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 CLCN7 0 genome.wustl.edu 37 16 1497076 1497076 + Missense_Mutation SNP G G C TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 16 1497076 1497076 G C SNP CLCN7 ENST00000262318 human ensembl 74_37 -1 putative missense c.2191 p.P731A 0.098 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 tier1 - - 30 0 0.00 16 4 20.00 21 0 0.00 10 2 16.67 SNX27 0 genome.wustl.edu 37 1 151611519 151611519 + Missense_Mutation SNP A A G TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 1 151611519 151611519 A G SNP SNX27 ENST00000368843 human ensembl 74_37 +1 known missense c.467 p.D156G 1.000 superfamily_Phox,smart_Phox pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 tier1 - - 65 0 0.00 43 11 20.37 118 0 0.00 78 22 22.00 DPPA2 0 genome.wustl.edu 37 3 109028041 109028041 + Missense_Mutation SNP T T G TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 3 109028041 109028041 T G SNP DPPA2 ENST00000478945 human ensembl 74_37 -1 known missense c.318 p.Q106H 0.000 pfscan_SAP_dom pfscan_SAP_dom - no_errors DPPA2 HGNC ENSG00000163530 tier1 - - 75 0 0.00 57 19 25.00 156 0 0.00 67 35 33.98 SYNGR4 0 genome.wustl.edu 37 19 48876925 48876925 + Missense_Mutation SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 19 48876925 48876925 C T SNP SYNGR4 ENST00000344846 human ensembl 74_37 +1 known missense c.245 p.A82V 0.877 pfam_Marvel,pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR4 HGNC ENSG00000105467 tier1 - - 20 0 0.00 13 9 40.91 43 0 0.00 15 16 51.61 RUNX3 0 genome.wustl.edu 37 1 25229150 25229150 + Silent SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 1 25229150 25229150 C T SNP RUNX3 ENST00000338888 human ensembl 74_37 -1 known silent c.753 p.S251 0.997 pirsf_TF_Runt-rel_RUNX pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_D-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX3 HGNC ENSG00000020633 tier1 - - 166 0 0.00 39 24 38.10 112 0 0.00 28 13 31.71 TOX 0 genome.wustl.edu 37 8 59727987 59727987 + Missense_Mutation SNP C C A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 8 59727987 59727987 C A SNP TOX ENST00000361421 human ensembl 74_37 -1 known missense c.1302 p.Q434H 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 tier1 - - 50 0 0.00 46 14 23.33 58 0 0.00 31 6 15.79 MYCBP2 0 genome.wustl.edu 37 13 77799597 77799597 + Nonsense_Mutation SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 13 77799597 77799597 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known nonsense c.2830 p.Q944* 1.000 superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 61 0 0.00 78 32 29.09 127 0 0.00 104 45 30.20 SLC26A4 0 genome.wustl.edu 37 7 107353040 107353040 + Silent SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 7 107353040 107353040 G A SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known silent c.2292 p.T764 0.076 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 tier1 rs139556627 - 62 0 0.00 59 14 19.18 125 0 0.00 133 30 18.40 KANK4 0 genome.wustl.edu 37 1 62737171 62737171 + Missense_Mutation SNP T T G TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 1 62737171 62737171 T G SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.1991 p.Q664P 1.000 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 tier1 - - 119 0 0.00 149 68 31.19 176 0 0.00 197 67 25.38 MMP9 0 genome.wustl.edu 37 20 44641114 44641114 + Missense_Mutation SNP G G T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 20 44641114 44641114 G T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.1223 p.G408V 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 tier1 - - 66 0 0.00 72 14 16.28 44 0 0.00 51 9 15.00 ENSG00000264542 0 genome.wustl.edu 37 11 106672147 106672147 + R SNP G G T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 11 106672147 106672147 G T SNP ENSG00000264542 ENST00000578526 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AP001282.1 Clone_based_ensembl_gene ENSG00000264542 tier1 - - 63 0 0.00 41 18 30.51 139 0 0.00 63 12 16.00 DLX1 0 genome.wustl.edu 37 2 172950516 172950516 + Silent SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 2 172950516 172950516 C T SNP DLX1 ENST00000361725 human ensembl 74_37 +1 known silent c.111 p.H37 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX1 HGNC ENSG00000144355 tier1 - - 73 0 0.00 51 14 21.54 132 0 0.00 114 28 19.72 AGTPBP1 0 genome.wustl.edu 37 9 88247722 88247722 + Missense_Mutation SNP G G T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 9 88247722 88247722 G T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.1906 p.L636I 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 tier1 - - 63 0 0.00 67 38 36.19 160 0 0.00 125 41 24.70 STAU2-AS1 0 genome.wustl.edu 37 8 74351352 74351352 + R SNP C C A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 8 74351352 74351352 C A SNP STAU2-AS1 ENST00000522703 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors STAU2-AS1 HGNC ENSG00000253302 tier1 - - 26 0 0.00 10 11 52.38 117 1 0.85 