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 ACSBG2 0 genome.wustl.edu 37 19 6147661 6147661 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 19 6147661 6147661 G A SNP ACSBG2 ENST00000252669 human ensembl 69_37n +1 known missense c.272 p.R91Q 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 351 1 0.28 268 174 39.37 - - - AKD1 0 genome.wustl.edu 37 6 109815203 109815203 + Frame_Shift_Del DEL A A - TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 6 109815203 109815203 A - DEL AKD1 ENST00000424296 human ensembl 69_37n -1 known frame_shift_del c.5514 p.Y1838fs 0.078 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 128 0 0.00 223 36 13.74 - - - ANK2 0 genome.wustl.edu 37 4 114277716 114277716 + Missense_Mutation SNP G G C TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 4 114277716 114277716 G C SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.7942 p.G2648R 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 391 0 0.00 270 98 26.63 - - - ATG14 0 genome.wustl.edu 37 14 55836555 55836555 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 14 55836555 55836555 C T SNP ATG14 ENST00000247178 human ensembl 69_37n -1 known missense c.1261 p.D421N 1.000 NULL pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 208 0 0.00 168 148 46.84 - - - ATP11A 0 genome.wustl.edu 37 13 113516786 113516786 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 13 113516786 113516786 G A SNP ATP11A ENST00000375630 human ensembl 69_37n +1 known missense c.2888 p.R963H 0.998 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,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 ATP11A HGNC ENSG00000068650 15 0 0.00 10 10 50.00 - - - BTF3L4 0 genome.wustl.edu 37 1 52530605 52530605 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 1 52530605 52530605 G A SNP BTF3L4 ENST00000313334 human ensembl 69_37n +1 known missense c.163 p.E55K 1.000 pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors BTF3L4 HGNC ENSG00000134717 74 0 0.00 57 15 20.83 - - - C4orf51 0 genome.wustl.edu 37 4 146650349 146650350 + Frame_Shift_Ins INS - - T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 4 146650349 146650350 - T INS C4orf51 ENST00000438731 human ensembl 69_37n +1 known frame_shift_ins c.395_396 p.P134fs 0.000:0.002 NULL NULL - no_errors C4orf51 HGNC ENSG00000237136 74 0 0.00 44 12 21.43 - - - CADPS2 0 genome.wustl.edu 37 7 122269330 122269330 + Missense_Mutation SNP C C G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 7 122269330 122269330 C G SNP CADPS2 ENST00000449022 human ensembl 69_37n -1 known missense c.839 p.R280P 0.999 NULL pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 64 0 0.00 50 48 48.98 - - - CCDC33 0 genome.wustl.edu 37 15 74628287 74628287 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 15 74628287 74628287 G A SNP CCDC33 ENST00000398814 human ensembl 69_37n +1 known missense c.2161 p.D721N 0.091 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CCDC33 HGNC ENSG00000140481 96 0 0.00 10 45 81.82 - - - CDH9 0 genome.wustl.edu 37 5 26881732 26881732 + Missense_Mutation SNP A A T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 5 26881732 26881732 A T SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known missense c.1883 p.I628N 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 176 0 0.00 154 43 21.83 - - - CHSY3 0 genome.wustl.edu 37 5 129243939 129243939 + Missense_Mutation SNP G G T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 5 129243939 129243939 G T SNP CHSY3 ENST00000305031 human ensembl 69_37n +1 known missense c.972 p.R324S 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 40 0 0.00 22 12 35.29 - - - CLEC16A 0 genome.wustl.edu 37 16 11154764 11154764 + Silent SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 16 11154764 11154764 C T SNP CLEC16A ENST00000409790 human ensembl 69_37n +1 known silent c.2001 p.I667 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 210 0 0.00 105 91 46.19 - - - CLN3 0 genome.wustl.edu 37 16 28493476 28493476 + Missense_Mutation SNP A A G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 16 28493476 28493476 A G SNP CLN3 ENST00000359984 human ensembl 69_37n -1 known missense c.1006 p.S336P 1.000 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 18 0 0.00 10 13 56.52 - - - CRNN 0 genome.wustl.edu 37 1 152382287 152382287 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 