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 ENSG00000205918 0 genome.wustl.edu 37 16 2692244 2692244 + R SNP C C G TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 16 2692244 2692244 C G SNP ENSG00000205918 ENST00000382326 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PDPK2 Clone_based_vega_gene ENSG00000205918 tier1 - - 52 0 0.00 31 21 40.38 89 0 0.00 53 45 45.92 HMCN2 0 genome.wustl.edu 37 9 133263837 133263837 + R SNP C C A TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 9 133263837 133263837 C A SNP HMCN2 ENST00000487727 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMCN2 HGNC ENSG00000148357 tier1 - - 23 0 0.00 28 14 33.33 65 0 0.00 31 26 45.61 PHLPP2 0 genome.wustl.edu 37 16 71748565 71748565 + Missense_Mutation SNP G G A TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 16 71748565 71748565 G A SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.134 p.T45I 0.688 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 tier1 - - 28 0 0.00 1 22 95.65 128 0 0.00 11 47 81.03 KIAA1804 0 genome.wustl.edu 37 1 233518139 233518139 + Silent SNP C C T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 1 233518139 233518139 C T SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known silent c.2793 p.V931 0.033 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 tier1 - - 23 0 0.00 19 14 42.42 42 0 0.00 27 25 48.08 HMCN2 0 genome.wustl.edu 37 9 133263827 133263827 + R SNP G G A TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 9 133263827 133263827 G A SNP HMCN2 ENST00000487727 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors HMCN2 HGNC ENSG00000148357 tier1 - - 24 0 0.00 29 12 29.27 66 0 0.00 34 25 42.37 ASPH 0 genome.wustl.edu 37 8 62559366 62559366 + Missense_Mutation SNP T T A TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 8 62559366 62559366 T A SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.562 p.M188L 0.000 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 tier1 - - 50 0 0.00 45 57 55.88 105 0 0.00 50 54 51.92 LAYN 0 genome.wustl.edu 37 11 111420356 111420356 + Missense_Mutation SNP G G T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 11 111420356 111420356 G T SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.421 p.D141Y 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 tier1 - - 18 0 0.00 16 6 27.27 49 0 0.00 62 14 18.42 TMCO6 0 genome.wustl.edu 37 5 140021484 140021484 + Missense_Mutation SNP G G T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 5 140021484 140021484 G T SNP TMCO6 ENST00000252100 human ensembl 74_37 +1 known missense c.344 p.G115V 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 tier1 - - 18 0 0.00 9 12 57.14 12 0 0.00 19 14 42.42 MROH2B 0 genome.wustl.edu 37 5 41042208 41042208 + Missense_Mutation SNP C C T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 5 41042208 41042208 C T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.1939 p.G647R 0.869 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 49 0 0.00 30 28 48.28 109 0 0.00 56 49 46.23 ZNF644 0 genome.wustl.edu 37 1 91406009 91406009 + Missense_Mutation SNP G G C TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 1 91406009 91406009 G C SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.902 p.T301S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 tier1 - - 25 0 0.00 22 29 56.86 138 1 0.72 44 36 45.00 TTLL2 0 genome.wustl.edu 37 6 167754600 167754600 + Missense_Mutation SNP G G C TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 6 167754600 167754600 G C SNP TTLL2 ENST00000239587 human ensembl 74_37 +1 known missense c.1212 p.K404N 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 tier1 - - 29 0 0.00 23 17 42.50 97 0 0.00 75 44 36.97 TGM4 0 genome.wustl.edu 37 3 44943114 44943114 + Silent SNP C C A TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 3 44943114 44943114 C A SNP TGM4 ENST00000296125 human ensembl 74_37 +1 known silent c.756 p.I252 1.000 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 tier1 - - 17 0 0.00 12 14 53.85 93 0 0.00 36 37 50.68 PRMT2 0 genome.wustl.edu 37 21 48083355 48083355 + Nonsense_Mutation SNP A A T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 21 48083355 48083355 A T SNP PRMT2 ENST00000458387 human ensembl 74_37 +1 known nonsense c.715 p.R239* 0.998 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tR_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 