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 SAR1A 0 genome.wustl.edu 37 10 71921382 71921382 + Silent SNP T T C TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 10 71921382 71921382 T C SNP SAR1A ENST00000373238 human ensembl 74_37 -1 known silent c.171 p.L57 0.893 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors SAR1A HGNC ENSG00000079332 tier1 - - 55 0 0.00 26 9 25.71 79 0 0.00 49 27 35.06 JAK1 0 genome.wustl.edu 37 1 65305469 65305469 + Missense_Mutation SNP C C A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 1 65305469 65305469 C A SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.2659 p.G887W 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 tier1 - - 33 0 0.00 7 16 69.57 111 1 0.89 14 57 80.28 KRT77 0 genome.wustl.edu 37 12 53086631 53086631 + Missense_Mutation SNP C C T TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 12 53086631 53086631 C T SNP KRT77 ENST00000341809 human ensembl 74_37 -1 known missense c.1114 p.G372R 0.999 pfam_IF,superfamily_Prefoldin,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT77 HGNC ENSG00000189182 tier1 - - 34 0 0.00 22 15 40.54 57 0 0.00 27 24 47.06 EGF 0 genome.wustl.edu 37 4 110897337 110897337 + Missense_Mutation SNP G G C TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 4 110897337 110897337 G C SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.1999 p.E667Q 1.000 pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 tier1 - - 54 0 0.00 48 14 22.58 143 0 0.00 143 60 29.56 TET2 0 genome.wustl.edu 37 4 106196793 106196793 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 4 106196793 106196793 G A SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.5126 p.C1709Y 1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 35 0 0.00 25 18 41.86 153 0 0.00 140 29 17.16 PDGFC 0 genome.wustl.edu 37 4 157892061 157892061 + R SNP T T A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 4 157892061 157892061 T A SNP PDGFC ENST00000513664 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PDGFC HGNC ENSG00000145431 tier1 - - 28 0 0.00 13 7 35.00 47 0 0.00 13 8 38.10 TET2 0 genome.wustl.edu 37 4 106196802 106196802 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 4 106196802 106196802 G A SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.5135 p.R1712K 0.993 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 35 0 0.00 24 16 40.00 147 1 0.67 139 31 18.13 PRRC2A 0 genome.wustl.edu 37 6 31604303 31604303 + Missense_Mutation SNP C C T TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 6 31604303 31604303 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.5852 p.P1951L 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 73 0 0.00 28 16 36.36 87 0 0.00 55 24 30.38 ANPEP 0 genome.wustl.edu 37 15 90349396 90349396 + Missense_Mutation SNP C C T TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 15 90349396 90349396 C T SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known missense c.419 p.R140H 0.042 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 tier1 rs145360414 - 38 0 0.00 25 12 32.43 25 0 0.00 10 11 52.38 VSIG10L 0 genome.wustl.edu 37 19 51845231 51845231 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 19 51845231 51845231 G A SNP VSIG10L ENST00000335624 human ensembl 74_37 -1 novel missense c.71 p.A24V 0.015 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG10L HGNC ENSG00000186806 tier1 - - 21 0 0.00 13 12 48.00 88 0 0.00 42 29 40.85 PLBD1 0 genome.wustl.edu 37 12 14656854 14656854 + Missense_Mutation SNP G G T TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 12 14656854 14656854 G T SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known missense c.1514 p.S505Y 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 tier1 - - 35 0 0.00 40 10 20.00 118 0 0.00 88 19 17.76 EGF 0 genome.wustl.edu 37 4 110897208 110897208 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 4 110897208 110897208 G A SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.1870 p.E624K 1.000 pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 tier1 - - 74 0 0.00 