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 KIAA1549L 0 genome.wustl.edu 37 11 33569421 33569421 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 11 33569421 33569421 C T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.2624 p.A875V 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 43 0 0.00 20 11 35.48 110 0 0.00 63 23 26.74 PRPF6 0 genome.wustl.edu 37 20 62614400 62614400 + Silent SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 20 62614400 62614400 C T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known silent c.72 p.G24 0.848 pfam_PRP1_N pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 tier1 - - 44 0 0.00 32 13 28.89 60 0 0.00 54 13 19.40 HIP1 0 genome.wustl.edu 37 7 75228536 75228536 + Silent SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 7 75228536 75228536 C T SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known silent c.150 p.T50 0.695 pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 tier1 - - 43 0 0.00 37 8 17.78 93 0 0.00 104 22 17.46 DJC6 0 genome.wustl.edu 37 1 65871755 65871755 + Silent SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 1 65871755 65871755 C T SNP DJC6 ENST00000371069 human ensembl 74_37 +1 known silent c.2430 p.N810 0.096 superfamily_DnaJ_domain pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DJC6 HGNC ENSG00000116675 tier1 - - 62 0 0.00 28 13 31.71 94 0 0.00 81 31 27.68 CSMD1 0 genome.wustl.edu 37 8 3265506 3265506 + Missense_Mutation SNP C C A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 8 3265506 3265506 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.1989 p.Q663H 0.991 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 30 0 0.00 37 10 21.28 103 0 0.00 88 29 24.79 ASIP 0 genome.wustl.edu 37 20 32848194 32848194 + Missense_Mutation SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 20 32848194 32848194 G A SNP ASIP ENST00000374954 human ensembl 74_37 +1 known missense c.14 p.R5H 0.668 NULL pfam_Agouti,superfamily_Agouti_dom,smart_Agouti,pfscan_Agouti_dom - no_errors ASIP HGNC ENSG00000101440 tier1 rs145074053 - 52 0 0.00 57 13 18.57 74 0 0.00 52 12 18.75 TMEM2 0 genome.wustl.edu 37 9 74360217 74360217 + Missense_Mutation SNP C C A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 9 74360217 74360217 C A SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.751 p.G251C 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 tier1 rs139832017 - 46 0 0.00 42 12 21.82 106 0 0.00 109 32 22.70 TAF1D 0 genome.wustl.edu 37 11 93468208 93468208 + R SNP T T A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 11 93468208 93468208 T A SNP TAF1D ENST00000530089 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TAF1D HGNC ENSG00000166012 tier1 - - 32 0 0.00 15 8 34.78 30 0 0.00 16 9 36.00 PLEC 0 genome.wustl.edu 37 8 144995433 144995433 + Silent SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 8 144995433 144995433 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.8967 p.G2989 1.000 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 60 0 0.00 58 17 22.67 10 0 0.00 10 3 23.08 HIST1H3E 0 genome.wustl.edu 37 6 26225736 26225736 + Silent SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 6 26225736 26225736 G A SNP HIST1H3E ENST00000360408 human ensembl 74_37 +1 known silent c.354 p.V118 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC ENSG00000196966 tier1 - - 91 0 0.00 60 16 21.05 57 0 0.00 49 12 19.67 FGF23 0 genome.wustl.edu 37 12 4488550 4488550 + Nonsense_Mutation SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 4488550 4488550 G A SNP FGF23 ENST00000237837 human ensembl 74_37 -1 known nonsense c.199 p.Q67* 0.992 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 tier1 - - 22 0 0.00 13 5 27.78 105 0 0.00 49 25 33.78 ZC2HC1A 0 genome.wustl.edu 37 8 79609735 79609735 + Missense_Mutation SNP G G T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 8 79609735 79609735 G T SNP ZC2HC1A ENST00000263849 human ensembl 74_37 +1 known missense c.598 p.V200F 0.868 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 tier1 - - 76 0 0.00 85 11 11.46 160 0 0.00 148 30 16.85 CHMP7 0 genome.wustl.edu 37 8 23115855 23115855 + Missense_Mutation SNP C C G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 8 23115855 23115855 C G SNP CHMP7 ENST00000313219 human ensembl 74_37 +1 known missense c.853 p.L285V 