1 152382287 152382287 C T SNP CRNN ENST00000271835 human ensembl 69_37n -1 known missense c.1271 p.R424H 0.001 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CRNN HGNC ENSG00000143536 201 0 0.00 232 99 29.91 - - - DAPK1 0 genome.wustl.edu 37 9 90256921 90256921 + Nonsense_Mutation SNP C C G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 9 90256921 90256921 C G SNP DAPK1 ENST00000469640 human ensembl 69_37n +1 known nonsense c.866 p.S289* 0.997 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 281 0 0.00 171 88 33.85 - - - DLGAP3 0 genome.wustl.edu 37 1 35332720 35332720 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 1 35332720 35332720 C T SNP DLGAP3 ENST00000235180 human ensembl 69_37n -1 known missense c.2650 p.E884K 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 50 0 0.00 20 17 45.95 - - - DNAH3 0 genome.wustl.edu 37 16 21156695 21156695 + Missense_Mutation SNP C C A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 16 21156695 21156695 C A SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.255 p.L85F 0.997 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 47 0 0.00 37 48 56.47 - - - DOT1L 0 genome.wustl.edu 37 19 2185865 2185865 + Missense_Mutation SNP A A G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 19 2185865 2185865 A G SNP DOT1L ENST00000398665 human ensembl 69_37n +1 known missense c.137 p.E46G 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 414 0 0.00 162 107 39.78 - - - DSG3 0 genome.wustl.edu 37 18 29054365 29054365 + Nonsense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 18 29054365 29054365 C T SNP DSG3 ENST00000257189 human ensembl 69_37n +1 known nonsense c.2383 p.Q795* 1.000 prints_Desmoglein pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 177 0 0.00 95 26 21.49 - - - DYNC2H1 0 genome.wustl.edu 37 11 103270428 103270429 + Frame_Shift_Ins INS - - CGAT TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 11 103270428 103270429 - CGAT INS DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known frame_shift_ins c.12215_12216 p.Q4075fs 0.961:0.957 pfam_Dynein_heavy 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 55 0 0.00 92 37 28.68 - - - ERBB2IP 0 genome.wustl.edu 37 5 65370887 65370887 + Silent SNP C C G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 5 65370887 65370887 C G SNP ERBB2IP ENST00000284037 human ensembl 69_37n +1 known silent c.3792 p.L1264 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 300 0 0.00 194 74 27.61 - - - ESAM 0 genome.wustl.edu 37 11 124628269 124628269 + Silent SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 11 124628269 124628269 G A SNP ESAM ENST00000278927 human ensembl 69_37n -1 known silent c.225 p.F75 0.065 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors ESAM HGNC ENSG00000149564 30 0 0.00 15 6 28.57 - - - ESD 0 genome.wustl.edu 37 13 47354111 47354112 + Frame_Shift_Ins INS - - T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 13 47354111 47354112 - T INS ESD ENST00000378720 human ensembl 69_37n -1 known frame_shift_ins c.559_558 p.A186fs 1.000:1.000 pfam_Esterase_put,pfam_Peptidase_S9,tigrfam_S-formylglutathione_hydrol pfam_Esterase_put,pfam_Peptidase_S9,pfam_AXE1,tigrfam_S-formylglutathione_hydrol - no_errors ESD HGNC ENSG00000139684 214 0 0.00 246 131 34.75 - - - FAM13B 0 genome.wustl.edu 37 5 137354686 137354686 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 5 137354686 137354686 G A SNP FAM13B ENST00000033079 human ensembl 69_37n -1 known missense c.115 p.P39S 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 113 0 0.00 64 79 55.24 - - - FBN3 0 genome.wustl.edu 37 19 8161889 8161890 + Frame_Shift_Ins INS - - G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 19 8161889 8161890 - G INS FBN3 ENST00000270509 human ensembl 69_37n -1 known frame_shift_ins c.5289_5288 p.V1764fs 1.000:1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 81 0 0.00 78 39 33.33 - - - FGFR2 0 genome.wustl.edu 37 10 123258034 123258034 + Missense_Mutation SNP A A T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 10 123258034 123258034 A T SNP FGFR2 ENST00000457416 human ensembl 69_37n -1 known missense c.1650 p.N550K 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt,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 pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 68 0 0.00 37 