59 28 32.18 141 1 0.70 162 57 25.91 FSIP2 0 genome.wustl.edu 37 2 186671383 186671383 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 2 186671383 186671383 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.17617 p.A5873T 0.143 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 74 0 0.00 50 22 30.56 134 0 0.00 90 57 38.78 CRX 0 genome.wustl.edu 37 19 48339521 48339521 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 19 48339521 48339521 G A SNP CRX ENST00000221996 human ensembl 74_37 +1 known missense c.122 p.R41Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors CRX HGNC ENSG00000105392 tier1 rs61748436 - 38 0 0.00 26 6 18.75 46 0 0.00 21 12 36.36 OCSTAMP 0 genome.wustl.edu 37 20 45170491 45170491 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 20 45170491 45170491 G A SNP OCSTAMP ENST00000279028 human ensembl 74_37 -1 known missense c.1123 p.H375Y 0.002 pfam_DC_STAMP-like pfam_DC_STAMP-like - no_errors OCSTAMP HGNC ENSG00000149635 tier1 - - 23 0 0.00 20 4 16.67 43 0 0.00 38 7 15.56 FAM221A 0 genome.wustl.edu 37 7 23737906 23737906 + Missense_Mutation SNP A A C TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 7 23737906 23737906 A C SNP FAM221A ENST00000344962 human ensembl 74_37 +1 known missense c.733 p.T245P 0.092 NULL NULL - no_errors FAM221A HGNC ENSG00000188732 tier1 - - 40 0 0.00 35 17 32.69 120 0 0.00 65 37 36.27 TET2 0 genome.wustl.edu 37 4 106197126 106197126 + Missense_Mutation SNP G G C TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 4 106197126 106197126 G C SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.5459 p.S1820T 0.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 13 0 0.00 15 9 36.00 114 0 0.00 81 42 33.87 MAOA 0 genome.wustl.edu 37 X 43602982 43602982 + R SNP C C T TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 X 43602982 43602982 C T SNP MAOA ENST00000490604 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MAOA HGNC ENSG00000189221 tier1 - - 14 0 0.00 6 5 45.45 82 0 0.00 62 35 36.08 EGF 0 genome.wustl.edu 37 4 110897311 110897311 + Nonsense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 4 110897311 110897311 G A SNP EGF ENST00000265171 human ensembl 74_37 +1 known nonsense c.1973 p.W658* 1.000 pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 tier1 - - 63 0 0.00 57 16 21.92 146 0 0.00 150 62 29.25 ZBED4 0 genome.wustl.edu 37 22 50279664 50279664 + Missense_Mutation SNP A A G TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 22 50279664 50279664 A G SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known missense c.2354 p.Q785R 0.998 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 tier1 - - 28 0 0.00 24 12 33.33 35 0 0.00 15 8 34.78 TDRD12 0 genome.wustl.edu 37 19 33281462 33281462 + Missense_Mutation SNP C C T TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 19 33281462 33281462 C T SNP TDRD12 ENST00000444215 human ensembl 74_37 +1 known missense c.1147 p.P383S 1.000 NULL pfam_Tudor,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors TDRD12 HGNC ENSG00000173809 tier1 - - 16 0 0.00 13 6 31.58 113 0 0.00 69 34 33.01 MET 0 genome.wustl.edu 37 7 116340270 116340270 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 7 116340270 116340270 G A SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.1132 p.V378I 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 31 0 0.00 28 14 33.33 101 0 0.00 95 12 11.11 EGF 0 genome.wustl.edu 37 4 110897298 110897298 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 4 110897298 110897298 G A SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.1960 p.D654N 0.992 pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 tier1 - - 65 0 0.00 55 18 24.66 146 0 0.00 154 62 28.70 MDGA2 0 genome.wustl.edu 37 14 47324254 47324254 + Silent SNP A A C TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 14 47324254 47324254 A C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known silent c.2856 p.V952 0.999 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 40 0 0.00 37 22 36.67 108 0 0.00 55 54 49.54 DCAF8L2 0 genome.wustl.edu 37 X 