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 tier1 - - 23 0 0.00 23 12 34.29 46 0 0.00 84 10 10.53 TERT 0 genome.wustl.edu 37 5 1279444 1279444 + Missense_Mutation SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 5 1279444 1279444 G A SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.2092 p.R698W 0.757 pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 tier1 - - 75 0 0.00 84 29 25.66 18 0 0.00 15 8 34.78 TIGD7 0 genome.wustl.edu 37 16 3350579 3350579 + Missense_Mutation SNP C C A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 16 3350579 3350579 C A SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.36 p.L12F 1.000 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_D-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_D-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 tier1 - - 77 0 0.00 29 19 38.78 159 0 0.00 72 33 31.43 GDF2 0 genome.wustl.edu 37 10 48414171 48414171 + Missense_Mutation SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 10 48414171 48414171 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.697 p.H233Y 0.615 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 tier1 - - 29 0 0.00 25 6 19.35 52 0 0.00 45 16 26.23 WNK2 0 genome.wustl.edu 37 9 96021357 96021357 + Missense_Mutation SNP C C G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 9 96021357 96021357 C G SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.2527 p.L843V 0.775 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 WNK2 HGNC ENSG00000165238 tier1 - - 167 0 0.00 178 55 23.61 32 0 0.00 46 13 22.03 KAT7 0 genome.wustl.edu 37 17 47903406 47903406 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 17 47903406 47903406 C T SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known missense c.1525 p.R509C 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 tier1 - - 110 1 0.90 37 22 37.29 34 0 0.00 22 6 21.43 MIP 0 genome.wustl.edu 37 12 56847521 56847521 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 56847521 56847521 C T SNP MIP ENST00000257979 human ensembl 74_37 -1 known missense c.379 p.V127M 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 tier1 - - 23 0 0.00 12 6 33.33 43 0 0.00 52 17 24.64 ZNF592 0 genome.wustl.edu 37 15 85327615 85327615 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 15 85327615 85327615 C T SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.1709 p.P570L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 tier1 - - 52 0 0.00 44 16 26.23 110 1 0.90 105 27 20.30 CPZ 0 genome.wustl.edu 37 4 8609140 8609140 + Silent SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 4 8609140 8609140 G A SNP CPZ ENST00000360986 human ensembl 74_37 +1 known silent c.1215 p.T405 0.006 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 tier1 - - 55 0 0.00 26 16 37.21 94 0 0.00 65 35 34.65 LINC00473 0 genome.wustl.edu 37 6 166401082 166401082 + R SNP A A T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 6 166401082 166401082 A T SNP LINC00473 ENST00000444465 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00473 HGNC ENSG00000223414 tier1 - - 25 0 0.00 15 8 34.78 29 0 0.00 23 13 36.11 CHD1 0 genome.wustl.edu 37 5 98236658 98236658 + Missense_Mutation SNP T T A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 5 98236658 98236658 T A SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.716 p.N239I 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 - - 39 0 0.00 26 5 16.13 103 0 0.00 70 42 37.50 SEMA5A 0 genome.wustl.edu 37 5 9063189 9063189 + Silent SNP C C A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 5 9063189 9063189 C A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.2328 p.G776 0.014 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 tier1 rs142331748 - 27 0 0.00 33 8 19.51 132 0 0.00 136 27 16.56 CAB39L 0 genome.wustl.edu 37 13 49925039 49925039 + Silent SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 13 49925039 49925039 G A SNP CAB39L ENST00000347776 human ensembl 74_37 -1 known silent c.405 p.A135 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 tier1 - - 56 0 0.00 28 11 27.50 162 0 0.00 100 36 26.47 LRRC69 0 genome.wustl.edu 37 8 92136873 92136873 + R SNP T T G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 8 92136873 92136873 T G SNP LRRC69 ENST00000522144 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors LRRC69 HGNC