52 37 41.57 CCSER1 0 genome.wustl.edu 37 4 92520141 92520141 + Missense_Mutation SNP A A T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 4 92520141 92520141 A T SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.2636 p.K879M 1.000 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 55 0 0.00 36 8 18.18 172 0 0.00 128 30 18.87 ALMS1 0 genome.wustl.edu 37 2 73676274 73676274 + Missense_Mutation SNP A A T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 2 73676274 73676274 A T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.2617 p.T873S 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 36 0 0.00 38 11 22.45 142 0 0.00 99 16 13.91 ZFHX4 0 genome.wustl.edu 37 8 77768255 77768255 + Nonsense_Mutation SNP C C G TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 8 77768255 77768255 C G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known nonsense c.9098 p.S3033* 0.983 smart_Znf_U1 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 38 0 0.00 39 9 18.75 92 0 0.00 68 19 21.84 SLC39A10 0 genome.wustl.edu 37 2 196581640 196581640 + Missense_Mutation SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 2 196581640 196581640 C T SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known missense c.1976 p.S659F 0.989 pfam_ZIP pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 tier1 - - 80 0 0.00 58 8 12.12 86 0 0.00 72 11 13.25 UBXN10 0 genome.wustl.edu 37 1 20517768 20517768 + Silent SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 1 20517768 20517768 C T SNP UBXN10 ENST00000375099 human ensembl 74_37 +1 known silent c.714 p.H238 0.976 pfam_UBX,smart_UBX,pfscan_UBX pfam_UBX,smart_UBX,pfscan_UBX - no_errors UBXN10 HGNC ENSG00000162543 tier1 - - 47 0 0.00 13 9 40.91 205 0 0.00 42 38 46.91 LINGO1 0 genome.wustl.edu 37 15 77907078 77907078 + Missense_Mutation SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 15 77907078 77907078 G A SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.1171 p.R391W 0.995 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 rs199628078 - 68 0 0.00 47 9 16.07 37 0 0.00 38 5 11.36 LY75 0 genome.wustl.edu 37 2 160750457 160750457 + Missense_Mutation SNP T T C TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 2 160750457 160750457 T C SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.605 p.Y202C 0.159 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 39 0 0.00 29 20 40.82 145 0 0.00 49 43 46.74 SMG1 0 genome.wustl.edu 37 16 18840640 18840640 + Nonsense_Mutation SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 16 18840640 18840640 G A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known nonsense c.9571 p.Q3191* 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 - - 50 0 0.00 38 18 32.14 132 0 0.00 49 48 48.98 DKK2 0 genome.wustl.edu 37 4 107845150 107845150 + Silent SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 4 107845150 107845150 G A SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel silent c.741 p.Y247 1.000 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_D-bd - no_errors DKK2 HGNC ENSG00000155011 tier1 - - 34 0 0.00 10 7 41.18 133 1 0.75 87 21 19.44 SLC44A5 0 genome.wustl.edu 37 1 75669436 75669436 + Silent SNP T T C TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 1 75669436 75669436 T C SNP SLC44A5 ENST00000370859 human ensembl 74_37 -1 known silent c.2130 p.E710 0.000 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 tier1 - - 55 0 0.00 30 60 66.67 146 0 0.00 58 152 72.38 C5orf45 0 genome.wustl.edu 37 5 179268934 179268934 + Missense_Mutation SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 5 179268934 179268934 C T SNP C5orf45 ENST00000292586 human ensembl 74_37 -1 known missense c.422 p.R141H 0.000 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 tier1 - - 46 0 0.00 13 21 61.76 70 1 1.41 24 31 56.36 ZEB1 0 genome.wustl.edu 37 10 31812861 31812861 + Missense_Mutation SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 10 31812861 31812861 G A SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.2605 p.D869N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 tier1 - - 22 0 0.00 25 5 16.67 102 0 0.00 34 15 30.61 GPX5 0 genome.wustl.edu 37 6 28500188 28500188 + Silent SNP T T C TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 6 28500188 28500188 T C SNP GPX5 ENST00000412168 human ensembl 74_37 +1 known silent c.450 p.S150 0.971 pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase - no_errors GPX5 HGNC ENSG00000224586 tier1 - - 76 0 0.00 33 12 26.67 153 0 0.00 53 22 29.33 FAM120A 0 genome.wustl.edu 37 9 96291677 96291677 + Missense_Mutation SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 9 96291677 96291677 G A SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 tier1 - - 45 0 0.00 66 7 9.46 69 0 0.00 51 8 13.56 IGSF9 0 genome.wustl.edu 37 1 159899796 159899796 + R SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 1 159899796 159899796 G A SNP IGSF9 ENST00000496645 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IGSF9 HGNC