27766328 27766328 + Missense_Mutation SNP C C T TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 X 27766328 27766328 C T SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known missense c.1316 p.A439V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 tier1 - - 44 0 0.00 50 10 16.67 66 0 0.00 45 23 33.82 FAT2 0 genome.wustl.edu 37 5 150920164 150920164 + Silent SNP G G C TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 5 150920164 150920164 G C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.9003 p.V3001 0.860 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 43 0 0.00 30 7 18.92 82 1 1.18 69 14 16.87 RHAG 0 genome.wustl.edu 37 6 49604429 49604429 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 6 49604429 49604429 G A SNP RHAG ENST00000371175 human ensembl 74_37 -1 known missense c.97 p.L33F 0.000 pfam_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 tier1 - - 40 0 0.00 21 17 44.74 121 0 0.00 35 48 57.83 SMCR5 0 genome.wustl.edu 37 17 17682037 17682037 + R SNP T T C TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 17 17682037 17682037 T C SNP SMCR5 ENST00000543475 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SMCR5 HGNC ENSG00000226746 tier1 - - 64 0 0.00 24 7 22.58 97 0 0.00 53 25 32.05 OR1L6 0 genome.wustl.edu 37 9 125512914 125512914 + Missense_Mutation SNP C C T TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 9 125512914 125512914 C T SNP OR1L6 ENST00000373684 human ensembl 74_37 +1 known missense c.896 p.P299L 0.589 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L6 HGNC ENSG00000171459 tier1 - - 59 0 0.00 63 22 25.88 80 0 0.00 85 27 24.11 EFCAB4B 0 genome.wustl.edu 37 12 3768815 3768815 + Missense_Mutation SNP A A C TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 12 3768815 3768815 A C SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known missense c.677 p.I226S 0.992 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 - - 39 0 0.00 18 24 57.14 83 0 0.00 28 24 46.15 AMER1 0 genome.wustl.edu 37 X 63410105 63410105 + Missense_Mutation SNP G G A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 X 63410105 63410105 G A SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.3062 p.A1021V 0.852 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 tier1 - - 75 0 0.00 8 30 78.95 132 0 0.00 8 41 83.67 TMEM14B 0 genome.wustl.edu 37 6 10756863 10756864 + R INS - - A TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 6 10756863 10756864 - A INS TMEM14B ENST00000486421 human ensembl 74_37 +1 known rna NULL NULL 0.029:0.005 - - - no_errors TMEM14B HGNC ENSG00000137210 tier1 24 0 0.00 13 4 23.53 48 0 0.00 46 5 9.80 KRT10 0 genome.wustl.edu 37 17 38975103 38975104 + In_Frame_Ins INS - - GCT TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 17 38975103 38975104 - GCT INS KRT10 ENST00000269576 human ensembl 74_37 -1 known in_frame_ins c.1684_1683 p.563in_frame_insS 0.124:0.323 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 tier1 29 0 0.00 22 4 15.38 8 0 0.00 9 0 0.00 C22orf26 0 genome.wustl.edu 37 22 46449708 46449708 + Missense_Mutation SNP G G C TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 22 46449708 46449708 G C SNP C22orf26 ENST00000333761 human ensembl 74_37 -1 known missense c.266 p.A89G 1.000 NULL NULL - no_errors C22orf26 HGNC ENSG00000182257 tier1 - - 8 0 0.00 4 8 66.67 0 0 0.00 0 1 100.00 HCN2 0 genome.wustl.edu 37 19 616057 616057 + Silent SNP G G C TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 19 616057 616057 G C SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known silent c.2253 p.A751 0.061 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 tier1 rs201222040 - 8 0 0.00 7 7 50.00 0 0 0.00 0 0 0.00 SLC39A3 0 genome.wustl.edu 37 19 2737421 2737421 + R DEL T T - TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a853679a-0be7-4f37-900c-f8f028f590aa 224f10b3-a507-435c-bc6c-3fdd6dfb5a46 19 2737421 2737421 T - DEL SLC39A3 ENST00000590875 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors SLC39A3 HGNC ENSG00000141873 tier1 16 0 0.00 15 5 25.00 13 0 0.00 30 2 6.25