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 ADAMTS5 0 genome.wustl.edu 37 21 28305265 28305265 + Missense_Mutation SNP G G T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 21 28305265 28305265 G T SNP ADAMTS5 ENST00000284987 human ensembl 69_37n -1 known missense c.1788 p.N596K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 182 0 0.00 100 54 35.06 - - - ATP8B3 0 genome.wustl.edu 37 19 1802548 1802548 + Missense_Mutation SNP A A C TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 19 1802548 1802548 A C SNP ATP8B3 ENST00000539485 human ensembl 69_37n -1 known missense c.1001 p.L334R 0.984 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 220 0 0.00 113 51 30.91 - - - BMP8B 0 genome.wustl.edu 37 1 40226145 40226145 + Silent SNP A A G TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 1 40226145 40226145 A G SNP BMP8B ENST00000372827 human ensembl 69_37n -1 known silent c.1155 p.N385 0.946 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8B HGNC ENSG00000116985 78 0 0.00 38 5 11.63 - - - CD96 0 genome.wustl.edu 37 3 111304209 111304209 + Missense_Mutation SNP C C A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 3 111304209 111304209 C A SNP CD96 ENST00000283285 human ensembl 69_37n +1 known missense c.839 p.T280K 0.000 pfscan_Ig-like smart_Ig_sub,pfscan_Ig-like - no_errors CD96 HGNC ENSG00000153283 278 0 0.00 192 117 37.86 - - - CDHR2 0 genome.wustl.edu 37 5 176004515 176004515 + Missense_Mutation SNP C C T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 5 176004515 176004515 C T SNP CDHR2 ENST00000261944 human ensembl 69_37n +1 known missense c.1310 p.A437V 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 80 0 0.00 29 14 31.82 - - - DNAH5 0 genome.wustl.edu 37 5 13902213 13902213 + Missense_Mutation SNP G G A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 5 13902213 13902213 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known missense c.1679 p.A560V 1.000 pfam_Dynein_heavy_dom-1 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 210 0 0.00 238 93 28.01 - - - DOCK3 0 genome.wustl.edu 37 3 51393602 51393602 + Missense_Mutation SNP C C A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 3 51393602 51393602 C A SNP DOCK3 ENST00000266037 human ensembl 69_37n +1 known missense c.4332 p.S1444R 1.000 pfam_DOCK pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 222 0 0.00 127 67 34.18 - - - DSG1 0 genome.wustl.edu 37 18 28934692 28934692 + Missense_Mutation SNP G G C TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 18 28934692 28934692 G C SNP DSG1 ENST00000257192 human ensembl 69_37n +1 known missense c.2533 p.D845H 0.997 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin,pfscan_Cadherin - no_errors DSG1 HGNC ENSG00000134760 148 0 0.00 83 56 40.29 - - - ELAC2 0 genome.wustl.edu 37 17 12897055 12897055 + Missense_Mutation SNP G G A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 17 12897055 12897055 G A SNP ELAC2 ENST00000584650 human ensembl 69_37n -1 novel missense c.1601 p.S534F 0.996 NULL pfam_Beta-lactamas-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ELAC2 HGNC ENSG00000006744 148 0 0.00 83 36 30.00 - - - ENOX1 0 genome.wustl.edu 37 13 43810874 43810874 + Nonsense_Mutation SNP C C A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 13 43810874 43810874 C A SNP ENOX1 ENST00000261488 human ensembl 69_37n -1 known nonsense c.1612 p.E538* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 316 1 0.32 238 150 38.56 - - - FCHO1 0 genome.wustl.edu 37 19 17883272 17883272 + Nonsense_Mutation SNP C C T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 19 17883272 17883272 C T SNP FCHO1 ENST00000252771 human ensembl 69_37n +1 known nonsense c.601 p.Q201* 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH - no_errors FCHO1 HGNC ENSG00000130475 137 0 0.00 52 43 44.79 - - - GP1BA 0 genome.wustl.edu 37 17 4837651 4837651 + Missense_Mutation SNP G G C TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 17 