENST00000339051 human ensembl 74_37 +1 known missense c.349 p.G117C 0.993 pfam_Osteocrin pfam_Osteocrin - no_errors OSTN HGNC ENSG00000188729 tier1 - - 133 0 0.00 74 64 46.38 184 2 1.08 85 53 38.41 CDK5RAP2 0 genome.wustl.edu 37 9 123205989 123205989 + Missense_Mutation SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 9 123205989 123205989 G T SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.3057 p.D1019E 0.717 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 - - 29 0 0.00 26 10 27.78 47 1 2.08 35 15 30.00 KRTAP10-10 0 genome.wustl.edu 37 21 46057634 46057634 + Silent SNP T T C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 21 46057634 46057634 T C SNP KRTAP10-10 ENST00000380095 human ensembl 74_37 +1 known silent c.300 p.C100 0.122 NULL NULL - no_errors KRTAP10-10 HGNC ENSG00000221859 tier1 rs61029972 - 34 0 0.00 31 7 18.42 9 0 0.00 9 0 0.00 SLC4A5 0 genome.wustl.edu 37 2 74479414 74479416 + In_Frame_Del DEL CCA CCA - TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 2 74479414 74479416 CCA - DEL SLC4A5 ENST00000357822 human ensembl 74_37 -1 known in_frame_del c.1370_1368 p.G457in_frame_del 0.160:0.293:0.421 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 tier1 29 0 0.00 15 2 11.76 5 0 0.00 9 0 0.00 ANKRD20A8P 0 genome.wustl.edu 37 2 95494939 95494939 + R SNP A A T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 2 95494939 95494939 A T SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.278 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 tier1 - - 318 0 0.00 290 65 18.31 0 0 0.00 0 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102304789 102304791 + R DEL GAA GAA - TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 15 102304789 102304791 GAA - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.066:0.054:0.028 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 37 0 0.00 35 6 14.63 0 0 0.00 0 0 0.00 GS 0 genome.wustl.edu 37 20 57464277 57464278 + R INS - - CGGCG TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 20 57464277 57464278 - CGGCG INS GS ENST00000469431 human ensembl 74_37 +1 known rna NULL NULL 0.949:0.921 - - - no_errors GS HGNC ENSG00000087460 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 GOLGA6L1 0 genome.wustl.edu 37 15 22743302 22743303 + In_Frame_Ins INS - - AGG TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 15 22743302 22743303 - AGG INS GOLGA6L1 ENST00000316397 human ensembl 74_37 +1 known in_frame_ins c.1687_1688 p.565in_frame_insE 0.243:0.437 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L1 HGNC ENSG00000197414 tier1 53 0 0.00 54 5 8.47 2 0 0.00 0 0 0.00 GOLGA8M 0 genome.wustl.edu 37 15 28952905 28952905 + Missense_Mutation SNP T T C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 15 28952905 28952905 T C SNP GOLGA8M ENST00000340249 human ensembl 74_37 -1 known missense c.337 p.K113E 0.783 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 tier1 - - 131 0 0.00 98 32 24.62 0 0 0.00 0 0 0.00 MT-RNR2 0 genome.wustl.edu 37 MT 2647 2647 + R SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 MT 2647 2647 G T SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 670 0 0.00 237 357 60.10 4 0 0.00 0 1 100.00 MT-TC 0 genome.wustl.edu 37 MT 5824 5824 + R SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 MT 5824 5824 G A SNP MT-TC ENST00000387405 human ensembl 74_37 -1 known rna NULL NULL NULL - - - no_errors MT-TC HGNC ENSG00000210140 tier1 - - 112 0 0.00 89 22 19.82 0 0 0.00 2 0 0.00 MT-TF 0 genome.wustl.edu 37 MT 588 588 + R SNP T T C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 MT 588 588 T C SNP MT-TF ENST00000387314 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TF HGNC ENSG00000210049 tier1 - - 98 0 0.00 41 63 60.58 0 0 0.00 0 1 100.00 PCDH8 0 genome.wustl.edu 37 13 53421442 53421444 + In_Frame_Del DEL GCG GCG - TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 13 53421442 53421444 GCG - DEL PCDH8 ENST00000377942 human ensembl 74_37 -1 known in_frame_del c.1130_1128 p.A378in_frame_del 0.903:0.923:0.916 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 tier1 8 0 0.00 6 3 33.33 0 0 0.00 0 0 0.00 PDXK 0 genome.wustl.edu 37 21 45157549 45157590 + R DEL GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC - TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 21 45157549 45157590 GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC - DEL PDXK ENST00000476313 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.001:0.000:0.001:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.002:0.003:0.003:0.004:0.003:0.003:0.001:0.000:0.001:0.000:0.000:0.000 - - - no_errors PDXK HGNC ENSG00000160209 tier1 1 0 0.00 2 0 0.00 1 0 0.00 2 0 0.00 MT-RNR1 0 genome.wustl.edu 37 MT 686 686 + R SNP A A G TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 MT 686 686 A G SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 188 0 0.00 63 98 60.87 2 0 0.00 2 2 50.00 SGK223 0 genome.wustl.edu 37 8 8234306 8234306 + Missense_Mutation SNP T T C TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 8 8234306 8234306 T C SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.1613 p.E538G 0.003 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 - - 53 0 0.00 39 22 36.07 34 0 0.00 24 2 7.69 USH2A 0 genome.wustl.edu 37 1 215848049 215848049 + Missense_Mutation SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 1 215848049 215848049 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.13204 p.Q4402K 0.516 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 16 0 0.00 20 9 31.03 58 0 0.00 60 2 3.23 CLPSL1 0 genome.wustl.edu 37 6 35754852 35754852 + Silent SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 6 35754852 35754852 G T SNP CLPSL1 ENST00000373861 human ensembl 74_37 +1 known silent c.177 p.S59 0.001 smart_Colipase,prints_Colipase smart_Colipase,prints_Colipase - no_errors CLPSL1 HGNC ENSG00000204140 tier1 - - 214 1 0.47 239 27 10.11 28 0 0.00 34 2 5.56 UVSSA 0 genome.wustl.edu 37 4 1360147 1360147 + Nonsense_Mutation SNP G G T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 4 1360147 1360147 G T SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known nonsense c.1216 p.E406* 0.674 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 tier1 - - 42 0 0.00 35 4 10.26 69 0 0.00 71 2 2.74 STRN 0 genome.wustl.edu 37 2 37126759 37126759 + Silent SNP G G A TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e48209f-ba06-4da0-b1d5-3e7bb00d5cba 13d21ee5-7825-41f8-a9b2-9d73657bf6c9 2 37126759 37126759 G A SNP STRN ENST00000263918 human ensembl 74_37 -1 known silent c.702 p.F234 1.000 NULL pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 tier1 - - 48 0 0.00 60 10 14.29 70 0 0.00 62 3 4.62