tier1 - - 27 0 0.00 11 12 52.17 48 0 0.00 40 12 23.08 FREM2 0 genome.wustl.edu 37 13 39263770 39263770 + Missense_Mutation SNP G G C TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 13 39263770 39263770 G C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.2289 p.L763F 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 16 0 0.00 22 5 18.52 100 0 0.00 98 15 13.27 ZNF462 0 genome.wustl.edu 37 9 109690005 109690005 + Missense_Mutation SNP C C T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 9 109690005 109690005 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.3812 p.S1271L 0.945 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 tier1 - - 19 0 0.00 15 16 51.61 60 0 0.00 55 42 43.30 OTOGL 0 genome.wustl.edu 37 12 80663926 80663926 + Missense_Mutation SNP C C T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 12 80663926 80663926 C T SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.2483 p.P828L 1.000 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 tier1 - - 44 0 0.00 34 29 46.03 105 0 0.00 55 36 39.56 DICER1 0 genome.wustl.edu 37 14 95584038 95584038 + Missense_Mutation SNP T T C TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 14 95584038 95584038 T C SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.1430 p.N477S 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsR-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsR-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 tier1 - - 30 0 0.00 28 22 44.00 93 0 0.00 44 29 39.73 ETV3L 0 genome.wustl.edu 37 1 157062675 157062675 + Silent SNP T T C TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 1 157062675 157062675 T C SNP ETV3L ENST00000454449 human ensembl 74_37 -1 known silent c.852 p.P284 0.003 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3L HGNC ENSG00000253831 tier1 - - 25 0 0.00 17 19 52.78 64 0 0.00 25 24 48.98 SLX4 0 genome.wustl.edu 37 16 3641103 3641103 + Missense_Mutation SNP C C T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 16 3641103 3641103 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.2536 p.V846M 0.462 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 tier1 - - 65 0 0.00 62 44 41.51 97 0 0.00 59 26 30.23 GOLGA6C 0 genome.wustl.edu 37 15 75562507 75562507 + Silent SNP C C T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 15 75562507 75562507 C T SNP GOLGA6C ENST00000300576 human ensembl 74_37 +1 known silent c.2049 p.I683 1.000 NULL NULL - no_errors GOLGA6C HGNC ENSG00000167195 tier1 - - 141 0 0.00 117 67 36.41 27 0 0.00 45 14 23.73 STAT2 0 genome.wustl.edu 37 12 56749495 56749495 + Silent SNP T T C TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 12 56749495 56749495 T C SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known silent c.378 p.Q126 0.144 superfamily_STAT_TF_prot_interaction pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 tier1 rs112826194 - 34 0 0.00 1 16 94.12 146 0 0.00 13 70 84.34 NRCAM 0 genome.wustl.edu 37 7 107788355 107788355 + R SNP A A T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 7 107788355 107788355 A T SNP NRCAM ENST00000522550 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NRCAM HGNC ENSG00000091129 tier1 - - 58 0 0.00 31 24 43.64 140 0 0.00 73 60 45.11 SREBF2 0 genome.wustl.edu 37 22 42276780 42276780 + Missense_Mutation SNP C C A TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 22 42276780 42276780 C A SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known missense c.1822 p.L608M 0.999 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 tier1 - - 61 0 0.00 49 19 27.94 24 0 0.00 19 13 40.62 ENSG00000264576 0 genome.wustl.edu 37 8 72744891 72744891 + R SNP A A G TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 8 72744891 72744891 A G SNP ENSG00000264576 ENST00000390739 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors AC104012.1 Clone_based_ensembl_gene ENSG00000264576 tier1 - - 31 0 0.00 21 22 51.16 56 0 0.00 15 22 59.46 CHRDL2 0 genome.wustl.edu 37 11 74414359 74414359 + Missense_Mutation SNP T T C TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 11 74414359 74414359 T C SNP CHRDL2 ENST00000263671 human ensembl 74_37 -1 known missense c.937 p.I313V 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL2 HGNC ENSG00000054938 tier1 - - 43 0 0.00 32 28 46.67 57 0 0.00 26 23 46.94 GSAP 0 genome.wustl.edu 37 7 76941178 76941178 + Missense_Mutation SNP T T A TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 7 76941178 76941178 T A SNP GSAP ENST00000257626 human ensembl 74_37 -1 known missense c.2453 p.D818V 0.048 NULL NULL - no_errors GSAP HGNC ENSG00000186088 tier1 - - 10 0 0.00 13 4 23.53 140 0 0.00 54 78 59.09 EPB41L4A 0 genome.wustl.edu 37 5 111576464 111576464 + Missense_Mutation SNP G G T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 5 111576464 111576464 G T SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.839 p.A280D 0.996 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 tier1 - - 20 0 0.00 33 10 23.26 84 0 0.00 38 29 43.28 PTCHD1 0 genome.wustl.edu 37 X 23397790 23397790 + Missense_Mutation SNP A A G TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 X 23397790 23397790 A G SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.434 p.D145G 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 tier1 - - 44 0 0.00 90 26 22.41 74 0 0.00 113 27 19.29 SARDH 0 genome.wustl.edu 37 9 136594926 136594926 + Silent SNP G G A TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 9 136594926 136594926 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.876 p.H292 0.999 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 tier1 - - 12 0 0.00 11 5 31.25 41 0 0.00 20 17 45.95 ENSG00000226145 0 genome.wustl.edu 37 17 16722165 16722165 + R SNP G G T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 17 16722165 16722165 G T SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.211 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 tier1 - - 128 0 0.00 180 151 45.48 153 0 0.00 237 125 34.44 EIF1 0 genome.wustl.edu 37 17 39845149 39845162 + R DEL GAGCCGCCGCCGAG GAGCCGCCGCCGAG - TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 GAGCCGCCGCCGAG GAGCCGCCGCCGAG GAGCCGCCGCCGAG - GAGCCGCCGCCGAG GAGCCGCCGCCGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 17 39845149 39845162 GAGCCGCCGCCGAG - DEL EIF1 ENST00000310837 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - no_errors EIF1 HGNC ENSG00000173812 tier1 27 0 0.00 14 4 22.22 27 0 0.00 14 4 22.22 MEFV 0 genome.wustl.edu 37 16 3299599 3299599 + Silent SNP C C T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 16 3299599 3299599 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known silent c.1092 p.P364 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 tier1 rs11466022 GMAF=0.0005 38 0 0.00 27 31 53.45 11 0 0.00 7 5 41.67 WRAP53 0 genome.wustl.edu 37 17 7592932 7592932 + Missense_Mutation SNP G G C TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 17 7592932 7592932 G C SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.555 p.L185F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 tier1 - - 33 0 0.00 2 41 95.35 85 0 0.00 3 84 96.55 VPS16 0 genome.wustl.edu 37 20 2841110 2841110 + Missense_Mutation SNP C C T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 20 2841110 2841110 C T SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known missense c.385 p.R129W 1.000 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 tier1 - - 41 0 0.00 36 4 10.00 62 0 0.00 95 8 7.77 ADAMTS14 0 genome.wustl.edu 37 10 72517795 72517795 + Silent SNP C C T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 10 72517795 72517795 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known silent c.3024 p.C1008 0.392 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 tier1 - - 18 0 0.00 9 3 25.00 7 0 0.00 9 0 0.00 C22orf34 0 genome.wustl.edu 37 22 50017970 50017970 + Missense_Mutation SNP G G T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 22 50017970 50017970 G T SNP C22orf34 ENST00000444628 human ensembl 74_37 -1 known missense c.491 p.P164H 0.994 NULL NULL - no_errors C22orf34 HGNC ENSG00000188511 tier1 - - 56 0 0.00 40 26 38.81 6 0 0.00 3 1 25.00 CYP4F2 0 genome.wustl.edu 37 19 16008315 16008315 + Missense_Mutation SNP G G A TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 19 16008315 16008315 G A SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.107 p.A36V 0.791 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 tier1 - - 55 0 0.00 66 16 19.51 2 0 0.00 8 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102294619 102294619 + R SNP C C T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 15 102294619 102294619 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 26 0 0.00 36 6 14.29 1 0 0.00 0 0 0.00 ENSG00000216054 0 genome.wustl.edu 37 2 158298116 158298121 + R