4837651 4837651 G C SNP GP1BA ENST00000329125 human ensembl 69_37n +1 known missense c.1752 p.R584S 0.281 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 121 0 0.00 48 29 37.66 - - - HIP1R 0 genome.wustl.edu 37 12 123345688 123345688 + Missense_Mutation SNP T T G TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 12 123345688 123345688 T G SNP HIP1R ENST00000253083 human ensembl 69_37n +1 known missense c.2901 p.D967E 1.000 pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1R HGNC ENSG00000130787 43 0 0.00 16 12 42.86 - - - KATNB1 0 genome.wustl.edu 37 16 57786814 57786814 + Missense_Mutation SNP G G A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 16 57786814 57786814 G A SNP KATNB1 ENST00000379661 human ensembl 69_37n +1 known missense c.829 p.D277N 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 30 0 0.00 3 8 66.67 - - - KLHL30 0 genome.wustl.edu 37 2 239049614 239049614 + Silent SNP C C T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 2 239049614 239049614 C T SNP KLHL30 ENST00000409223 human ensembl 69_37n +1 known silent c.219 p.R73 0.612 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like 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 KLHL30 HGNC ENSG00000168427 27 0 0.00 9 10 52.63 - - - KRBA1 0 genome.wustl.edu 37 7 149427674 149427674 + Missense_Mutation SNP C C T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 7 149427674 149427674 C T SNP KRBA1 ENST00000496259 human ensembl 69_37n +1 known missense c.1849 p.P617S 0.005 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KRBA1 HGNC ENSG00000133619 17 0 0.00 7 7 50.00 - - - MAP3K1 0 genome.wustl.edu 37 5 56178085 56178085 + Nonsense_Mutation SNP C C T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 5 56178085 56178085 C T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.3058 p.Q1020* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 117 0 0.00 64 58 47.54 - - - MAP3K1 0 genome.wustl.edu 37 5 56178466 56178467 + Frame_Shift_Ins INS - - T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 5 56178466 56178467 - T INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.3439_3440 p.T1148fs 1.000:0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 158 0 0.00 130 55 29.73 - - - NPHP4 0 genome.wustl.edu 37 1 5964847 5964847 + Missense_Mutation SNP C C T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 1 5964847 5964847 C T SNP NPHP4 ENST00000378156 human ensembl 69_37n -1 known missense c.1973 p.R658Q 0.001 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 108 0 0.00 47 30 37.97 - - - OLFML2A 0 genome.wustl.edu 37 9 127563854 127563854 + Missense_Mutation SNP G G T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 9 127563854 127563854 G T SNP OLFML2A ENST00000373580 human ensembl 69_37n +1 known missense c.831 p.K277N 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 64 0 0.00 34 17 33.33 - - - PCNXL2 0 genome.wustl.edu 37 1 233136233 233136233 + Nonsense_Mutation SNP C C A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 1 233136233 233136233 C A SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known nonsense c.5146 p.E1716* 1.000 pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 143 0 0.00 65 36 35.64 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 221 0 0.00 222 121 35.28 - - - PNMAL2 0 genome.wustl.edu 37 19 46998318 46998318 + Silent SNP C C T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 19 46998318 46998318 C T SNP PNMAL2 ENST00000377655 human ensembl 69_37n -1 known silent c.405 p.T135 0.001 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 37 0 0.00 15 8 34.78 - - - POLR2J 0 genome.wustl.edu 37 7 102119254 102119256 + Splice_Site DEL CTT CTT - TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 7 102119254 102119256 CTT - DEL POLR2J ENST00000393794 human ensembl 69_37n -1 known splice_site_del c.53+3_53+1 e2-1 1.000:1.000:1.000 - - - no_errors POLR2J HGNC ENSG00000005075 13 0 0.00 5 3 37.50 - - - RGS3 0 genome.wustl.edu 