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 AFF2 0 genome.wustl.edu 37 X 147733596 147733596 + Missense_Mutation SNP G G T TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 X 147733596 147733596 G T SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known missense c.124 p.D42Y 0.998 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 93 0 0.00 62 25 28.74 - - - C16orf48 0 genome.wustl.edu 37 16 67697208 67697208 + Silent SNP C C A TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 16 67697208 67697208 C A SNP C16orf48 ENST00000243878 human ensembl 69_37n -1 known silent c.897 p.L299 0.699 NULL NULL - no_errors C16orf48 HGNC ENSG00000124074 19 0 0.00 6 4 40.00 - - - CACNB3 0 genome.wustl.edu 37 12 49220772 49220772 + Missense_Mutation SNP A A G TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 12 49220772 49220772 A G SNP CACNB3 ENST00000301050 human ensembl 69_37n +1 known missense c.1006 p.I336V 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 29 0 0.00 19 5 20.83 - - - CDCA2 0 genome.wustl.edu 37 8 25341520 25341520 + Missense_Mutation SNP A A G TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 8 25341520 25341520 A G SNP CDCA2 ENST00000330560 human ensembl 69_37n +1 known missense c.1159 p.M387V 0.000 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 40 0 0.00 29 18 38.30 - - - DMD 0 genome.wustl.edu 37 X 31165493 31165493 + Missense_Mutation SNP G G A TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 X 31165493 31165493 G A SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.10696 p.R3566C 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 46 0 0.00 31 8 20.51 - - - DNMT3B 0 genome.wustl.edu 37 20 31376692 31376692 + Silent SNP G G A TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 20 31376692 31376692 G A SNP DNMT3B ENST00000328111 human ensembl 69_37n +1 known silent c.687 p.V229 0.998 pfam_PWWP,smart_PWWP,pfscan_PWWP pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3B HGNC ENSG00000088305 48 0 0.00 29 20 40.82 - - - EHBP1L1 0 genome.wustl.edu 37 11 65350230 65350230 + Missense_Mutation SNP C C G TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 11 65350230 65350230 C G SNP EHBP1L1 ENST00000309295 human ensembl 69_37n +1 known missense c.2087 p.S696C 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 27 0 0.00 23 29 55.77 - - - EHBP1L1 0 genome.wustl.edu 37 11 65351789 65351789 + Missense_Mutation SNP C C G TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 11 65351789 65351789 C G SNP EHBP1L1 ENST00000533465 human ensembl 69_37n +1 putative missense c.319 p.P107A 0.989 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EHBP1L1 HGNC ENSG00000173442 20 0 0.00 5 13 72.22 - - - EHBP1L1 0 genome.wustl.edu 37 11 65351858 65351858 + Nonsense_Mutation SNP C C G TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 11 65351858 65351858 C G SNP EHBP1L1 ENST00000309295 human ensembl 69_37n +1 known nonsense c.3240 p.Y1080* 0.999 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 21 0 0.00 8 11 57.89 - - - FGG 0 genome.wustl.edu 37 4 155533321 155533321 + Splice_Site SNP T T A TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 4 155533321 155533321 T A SNP FGG ENST00000443553 human ensembl 69_37n -1 putative splice_site c.1-2 e1-2 1.000 - - - no_stop_codon FGG HGNC ENSG00000171557 48 0 0.00 72 11 13.25 - - - GBA3 0 genome.wustl.edu 37 4 22749308 22749308 + Missense_Mutation SNP G G A TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 4 22749308 22749308 G A SNP GBA3 ENST00000508166 human ensembl 69_37n +1 known missense c.676 p.A226T 0.000 NULL NULL - pseudogene GBA3 HGNC ENSG00000249948 42 0 0.00 28 20 41.67 - - - HERC1 0 genome.wustl.edu 37 15 64041947 64041947 + Missense_Mutation SNP G G A TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 15 64041947 64041947 G A SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.1946 p.S649L 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 36 0 0.00 25 7 21.21 - - - HEXB 0 genome.wustl.edu 37 5 73985157 73985157 + Missense_Mutation SNP C C T TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 5 73985157 73985157 C T SNP HEXB ENST00000261416 human ensembl 69_37n +1 known missense c.304 p.H102Y 0.168 pfam_Glyco_hydro_20b pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC ENSG00000049860 66 0 0.00 47 7 12.96 - - - IFITM3 0 genome.wustl.edu 37 11 319891 319891 + Missense_Mutation SNP T T A TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 11 319891 319891 T A SNP IFITM3 ENST00000399808 human ensembl 69_37n -1 known missense c.349 p.M117L 0.000 pfam_Interferon-induced_TM_protein pfam_Interferon-induced_TM_protein - no_errors IFITM3 HGNC ENSG00000142089 39 0 0.00 13 8 38.10 - - - LSM14B 0 genome.wustl.edu 37 20 60701300 60701300 + Missense_Mutation SNP G G A TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 20 60701300 60701300 G A SNP LSM14B ENST00000400318 human ensembl 69_37n +1 known missense c.310 p.E104K 0.023 NULL pfam_FDF_dom,superfamily_LSM_dom - no_stop_codon LSM14B HGNC ENSG00000149657 21 0 0.00 15 5 25.00 - - - MEF2A 0 genome.wustl.edu 37 15 100247006 100247006 + Missense_Mutation SNP A A G TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 15 100247006 100247006 A G SNP MEF2A ENST00000338042 human ensembl 69_37n +1 known missense c.958 p.S320G 0.999 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC ENSG00000068305 37 0 0.00 26 19 42.22 - - - NAALADL2 0 genome.wustl.edu 37 3 175520852 175520852 + Missense_Mutation SNP G G T TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 3 175520852 175520852 G T SNP NAALADL2 ENST00000454872 human ensembl 69_37n +1 known missense c.2249 p.W750L 0.513 superfamily_TFR-like_dimer_dom superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 46 0 0.00 37 9 19.15 - - - NBPF1 0 genome.wustl.edu 37 1 16905718 16905718 + RNA SNP A A C TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 1 16905718 16905718 A C SNP NBPF1 ENST00000430580 human ensembl 69_37n -1 known rna NULL NULL 0.008 - - - no_errors NBPF1 HGNC ENSG00000219481 27 0 0.00 28 7 20.00 - - - OR2A5 0 genome.wustl.edu 37 7 143747698 143747698 + Silent SNP T T C TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 7 143747698 143747698 T C SNP OR2A5 ENST00000408906 human ensembl 69_37n +1 known silent c.204 p.I68 0.003 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2A5 HGNC ENSG00000221836 39 0 0.00 41 18 30.51 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 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 77 0 0.00 21 45 68.18 - - - POLR2J 0 genome.wustl.edu 37 7 102119254 102119256 + Splice_Site DEL CTT CTT - TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 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 22 0 0.00 4 2 33.33 - - - PTPRC 0 genome.wustl.edu 37 1 198697545 198697545 + Silent SNP C C T TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 1 198697545 198697545 C T SNP PTPRC ENST00000367376 human ensembl 69_37n +1 known silent c.1797 p.Y599 0.998 pirsf_Leukocyte_common_ag pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 76 0 0.00 42 20 32.26 - - - SAMHD1 0 genome.wustl.edu 37 20 35533890 35533890 + Missense_Mutation SNP C C G TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 20 35533890 35533890 C G SNP SAMHD1 ENST00000262878 human ensembl 69_37n -1 known missense c.1287 p.E429D 1.000 NULL pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 48 0 0.00 76 9 10.59 - - - SLCO1C1 0 genome.wustl.edu 37 12 20905442 20905442 + Missense_Mutation SNP G G A TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 12 20905442 20905442 G A SNP SLCO1C1 ENST00000266509 human ensembl 69_37n +1 known missense c.2119 p.G707S 1.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 38 0 0.00 40 14 25.45 - - - TMCC2 0 genome.wustl.edu 37 1 205210727 205210727 + Missense_Mutation SNP C C T TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 1 205210727 205210727 C T SNP TMCC2 ENST00000358024 human ensembl 69_37n +1 known missense c.302 p.T101M 0.261 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 13 0 0.00 16 7 30.43 - - - TP53 0 genome.wustl.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 17 7578271 7578271 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.578 p.H193R 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 47 0 0.00 23 17 42.50 - - - UBR2 0 genome.wustl.edu 37 6 42585066 42585066 + Missense_Mutation SNP C C T TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 6 42585066 42585066 C T SNP UBR2 ENST00000372899 human ensembl 69_37n +1 known missense c.1271 p.A424V 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 55 0 0.00 38 19 33.33 - - - WNT7A 0 genome.wustl.edu 37 3 13896211 13896211 + Missense_Mutation SNP C C T TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 3 13896211 13896211 C T SNP WNT7A ENST00000285018 human ensembl 69_37n -1 known missense c.388 p.D130N 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7A HGNC ENSG00000154764 29 0 0.00 14 5 26.32 - - - ZBTB7C 0 genome.wustl.edu 37 18 45566387 45566387 + Silent SNP C C T TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 18 45566387 45566387 C T SNP ZBTB7C ENST00000332053 human ensembl 69_37n -1 known silent c.1092 p.Q364 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 18 0 0.00 7 6 46.15 - - - ZBTB7C 0 genome.wustl.edu 37 18 45566388 45566388 + Missense_Mutation SNP T T G TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 18 45566388 45566388 T G SNP ZBTB7C ENST00000332053 human ensembl 69_37n -1 known missense c.1091 p.Q364P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 17 0 0.00 7 6 46.15 - - - ZNF804B 0 genome.wustl.edu 37 7 88963249 88963249 + Missense_Mutation SNP T T C TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3 1fee18d6-ef4c-4d28-a30b-874845f32193 7 88963249 88963249 T C SNP ZNF804B ENST00000333190 human ensembl 69_37n +1 known missense c.953 p.I318T 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 20 0 0.00 16 4 20.00 - - -