ENSG00000214954 tier1 - - 62 0 0.00 42 21 33.33 112 0 0.00 78 66 45.83 PRKACG 0 genome.wustl.edu 37 9 71628289 71628289 + Silent SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 9 71628289 71628289 G A SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known silent c.720 p.Y240 0.998 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,prints_Ser-Thr/Tyr_kinase_cat_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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 tier1 - - 36 0 0.00 16 5 23.81 63 1 1.56 25 31 55.36 LCN 0 genome.wustl.edu 37 13 101936334 101936334 + Missense_Mutation SNP C C A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 13 101936334 101936334 C A SNP LCN ENST00000251127 human ensembl 74_37 -1 known missense c.1084 p.V362L 1.000 NULL pfam_Ion_trans_dom - no_errors LCN HGNC ENSG00000102452 tier1 - - 87 0 0.00 47 25 34.72 72 0 0.00 56 17 23.29 SCN8A 0 genome.wustl.edu 37 12 52145167 52145167 + Silent SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 52145167 52145167 G A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.2160 p.P720 0.002 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 67 0 0.00 35 9 20.45 72 0 0.00 69 22 24.18 TRIOBP 0 genome.wustl.edu 37 22 38120154 38120154 + Missense_Mutation SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 22 38120154 38120154 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.1591 p.A531T 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 rs201112075 - 165 0 0.00 129 33 20.12 47 0 0.00 57 18 23.68 C2CD5 0 genome.wustl.edu 37 12 22670939 22670939 + Missense_Mutation SNP C C G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 22670939 22670939 C G SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known missense c.933 p.L311F 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 tier1 - - 61 0 0.00 19 13 40.62 106 0 0.00 41 31 43.06 DYNC1I1 0 genome.wustl.edu 37 7 95625320 95625320 + Missense_Mutation SNP G G C TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 7 95625320 95625320 G C SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known missense c.955 p.G319R 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 tier1 - - 88 0 0.00 53 37 41.11 202 0 0.00 113 75 39.89 RHOT2 0 genome.wustl.edu 37 16 720824 720824 + R SNP C C A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 16 720824 720824 C A SNP RHOT2 ENST00000569943 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RHOT2 HGNC ENSG00000140983 tier1 - - 147 0 0.00 82 45 35.43 56 0 0.00 36 17 32.08 SNORD109A 0 genome.wustl.edu 37 15 25287126 25287126 + R SNP G G T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 15 25287126 25287126 G T SNP SNORD109A ENST00000459128 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors SNORD109A HGNC ENSG00000270246 tier1 - - 98 0 0.00 43 18 29.51 112 0 0.00 53 16 23.19 DST 0 genome.wustl.edu 37 6 56489356 56489356 + Missense_Mutation SNP T T G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 6 56489356 56489356 T G SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.4802 p.D1601A 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 32 0 0.00 19 8 29.63 107 0 0.00 89 24 21.24 PCLO 0 genome.wustl.edu 37 7 82544714 82544714 + Silent SNP A A G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 7 82544714 82544714 A G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.12588 p.I4196 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 46 0 0.00 47 7 12.96 127 0 0.00 135 20 12.90 DYNC1H1 0 genome.wustl.edu 37 14 102505858 102505858 + Missense_Mutation SNP C C G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 14 102505858 102505858 C G SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.11570 p.S3857C 0.902 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 33 0 0.00 19 13 40.62 112 0 0.00 90 28 23.73 SRPX2 0 genome.wustl.edu 37 X 99905881 99905881 + R SNP C C G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 X 99905881 99905881 C G SNP SRPX2 ENST00000481988 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SRPX2 HGNC ENSG00000102359 tier1 - - 23 0 0.00 17 5 21.74 48 0 0.00 49 24 32.88 CLDN10 0 genome.wustl.edu 37 13 96212707 96212707 + Missense_Mutation SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 13 96212707 96212707 G A SNP CLDN10 ENST00000299339 human ensembl 74_37 +1 known missense c.454 p.V152I 