37 9 116346360 116346360 + Missense_Mutation SNP G G A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 9 116346360 116346360 G A SNP RGS3 ENST00000350696 human ensembl 69_37n +1 known missense c.2668 p.E890K 0.806 NULL pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 161 0 0.00 50 38 43.18 - - - SDHB 0 genome.wustl.edu 37 1 17355201 17355201 + Missense_Mutation SNP T T C TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 1 17355201 17355201 T C SNP SDHB ENST00000375499 human ensembl 69_37n -1 known missense c.317 p.N106S 0.998 superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S - no_errors SDHB HGNC ENSG00000117118 341 0 0.00 200 106 34.53 - - - SLC52A2 0 genome.wustl.edu 37 8 145584626 145584626 + Missense_Mutation SNP A A G TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 8 145584626 145584626 A G SNP SLC52A2 ENST00000329994 human ensembl 69_37n +1 known missense c.1289 p.Y430C 0.999 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 97 0 0.00 32 26 44.07 - - - SMARCA2 0 genome.wustl.edu 37 9 2088587 2088587 + Missense_Mutation SNP G G A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 9 2088587 2088587 G A SNP SMARCA2 ENST00000349721 human ensembl 69_37n +1 known missense c.2857 p.E953K 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 173 0 0.00 48 131 73.18 - - - SNORA48 0 genome.wustl.edu 37 17 7478063 7478063 + RNA SNP G G C TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 17 7478063 7478063 G C SNP SNORA48 ENST00000386847 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors SNORA48 HGNC ENSG00000209582 23 0 0.00 18 10 35.71 - - - SPATA1 0 genome.wustl.edu 37 1 85018792 85018792 + RNA SNP C C T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 1 85018792 85018792 C T SNP SPATA1 ENST00000460286 human ensembl 69_37n +1 known rna NULL NULL 0.616 - - - no_errors SPATA1 HGNC ENSG00000122432 26 0 0.00 42 25 37.31 - - - STAG2 0 genome.wustl.edu 37 X 123211834 123211834 + Missense_Mutation SNP A A G TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 X 123211834 123211834 A G SNP STAG2 ENST00000218089 human ensembl 69_37n +1 known missense c.2701 p.K901E 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 341 0 0.00 262 136 34.17 - - - TMSB15A 0 genome.wustl.edu 37 X 101769050 101769050 + Missense_Mutation SNP T T G TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 X 101769050 101769050 T G SNP TMSB15A ENST00000289373 human ensembl 69_37n -1 known missense c.103 p.I35L 0.948 pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata - no_errors TMSB15A HGNC ENSG00000158164 509 0 0.00 356 191 34.92 - - - TPTE 0 genome.wustl.edu 37 21 10921971 10921971 + Missense_Mutation SNP G G A TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 21 10921971 10921971 G A SNP TPTE ENST00000361285 human ensembl 69_37n -1 known missense c.1052 p.A351V 0.221 pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 375 0 0.00 338 65 15.97 - - - USP34 0 genome.wustl.edu 37 2 61492669 61492669 + Missense_Mutation SNP A A G TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 2 61492669 61492669 A G SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.5641 p.Y1881H 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 190 0 0.00 129 74 36.45 - - - XYLT2 0 genome.wustl.edu 37 17 48433561 48433561 + Missense_Mutation SNP T T C TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 17 48433561 48433561 T C SNP XYLT2 ENST00000017003 human ensembl 69_37n +1 known missense c.1421 p.I474T 1.000 pfam_Glyco_trans_14 pfam_XylT_met,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 68 0 0.00 27 19 41.30 - - - ZNF718 0 genome.wustl.edu 37 4 155283 155283 + RNA SNP C C T TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a6aa4529-7996-4b66-9632-2559293db35d 45514149-d01b-4bc9-864b-ed556da905c1 4 155283 155283 C T SNP ZNF718 ENST00000400172 human ensembl 69_37n +1 known rna NULL NULL 0.038 - - - no_errors ZNF718 HGNC ENSG00000250312 132 0 0.00 100 60 37.50 - - -