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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ANP32AP1 0 genome.wustl.edu 37 15 35530020 35530020 + RNA SNP A A T TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 15 35530020 35530020 A T SNP ANP32AP1 ENST00000560832 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ANP32AP1 HGNC ENSG00000259516 280 0 0.00 208 26 11.11 - - - ARHGEF7 0 genome.wustl.edu 37 13 111927099 111927099 + Missense_Mutation SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 13 111927099 111927099 G A SNP ARHGEF7 ENST00000375741 human ensembl 69_37n +1 known missense c.1297 p.D433N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,prints_SH3_domain,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF7 HGNC ENSG00000102606 166 0 0.00 104 57 35.40 - - - ATP2B3 0 genome.wustl.edu 37 X 152825329 152825329 + Missense_Mutation SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de X 152825329 152825329 G A SNP ATP2B3 ENST00000263519 human ensembl 69_37n +1 known missense c.2768 p.R923H 0.785 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 82 0 0.00 69 16 18.82 - - - AZI2 0 genome.wustl.edu 37 3 28381938 28381938 + Frame_Shift_Del DEL T T - TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 3 28381938 28381938 T - DEL AZI2 ENST00000479665 human ensembl 69_37n -1 known frame_shift_del c.171 p.E58fs 0.998 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 118 0 0.00 108 14 11.38 - - - C1orf114 0 genome.wustl.edu 37 1 169391472 169391472 + Missense_Mutation SNP G G C TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 1 169391472 169391472 G C SNP C1orf114 ENST00000367806 human ensembl 69_37n -1 known missense c.197 p.S66C 0.303 NULL NULL - no_errors C1orf114 HGNC ENSG00000117477 95 0 0.00 95 14 12.84 - - - C3orf30 0 genome.wustl.edu 37 3 118865255 118865255 + Missense_Mutation SNP C C T TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 3 118865255 118865255 C T SNP C3orf30 ENST00000460150 human ensembl 69_37n +1 putative missense c.109 p.R37W 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C3orf30 HGNC ENSG00000163424 34 0 0.00 18 4 18.18 - - - CCDC168 0 genome.wustl.edu 37 13 103385602 103385602 + Silent SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 13 103385602 103385602 G A SNP CCDC168 ENST00000322527 human ensembl 69_37n -1 known silent c.3558 p.I1186 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 138 0 0.00 113 16 12.40 - - - CYP4F30P 0 genome.wustl.edu 37 2 131438159 131438159 + RNA DEL A A - TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 2 131438159 131438159 A - DEL CYP4F30P ENST00000397485 human ensembl 69_37n +1 known rna NULL NULL 0.102 - - - no_errors CYP4F30P HGNC ENSG00000214081 8 0 0.00 6 3 33.33 - - - DDX21 0 genome.wustl.edu 37 10 70723131 70723131 + Missense_Mutation SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 10 70723131 70723131 G A SNP DDX21 ENST00000354185 human ensembl 69_37n +1 known missense c.692 p.R231Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 106 0 0.00 73 9 10.98 - - - DEF6 0 genome.wustl.edu 37 6 35277530 35277530 + Missense_Mutation SNP C C T TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 6 35277530 35277530 C T SNP DEF6 ENST00000444278 human ensembl 69_37n +1 known missense c.16 p.R6W 0.753 NULL NULL - no_start_codon:pseudogene:no_stop_codon DEF6 HGNC ENSG00000023892 65 0 0.00 61 24 28.24 - - - DENND4B 0 genome.wustl.edu 37 1 153912704 153912704 + Missense_Mutation SNP G G C TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 1 153912704 153912704 G C SNP DENND4B ENST00000361217 human ensembl 69_37n -1 known missense c.1531 p.R511G 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 88 0 0.00 63 9 12.50 - - - DISP2 0 genome.wustl.edu 37 15 40661552 40661552 + Missense_Mutation SNP C C T TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 