89 70.08 - - - FXR2 0 genome.wustl.edu 37 17 7495184 7495184 + Frame_Shift_Del DEL G G - TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 17 7495184 7495184 G - DEL FXR2 ENST00000250113 human ensembl 69_37n -1 known frame_shift_del c.1986 p.L663fs 0.977 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 37 0 0.00 18 2 10.00 - - - GBF1 0 genome.wustl.edu 37 10 104135342 104135342 + Splice_Site SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 10 104135342 104135342 G A SNP GBF1 ENST00000369983 human ensembl 69_37n +1 known splice_site c.3883+1 e29+1 1.000 - - - no_errors GBF1 HGNC ENSG00000107862 76 0 0.00 42 15 26.32 - - - GRIK3 0 genome.wustl.edu 37 1 37307537 37307537 + Nonsense_Mutation SNP C C A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 1 37307537 37307537 C A SNP GRIK3 ENST00000373091 human ensembl 69_37n -1 known nonsense c.1330 p.E444* 1.000 smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 47 0 0.00 33 26 44.07 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32552156 32552156 + Splice_Site SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 6 32552156 32552156 C T SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known splice_site c.101-1 e2-1 0.636 - - - no_errors HLA-DRB1 HGNC ENSG00000196126 12 0 0.00 9 4 30.77 - - - IGF2BP2 0 genome.wustl.edu 37 3 185367245 185367245 + Missense_Mutation SNP A A C TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 3 185367245 185367245 A C SNP IGF2BP2 ENST00000382199 human ensembl 69_37n -1 known missense c.1539 p.H513Q 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 48 0 0.00 53 40 42.55 - - - KLHL1 0 genome.wustl.edu 37 13 70681654 70681654 + Missense_Mutation SNP G G C TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 13 70681654 70681654 G C SNP KLHL1 ENST00000377844 human ensembl 69_37n -1 known missense c.178 p.Q60E 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 60 0 0.00 22 22 50.00 - - - KLK2 0 genome.wustl.edu 37 19 51379763 51379763 + Missense_Mutation SNP T T C TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 19 51379763 51379763 T C SNP KLK2 ENST00000325321 human ensembl 69_37n +1 known missense c.242 p.F81S 0.001 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK2 HGNC ENSG00000167751 71 0 0.00 51 27 34.18 - - - KRT2 0 genome.wustl.edu 37 12 53041976 53041976 + Missense_Mutation SNP T T A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 12 53041976 53041976 T A SNP KRT2 ENST00000309680 human ensembl 69_37n -1 known missense c.1103 p.E368V 0.940 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 191 0 0.00 111 64 36.16 - - - LILRA5 0 genome.wustl.edu 37 19 54818710 54818710 + Silent SNP T T C TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 19 54818710 54818710 T C SNP LILRA5 ENST00000301219 human ensembl 69_37n -1 known silent c.888 p.A296 0.002 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 106 0 0.00 97 35 26.52 - - - LIPE 0 genome.wustl.edu 37 19 42906899 42906899 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 19 42906899 42906899 C T SNP LIPE ENST00000244289 human ensembl 69_37n -1 known missense c.2827 p.E943K 0.000 NULL pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 21 0 0.00 13 4 23.53 - - - MPDZ 0 genome.wustl.edu 37 9 13175790 13175790 + Missense_Mutation SNP C C G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 9 13175790 13175790 C G SNP MPDZ ENST00000319217 human ensembl 69_37n -1 known missense c.3016 p.E1006Q 1.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 35 0 0.00 29 17 36.96 - - - MPDZ 0 genome.wustl.edu 37 9 13176329 13176329 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 9 13176329 13176329 C T SNP MPDZ ENST00000319217 human ensembl 69_37n -1 known missense c.2737 p.D913N 0.021 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 45 0 0.00 34 22 39.29 - - - MYT1 0 genome.wustl.edu 37 20 62871685 62871685 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 20 62871685 62871685 G A SNP MYT1 ENST00000536311 human ensembl 69_37n +1 known missense c.3331 p.E1111K 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 11 0 0.00 5 6 54.55 - - - NCK1 0 genome.wustl.edu 37 3 136667105 136667105 + Missense_Mutation SNP A A G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 3 136667105 136667105 A G SNP NCK1 ENST00000288986 human ensembl 69_37n +1 known missense c.944 p.N315S 