0.700 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin10,prints_Claudin - no_errors CLDN10 HGNC ENSG00000134873 tier1 - - 39 0 0.00 33 18 35.29 146 0 0.00 53 38 41.76 CDH11 0 genome.wustl.edu 37 16 65016106 65016106 + Missense_Mutation SNP G G T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 16 65016106 65016106 G T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1098 p.D366E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 103 0 0.00 40 18 31.03 131 0 0.00 51 33 39.29 DYNC1H1 0 genome.wustl.edu 37 14 102505775 102505775 + Silent SNP C C G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 14 102505775 102505775 C G SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.11487 p.L3829 0.620 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 61 0 0.00 48 14 22.58 120 0 0.00 126 28 18.18 PCDHA8 0 genome.wustl.edu 37 5 140222280 140222280 + Silent SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 5 140222280 140222280 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.1374 p.P458 0.001 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 103 0 0.00 136 33 19.41 38 0 0.00 27 9 25.00 CHST11 0 genome.wustl.edu 37 12 105151192 105151192 + Missense_Mutation SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 105151192 105151192 G A SNP CHST11 ENST00000303694 human ensembl 74_37 +1 known missense c.670 p.A224T 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST11 HGNC ENSG00000171310 tier1 - - 54 0 0.00 76 8 9.52 47 0 0.00 116 24 17.14 BLNK 0 genome.wustl.edu 37 10 98031113 98031113 + Silent SNP A A G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 10 98031113 98031113 A G SNP BLNK ENST00000224337 human ensembl 74_37 -1 known silent c.43 p.L15 0.987 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 tier1 - - 77 0 0.00 34 13 27.08 125 0 0.00 59 20 25.32 IQCG 0 genome.wustl.edu 37 3 197639636 197639636 + R SNP G G T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 3 197639636 197639636 G T SNP IQCG ENST00000469822 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors IQCG HGNC ENSG00000114473 tier1 - - 71 0 0.00 40 16 28.57 101 0 0.00 48 22 31.43 EVI2A 0 genome.wustl.edu 37 17 29645499 29645499 + Missense_Mutation SNP C C G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 17 29645499 29645499 C G SNP EVI2A ENST00000247270 human ensembl 74_37 -1 known missense c.602 p.R201T 1.000 pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A - no_errors EVI2A HGNC ENSG00000126860 tier1 - - 37 0 0.00 27 17 38.64 88 0 0.00 54 25 31.65 DYNC1H1 0 genome.wustl.edu 37 14 102504807 102504807 + Missense_Mutation SNP G G C TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 14 102504807 102504807 G C SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.10919 p.S3640T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 49 0 0.00 42 12 22.22 140 0 0.00 114 33 22.45 DYNC1H1 0 genome.wustl.edu 37 14 102505585 102505585 + Silent SNP C C G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 14 102505585 102505585 C G SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.11454 p.L3818 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 90 0 0.00 58 19 24.68 32 0 0.00 38 21 35.59 OR52A5 0 genome.wustl.edu 37 11 5153475 5153475 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 11 5153475 5153475 C T SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.398 p.R133K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 tier1 - - 48 0 0.00 26 8 23.53 125 1 0.79 56 26 31.71 KRTAP13-3 0 genome.wustl.edu 37 21 31797893 31797893 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 21 31797893 31797893 C T SNP KRTAP13-3 ENST00000390690 human ensembl 74_37 -1 known missense c.338 p.G113E 0.026 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-3 HGNC ENSG00000240432 tier1 - - 34 0 0.00 15 12 44.44 71 0 0.00 32 9 21.95 PIK3CA 0 genome.wustl.edu 37 3 178936094 178936094 + Missense_Mutation SNP C C A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 3 178936094 178936094 C A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1636 p.Q546K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-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 PIK3CA HGNC ENSG00000121879 tier1 rs121913286 - 55 0 0.00 35 18 33.96 120 0 0.00 39 15 27.78 SCN2A 0 genome.wustl.edu 37 2 166188073 166188073 + Missense_Mutation SNP A A