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 ABCG5 0 genome.wustl.edu 37 2 44055180 44055181 + Frame_Shift_Ins INS - - C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 2 44055180 44055181 - C INS ABCG5 ENST00000260645 human ensembl 69_37n -1 known frame_shift_ins c.576_575 p.I193fs 0.500:1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 28 0 0.00 16 2 11.11 - - - ACADVL 0 genome.wustl.edu 37 17 7123807 7123807 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 17 7123807 7123807 C T SNP ACADVL ENST00000356839 human ensembl 69_37n +1 known missense c.163 p.H55Y 0.000 NULL pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 32 0 0.00 2 5 71.43 - - - ALDH1A3 0 genome.wustl.edu 37 15 101438349 101438350 + Frame_Shift_Ins INS - - G TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 15 101438349 101438350 - G INS ALDH1A3 ENST00000329841 human ensembl 69_37n +1 known frame_shift_ins c.842_843 p.K284fs 0.999:0.008 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 23 0 0.00 19 3 13.64 - - - ANKRD34A 0 genome.wustl.edu 37 1 145473724 145473724 + Silent SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 1 145473724 145473724 C T SNP ANKRD34A ENST00000323397 human ensembl 69_37n +1 known silent c.396 p.D132 0.307 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 45 0 0.00 35 5 12.50 - - - BLM 0 genome.wustl.edu 37 15 91304296 91304296 + Missense_Mutation SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 15 91304296 91304296 G A SNP BLM ENST00000355112 human ensembl 69_37n +1 known missense c.1693 p.D565N 1.000 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 127 0 0.00 93 21 18.42 - - - BLM 0 genome.wustl.edu 37 15 91304368 91304368 + Nonsense_Mutation SNP G G T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 15 91304368 91304368 G T SNP BLM ENST00000355112 human ensembl 69_37n +1 known nonsense c.1765 p.E589* 1.000 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 115 0 0.00 69 17 19.77 - - - C7orf65 0 genome.wustl.edu 37 7 47694923 47694923 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 7 47694923 47694923 C T SNP C7orf65 ENST00000408988 human ensembl 69_37n +1 putative missense c.47 p.P16L 0.003 NULL NULL - no_errors C7orf65 HGNC ENSG00000221845 14 0 0.00 16 5 23.81 - - - CCDC155 0 genome.wustl.edu 37 19 49897775 49897775 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 19 49897775 49897775 C T SNP CCDC155 ENST00000447857 human ensembl 69_37n +1 known missense c.86 p.P29L 0.052 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 54 0 0.00 78 21 21.21 - - - CCND3 0 genome.wustl.edu 37 6 41908324 41908325 + Splice_Site INS - - T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 6 41908324 41908325 - T INS CCND3 ENST00000372991 human ensembl 69_37n -1 known splice_site_ins c.199-2_199-1 e2-1 1.000:1.000 - - - no_errors CCND3 HGNC ENSG00000112576 11 0 0.00 4 2 33.33 - - - CCNG2 0 genome.wustl.edu 37 4 78081937 78081939 + In_Frame_Del DEL GAA GAA - TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 4 78081937 78081939 GAA - DEL CCNG2 ENST00000316355 human ensembl 69_37n +1 known in_frame_del c.340_342 p.E115in_frame_del 1.000:1.000:1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNG2 HGNC ENSG00000138764 177 0 0.00 133 36 21.30 - - - CECR5 0 genome.wustl.edu 37 22 17630576 17630576 + Missense_Mutation SNP T T G TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 22 17630576 17630576 T G SNP CECR5 ENST00000336737 human ensembl 69_37n -1 known missense c.186 p.R62S 0.012 superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA - no_errors CECR5 HGNC ENSG00000069998 72 0 0.00 41 21 33.87 - - - CST3 0 genome.wustl.edu 37 20 23614578 23614578 + Missense_Mutation SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 20 23614578 23614578 G A SNP CST3 ENST00000376925 human ensembl 69_37n -1 known missense c.416 p.S139L 0.000 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST3 HGNC ENSG00000101439 63 0 0.00 29 5 14.71 - - - CTR9 0 genome.wustl.edu 37 11 10791787 10791787 + Missense_Mutation SNP C C G TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 11 10791787 10791787 C G SNP CTR9 ENST00000361367 human ensembl 69_37n +1 known missense c.2140 p.H714D 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 125 0 0.00 