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 ELTD1 0 genome.wustl.edu 37 1 79402057 79402057 + Missense_Mutation SNP T T C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 1 79402057 79402057 T C SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.800 p.H267R 0.976 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 tier1 - - 53 0 0.00 10 9 47.37 42 0 0.00 18 18 50.00 DH17 0 genome.wustl.edu 37 17 76567092 76567092 + Missense_Mutation SNP C C T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 17 76567092 76567092 C T SNP DH17 ENST00000389840 human ensembl 74_37 -1 known missense c.856 p.V286M 0.019 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DH17 HGNC ENSG00000187775 tier1 - - 53 0 0.00 30 15 33.33 37 0 0.00 76 10 11.63 PRX 0 genome.wustl.edu 37 19 40902642 40902642 + Silent SNP C C T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 19 40902642 40902642 C T SNP PRX ENST00000324001 human ensembl 74_37 -1 known silent c.1617 p.P539 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 tier1 - - 59 0 0.00 47 25 34.25 43 0 0.00 45 17 27.42 CNGA3 0 genome.wustl.edu 37 2 99012463 99012463 + Missense_Mutation SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 2 99012463 99012463 G A SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.830 p.R277H 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 tier1 - - 47 0 0.00 26 21 44.68 87 1 1.14 84 73 46.50 USP32P2 0 genome.wustl.edu 37 17 18414858 18414858 + R SNP A A T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 17 18414858 18414858 A T SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 0.899 - - - no_errors USP32P2 HGNC ENSG00000233327 tier1 - - 55 0 0.00 29 8 21.62 15 0 0.00 10 2 16.67 CASP4 0 genome.wustl.edu 37 11 104819368 104819368 + Missense_Mutation SNP C C T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 11 104819368 104819368 C T SNP CASP4 ENST00000444739 human ensembl 74_37 -1 known missense c.817 p.A273T 0.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP4 HGNC ENSG00000196954 tier1 - - 51 0 0.00 18 7 28.00 77 0 0.00 44 21 32.31 HNRNPR 0 genome.wustl.edu 37 1 23636715 23636715 + R SNP T T C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 1 23636715 23636715 T C SNP HNRNPR ENST00000476660 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPR HGNC ENSG00000125944 tier1 - - 18 0 0.00 5 4 44.44 68 0 0.00 34 35 50.72 FAM200B 0 genome.wustl.edu 37 4 15690018 15690018 + Missense_Mutation SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 4 15690018 15690018 G A SNP FAM200B ENST00000422728 human ensembl 74_37 +1 putative missense c.1418 p.R473K 0.704 superfamily_PAH superfamily_RNaseH-like_dom,superfamily_PAH - no_errors FAM200B HGNC ENSG00000237765 tier1 - - 24 0 0.00 8 5 38.46 96 0 0.00 39 40 50.63 PHLDB2 0 genome.wustl.edu 37 3 111681011 111681011 + Missense_Mutation SNP C C T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 3 111681011 111681011 C T SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.2929 p.R977C 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 50 0 0.00 12 10 45.45 70 0 0.00 29 20 40.82 DCLRE1B 0 genome.wustl.edu 37 1 114455666 114455666 + R SNP T T C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 1 114455666 114455666 T C SNP DCLRE1B ENST00000466480 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DCLRE1B HGNC ENSG00000118655 tier1 - - 49 0 0.00 47 12 20.34 86 0 0.00 84 30 26.09 ENTHD1 0 genome.wustl.edu 37 22 40139965 40139965 + Nonsense_Mutation SNP C C A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 22 40139965 40139965 C A SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known nonsense c.1543 p.E515* 0.002 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 tier1 - - 41 0 0.00 21 14 40.00 105 0 0.00 100 32 24.06 FAM91A1 0 genome.wustl.edu 37 8 124796721 124796721 + Nonsense_Mutation SNP G G T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 8 124796721 124796721 G T SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known nonsense c.715 p.E239* 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 tier1 - - 51 0 0.00 47 11 18.97 46 0 0.00 66 25 27.47 ASXL2 0 genome.wustl.edu 37 2 25966595 25966595 + Missense_Mutation SNP A A T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 2 25966595 25966595 A T SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known missense c.2611 p.S871T 0.004 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 tier1 - - 45 0 0.00 70 19 21.35 57 0 0.00 84 23 21.50 HEBP1 0 genome.wustl.edu 37 12 13128328 13128328 + Missense_Mutation SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 12 13128328 13128328 G A SNP HEBP1 ENST00000014930 human ensembl 74_37 -1 known missense c.484 p.R162W 0.935 pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom - no_errors HEBP1 HGNC ENSG00000013583 tier1 - - 42 0 0.00 53 14 20.90 23 0 0.00 64 16 20.00 CIITA 0 genome.wustl.edu 37 16 11016348 11016348 + Splice_Site SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 16 11016348 11016348 G A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known splice_site c.3317+1 e18+1 1.000 - - - no_errors CIITA HGNC ENSG00000179583 tier1 - - 63 0 0.00 74 28 27.45 41 0 0.00 44 30 40.54 SF3B3 0 genome.wustl.edu 37 16 70595541 70595541 + Silent SNP C C G TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 16 70595541 70595541 C G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known silent c.2142 p.A714 1.000 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 tier1 - - 45 0 0.00 10 11 52.38 61 0 0.00 29 36 54.55 INTS9 0 genome.wustl.edu 37 8 28651360 28651360 + Missense_Mutation SNP T T C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 8 28651360 28651360 T C SNP INTS9 ENST00000521022 human ensembl 74_37 -1 known missense c.1001 p.N334S 1.000 pfam_Beta_Casp pfam_Beta_Casp - no_errors INTS9 HGNC ENSG00000104299 tier1 - - 20 0 0.00 18 9 33.33 56 0 0.00 62 24 26.37 NUP205 0 genome.wustl.edu 37 7 135302372 135302372 + Missense_Mutation SNP C C T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 7 135302372 135302372 C T SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.3713 p.A1238V 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 tier1 - - 46 0 0.00 41 11 21.15 58 0 0.00 54 9 14.29 ASPRV1 0 genome.wustl.edu 37 2 70188027 70188027 + Missense_Mutation SNP T T C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 2 70188027 70188027 T C SNP ASPRV1 ENST00000320256 human ensembl 74_37 -1 known missense c.794 p.K265R 0.999 pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 tier1 - - 36 0 0.00 47 14 22.58 86 0 0.00 105 26 19.85 COX10 0 genome.wustl.edu 37 17 14110294 14110294 + Missense_Mutation SNP G G C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 17 14110294 14110294 G C SNP COX10 ENST00000261643 human ensembl 74_37 +1 known missense c.1096 p.V366L 0.063 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 tier1 - - 46 0 0.00 49 15 23.44 12 0 0.00 15 8 34.78 PDE4D 0 genome.wustl.edu 37 5 59284463 59284463 + Missense_Mutation SNP A A G TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 5 59284463 59284463 A G SNP PDE4D ENST00000502484 human ensembl 74_37 -1 known missense c.124 p.S42P 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 87 0 0.00 101 34 25.19 73 0 0.00 105 34 24.46 ANO4 0 genome.wustl.edu 37 12 101295493 101295493 + Missense_Mutation SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 12 101295493 101295493 G A SNP ANO4 ENST00000538618 human ensembl 74_37 +1 known missense c.428 p.R143H 0.993 NULL NULL - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 32 0 0.00 39 6 13.33 42 0 0.00 47 20 29.85 PIK3CA 0 genome.wustl.edu 37 3 178947119 178947119 + Missense_Mutation SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 3 178947119 178947119 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.2555 p.R852Q 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 rs199943173 - 75 0 0.00 23 17 42.50 69 0 0.00 31 40 56.34 NEB 0 genome.wustl.edu 37 2 152581369 152581369 + Splice_Site SNP A A C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 2 152581369 152581369 A C SNP NEB ENST00000397345 human ensembl 74_37 -1 known splice_site c.507+2 e5+2 1.000 - - - no_errors NEB HGNC ENSG00000183091 tier1 - - 101 0 0.00 83 63 42.86 59 0 0.00 47 54 53.47 SOX9 0 genome.wustl.edu 37 17 70119794 70119794 + Missense_Mutation SNP C C A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 17 70119794 70119794 C A SNP SOX9 ENST00000245479 human ensembl 74_37 +1 known missense c.796 p.P266T 1.000 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 tier1 - - 40 0 0.00 50 5 9.09 10 0 