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 SPEG 0 genome.wustl.edu 37 2 220330645 220330656 + R DEL GCGCGCGTGTGC GCGCGCGTGTGC - TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 GCGCGCGTGTGC GCGCGCGTGTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 2 220330645 220330656 GCGCGCGTGTGC - DEL SPEG ENST00000462545 human ensembl 74_37 +1 known rna NULL NULL 0.015:0.006:0.004:0.001:0.002:0.003:0.005:0.006:0.006:0.000:0.000:0.000 - - - no_errors SPEG HGNC ENSG00000072195 tier1 TPTE 0 genome.wustl.edu 37 21 10942923 10942923 + Missense_Mutation SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 21 10942923 10942923 G A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.664 p.R222W 0.999 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 rs76723236 - 153 0 0.00 345 42 10.82 LRRN1 0 genome.wustl.edu 37 3 3886327 3886327 + Missense_Mutation SNP T T A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 3 3886327 3886327 T A SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.2 p.M1K 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 tier1 - - 51 0 0.00 58 15 20.55 PCSK5 0 genome.wustl.edu 37 9 78773965 78773965 + Missense_Mutation SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 9 78773965 78773965 C A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.1497 p.N499K 1.000 superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 51 0 0.00 62 9 12.68 OR8D4 0 genome.wustl.edu 37 11 123777441 123777441 + Silent SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 11 123777441 123777441 G T SNP OR8D4 ENST00000321355 human ensembl 74_37 +1 known silent c.303 p.L101 0.220 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 tier1 - - 25 0 0.00 18 3 14.29 CEP170P1 0 genome.wustl.edu 37 4 119473438 119473438 + R SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 4 119473438 119473438 G A SNP CEP170P1 ENST00000412784 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors CEP170P1 HGNC ENSG00000154608 tier1 - - 48 0 0.00 49 10 16.95 CCK 0 genome.wustl.edu 37 3 42299608 42299608 + Missense_Mutation SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 3 42299608 42299608 C A SNP CCK ENST00000334681 human ensembl 74_37 -1 known missense c.330 p.E110D 0.998 pfam_Gastrin,smart_Gastrin pfam_Gastrin,smart_Gastrin - no_errors CCK HGNC ENSG00000187094 tier1 - - 70 0 0.00 79 19 19.39 SPO11 0 genome.wustl.edu 37 20 55908249 55908249 + Missense_Mutation SNP A A T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 20 55908249 55908249 A T SNP SPO11 ENST00000371263 human ensembl 74_37 +1 known missense c.251 p.E84V 1.000 NULL pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC ENSG00000054796 tier1 - - 55 0 0.00 130 16 10.96 DDR2 0 genome.wustl.edu 37 1 162722976 162722976 + Silent SNP C C G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 1 162722976 162722976 C G SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known silent c.174 p.A58 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 tier1 - - 10 0 0.00 15 5 25.00 IFR1 0 genome.wustl.edu 37 21 34697383 34697383 + Missense_Mutation SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 21 34697383 34697383 C A SNP IFR1 ENST00000270139 human ensembl 74_37 +1 known missense c.23 p.A8E 0.304 pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFR1 HGNC ENSG00000142166 tier1 - - 49 0 0.00 52 21 28.77 SBF2 0 genome.wustl.edu 37 11 10051374 10051374 + Missense_Mutation SNP A A G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 11 10051374 10051374 A G SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.451 p.S151P 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 tier1 - - 45 0 0.00 34 16 32.00 RNF125 0 genome.wustl.edu 37 18 29648272 29648272 + Silent SNP A A T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 18 29648272 29648272 A T SNP RNF125 ENST00000217740 human ensembl 74_37 +1 known silent c.624 p.I208 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 tier1 - - 44 0 0.00 50 14 21.88 ASIC5 0 genome.wustl.edu 37 4 156784866 156784866 + Silent SNP T T C TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 4 156784866 156784866 T C SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known silent c.81 p.P27 0.012 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 tier1 - - 52 0 0.00 70 15 17.65 GPN3 0 genome.wustl.edu 37 12 110902999 110902999 + Missense_Mutation SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 12 110902999 110902999 C