1.000 pfam_SH2,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,prints_SH2 pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 225 0 0.00 181 133 42.36 - - - NXPE1 0 genome.wustl.edu 37 11 114393794 114393794 + Missense_Mutation SNP C C A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 11 114393794 114393794 C A SNP NXPE1 ENST00000424269 human ensembl 69_37n -1 known missense c.915 p.E305D 0.881 NULL superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 207 0 0.00 188 180 48.91 - - - OR52B2 0 genome.wustl.edu 37 11 6190763 6190763 + Missense_Mutation SNP T T G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 11 6190763 6190763 T G SNP OR52B2 ENST00000530810 human ensembl 69_37n -1 known missense c.794 p.H265P 0.013 pfam_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 OR52B2 HGNC ENSG00000255307 186 0 0.00 135 105 43.75 - - - PAPPA2 0 genome.wustl.edu 37 1 176738882 176738882 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 1 176738882 176738882 G A SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known missense c.4463 p.R1488H 1.000 superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 209 0 0.00 182 403 68.54 - - - PCDHA13 0 genome.wustl.edu 37 5 140262514 140262514 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 5 140262514 140262514 G A SNP PCDHA13 ENST00000289272 human ensembl 69_37n +1 known missense c.661 p.E221K 0.008 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 PCDHA13 HGNC ENSG00000239389 155 0 0.00 46 29 38.67 - - - PDE3A 0 genome.wustl.edu 37 12 20766493 20766493 + Silent SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 12 20766493 20766493 C T SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known silent c.1128 p.A376 0.083 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 154 0 0.00 173 39 18.40 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 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 119 0 0.00 86 83 49.11 - - - PRKCE 0 genome.wustl.edu 37 2 46411965 46411965 + Missense_Mutation SNP T T A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 2 46411965 46411965 T A SNP PRKCE ENST00000306156 human ensembl 69_37n +1 known missense c.2159 p.I720N 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 101 0 0.00 60 48 44.44 - - - PRKCE 0 genome.wustl.edu 37 2 46411966 46411966 + Silent SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 2 46411966 46411966 C T SNP PRKCE ENST00000306156 human ensembl 69_37n +1 known silent c.2160 p.I720 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 102 0 0.00 60 48 44.44 - - - PTENP1 0 genome.wustl.edu 37 9 33676575 33676575 + RNA SNP C C G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 9 33676575 33676575 C G SNP PTENP1 ENST00000532280 human ensembl 69_37n -1 known rna NULL NULL 0.814 - - - no_errors PTENP1 HGNC ENSG00000237984 161 0 0.00 71 62 46.62 - - - PTPN4 0 genome.wustl.edu 37 2 120718455 120718455 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 2 120718455 120718455 G A SNP PTPN4 ENST00000263708 human ensembl 69_37n +1 known missense c.2206 p.D736N 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN4 HGNC ENSG00000088179 252 0 0.00 185 125 40.32 - - - SALL1 0 genome.wustl.edu 37 16 51171179 51171179 + Silent SNP T T A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 16 51171179 51171179 T A SNP SALL1 ENST00000251020 human ensembl 69_37n -1 known silent c.3819 p.S1273 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 43 0 0.00 30 30 50.00 - - - SH3PXD2A 0 genome.wustl.edu 37 10 105484097 105484098 + Frame_Shift_Ins INS - - G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 10 105484097 105484098 - G INS SH3PXD2A ENST00000369774 human ensembl 69_37n -1 known frame_shift_ins c.329_328 p.H110fs 1.000:0.989 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 26 0 0.00 14 3 17.65 - - - SLC9A9 0 genome.wustl.edu 37 3 142985726 142985726 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 3 142985726 142985726 C T SNP SLC9A9 ENST00000316549 human ensembl 69_37n -1 known missense c.1756 p.E586K 0.967 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 103 0 0.00 83 20 19.42 - - - SPO11 0 genome.wustl.edu 37 20 55908329 55908329 + Missense_Mutation SNP T T C TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 20 55908329 55908329 T C SNP SPO11 ENST00000371263 human ensembl 69_37n +1 known missense