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 ATXN1 0 genome.wustl.edu 37 6 16327705 16327705 + Missense_Mutation SNP G G C TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 6 16327705 16327705 G C SNP ATXN1 ENST00000244769 human ensembl 69_37n -1 known missense c.837 p.H279Q 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 56 0 0.00 18 12 40.00 - - - CES2 0 genome.wustl.edu 37 16 66974233 66974233 + Missense_Mutation SNP C C T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 16 66974233 66974233 C T SNP CES2 ENST00000317091 human ensembl 69_37n +1 known missense c.724 p.R242C 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 406 0 0.00 131 153 53.68 - - - DNAJC13 0 genome.wustl.edu 37 3 132166751 132166751 + Missense_Mutation SNP A A G TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 3 132166751 132166751 A G SNP DNAJC13 ENST00000260818 human ensembl 69_37n +1 known missense c.304 p.T102A 1.000 NULL pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 210 0 0.00 191 85 30.58 - - - EPPK1 0 genome.wustl.edu 37 8 144945136 144945136 + Silent SNP G G A TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 8 144945136 144945136 G A SNP EPPK1 ENST00000525985 human ensembl 69_37n -1 known silent c.2286 p.D762 0.975 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 117 0 0.00 173 34 16.43 - - - GDF2 0 genome.wustl.edu 37 10 48413719 48413719 + Missense_Mutation SNP C C A TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 10 48413719 48413719 C A SNP GDF2 ENST00000249598 human ensembl 69_37n -1 known missense c.1149 p.K383N 0.999 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 98 0 0.00 32 42 56.76 - - - MAPK6 0 genome.wustl.edu 37 15 52350913 52350913 + Missense_Mutation SNP G G C TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 15 52350913 52350913 G C SNP MAPK6 ENST00000261845 human ensembl 69_37n +1 known missense c.784 p.V262L 1.000 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,prints_MAPK_ERK3/4 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,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 83 0 0.00 95 18 15.93 - - - MON2 0 genome.wustl.edu 37 12 62965209 62965209 + Missense_Mutation SNP C C G TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 12 62965209 62965209 C G SNP MON2 ENST00000393630 human ensembl 69_37n +1 known missense c.4364 p.P1455R 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 126 0 0.00 72 50 40.65 - - - MOV10 0 genome.wustl.edu 37 1 113231673 113231673 + Missense_Mutation SNP T T G TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 1 113231673 113231673 T G SNP MOV10 ENST00000357443 human ensembl 69_37n +1 known missense c.254 p.V85G 0.004 NULL NULL - no_errors MOV10 HGNC ENSG00000155363 132 0 0.00 106 37 25.69 - - - MSR1 0 genome.wustl.edu 37 8 16035439 16035439 + Missense_Mutation SNP G G T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 8 16035439 16035439 G T SNP MSR1 ENST00000262101 human ensembl 69_37n -1 known missense c.59 p.S20Y 0.999 prints_Macro_scav_rcpt pfam_Srcr_rcpt,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors MSR1 HGNC ENSG00000038945 85 0 0.00 189 121 39.03 - - - NKX2-8 0 genome.wustl.edu 37 14 37051569 37051569 + Frame_Shift_Del DEL A A - TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 14 37051569 37051569 A - DEL NKX2-8 ENST00000258829 human ensembl 69_37n -1 known frame_shift_del c.26 p.F9fs 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-8 HGNC ENSG00000136327 33 0 0.00 9 2 18.18 - - - OFD1 0 genome.wustl.edu 37 X 13781897 13781897 + Missense_Mutation SNP G G T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c X 13781897 13781897 G T SNP OFD1 ENST00000340096 human ensembl 69_37n +1 known missense c.2522 p.G841V 0.002 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 138 0 0.00 133 22 14.19 - - - PIK3CA 0 genome.wustl.edu 37 3 178922325 178922325 + Missense_Mutation SNP A A T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 3 178922325 178922325 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1094 p.E365V 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 204 0 0.00 214 78 26.62 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 92 0 0.00 90 31 25.62 - - - PLLP 0 genome.wustl.edu 37 16 57290919 57290921 + In_Frame_Del DEL ATC ATC - TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 16 57290919 57290921 ATC - DEL PLLP ENST00000219207 human ensembl 69_37n -1 known in_frame_del c.455_453 p.M151in_frame_del 0.997:1.000:1.000 pfam_MARVEL-like_dom,prints_MAL pfam_MARVEL-like_dom,prints_MAL - no_errors PLLP HGNC ENSG00000102934 53 0 0.00 36 4 10.00 - - - PLXNA1 0 genome.wustl.edu 37 3 126730837 126730837 + Missense_Mutation SNP G G A TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 3 126730837 126730837 G A SNP PLXNA1 ENST00000393409 human ensembl 69_37n +1 known missense c.2149 p.V717M 0.998 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 44 0 0.00 24 9 27.27 - - - POLA2 0 genome.wustl.edu 37 11 65064614 65064614 + Silent SNP G G A TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 11 65064614 65064614 G A SNP POLA2 ENST00000265465 human ensembl 69_37n +1 known silent c.1671 p.V557 1.000 pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC ENSG00000014138 82 0 0.00 60 39 39.39 - - - PPIL4 0 genome.wustl.edu 37 6 149847870 149847870 + Missense_Mutation SNP C C T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 6 149847870 149847870 C T SNP PPIL4 ENST00000253329 human ensembl 69_37n -1 known missense c.721 p.V241I 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL4 HGNC ENSG00000131013 161 0 0.00 167 40 19.32 - - - PPM1F 0 genome.wustl.edu 37 22 22277563 22277563 + Missense_Mutation SNP C C T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 22 22277563 22277563 C T SNP PPM1F ENST00000263212 human ensembl 69_37n -1 known missense c.1267 p.G423R 0.000 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1F HGNC ENSG00000100034 21 0 0.00 13 12 48.00 - - - PRICKLE3 0 genome.wustl.edu 37 X 49040116 49040117 + Frame_Shift_Del DEL GT GT - TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c X 49040116 49040117 GT - DEL PRICKLE3 ENST00000536904 human ensembl 69_37n -1 known frame_shift_del c.179_178 p.T60fs 0.149:0.119 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 23 0 0.00 12 3 20.00 - - - RB1 0 genome.wustl.edu 37 13 48934189 48934189 + Nonsense_Mutation SNP C C A TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 13 48934189 48934189 C A SNP RB1 ENST00000267163 human ensembl 69_37n +1 known nonsense c.644 p.S215* 1.000 pfam_DUF3452_retinoblatoma-assoc pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 110 0 0.00 41 37 47.44 - - - RFX4 0 genome.wustl.edu 37 12 107080750 107080750 + Missense_Mutation SNP A A C TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 12 107080750 107080750 A C SNP RFX4 ENST00000357881 human ensembl 69_37n +1 known missense c.493 p.T165P 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 106 0 0.00 81 18 18.18 - - - RUNX1 0 genome.wustl.edu 37 21 36206776 36206777 + Frame_Shift_Ins INS - - G TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 21 36206776 36206777 - G INS RUNX1 ENST00000300305 human ensembl 69_37n -1 known frame_shift_ins c.736_735 p.T245fs 1.000:1.000 pirsf_TF_Runt-rel_RUNX pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 175 0 0.00 95 36 27.48 - - - SMG5 0 genome.wustl.edu 37 1 156237972 156237972 + Missense_Mutation SNP C C T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 1 156237972 156237972 C T SNP SMG5 ENST00000361813 human ensembl 69_37n -1 known missense c.842 p.C281Y 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC ENSG00000198952 190 1 0.52 214 160 42.78 - - - SYNPR 0 genome.wustl.edu 37 3 63594947 63594947 + Silent SNP C C T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 3 63594947 63594947 C T SNP SYNPR ENST00000478300 human ensembl 69_37n +1 known silent c.555 p.C185 1.000 pfam_MARVEL-like_dom pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYNPR HGNC ENSG00000163630 267 0 0.00 253 139 35.46 - - - TAS2R38 0 genome.wustl.edu 37 7 141673070 141673070 + Silent SNP G G T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 7 141673070 141673070 G T SNP TAS2R38 ENST00000547270 human ensembl 69_37n -1 known silent c.420 p.I140 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R38 HGNC ENSG00000257138 60 0 0.00 44 7 13.73 - - - TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.637 p.R213* 0.893 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 172 0 0.00 55 53 49.07 - - - USH2A 0 genome.wustl.edu 37 1 216219877 216219877 + Missense_Mutation SNP G G T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 1 216219877 216219877 G T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.6221 p.S2074Y 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 134 0 0.00 206 41 16.60 - - - ZNF224 0 genome.wustl.edu 37 19 44612139 44612139 + Missense_Mutation SNP C C T TCGA-BH-A202-01A-11D-A14K-09 TCGA-BH-A202-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6feb69a-8827-4d43-94aa-036cf5150549 4cdd2f93-e0d1-4420-bf4d-ba004cc0599c 19 44612139 44612139 C T SNP ZNF224 ENST00000336976 human ensembl 69_37n +1 known missense c.1826 p.S609L 0.000 smart_Znf_C2H2-like,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 ZNF224 HGNC ENSG00000267680 73 0 0.00 62 44 41.51 - - -