38 74 66.07 - - - DNAH5 0 genome.wustl.edu 37 5 13719037 13719037 + Silent SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 5 13719037 13719037 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known silent c.12453 p.N4151 0.905 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 182 0 0.00 117 27 18.75 - - - DNAH6 0 genome.wustl.edu 37 2 84800662 84800662 + Frame_Shift_Del DEL C C - TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 2 84800662 84800662 C - DEL DNAH6 ENST00000237449 human ensembl 69_37n +1 known frame_shift_del c.1875 p.F625fs 0.997 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 247 0 0.00 67 80 50.96 - - - DYNC2H1 0 genome.wustl.edu 37 11 103126208 103126208 + Frame_Shift_Del DEL A A - TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 11 103126208 103126208 A - DEL DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known frame_shift_del c.10292 p.Q3431fs 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 30 0 0.00 7 2 22.22 - - - FAIM2 0 genome.wustl.edu 37 12 50291851 50291851 + Silent SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 12 50291851 50291851 G A SNP FAIM2 ENST00000320634 human ensembl 69_37n -1 known silent c.234 p.N78 0.000 NULL pfam_Bax_inhibitor_1-related - no_errors FAIM2 HGNC ENSG00000135472 52 0 0.00 33 9 21.43 - - - FAM58A 0 genome.wustl.edu 37 X 152860004 152860004 + Splice_Site SNP C C A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 X 152860004 152860004 C A SNP FAM58A ENST00000406277 human ensembl 69_37n -1 known splice_site c.423+1 e5+1 1.000 - - - no_errors FAM58A HGNC ENSG00000147382 70 0 0.00 26 5 16.13 - - - FGD5 0 genome.wustl.edu 37 3 14862541 14862541 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 3 14862541 14862541 C T SNP FGD5 ENST00000285046 human ensembl 69_37n +1 known missense c.1963 p.R655C 0.977 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 76 0 0.00 117 61 34.08 - - - FLT3 0 genome.wustl.edu 37 13 28588649 28588649 + Silent SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 13 28588649 28588649 C T SNP FLT3 ENST00000380982 human ensembl 69_37n -1 known silent c.2808 p.R936 0.805 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC ENSG00000122025 58 0 0.00 55 9 14.06 - - - GPATCH1 0 genome.wustl.edu 37 19 33587282 33587282 + Missense_Mutation SNP G G C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 19 33587282 33587282 G C SNP GPATCH1 ENST00000170564 human ensembl 69_37n +1 known missense c.782 p.G261A 0.000 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 103 0 0.00 168 50 22.94 - - - GPR97 0 genome.wustl.edu 37 16 57717983 57717984 + Frame_Shift_Ins INS - - G TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 16 57717983 57717984 - G INS GPR97 ENST00000333493 human ensembl 69_37n +1 known frame_shift_ins c.1021_1022 p.A343fs 0.000:0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 46 0 0.00 34 4 10.53 - - - GTSE1 0 genome.wustl.edu 37 22 46712099 46712099 + Missense_Mutation SNP G G C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 22 46712099 46712099 G C SNP GTSE1 ENST00000454366 human ensembl 69_37n +1 known missense c.1222 p.E408Q 0.004 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 43 0 0.00 59 22 27.16 - - - GTSE1 0 genome.wustl.edu 37 22 46712226 46712226 + Missense_Mutation SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 22 46712226 46712226 G A SNP GTSE1 ENST00000454366 human ensembl 69_37n +1 known missense c.1349 p.R450K 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 83 0 0.00 103 41 28.47 - - - GYG2 0 genome.wustl.edu 37 X 2773101 2773101 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 X 2773101 2773101 C T SNP GYG2 ENST00000381163 human ensembl 69_37n +1 known missense c.485 p.P162L 0.998 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 96 0 0.00 48 10 17.24 - - - HAO1 0 genome.wustl.edu 37 20 7915232 7915232 + Missense_Mutation SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 20 7915232 7915232 G A SNP HAO1 ENST00000378789 human ensembl 69_37n -1 known missense c.188 p.S63L 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 181 0 0.00 95 23 19.49 - - - KDM4A 0 genome.wustl.edu 37 1 44133570 44133570 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 1 44133570 44133570 C T SNP KDM4A