A SNP GPN3 ENST00000543199 human ensembl 74_37 -1 known missense c.186 p.M62I 1.000 pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase - no_errors GPN3 HGNC ENSG00000111231 tier1 - - 47 0 0.00 43 25 36.76 ENSG00000227175 0 genome.wustl.edu 37 10 13570570 13570584 + R DEL GCGGCAGCGGCGGCA GCGGCAGCGGCGGCA - TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 GCGGCAGCGGCGGCA GCGGCAGCGGCGGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 10 13570570 13570584 GCGGCAGCGGCGGCA - DEL ENSG00000227175 ENST00000438431 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.008:0.010:0.011:0.013:0.013:0.014:0.014:0.013:0.013:0.012:0.010:0.008:0.006:0.003 - - - no_errors RP11-214D15.2 Clone_based_vega_gene ENSG00000227175 tier1 COL4A5 0 genome.wustl.edu 37 X 107924142 107924142 + Missense_Mutation SNP G G C TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 X 107924142 107924142 G C SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.4043 p.G1348A 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 40 0 0.00 39 9 18.75 CTNND2 0 genome.wustl.edu 37 5 10973707 10973707 + Missense_Mutation SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 5 10973707 10973707 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.3536 p.R1179H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 60 0 0.00 93 13 12.15 BLOC1S2 0 genome.wustl.edu 37 10 102039885 102039885 + Frame_Shift_Del DEL T T - TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 10 102039885 102039885 T - DEL BLOC1S2 ENST00000370372 human ensembl 74_37 -1 known frame_shift_del c.393 p.K131fs 1.000 pfam_BLOC1_su2 pfam_BLOC1_su2 - no_errors BLOC1S2 HGNC ENSG00000196072 tier1 34 0 0.00 29 3 9.38 TAS2R39 0 genome.wustl.edu 37 7 142881433 142881433 + Missense_Mutation SNP T T A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 7 142881433 142881433 T A SNP TAS2R39 ENST00000446620 human ensembl 74_37 +1 known missense c.922 p.S308T 0.769 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R39 HGNC ENSG00000236398 tier1 - - 33 0 0.00 35 8 18.60 SLC24A2 0 genome.wustl.edu 37 9 19516346 19516346 + Silent SNP A A G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 9 19516346 19516346 A G SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known silent c.1791 p.A597 0.011 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 tier1 - - 27 0 0.00 30 6 16.67 EYS 0 genome.wustl.edu 37 6 64791889 64791889 + Missense_Mutation SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 6 64791889 64791889 C A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.6431 p.G2144V 0.000 superfamily_ConA-like_lec_gl_sf 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 - - 42 0 0.00 99 10 9.17 TNC 0 genome.wustl.edu 37 9 117849123 117849123 + Missense_Mutation SNP T T A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 9 117849123 117849123 T A SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.887 p.E296V 1.000 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 26 0 0.00 29 4 12.12 GRAMD1B 0 genome.wustl.edu 37 11 123479374 123479374 + Silent SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 11 123479374 123479374 C A SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known silent c.1092 p.V364 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 tier1 - - 26 0 0.00 26 9 25.71 TFAP2D 0 genome.wustl.edu 37 6 50696680 50696680 + Missense_Mutation SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 6 50696680 50696680 G A SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.710 p.R237H 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 tier1 - - 37 0 0.00 58 13 18.31 NOS3 0 genome.wustl.edu 37 7 150691049 150691049 + Missense_Mutation SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 7 150691049 150691049 G T SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.158 p.S53I 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 tier1 - - 70 0 0.00 102 14 11.97 PNPLA3 0 genome.wustl.edu 37 22 44335890 44335890 + Nonsense_Mutation SNP A A T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 22 44335890 44335890 A T SNP PNPLA3 ENST00000216180 human ensembl 74_37 +1 known nonsense c.997 p.K333* 0.077 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA3 HGNC ENSG00000100344 tier1 - - 52 0 0.00 55 19 25.68 RPS4XP16 0 genome.wustl.edu 37 13 52035325 52035325 + R SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 13 52035325 52035325 C A SNP RPS4XP16 ENST00000595905 