0.00 13 3 18.75 MICAL3 0 genome.wustl.edu 37 22 18310466 18310466 + Missense_Mutation SNP C C A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 22 18310466 18310466 C A SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.3137 p.R1046L 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 120 0 0.00 86 29 25.22 35 0 0.00 37 10 21.28 CTC1 0 genome.wustl.edu 37 17 8134669 8134669 + Missense_Mutation SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 17 8134669 8134669 G A SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known missense c.2594 p.S865F 0.011 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 tier1 - - 41 0 0.00 29 14 32.56 57 0 0.00 31 21 40.38 COA3 0 genome.wustl.edu 37 17 40950489 40950489 + Missense_Mutation SNP T T C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 17 40950489 40950489 T C SNP COA3 ENST00000328434 human ensembl 74_37 -1 known missense c.211 p.I71V 1.000 pfam_Coiled-coil_56 pfam_Coiled-coil_56 - no_errors COA3 HGNC ENSG00000183978 tier1 - - 52 0 0.00 36 13 26.53 61 0 0.00 89 20 18.35 DCHS2 0 genome.wustl.edu 37 4 155219572 155219572 + Missense_Mutation SNP T T C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 4 155219572 155219572 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.4529 p.N1510S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 75 0 0.00 62 31 33.33 54 0 0.00 76 35 31.53 OR52L1 0 genome.wustl.edu 37 11 6007874 6007874 + Missense_Mutation SNP G G T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 11 6007874 6007874 G T SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known missense c.287 p.A96E 0.821 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 OR52L1 HGNC ENSG00000183313 tier1 - - 86 0 0.00 73 32 30.48 22 0 0.00 20 8 28.57 TUBA3C 0 genome.wustl.edu 37 13 19753654 19753654 + Missense_Mutation SNP T T C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 13 19753654 19753654 T C SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.53 p.N18S 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 - - 93 0 0.00 34 31 47.69 28 0 0.00 25 12 32.43 FLG 0 genome.wustl.edu 37 1 152281987 152281987 + Missense_Mutation SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 1 152281987 152281987 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.5375 p.S1792F 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 188 1 0.53 142 57 28.36 11 0 0.00 11 3 21.43 KMT2E 0 genome.wustl.edu 37 7 104747888 104747889 + Frame_Shift_Ins INS - - A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 7 104747888 104747889 - A INS KMT2E ENST00000257745 human ensembl 74_37 +1 known frame_shift_ins c.2984_2985 p.T997fs 1.000:1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 34 0 0.00 21 9 30.00 88 0 0.00 108 24 18.18 KIT 0 genome.wustl.edu 37 4 55593603 55593616 + Frame_Shift_Del DEL TGGAAGGTTGTTGA TGGAAGGTTGTTGA - TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 TGGAAGGTTGTTGA TGGAAGGTTGTTGA TGGAAGGTTGTTGA - TGGAAGGTTGTTGA TGGAAGGTTGTTGA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 4 55593603 55593616 TGGAAGGTTGTTGA - DEL KIT ENST00000288135 human ensembl 74_37 +1 known frame_shift_del c.1669_1682 p.W557fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.959:0.999:0.998:0.001:1.000:1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 130 0 0.00 62 52 45.61 130 0 0.00 62 52 45.61 BRCA2 0 genome.wustl.edu 37 13 32903601 32903601 + Frame_Shift_Del DEL A A - TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 13 32903601 32903601 A - DEL BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_del c.653 p.T219fs 0.012 pirsf_BRCA2 pfam_D_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_D_recomb/repair_BRCA2_hlx,superfamily_-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 45 0 0.00 17 10 37.04 80 0 0.00 28 21 42.86 KIT 0 genome.wustl.edu 37 4 55593601 55593601 + Frame_Shift_Del DEL A A - TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 4 55593601 55593601 A - DEL KIT ENST00000288135 human ensembl 74_37 +1 known frame_shift_del c.1667 p.Q556fs 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 30 0 0.00 24 13 35.14 127 0 0.00 61 52 46.02 LINC00408 0 genome.wustl.edu 37 13 19480667 19480667 + R SNP C C T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 13 19480667 19480667 C T SNP LINC00408 ENST00000447784 