T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 2 166188073 166188073 A T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.2383 p.N795Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 57 0 0.00 26 11 29.73 140 0 0.00 61 36 37.11 VN1R4 0 genome.wustl.edu 37 19 53770511 53770511 + Silent SNP G G T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 19 53770511 53770511 G T SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known silent c.408 p.I136 0.003 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 tier1 - - 133 0 0.00 140 40 22.22 73 0 0.00 93 23 19.83 WDR7 0 genome.wustl.edu 37 18 54424260 54424260 + Missense_Mutation SNP G G C TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 18 54424260 54424260 G C SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.2436 p.L812F 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 tier1 - - 65 0 0.00 27 6 18.18 129 0 0.00 63 28 30.77 CCDC103 0 genome.wustl.edu 37 17 42978925 42978925 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 17 42978925 42978925 C T SNP CCDC103 ENST00000410006 human ensembl 74_37 +1 known missense c.181 p.R61W 0.742 NULL NULL - no_errors CCDC103 HGNC ENSG00000167131 tier1 - - 67 0 0.00 22 9 29.03 127 0 0.00 53 32 37.65 KIAA1109 0 genome.wustl.edu 37 4 123150375 123150375 + Missense_Mutation SNP G G C TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 4 123150375 123150375 G C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.3022 p.G1008R 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 65 0 0.00 32 14 30.43 162 0 0.00 61 29 32.22 SPTA1 0 genome.wustl.edu 37 1 158648297 158648297 + Missense_Mutation SNP G G C TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 1 158648297 158648297 G C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.706 p.Q236E 0.011 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 67 0 0.00 32 13 28.26 88 0 0.00 29 14 32.56 PMEL 0 genome.wustl.edu 37 12 56355132 56355132 + Silent SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 56355132 56355132 C T SNP PMEL ENST00000360714 human ensembl 74_37 -1 known silent c.303 p.Q101 0.999 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 tier1 - - 27 0 0.00 35 8 18.60 114 0 0.00 97 31 24.22 KIR3DX1 0 genome.wustl.edu 37 19 55045167 55045167 + Missense_Mutation SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 19 55045167 55045167 G A SNP KIR3DX1 ENST00000335056 human ensembl 74_37 +1 known missense c.287 p.G96E 0.001 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors KIR3DX1 HGNC ENSG00000104970 tier1 - - 77 0 0.00 77 18 18.95 86 0 0.00 79 23 22.55 AXL 0 genome.wustl.edu 37 19 41748828 41748828 + Missense_Mutation SNP G G C TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 19 41748828 41748828 G C SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.1353 p.W451C 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 tier1 - - 41 0 0.00 45 12 21.05 120 0 0.00 130 24 15.58 ZNF398 0 genome.wustl.edu 37 7 148851394 148851394 + Silent SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 7 148851394 148851394 C T SNP ZNF398 ENST00000540950 human ensembl 74_37 +1 known silent c.397 p.L133 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 tier1 - - 87 0 0.00 36 17 32.08 79 0 0.00 48 23 32.39 KIR3DX1 0 genome.wustl.edu 37 19 55054687 55054687 + R SNP C C A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 19 55054687 55054687 C A SNP KIR3DX1 ENST00000482404 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KIR3DX1 HGNC ENSG00000104970 tier1 - - 72 0 0.00 77 18 18.95 119 0 0.00 163 22 11.89 CCDC60 0 genome.wustl.edu 37 12 119943003 119943003 + Missense_Mutation SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 119943003 119943003 G A SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.778 p.G260S 0.246 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 57 0 0.00 68 14 17.07 70 0 0.00 113 13 10.24 IFT52 0 genome.wustl.edu 37 20 42275584 42275584 + Silent SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 20 42275584 42275584 C T SNP IFT52 ENST00000373030 human ensembl 74_37 +1 known silent c.1275 p.D425 0.349 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 tier1 - - 81 0 0.00 60 22 26.83 112 0 0.00 97 26 20.80 LRRC16B 0 genome.wustl.edu 37 14 24538444 24538444 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 14 24538444 