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPS4XP16 HGNC ENSG00000224892 tier1 - - 40 0 0.00 41 4 8.89 NCOA3 0 genome.wustl.edu 37 20 46279839 46279839 + Silent SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 20 46279839 46279839 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3765 p.Q1255 0.598 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 tier1 rs2664555 - 37 0 0.00 49 5 9.26 MIR3613 0 genome.wustl.edu 37 13 50570574 50570574 + R DEL T T - TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 13 50570574 50570574 T - DEL MIR3613 ENST00000579844 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR3613 HGNC ENSG00000264864 tier1 30 0 0.00 31 3 8.82 NPIPA1 0 genome.wustl.edu 37 16 15023483 15023483 + R SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 16 15023483 15023483 C T SNP NPIPA1 ENST00000472413 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NPIPA1 HGNC ENSG00000183426 tier1 - - 12 0 0.00 12 5 29.41 SENP1 0 genome.wustl.edu 37 12 48458904 48458904 + Missense_Mutation SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 12 48458904 48458904 G T SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known missense c.1219 p.Q407K 0.856 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 tier1 - - 32 0 0.00 45 4 8.16 BSN 0 genome.wustl.edu 37 3 49679989 49679989 + Missense_Mutation SNP C C G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 3 49679989 49679989 C G SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.922 p.Q308E 0.320 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 29 0 0.00 23 5 17.86 ZC3H14 0 genome.wustl.edu 37 14 89076098 89076098 + Missense_Mutation SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 14 89076098 89076098 G A SNP ZC3H14 ENST00000251038 human ensembl 74_37 +1 known missense c.2048 p.R683H 1.000 smart_Znf_CCCH smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 tier1 - - 45 0 0.00 22 11 33.33 SIPA1L2 0 genome.wustl.edu 37 1 232601100 232601100 + Missense_Mutation SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 1 232601100 232601100 G T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.2306 p.T769N 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 40 0 0.00 43 4 8.51 PTPRC 0 genome.wustl.edu 37 1 198685831 198685831 + Missense_Mutation SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 1 198685831 198685831 G T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1312 p.D438Y 0.000 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 44 0 0.00 39 10 20.41 TAT 0 genome.wustl.edu 37 16 71606163 71606163 + Missense_Mutation SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 16 71606163 71606163 C T SNP TAT ENST00000355962 human ensembl 74_37 -1 known missense c.632 p.C211Y 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 tier1 - - 58 0 0.00 42 4 8.70 MIR1258 0 genome.wustl.edu 37 2 180725629 180725629 + R SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 2 180725629 180725629 G A SNP MIR1258 ENST00000408313 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors MIR1258 HGNC ENSG00000221240 tier1 - - 20 0 0.00 40 11 21.57 FAM157A 0 genome.wustl.edu 37 3 197896660 197896660 + R SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 3 197896660 197896660 C T SNP FAM157A ENST00000431569 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors FAM157A HGNC ENSG00000236438 tier1 - - 261 0 0.00 339 39 10.32 PIK3CB 0 genome.wustl.edu 37 3 138461596 138461596 + Missense_Mutation SNP T T A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 3 138461596 138461596 T A SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.425 p.D142V 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_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 PIK3CB HGNC ENSG00000051382 tier1 - - 33 0 0.00 44 11 20.00 EXD1 0 genome.wustl.edu 37 15 41483675 41483675 + Missense_Mutation SNP G G C TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 15 41483675 41483675 G C SNP EXD1 ENST00000314992 human ensembl 74_37 -1 known missense c.655 p.L219V 0.267 superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 tier1 - - 197 0 0.00 140 52 27.08 FSIP2 0 genome.wustl.edu 37 2 186655562 186655562 + Missense_Mutation SNP A A C TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 2 186655562 186655562 A C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.3966 p.L1322F 0.998 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 29 0 0.00 44 6 12.00 DH1 0 genome.wustl.edu 