ENSG00000085552 tier1 - - 68 0 0.00 38 40 51.28 67 0 0.00 32 25 43.86 TDRD6 0 genome.wustl.edu 37 6 46657281 46657281 + Missense_Mutation SNP G G C TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 6 46657281 46657281 G C SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.1416 p.E472D 0.003 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 39 0 0.00 22 8 26.67 142 0 0.00 43 15 25.86 MRGPRX4 0 genome.wustl.edu 37 11 18195098 18195098 + Missense_Mutation SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 11 18195098 18195098 G A SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known missense c.295 p.V99I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 tier1 - - 43 0 0.00 20 9 31.03 103 0 0.00 38 32 45.71 CCNH 0 genome.wustl.edu 37 5 86707051 86707051 + Missense_Mutation SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 5 86707051 86707051 C T SNP CCNH ENST00000256897 human ensembl 74_37 -1 known missense c.230 p.R77K 0.999 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC,tigrfam_CyclinH/Ccl1 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC,tigrfam_CyclinH/Ccl1 - no_errors CCNH HGNC ENSG00000134480 tier1 - - 74 0 0.00 41 28 40.58 231 0 0.00 72 54 42.86 PKHD1 0 genome.wustl.edu 37 6 51892681 51892681 + Missense_Mutation SNP T T A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 6 51892681 51892681 T A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.3574 p.I1192F 0.984 superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 47 0 0.00 6 6 50.00 143 0 0.00 6 49 89.09 PRPF4B 0 genome.wustl.edu 37 6 4037782 4037782 + Missense_Mutation SNP A A G TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 6 4037782 4037782 A G SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known missense c.1390 p.R464G 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 tier1 - - 34 0 0.00 0 10 100.00 82 0 0.00 5 41 89.13 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934578 - 27 0 0.00 4 25 86.21 55 0 0.00 8 40 83.33 BPIFB6 0 genome.wustl.edu 37 20 31622058 31622058 + Silent SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 20 31622058 31622058 C T SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known silent c.264 p.F88 1.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 tier1 - - 44 0 0.00 50 9 15.25 124 0 0.00 137 15 9.87 NRDE2 0 genome.wustl.edu 37 14 90756883 90756883 + Silent SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 14 90756883 90756883 C T SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known silent c.1911 p.V637 0.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 tier1 - - 29 0 0.00 22 6 21.43 107 0 0.00 98 8 7.55 CHRFAM7A 0 genome.wustl.edu 37 15 30665316 30665316 + Missense_Mutation SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 15 30665316 30665316 G A SNP CHRFAM7A ENST00000299847 human ensembl 74_37 -1 known missense c.193 p.R65C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC ENSG00000166664 tier1 - - 65 0 0.00 57 9 13.64 96 0 0.00 60 6 9.09 SOX5 0 genome.wustl.edu 37 12 23998927 23998927 + Silent SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 12 23998927 23998927 G A SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known silent c.471 p.N157 0.994 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 tier1 rs149450279 - 28 0 0.00 28 4 12.50 99 1 1.00 60 4 6.25 SYCP1 0 genome.wustl.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 1 115537600 115537601 - A INS SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_ins c.2891_2892 p.K968fs 1.000:1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 44 0 0.00 31 3 8.82 95 0 0.00 43 8 15.69 ATXN8OS 0 genome.wustl.edu 37 13 70713512 70713512 + R SNP A A G TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 13 70713512 70713512 A G SNP ATXN8OS ENST00000414504 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATXN8OS HGNC ENSG00000230223 tier1 rs2021426 - 36 0 0.00 41 6 12.77 0 0 0.00 2 0 0.00 MT-CO1 0 genome.wustl.edu 37 MT 7198 7198 + Missense_Mutation SNP G G A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 MT 7198 7198 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.1295 p.G432D NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 47 0 0.00 13 2 13.33 1 0 0.00 1 0 0.00 IGFN1 0 genome.wustl.edu 37 1 201166387 201166387 + Silent SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 1 201166387 201166387 C T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known silent c.309 p.C103 0.676 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 - - 44 0 0.00 42 4 8.70 58 0 0.00 43 3 6.52 PAK1 0 genome.wustl.edu 37 11 77048422 77048422 + Missense_Mutation SNP C C A TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b14de9fa-e0f4-4b94-90c3-e3f0392b5f17 2aa256b7-1d6e-4de9-89f3-c13f1318af23 11 77048422 77048422 C A SNP PAK1 ENST00000278568 human ensembl 74_37 -1 known missense c.1163 p.R388I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK1 HGNC ENSG00000149269 tier1 - - 40 0 0.00 36 4 10.00 113 0 0.00 74 2 2.63