24538444 C T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.4081 p.P1361S 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 tier1 - - 31 0 0.00 21 16 43.24 37 0 0.00 19 10 34.48 DCC 0 genome.wustl.edu 37 18 51056781 51056781 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 18 51056781 51056781 C T SNP DCC ENST00000581580 human ensembl 74_37 +1 putative missense c.3218 p.S1073L 0.080 NULL pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 68 0 0.00 30 10 25.00 95 0 0.00 58 29 33.33 KAT7 0 genome.wustl.edu 37 17 47903425 47903426 + Frame_Shift_Ins INS - - GC TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 - - - GC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 17 47903425 47903426 - GC INS KAT7 ENST00000259021 human ensembl 74_37 +1 known frame_shift_ins c.1544_1545 p.L516fs 1.000:0.989 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 tier1 108 0 0.00 35 27 43.55 42 0 0.00 18 17 48.57 KDM5A 0 genome.wustl.edu 37 12 464396 464397 + Frame_Shift_Del DEL TC TC - TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 TC TC TC - TC TC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 464396 464397 TC - DEL KDM5A ENST00000399788 human ensembl 74_37 -1 known frame_shift_del c.798_797 p.R266fs 1.000:1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_D-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_D-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_D-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_D-bd - no_errors KDM5A HGNC ENSG00000073614 tier1 47 0 0.00 26 8 23.53 160 0 0.00 62 24 27.91 DDX5 0 genome.wustl.edu 37 17 62500099 62500102 + Frame_Shift_Del DEL ACAG ACAG - TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 ACAG ACAG ACAG - ACAG ACAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 17 62500099 62500102 ACAG - DEL DDX5 ENST00000225792 human ensembl 74_37 -1 known frame_shift_del c.443_440 p.S147fs 1.000:1.000:1.000:1.000 pfam_D/R_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_D/R_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 tier1 30 0 0.00 15 8 34.78 104 0 0.00 58 21 26.58 ALLC 0 genome.wustl.edu 37 2 3750075 3750075 + Silent SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 2 3750075 3750075 C T SNP ALLC ENST00000252505 human ensembl 74_37 +1 known silent c.1098 p.F366 0.993 superfamily_Galactose-bd-like pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 tier1 - - 19 0 0.00 12 5 29.41 12 0 0.00 7 2 22.22 C16orf86 0 genome.wustl.edu 37 16 67700794 67700794 + R SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 16 67700794 67700794 G A SNP C16orf86 ENST00000602974 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf86 HGNC ENSG00000159761 tier1 - - 8 0 0.00 16 11 40.74 9 0 0.00 3 2 40.00 MISP 0 genome.wustl.edu 37 19 758081 758081 + Missense_Mutation SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 19 758081 758081 G A SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.1135 p.D379N 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 tier1 - - 37 0 0.00 33 10 23.26 12 0 0.00 8 7 46.67 NXN 0 genome.wustl.edu 37 17 708474 708474 + Silent SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 17 708474 708474 G A SNP NXN ENST00000336868 human ensembl 74_37 -1 known silent c.834 p.L278 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 tier1 rs193165884 GMAF=0.0005 113 0 0.00 101 83 44.86 10 0 0.00 9 11 55.00 ARMC10 0 genome.wustl.edu 37 7 102738973 102738973 + Missense_Mutation SNP G G T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 7 102738973 102738973 G T SNP ARMC10 ENST00000323716 human ensembl 74_37 +1 known missense c.1005 p.K335N 0.996 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC10 HGNC ENSG00000170632 tier1 - - 127 0 0.00 69 13 15.85 107 0 0.00 80 7 8.05 ENSG00000253334 0 genome.wustl.edu 37 8 82727640 82727641 + R INS - - A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 8 82727640 82727641 - A INS ENSG00000253334 ENST00000524337 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.496 - - - no_errors RP13-923O23.6 Clone_based_vega_gene ENSG00000253334 tier1 20 0 0.00 34 4 10.53 115 1 0.86 122 5 3.94 HOOK3 0 genome.wustl.edu 37 8 42873625 42873625 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 8 42873625 42873625 C T SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.2141 p.P714L 