37 3 52412622 52412622 + Silent SNP G G C TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 3 52412622 52412622 G C SNP DH1 ENST00000420323 human ensembl 74_37 +1 known silent c.7203 p.G2401 0.784 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DH1 HGNC ENSG00000114841 tier1 - - 78 0 0.00 113 25 18.12 EFCAB4B 0 genome.wustl.edu 37 12 3747504 3747504 + Missense_Mutation SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 12 3747504 3747504 G T SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known missense c.1388 p.P463Q 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 tier1 - - 97 0 0.00 86 27 23.89 OR13F1 0 genome.wustl.edu 37 9 107266907 107266907 + Missense_Mutation SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 9 107266907 107266907 C T SNP OR13F1 ENST00000334726 human ensembl 74_37 +1 known missense c.364 p.R122W 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13F1 HGNC ENSG00000186881 tier1 rs201311592 - 24 0 0.00 31 6 16.22 NDUFA7 0 genome.wustl.edu 37 19 8386227 8386227 + Missense_Mutation SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 19 8386227 8386227 G A SNP NDUFA7 ENST00000301457 human ensembl 74_37 -1 known missense c.16 p.R6C 0.008 pfam_DH-UbQ_OxRdtase_B14.5a_su pfam_DH-UbQ_OxRdtase_B14.5a_su - no_errors NDUFA7 HGNC ENSG00000267855 tier1 - - 19 0 0.00 25 10 28.57 CIR1 0 genome.wustl.edu 37 2 175243727 175243727 + Missense_Mutation SNP A A T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 2 175243727 175243727 A T SNP CIR1 ENST00000342016 human ensembl 74_37 -1 known missense c.408 p.H136Q 1.000 superfamily_Znf_CCHC pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 tier1 - - 56 0 0.00 82 17 17.17 EPHA5 0 genome.wustl.edu 37 4 66509122 66509122 + Missense_Mutation SNP C C G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 4 66509122 66509122 C G SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.205 p.V69L 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 101 0 0.00 111 21 15.91 ARFGEF1 0 genome.wustl.edu 37 8 68170325 68170325 + Missense_Mutation SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 8 68170325 68170325 G T SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.2436 p.N812K 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 tier1 - - 37 0 0.00 39 5 11.36 PI3 0 genome.wustl.edu 37 20 43804753 43804753 + Missense_Mutation SNP A A C TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 20 43804753 43804753 A C SNP PI3 ENST00000243924 human ensembl 74_37 +1 known missense c.331 p.M111L 0.001 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core pfam_Trappin_transglut-bd_rpt,pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core - no_errors PI3 HGNC ENSG00000124102 tier1 - - 29 0 0.00 73 17 18.89 PHF20L1 0 genome.wustl.edu 37 8 133851693 133851693 + Nonsense_Mutation SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 8 133851693 133851693 C A SNP PHF20L1 ENST00000220847 human ensembl 74_37 +1 known nonsense c.414 p.C138* 0.618 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 tier1 - - 66 0 0.00 53 13 19.70 HOPX 0 genome.wustl.edu 37 4 57516895 57516895 + Silent SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 4 57516895 57516895 C T SNP HOPX ENST00000554144 human ensembl 74_37 -1 known silent c.282 p.P94 0.000 NULL superfamily_Homeodomain-like - no_errors HOPX HGNC ENSG00000171476 tier1 rs141906115 GMAF=0.0005 43 0 0.00 63 6 8.70 FGA 0 genome.wustl.edu 37 4 155507582 155507582 + Missense_Mutation SNP G G C TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 4 155507582 155507582 G C SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.999 p.S333R 0.000 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 tier1 - - 43 0 0.00 76 17 18.28 CKAP2L 0 genome.wustl.edu 37 2 113513727 113513727 + Silent SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 2 113513727 113513727 G A SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known silent c.1221 p.N407 0.000 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 tier1 - - 36 0 0.00 45 13 22.41 NLRP12 0 genome.wustl.edu 37 19 54314363 54314363 + Missense_Mutation SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 19 54314363 54314363 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.550 p.A184T 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 tier1 - - 19 0 0.00 36 7 16.28 OR5H6 0 genome.wustl.edu 37 3 97983472 97983472 + Missense_Mutation SNP T T