c.331 p.F111L 0.995 pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11 pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC ENSG00000054796 83 0 0.00 62 53 46.09 - - - SSH1 0 genome.wustl.edu 37 12 109186215 109186215 + Silent SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 12 109186215 109186215 C T SNP SSH1 ENST00000326495 human ensembl 69_37n -1 known silent c.1740 p.R580 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 63 0 0.00 49 44 47.31 - - - SSX7 0 genome.wustl.edu 37 X 52677374 52677374 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 X 52677374 52677374 C T SNP SSX7 ENST00000298181 human ensembl 69_37n -1 known missense c.403 p.D135N 0.000 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ENSG00000187754 487 0 0.00 781 92 10.54 - - - TBX3 0 genome.wustl.edu 37 12 115120672 115120672 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 12 115120672 115120672 G A SNP TBX3 ENST00000257566 human ensembl 69_37n -1 known missense c.334 p.L112F 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 49 0 0.00 21 32 60.38 - - - TCF20 0 genome.wustl.edu 37 22 42607000 42607000 + Missense_Mutation SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 22 42607000 42607000 G A SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known missense c.4312 p.R1438C 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 393 0 0.00 214 70 24.65 - - - TCOF1 0 genome.wustl.edu 37 5 149777996 149777996 + Silent SNP G G A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 5 149777996 149777996 G A SNP TCOF1 ENST00000451292 human ensembl 69_37n +1 known silent c.4533 p.Q1511 0.998 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 152 0 0.00 40 73 64.60 - - - TECRL 0 genome.wustl.edu 37 4 65180391 65180391 + Nonsense_Mutation SNP T T A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 4 65180391 65180391 T A SNP TECRL ENST00000381210 human ensembl 69_37n -1 known nonsense c.526 p.R176* 0.030 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 29 0 0.00 43 7 14.00 - - - TESK1 0 genome.wustl.edu 37 9 35609609 35609610 + Frame_Shift_Ins INS - - C TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 9 35609609 35609610 - C INS TESK1 ENST00000336395 human ensembl 69_37n +1 known frame_shift_ins c.1751_1752 p.R586fs 1.000:1.000 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 25 0 0.00 22 3 12.00 - - - UGT1A7 0 genome.wustl.edu 37 2 234591216 234591216 + Nonsense_Mutation SNP C C G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 2 234591216 234591216 C G SNP UGT1A7 ENST00000485022 human ensembl 69_37n +1 putative nonsense c.203 p.S68* 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UGT1A7 HGNC ENSG00000244122 965 0 0.00 953 203 17.56 - - - XRN2 0 genome.wustl.edu 37 20 21314348 21314348 + Nonsense_Mutation SNP G G T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 20 21314348 21314348 G T SNP XRN2 ENST00000377191 human ensembl 69_37n +1 known nonsense c.940 p.E314* 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 242 0 0.00 214 170 44.27 - - - YAF2 0 genome.wustl.edu 37 12 42554570 42554570 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 12 42554570 42554570 C T SNP YAF2 ENST00000442791 human ensembl 69_37n -1 known missense c.436 p.D146N 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC ENSG00000015153 87 0 0.00 70 28 28.57 - - - ZFP36L1 0 genome.wustl.edu 37 14 69256881 69256881 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 14 69256881 69256881 C T SNP ZFP36L1 ENST00000336440 human ensembl 69_37n -1 known missense c.386 p.C129Y 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 84 0 0.00 63 37 37.00 - - - ZNF99 0 genome.wustl.edu 37 19 22941252 22941252 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 19 22941252 22941252 C T SNP ZNF99 ENST00000397104 human ensembl 69_37n -1 known missense c.1186 p.G396S 0.964 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 ZNF99 HGNC ENSG00000213973 309 0 0.00 386 177 31.44 - - - ZXDA 0 genome.wustl.edu 37 X 57935843 57935843 + Missense_Mutation SNP C C A TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6f6f7048-5b7a-4827-af2b-cfecc4a60025 23dc2b83-850f-4ae8-9e10-d7263ef23617 X 57935843 57935843 C A SNP ZXDA ENST00000358697 human ensembl 69_37n -1 known missense c.1012 p.G338C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 26 0 0.00 28 11 28.21 - - -