DEL ACACAC ACACAC - TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 ACACAC ACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 2 158298116 158298121 ACACAC - DEL ENSG00000216054 ENST00000401235 human ensembl 74_37 +1 novel rna NULL NULL 0.006:0.012:0.018:0.024:0.029:0.033 - - - no_errors AC019201.1 Clone_based_ensembl_gene ENSG00000216054 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LOC441666 0 genome.wustl.edu 37 10 42832502 42832503 + R INS - - TATCA TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 10 42832502 42832503 - TATCA INS LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.995:0.996 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 4 0 0.00 3 0 0.00 4 0 0.00 3 0 0.00 LOC644794 0 genome.wustl.edu 37 7 66369212 66369213 + R INS - - GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 7 66369212 66369213 - GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC INS LOC644794 ENST00000610177 human ensembl 74_37 +1 known rna NULL NULL 0.293:0.454 - - - no_errors RP11-458F8.4 Clone_based_vega_gene ENSG00000273142 tier1 1 0 0.00 2 0 0.00 1 0 0.00 2 0 0.00 LRFN3 0 genome.wustl.edu 37 19 36431082 36431087 + In_Frame_Del DEL ACTGCA ACTGCA - TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 ACTGCA ACTGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 19 36431082 36431087 ACTGCA - DEL LRFN3 ENST00000246529 human ensembl 74_37 +1 known in_frame_del c.755_760 p.NC254in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 tier1 2 0 0.00 7 0 0.00 2 0 0.00 7 0 0.00 MT-RNR1 0 genome.wustl.edu 37 MT 1056 1056 + R SNP A A G TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 MT 1056 1056 A G SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 19 0 0.00 3 5 62.50 0 0 0.00 0 0 0.00 PKD1P6 0 genome.wustl.edu 37 16 15221350 15221350 + R SNP G G T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 16 15221350 15221350 G T SNP PKD1P6 ENST00000424133 human ensembl 74_37 -1 known rna NULL NULL 0.912 - - - no_errors PKD1P6 HGNC ENSG00000250251 tier1 - - 77 0 0.00 69 59 46.09 0 0 0.00 0 0 0.00 TCTA 0 genome.wustl.edu 37 3 49450616 49450616 + R SNP G G T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 3 49450616 49450616 G T SNP TCTA ENST00000482193 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TCTA HGNC ENSG00000145022 tier1 - - 30 0 0.00 33 4 10.81 73 0 0.00 84 2 2.33 ONECUT1 0 genome.wustl.edu 37 15 53081692 53081692 + Missense_Mutation SNP A A C TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 15 53081692 53081692 A C SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known missense c.390 p.H130Q 0.913 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 tier1 - - 45 0 0.00 44 7 13.73 21 0 0.00 24 2 7.69 KDELR3 0 genome.wustl.edu 37 22 38870538 38870538 + Silent SNP G G T TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 22 38870538 38870538 G T SNP KDELR3 ENST00000409006 human ensembl 74_37 +1 known silent c.102 p.G34 1.000 pfam_ER_ret_rcpt,prints_ER_ret_rcpt pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2_TM_dom,prints_ER_ret_rcpt - no_errors KDELR3 HGNC ENSG00000100196 tier1 - - 36 0 0.00 43 4 8.51 71 0 0.00 79 2 2.47 FAM193B 0 genome.wustl.edu 37 5 176952043 176952043 + Frame_Shift_Del DEL T T - TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 5 176952043 176952043 T - DEL FAM193B ENST00000443375 human ensembl 74_37 -1 known frame_shift_del c.1340 p.N447fs 1.000 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 tier1 15 0 0.00 15 2 11.76 44 0 0.00 42 2 4.55 ONECUT1 0 genome.wustl.edu 37 15 53081679 53081693 + In_Frame_Del DEL GGTGGTGGTGGTGAT GGTGGTGGTGGTGAT - TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 GGTGGTGGTGGTGAT GGTGGTGGTGGTGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 15 53081679 53081693 GGTGGTGGTGGTGAT - DEL ONECUT1 ENST00000305901 human ensembl 74_37 -1 known in_frame_del c.403_389 p.HHHHH130in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:0.913:1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 tier1 18 0 0.00 27 2 6.90 18 0 0.00 27 2 6.90 GI2 0 genome.wustl.edu 37 3 50296406 50296406 + R DEL C C - TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165d4951-6e01-49de-b97d-8037f6767a3b c782c030-10d3-460e-bcbd-154a26efae01 3 50296406 50296406 C - DEL GI2 ENST00000491100 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GI2 HGNC ENSG00000114353 tier1 11 0 0.00 23 3 11.54 54 0 0.00 56 3 5.08