A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 3 97983472 97983472 T A SNP OR5H6 ENST00000383696 human ensembl 74_37 +1 known missense c.344 p.V115E 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 tier1 - - 52 0 0.00 67 18 21.18 ZNF831 0 genome.wustl.edu 37 20 57768815 57768815 + Missense_Mutation SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 20 57768815 57768815 C A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.2741 p.A914E 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 86 0 0.00 222 20 8.23 TTC21B 0 genome.wustl.edu 37 2 166805913 166805913 + Missense_Mutation SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 2 166805913 166805913 G A SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.253 p.P85S 0.946 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 tier1 - - 49 0 0.00 44 15 25.42 FMNL2 0 genome.wustl.edu 37 2 153494158 153494158 + Silent SNP T T C TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 2 153494158 153494158 T C SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known silent c.2916 p.P972 0.016 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 - - 54 0 0.00 82 9 9.89 CACNG5 0 genome.wustl.edu 37 17 64881179 64881179 + Missense_Mutation SNP A A T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 17 64881179 64881179 A T SNP CACNG5 ENST00000307139 human ensembl 74_37 +1 known missense c.650 p.Y217F 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 tier1 - - 28 0 0.00 42 16 27.59 ADAM6 0 genome.wustl.edu 37 14 106437037 106437074 + R DEL CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA - TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 14 106437037 106437074 CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA - DEL ADAM6 ENST00000452053 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.002:0.002:0.003:0.003:0.001:0.000:0.001:0.002:0.002:0.002:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors ADAM6 HGNC ENSG00000233988 tier1 CXorf64 0 genome.wustl.edu 37 X 125954692 125954692 + Missense_Mutation SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 X 125954692 125954692 G T SNP CXorf64 ENST00000371125 human ensembl 74_37 +1 known missense c.71 p.G24V 0.000 NULL NULL - no_errors CXorf64 HGNC ENSG00000183631 tier1 - - 23 0 0.00 13 12 48.00 ZNF665 0 genome.wustl.edu 37 19 53678802 53678802 + Missense_Mutation SNP A A G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 19 53678802 53678802 A G SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.38 p.V13A 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC ENSG00000197497 tier1 - - 86 0 0.00 152 17 10.00 GCK 0 genome.wustl.edu 37 7 44189417 44189417 + Silent SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 7 44189417 44189417 C A SNP GCK ENST00000345378 human ensembl 74_37 -1 known silent c.624 p.V208 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 tier1 - - 33 0 0.00 30 16 34.78 DACH1 0 genome.wustl.edu 37 13 72440659 72440664 + In_Frame_Del DEL GCCGCC GCCGCC - TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 GCCGCC GCCGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 13 72440659 72440664 GCCGCC - DEL DACH1 ENST00000359684 human ensembl 74_37 -1 known in_frame_del c.249_244 p.GG82in_frame_del 0.750:0.744:0.739:0.734:0.729:0.725 NULL pfam_Transform_Ski,superfamily_D-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 tier1 DAND5 0 genome.wustl.edu 37 19 13084345 13084345 + Missense_Mutation SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 19 13084345 13084345 C T SNP DAND5 ENST00000317060 human ensembl 74_37 +1 known missense c.467 p.A156V 0.000 pfam_DAN,pirsf_Cerberus pfam_DAN,pirsf_Cerberus - no_errors DAND5 HGNC ENSG00000179284 tier1 - - 36 0 0.00 44 18 29.03 OGN 0 genome.wustl.edu 37 9 95155370 95155370 + Missense_Mutation SNP A A G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 9 95155370 95155370 A G SNP OGN ENST00000262551 human ensembl 74_37 -1 known missense c.425 p.I142T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC ENSG00000106809 tier1 - - 63 0 0.00 76 14 15.56 NUCB2 0 genome.wustl.edu 37 11 17316992 17316992 + Missense_Mutation SNP A A G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 11 17316992 17316992 A G SNP NUCB2 ENST00000323688 human ensembl 74_37 +1 known missense c.122 p.E41G 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NUCB2 HGNC ENSG00000070081 tier1 - - 59 0 0.00 68 8 10.53 DUSP10 0 genome.wustl.edu 37 1 221875662 221875662 + R DEL A A - TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 1 221875662 221875662 A - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 13 0 0.00 16 3 15.79 PSG11 0 genome.wustl.edu 37 19 43523004 43523004 + Missense_Mutation SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 19 43523004 43523004 C A SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known missense c.627 p.K209N 0.003 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 tier1 rs142166158 - 166 0 0.00 201 29 12.61 LILRB3 0 genome.wustl.edu 37 19 54723010 54723010 + Missense_Mutation SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 19 54723010 54723010 G A SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known missense c.1465 p.H489Y 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 tier1 - - 58 0 0.00 58 7 10.77 WFIKKN2 0 genome.wustl.edu 37 17 48917817 48917817 + Missense_Mutation SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 17 48917817 48917817 G A SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.1168 p.A390T 0.883 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 tier1 - - 33 0 0.00 57 9 13.64 PCDHAC2 0 genome.wustl.edu 37 5 140347067 140347067 + Missense_Mutation SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 5 140347067 140347067 G T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.716 p.G239V 1.000 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 PCDHAC2 HGNC ENSG00000243232 tier1 - - 30 0 0.00 35 9 20.45 AURKB 0 genome.wustl.edu 37 17 8110163 8110163 + Missense_Mutation SNP T T A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 17 8110163 8110163 T A SNP AURKB ENST00000585124 human ensembl 74_37 -1 known missense c.442 p.R148W 0.009 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKB HGNC ENSG00000178999 tier1 - - 64 0 0.00 43 13 23.21 ARVCF 0 genome.wustl.edu 37 22 19961646 19961646 + Missense_Mutation SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 22 19961646 19961646 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.2077 p.G693S 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 - - 72 0 0.00 89 42 32.06 SLC2A13 0 genome.wustl.edu 37 12 40345132 40345132 + Missense_Mutation SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 12 40345132 40345132 G T SNP SLC2A13 ENST00000280871 human ensembl 74_37 -1 known missense c.961 p.P321T 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 tier1 - - 92 0 0.00 96 24 19.83 ENSG00000233207 0 genome.wustl.edu 37 9 42366967 42366967 + R SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 9 42366967 42366967 C A SNP ENSG00000233207 ENST00000450520 human ensembl 74_37 -1 known rna NULL NULL 0.126 - - - no_errors RP11-216M21.7 Clone_based_vega_gene ENSG00000233207 tier1 - - 18 0 0.00 13 13 50.00 TC2N 0 genome.wustl.edu 37 14 92268696 92268696 + Missense_Mutation SNP T T G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 14 92268696 92268696 T G SNP TC2N ENST00000340892 human ensembl 74_37 -1 known missense c.371 p.Y124S 0.980 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors TC2N HGNC ENSG00000165929 tier1 - - 63 0 0.00 49 10 16.95 SLC4A9 0 genome.wustl.edu 37 5 139751133 139751133 + Missense_Mutation SNP C C G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 5 139751133 139751133 C G SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.2666 p.T889R 1.000 pfam_HCO3_transpt_C,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 SLC4A9 HGNC ENSG00000113073 tier1 - - 25 0 0.00 27 8 22.86 TMEM67 0 genome.wustl.edu 37 8 94827578 94827578 + Missense_Mutation SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 8 94827578 94827578 C T SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.2810 p.A937V 1.000 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 tier1 - - 42 0 0.00 46 11 19.30 FAT3 0 genome.wustl.edu 37 11 92568224 92568224 + Missense_Mutation SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 11 92568224 92568224 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10060 p.A3354T 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 36 0 0.00 41 12 22.64 OSBPL3 0 genome.wustl.edu 37 7 24839766 24839766 + R SNP A A G TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 7 24839766 24839766 A G SNP OSBPL3 ENST00000487020 human ensembl 74_37 -1 known rna NULL NULL 0.111 - - - no_errors OSBPL3 HGNC ENSG00000070882 tier1 - - 45 0 0.00 37 18 32.73 CLEC9A 0 genome.wustl.edu 37 12 10205421 10205421 + R DEL T T - TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 12 10205421 10205421 T - DEL CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 46 0 0.00 36 4 10.00 LOC100293748 0 genome.wustl.edu 37 1 149265408 149265411 + R DEL TTTG TTTG - TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 TTTG TTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 1 149265408 149265411 TTTG - DEL LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 0.054:0.053:0.077:0.148 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 tier1 22 0 0.00 21 5 19.23 RSC1A1 0 genome.wustl.edu 37 1 15987514 15987514 + Missense_Mutation SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 1 15987514 15987514 C T SNP RSC1A1 ENST00000345034 human ensembl 74_37 +1 known missense c.1151 p.T384I 0.002 NULL superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors RSC1A1 HGNC ENSG00000215695 tier1 - - 33 0 0.00 19 26 57.78 TRPC2 0 genome.wustl.edu 37 11 3657344 3657344 + R SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 11 3657344 3657344 C A SNP TRPC2 ENST00000526541 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors TRPC2 HGNC ENSG00000182048 tier1 - - 65 0 0.00 44 20 30.77 NTN4 0 genome.wustl.edu 37 12 96180807 96180807 + Silent SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 12 96180807 96180807 G A SNP NTN4 ENST00000343702 human ensembl 74_37 -1 known silent c.495 p.S165 0.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 tier1 - - 50 0 0.00 68 11 13.92 ENSG00000161103 0 genome.wustl.edu 37 22 18839191 18839191 + R SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 22 18839191 18839191 C T SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.057 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 - - 10 0 0.00 18 9 33.33 NRXN1 0 genome.wustl.edu 37 2 50170914 50170914 + Missense_Mutation SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 2 50170914 50170914 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.4120 p.L1374F 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 46 0 0.00 61 11 15.28 PWP2 0 genome.wustl.edu 37 21 45539347 45539347 + Silent SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 21 45539347 45539347 G A SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known silent c.1131 p.V377 0.836 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 tier1 - - 81 0 0.00 94 18 16.07 ARHGAP21 0 genome.wustl.edu 37 10 24885661 24885661 + Missense_Mutation SNP T T A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 10 24885661 24885661 T A SNP ARHGAP21 ENST00000376410 human ensembl 74_37 -1 known missense c.3455 p.D1152V 0.049 NULL pfam_Pleckstrin_homology,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 50 0 0.00 77 20 20.62 SOX7 0 genome.wustl.edu 37 8 10584160 10584160 + Silent SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 8 10584160 10584160 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known silent c.411 p.A137 0.721 pfam_HMG_box_dom,superfamily_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 tier1 - - 28 0 0.00 33 8 19.51 PIK3CD 0 genome.wustl.edu 37 1 9782110 9782114 + Frame_Shift_Del DEL CAAGG CAAGG - TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 CAAGG CAAGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 1 9782110 9782114 CAAGG - DEL PIK3CD ENST00000536656 human ensembl 74_37 +1 known frame_shift_del c.2205_2209 p.K736fs 0.944:1.000:1.000:1.000:1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_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 PIK3CD HGNC ENSG00000171608 tier1 SNORA72 0 genome.wustl.edu 37 8 99054503 99054504 + R INS - - T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 8 99054503 99054504 - T INS SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 tier1 19 0 0.00 16 4 20.00 TTN 0 genome.wustl.edu 37 2 179604055 179604055 + Silent SNP C C A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 2 179604055 179604055 C A SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.13392 p.V4464 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 35 0 0.00 56 12 17.65 MUM1L1 0 genome.wustl.edu 37 X 105450550 105450550 + Silent SNP C C T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 212c9fc6-ae69-4115-8ca0-8915d905ee53 a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7 X 105450550 105450550 C T SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known silent c.1125 p.D375 0.003 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 tier1 - - 32 0 0.00 17 19 52.78