ENST00000372396 human ensembl 69_37n +1 known missense c.1043 p.P348L 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 155 0 0.00 105 37 26.06 - - - LARP4B 0 genome.wustl.edu 37 10 876875 876875 + Frame_Shift_Del DEL T T - TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 10 876875 876875 T - DEL LARP4B ENST00000316157 human ensembl 69_37n -1 known frame_shift_del c.793 p.I265fs 0.998 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 113 0 0.00 75 41 33.33 - - - LARP4B 0 genome.wustl.edu 37 10 876876 876876 + Missense_Mutation SNP A A C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 10 876876 876876 A C SNP LARP4B ENST00000316157 human ensembl 69_37n -1 known missense c.792 p.F264L 0.979 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 114 0 0.00 78 42 35.00 - - - MAST4 0 genome.wustl.edu 37 5 66461473 66461473 + Missense_Mutation SNP A A C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 5 66461473 66461473 A C SNP MAST4 ENST00000404260 human ensembl 69_37n +1 known missense c.6475 p.S2159R 0.005 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 17 0 0.00 6 4 40.00 - - - MEIS1 0 genome.wustl.edu 37 2 66798466 66798467 + Frame_Shift_Ins INS - - C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 2 66798466 66798467 - C INS MEIS1 ENST00000407092 human ensembl 69_37n +1 known frame_shift_ins c.1203_1204 p.H403fs 1.000:1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC ENSG00000143995 34 0 0.00 17 2 10.53 - - - MFSD4 0 genome.wustl.edu 37 1 205568262 205568262 + Missense_Mutation SNP T T C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 1 205568262 205568262 T C SNP MFSD4 ENST00000367147 human ensembl 69_37n +1 known missense c.1372 p.F458L 0.934 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC ENSG00000174514 256 0 0.00 332 46 12.14 - - - MIR133B 0 genome.wustl.edu 37 6 52013759 52013759 + RNA SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 6 52013759 52013759 C T SNP MIR133B ENST00000362210 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR133B HGNC ENSG00000199080 100 0 0.00 53 7 11.67 - - - MST1P9 0 genome.wustl.edu 37 1 17086183 17086183 + Splice_Site SNP T T G TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 1 17086183 17086183 T G SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known splice_site c.716-2 e7-2 0.997 - - - no_errors MST1P9 HGNC ENSG00000186715 31 0 0.00 9 4 30.77 - - - NIM1 0 genome.wustl.edu 37 5 43280303 43280303 + Frame_Shift_Del DEL G G - TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 5 43280303 43280303 G - DEL NIM1 ENST00000326035 human ensembl 69_37n +1 known frame_shift_del c.783 p.L261fs 0.724 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors AC114947.1 Clone_based_vega_gene ENSG00000177453 210 0 0.00 92 54 36.00 - - - NR4A2 0 genome.wustl.edu 37 2 157186373 157186374 + Frame_Shift_Ins INS - - G TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 2 157186373 157186374 - G INS NR4A2 ENST00000539077 human ensembl 69_37n -1 known frame_shift_ins c.359_358 p.Q120fs 1.000:1.000 prints_NURR_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 45 0 0.00 17 4 19.05 - - - NRXN1 0 genome.wustl.edu 37 2 51254940 51254941 + Frame_Shift_Ins INS - - C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 2 51254940 51254941 - C INS NRXN1 ENST00000402717 human ensembl 69_37n -1 known frame_shift_ins c.472_471 p.L157fs 0.999:0.996 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 19 0 0.00 3 3 50.00 - - - NWD1 0 genome.wustl.edu 37 19 16902312 16902312 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 19 16902312 16902312 C T SNP NWD1 ENST00000379808 human ensembl 69_37n +1 known missense c.3092 p.T1031M 0.038 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 42 0 0.00 66 66 50.00 - - - OR9Q1 0 genome.wustl.edu 37 11 57947558 57947558 + Silent SNP C C A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 11 57947558 57947558 C A SNP OR9Q1 ENST00000335397 human ensembl 69_37n +1 known silent c.642 p.I214 0.002 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR9Q1 HGNC ENSG00000186509 281 0 0.00 125 45 26.47 - - - OTC 0 genome.wustl.edu 37 X 38212026 38212026 + Missense_Mutation SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 X 38212026 38212026 G A SNP OTC ENST00000039007 human