15 40661552 40661552 C T SNP DISP2 ENST00000267889 human ensembl 69_37n +1 known missense c.3239 p.A1080V 1.000 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 36 0 0.00 17 5 22.73 - - - DKC1 0 genome.wustl.edu 37 X 153996568 153996568 + Silent SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de X 153996568 153996568 G A SNP DKC1 ENST00000437719 human ensembl 69_37n +1 novel silent c.621 p.V207 0.000 superfamily_PsdUridine_synth_cat_dom,tigrfam_Pseudouridine_synthase-related pfam_Dyskerin-like,pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_Pseudouridine_synthase-related - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DKC1 HGNC ENSG00000130826 257 0 0.00 248 33 11.70 - - - EMR2 0 genome.wustl.edu 37 19 14865766 14865766 + Nonsense_Mutation SNP C C A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 19 14865766 14865766 C A SNP EMR2 ENST00000392964 human ensembl 69_37n -1 known nonsense c.583 p.G195* 0.999 NULL prints_GPCR_2_CD97 - no_errors EMR2 HGNC ENSG00000127507 61 0 0.00 30 11 26.83 - - - GLB1 0 genome.wustl.edu 37 3 33055654 33055654 + Missense_Mutation SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 3 33055654 33055654 G A SNP GLB1 ENST00000445488 human ensembl 69_37n -1 known missense c.1772 p.S591L 0.011 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 104 0 0.00 61 41 40.20 - - - ING1 0 genome.wustl.edu 37 13 111366554 111366554 + Missense_Mutation SNP C C G TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 13 111366554 111366554 C G SNP ING1 ENST00000333219 human ensembl 69_37n +1 known missense c.58 p.L20V 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 31 0 0.00 23 60 72.29 - - - ING1 0 genome.wustl.edu 37 13 111368180 111368180 + Silent SNP C C G TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 13 111368180 111368180 C G SNP ING1 ENST00000375774 human ensembl 69_37n +1 known silent c.390 p.L130 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 14 0 0.00 20 58 74.36 - - - KLHL26 0 genome.wustl.edu 37 19 18779780 18779780 + Missense_Mutation SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 19 18779780 18779780 G A SNP KLHL26 ENST00000300976 human ensembl 69_37n +1 known missense c.1573 p.D525N 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 23 0 0.00 9 5 35.71 - - - LRP6 0 genome.wustl.edu 37 12 12397448 12397448 + Missense_Mutation SNP T T C TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 12 12397448 12397448 T C SNP LRP6 ENST00000261349 human ensembl 69_37n -1 known missense c.197 p.Y66C 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 126 0 0.00 84 19 18.27 - - - MARCO 0 genome.wustl.edu 37 2 119750776 119750776 + Nonsense_Mutation SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 2 119750776 119750776 G A SNP MARCO ENST00000327097 human ensembl 69_37n +1 known nonsense c.1329 p.W443* 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors MARCO HGNC ENSG00000019169 112 0 0.00 102 13 11.30 - - - OGG1 0 genome.wustl.edu 37 3 9798276 9798276 + Missense_Mutation SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 3 9798276 9798276 G A SNP OGG1 ENST00000302036 human ensembl 69_37n +1 known missense c.869 p.G290E 0.129 superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC ENSG00000114026 42 0 0.00 34 16 32.00 - - - OR10G4 0 genome.wustl.edu 37 11 123886964 123886964 + Missense_Mutation SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 11 123886964 123886964 G A SNP OR10G4 ENST00000320891 human ensembl 69_37n +1 known missense c.683 p.R228H 0.008 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 329 0 0.00 178 45 20.18 - - - OR4D6 0 genome.wustl.edu 37 11 59225149 59225149 + Missense_Mutation SNP C C A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 11 59225149 59225149 C A SNP OR4D6 ENST00000300127 human ensembl 69_37n +1 known missense