human ensembl 74_37 +1 known rna NULL NULL 0.065 - - - no_errors LINC00408 HGNC ENSG00000226250 tier1 - - 14 0 0.00 2 11 84.62 28 0 0.00 6 4 40.00 PSG8 0 genome.wustl.edu 37 19 43262153 43262153 + Splice_Site SNP C C T TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 19 43262153 43262153 C T SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known splice_site c.709+1 e3+1 0.059 - - - no_errors PSG8 HGNC ENSG00000124467 tier1 - - 171 0 0.00 127 56 30.60 10 0 0.00 7 3 30.00 SUMO3 0 genome.wustl.edu 37 21 46233792 46233792 + Missense_Mutation SNP C C G TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 21 46233792 46233792 C G SNP SUMO3 ENST00000411651 human ensembl 74_37 -1 known missense c.249 p.Q83H 0.001 NULL pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup - no_errors SUMO3 HGNC ENSG00000184900 tier1 - - 27 0 0.00 29 17 36.96 10 0 0.00 8 2 20.00 WNT9A 0 genome.wustl.edu 37 1 228111953 228111954 + Frame_Shift_Ins INS - - C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 1 228111953 228111954 - C INS WNT9A ENST00000272164 human ensembl 74_37 -1 known frame_shift_ins c.501_500 p.C168fs 1.000:1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 tier1 69 0 0.00 64 29 31.18 66 0 0.00 51 27 34.62 C8orf76 0 genome.wustl.edu 37 8 124253560 124253560 + Silent SNP G G C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 8 124253560 124253560 G C SNP C8orf76 ENST00000276704 human ensembl 74_37 -1 known silent c.27 p.G9 0.603 NULL NULL - no_errors C8orf76 HGNC ENSG00000189376 tier1 - - 16 0 0.00 9 6 40.00 13 0 0.00 9 1 10.00 MT-CO2 0 genome.wustl.edu 37 MT 8199 8199 + Missense_Mutation SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 MT 8199 8199 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.614 p.S205N 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 - - 36 0 0.00 5 4 44.44 7 0 0.00 0 0 0.00 ACADVL 0 genome.wustl.edu 37 17 7123240 7123241 + R INS - - GGGCGTGCAGGACGC TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 17 7123240 7123241 - GGGCGTGCAGGACGC INS ACADVL ENST00000577857 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ACADVL HGNC ENSG00000072778 tier1 2 0 0.00 7 0 0.00 2 0 0.00 7 0 0.00 CCND1 0 genome.wustl.edu 37 11 69466030 69466030 + Missense_Mutation SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 11 69466030 69466030 G A SNP CCND1 ENST00000227507 human ensembl 74_37 +1 known missense c.868 p.V290M 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND1 HGNC ENSG00000110092 tier1 - - 16 0 0.00 18 11 37.93 0 0 0.00 0 1 100.00 ENSG00000215958 0 genome.wustl.edu 37 15 70077781 70077782 + R INS - - TGTGTA TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 15 70077781 70077782 - TGTGTA INS ENSG00000215958 ENST00000401139 human ensembl 74_37 -1 novel rna NULL NULL 0.191:0.184 - - - no_errors AC021818.1 Clone_based_ensembl_gene ENSG00000215958 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000237357 0 genome.wustl.edu 37 9 44403059 44403059 + Splice_Site SNP G G C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 9 44403059 44403059 G C SNP ENSG00000237357 ENST00000425309 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.388 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000237357 tier1 - - 59 0 0.00 27 21 43.75 0 0 0.00 0 0 0.00 ENSG00000237357 0 genome.wustl.edu 37 9 44403067 44403067 + R SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 9 44403067 44403067 G A SNP ENSG00000237357 ENST00000425309 human ensembl 74_37 +1 known rna NULL NULL 0.349 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000237357 tier1 - - 62 0 0.00 26 20 42.55 0 0 0.00 0 0 0.00 FOXD4L1 0 genome.wustl.edu 37 2 114257443 114257443 + Missense_Mutation SNP A A C TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 2 114257443 114257443 A C SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known missense c.610 p.K204Q 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 tier1 - - 48 0 0.00 64 8 11.11 1 0 0.00 0 0 0.00 MT-RNR2 0 genome.wustl.edu 37 MT 3063 3063 + R SNP G G A TCGA-MO-A47R-01A-11D-A24N-09 TCGA-MO-A47R-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a5d3b6b-be5a-4e55-9255-32a069b8af3d 40925959-5b66-45a5-a8a2-61ee7e67b084 MT 3063 3063 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 79 0 0.00 17 2 10.53 2 0 0.00 2 0 0.00