ensembl 69_37n +1 known missense c.77 p.R26Q 0.992 NULL pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf_euk,tigrfam_Orn/put_carbamltrans - no_errors OTC HGNC ENSG00000036473 98 0 0.00 86 46 34.85 - - - PCDHA1 0 genome.wustl.edu 37 5 140167380 140167380 + Missense_Mutation SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 5 140167380 140167380 G A SNP PCDHA1 ENST00000504120 human ensembl 69_37n +1 known missense c.1505 p.R502H 0.819 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 38 0 0.00 10 8 44.44 - - - PCDHB8 0 genome.wustl.edu 37 5 140559119 140559119 + Missense_Mutation SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 5 140559119 140559119 G A SNP PCDHB8 ENST00000239444 human ensembl 69_37n +1 known missense c.1504 p.A502T 0.588 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 245 0 0.00 85 11 11.34 - - - PI4K2B 0 genome.wustl.edu 37 4 25256819 25256819 + Missense_Mutation SNP T T C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 4 25256819 25256819 T C SNP PI4K2B ENST00000264864 human ensembl 69_37n +1 known missense c.556 p.Y186H 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2B HGNC ENSG00000038210 97 0 0.00 73 11 13.10 - - - PIK3R6 0 genome.wustl.edu 37 17 8726792 8726792 + RNA SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 17 8726792 8726792 C T SNP PIK3R6 ENST00000311434 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PIK3R6 HGNC ENSG00000174083 32 0 0.00 4 4 50.00 - - - PLOD3 0 genome.wustl.edu 37 7 100855926 100855927 + Frame_Shift_Ins INS - - G TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 7 100855926 100855927 - G INS PLOD3 ENST00000223127 human ensembl 69_37n -1 known frame_shift_ins c.890_889 p.R297fs 1.000:1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 14 0 0.00 13 3 18.75 - - - PON1 0 genome.wustl.edu 37 7 94944672 94944672 + Nonsense_Mutation SNP G G T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 7 94944672 94944672 G T SNP PON1 ENST00000222381 human ensembl 69_37n -1 known nonsense c.332 p.S111* 1.000 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 217 0 0.00 129 17 11.64 - - - PROKR1 0 genome.wustl.edu 37 2 68882405 68882405 + Silent SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 2 68882405 68882405 C T SNP PROKR1 ENST00000303786 human ensembl 69_37n +1 known silent c.879 p.Y293 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors PROKR1 HGNC ENSG00000169618 93 0 0.00 17 41 70.69 - - - RDH12 0 genome.wustl.edu 37 14 68192813 68192813 + Missense_Mutation SNP T T C TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 14 68192813 68192813 T C SNP RDH12 ENST00000267502 human ensembl 69_37n +1 known missense c.389 p.M130T 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH12 HGNC ENSG00000139988 191 0 0.00 167 31 15.66 - - - SDHAP2 0 genome.wustl.edu 37 3 195393030 195393030 + RNA SNP A A G TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 3 195393030 195393030 A G SNP SDHAP2 ENST00000429897 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SDHAP2 HGNC ENSG00000215837 29 0 0.00 31 7 18.42 - - - SLC6A14 0 genome.wustl.edu 37 X 115584214 115584214 + Missense_Mutation SNP G G T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 X 115584214 115584214 G T SNP SLC6A14 ENST00000371900 human ensembl 69_37n +1 known missense c.1192 p.A398S 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 315 0 0.00 252 52 17.05 - - - SLC7A3 0 genome.wustl.edu 37 X 70145947 70145947 + Missense_Mutation SNP C C A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 X 70145947 70145947 C A SNP SLC7A3 ENST00000298085 human ensembl 69_37n -1 known missense c.1702 p.A568S 0.999 tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 92 0 0.00 80 43 34.96 - - - SMOX 0 genome.wustl.edu 37 20 4163035 4163035 + Silent SNP C C A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 20 4163035 4163035 C A SNP SMOX ENST00000305958 human ensembl 69_37n +1 known silent c.909 p.G303 0.000 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 44 0 0.00 31 10 23.81 - - - STAT5A 0 genome.wustl.edu 37 17 40451780 40451780 + Nonsense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 17 40451780 40451780 C T SNP STAT5A ENST00000345506 human ensembl 69_37n +1 known nonsense c.562 p.Q188* 