c.716 p.T239K 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D6 HGNC ENSG00000166884 92 0 0.00 68 10 12.82 - - - PTPRF 0 genome.wustl.edu 37 1 44086512 44086512 + Missense_Mutation SNP G G C TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 1 44086512 44086512 G C SNP PTPRF ENST00000359947 human ensembl 69_37n +1 known missense c.5368 p.G1790R 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 72 0 0.00 50 10 16.67 - - - RASIP1 0 genome.wustl.edu 37 19 49230688 49230688 + Splice_Site SNP C C T TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 19 49230688 49230688 C T SNP RASIP1 ENST00000222145 human ensembl 69_37n -1 known splice_site c.1834-1 e5-1 1.000 - - - no_errors RASIP1 HGNC ENSG00000105538 87 0 0.00 46 15 24.59 - - - RIOK1 0 genome.wustl.edu 37 6 7393371 7393371 + Silent SNP C C T TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 6 7393371 7393371 C T SNP RIOK1 ENST00000379834 human ensembl 69_37n +1 known silent c.111 p.D37 0.000 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 103 0 0.00 128 18 12.33 - - - RXRG 0 genome.wustl.edu 37 1 165380213 165380213 + Silent SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 1 165380213 165380213 G A SNP RXRG ENST00000359842 human ensembl 69_37n -1 known silent c.756 p.S252 0.999 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 112 0 0.00 116 13 10.08 - - - SETD2 0 genome.wustl.edu 37 3 47163294 47163294 + Missense_Mutation SNP A A C TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 3 47163294 47163294 A C SNP SETD2 ENST00000445387 human ensembl 69_37n -1 known missense c.1732 p.F578V 0.134 NULL pfam_SET_dom,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SETD2 HGNC ENSG00000181555 93 0 0.00 52 11 17.46 - - - SLC24A4 0 genome.wustl.edu 37 14 92922791 92922791 + Missense_Mutation SNP C C T TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 14 92922791 92922791 C T SNP SLC24A4 ENST00000532405 human ensembl 69_37n +1 known missense c.1094 p.P365L 0.981 tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A4 HGNC ENSG00000140090 50 0 0.00 34 5 12.82 - - - SNAP25 0 genome.wustl.edu 37 20 10279990 10279990 + Missense_Mutation SNP G G A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 20 10279990 10279990 G A SNP SNAP25 ENST00000254976 human ensembl 69_37n +1 known missense c.482 p.R161H 1.000 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP25 HGNC ENSG00000132639 57 0 0.00 36 6 14.29 - - - SPINK5 0 genome.wustl.edu 37 5 147477448 147477448 + Missense_Mutation SNP C C G TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 5 147477448 147477448 C G SNP SPINK5 ENST00000359874 human ensembl 69_37n +1 known missense c.901 p.Q301E 0.026 smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC ENSG00000133710 108 0 0.00 73 21 22.34 - - - THSD7B 0 genome.wustl.edu 37 2 138000041 138000041 + Missense_Mutation SNP C C G TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 2 138000041 138000041 C G SNP THSD7B ENST00000272643 human ensembl 69_37n +1 known missense c.2165 p.T722S 0.217 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 172 0 0.00 86 20 18.87 - - - TP53 0 genome.wustl.edu 37 17 7577610 7577610 + Splice_Site SNP T T C TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 17 7577610 7577610 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known splice_site c.673-2 e6-2 0.999 - - - no_errors TP53 HGNC ENSG00000141510 58 0 0.00 33 11 25.00 - - - ZNF496 0 genome.wustl.edu 37 1 247464502 247464502 + Silent SNP C C A TCGA-GM-A2DF-01A-11D-A17W-09 TCGA-GM-A2DF-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7456abd5-303e-4e6f-bf4e-47efefc7310f 12ca0b20-2f39-43df-a572-28f4069502de 1 247464502 247464502 C A SNP ZNF496 ENST00000366498 human ensembl 69_37n -1 known silent c.1191 p.G397 0.709 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 49 0 0.00 31 6 16.22 - - -