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SRE - no_errors HOOK3 HGNC ENSG00000168172 tier1 - - 43 0 0.00 27 18 40.00 48 1 2.04 33 26 43.33 OR2B11 0 genome.wustl.edu 37 1 247614903 247614903 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 1 247614903 247614903 C T SNP OR2B11 ENST00000318749 human ensembl 74_37 -1 known missense c.382 p.V128M 0.666 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B11 HGNC ENSG00000177535 tier1 - - 32 0 0.00 14 9 39.13 47 1 2.08 21 8 27.59 PYROXD1 0 genome.wustl.edu 37 12 21590706 21590715 + Frame_Shift_Del DEL GGTGGTCGGC GGTGGTCGGC - TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 GGTGGTCGGC GGTGGTCGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 21590706 21590715 GGTGGTCGGC - DEL PYROXD1 ENST00000240651 human ensembl 74_37 +1 known frame_shift_del c.42_51 p.V15fs 1.000:1.000:1.000:1.000:1.000:0.995:0.789:0.996:0.998:0.978 pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_FAD_pyr_nucl-diS_OxRdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 tier1 6 0 0.00 0 0 0.00 6 0 0.00 0 0 0.00 SSPO 0 genome.wustl.edu 37 7 149509072 149509072 + R SNP G G A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 7 149509072 149509072 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 32 0 0.00 32 4 11.11 18 0 0.00 7 0 0.00 YWHAE 0 genome.wustl.edu 37 17 1265304 1265305 + Splice_Site INS - - A TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 17 1265304 1265305 - A INS YWHAE ENST00000264335 human ensembl 74_37 -1 known splice_site_ins c.265-3_265-2 e3-2 1.000:0.895 - - - no_errors YWHAE HGNC ENSG00000108953 tier1 35 0 0.00 40 5 11.11 8 0 0.00 7 0 0.00 AGPS 0 genome.wustl.edu 37 2 178257538 178257538 + Silent SNP A A G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 2 178257538 178257538 A G SNP AGPS ENST00000264167 human ensembl 74_37 +1 known silent c.21 p.A7 0.895 NULL pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 tier1 - - 27 0 0.00 23 5 17.86 3 0 0.00 5 0 0.00 GRAMD1A 0 genome.wustl.edu 37 19 35491326 35491327 + R INS - - GCCCT TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 19 35491326 35491327 - GCCCT INS GRAMD1A ENST00000603669 human ensembl 74_37 +1 known rna NULL NULL 0.780:0.776 - - - no_errors GRAMD1A HGNC ENSG00000089351 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 IL17B 0 genome.wustl.edu 37 5 148753976 148753976 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 5 148753976 148753976 C T SNP IL17B ENST00000261796 human ensembl 74_37 -1 known missense c.499 p.A167T 0.002 pfam_IL-17_fam,prints_IL-17_chr pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17B HGNC ENSG00000127743 tier1 - - 28 0 0.00 33 16 32.65 4 0 0.00 4 0 0.00 MMP17 0 genome.wustl.edu 37 12 132313098 132313099 + In_Frame_Ins INS - - GCTGCCGCT TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 132313098 132313099 - GCTGCCGCT INS MMP17 ENST00000360564 human ensembl 74_37 +1 known in_frame_ins c.59_60 p.24in_frame_insLPL 0.023:0.052 pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 MT-CO2 0 genome.wustl.edu 37 MT 7988 7988 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 MT 7988 7988 C T SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.403 p.L135F NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 252 0 0.00 55 122 68.93 0 0 0.00 0 0 0.00 TBX3 0 genome.wustl.edu 37 12 115109883 115109883 + Silent SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 115109883 115109883 C T SNP TBX3 ENST00000257566 human ensembl 74_37 -1 known silent c.1995 p.A665 0.509 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 tier1 - - 33 0 0.00 37 6 13.95 4 0 0.00 2 1 33.33 LOC100190940 0 genome.wustl.edu 37 12 130521234 130521235 + R INS - - AAA TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 12 130521234 130521235 - AAA INS LOC100190940 ENST00000291374 human ensembl 74_37 -1 known rna NULL NULL 0.029:0.046 - - - no_errors RP11-474D1.3 Clone_based_vega_gene ENSG00000214039 tier1 9 0 0.00 23 13 36.11 3 0 0.00 8 3 27.27 SS1 0 genome.wustl.edu 37 9 140083505 140083505 + R SNP T T G TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c6670f59-bd1e-4405-98f5-351e9e4ddf11 fc8335fb-7cb7-4553-8701-b16e1bfc3a14 9 140083505 140083505 T G SNP SS1 ENST00000459860 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SS1 HGNC ENSG00000176101 tier1 - - 31 0 0.00 35 11 23.91 2 0 0.00 8 4 33.33