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 21 0 0.00 14 9 39.13 - - - TBL1X 0 genome.wustl.edu 37 X 9661244 9661244 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 X 9661244 9661244 C T SNP TBL1X ENST00000217964 human ensembl 69_37n +1 known missense c.947 p.T316M 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 84 0 0.00 54 30 35.71 - - - TBX3 0 genome.wustl.edu 37 12 115118704 115118706 + In_Frame_Del DEL TGT TGT - TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 12 115118704 115118706 TGT - DEL TBX3 ENST00000257566 human ensembl 69_37n -1 known in_frame_del c.637_635 p.N212in_frame_del 1.000:1.000:1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 140 0 0.00 48 22 31.43 - - - TCEB3 0 genome.wustl.edu 37 1 24082459 24082459 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 1 24082459 24082459 C T SNP TCEB3 ENST00000418390 human ensembl 69_37n +1 known missense c.1996 p.R666W 1.000 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC ENSG00000011007 59 0 0.00 82 21 20.39 - - - TIMELESS 0 genome.wustl.edu 37 12 56817240 56817240 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 12 56817240 56817240 C T SNP TIMELESS ENST00000553532 human ensembl 69_37n -1 known missense c.2110 p.V704I 0.650 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 89 0 0.00 85 16 15.84 - - - TNS4 0 genome.wustl.edu 37 17 38645003 38645003 + Missense_Mutation SNP C C A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 17 38645003 38645003 C A SNP TNS4 ENST00000254051 human ensembl 69_37n -1 known missense c.658 p.G220C 0.000 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 33 0 0.00 33 6 15.38 - - - TP53 0 genome.wustl.edu 37 17 7577102 7577102 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 17 7577102 7577102 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.836 p.G279E 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 66 0 0.00 32 37 53.62 - - - TPRG1 0 genome.wustl.edu 37 3 188925244 188925244 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 3 188925244 188925244 C T SNP TPRG1 ENST00000345063 human ensembl 69_37n +1 known missense c.71 p.S24F 0.922 NULL pfam_Inositol_phosphatase - no_errors TPRG1 HGNC ENSG00000188001 235 0 0.00 100 68 40.48 - - - TPTE2 0 genome.wustl.edu 37 13 20041393 20041394 + Frame_Shift_Ins INS - - A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 13 20041393 20041394 - A INS TPTE2 ENST00000382977 human ensembl 69_37n -1 known frame_shift_ins c.484_483 p.D161fs 0.051:0.027 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 167 0 0.00 111 16 12.60 - - - UBE3D 0 genome.wustl.edu 37 6 83767586 83767586 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 6 83767586 83767586 C T SNP UBE3D ENST00000369747 human ensembl 69_37n -1 known missense c.233 p.G78E 0.984 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 61 0 0.00 18 12 40.00 - - - WWP2 0 genome.wustl.edu 37 16 69970309 69970309 + Missense_Mutation SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 16 69970309 69970309 G A SNP WWP2 ENST00000356003 human ensembl 69_37n +1 known missense c.2071 p.G691S 0.998 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ENSG00000198373 23 0 0.00 1 4 80.00 - - - ZNF292 0 genome.wustl.edu 37 6 87969506 87969507 + Frame_Shift_Del DEL AG AG - TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 6 87969506 87969507 AG - DEL ZNF292 ENST00000369577 human ensembl 69_37n +1 known frame_shift_del c.6159_6160 p.E2054fs 0.961:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 106 0 0.00 24 34 57.63 - - - ZNF571 0 genome.wustl.edu 37 19 38055754 38055754 + Missense_Mutation SNP C C A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 19 38055754 38055754 C A SNP ZNF571 ENST00000328550 human ensembl 69_37n -1 known missense c.1576 p.G526C 0.984 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 346 0 0.00 302 117 27.92 - - - ZNF649 0 genome.wustl.edu 37 19 52395062 52395062 + Missense_Mutation SNP T T G TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29cd408e-a04b-418a-85e2-6ef95840ddbc 62c57a4a-eaa6-42ee-b8b2-80d44d3edcf8 19 52395062 52395062 T G SNP ZNF649 ENST00000354957 human ensembl 69_37n -1 known missense c.327 p.R109S 0.206 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF649 HGNC ENSG00000198093 242 0 0.00 234 41 14.91 - - -