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 ANGPT4 0 genome.wustl.edu 37 20 853640 853640 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 20 853640 853640 C T SNP ANGPT4 ENST00000381922 human ensembl 69_37n -1 known missense c.1475 p.R492H 0.840 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ENSG00000101280 92 0 0.00 70 23 24.73 - - - ANO4 0 genome.wustl.edu 37 12 101188653 101188653 + RNA SNP G G T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 12 101188653 101188653 G T SNP ANO4 ENST00000551148 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors ANO4 HGNC ENSG00000151572 21 0 0.00 20 9 31.03 - - - APBB3 0 genome.wustl.edu 37 5 139938256 139938256 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 5 139938256 139938256 C T SNP APBB3 ENST00000356738 human ensembl 69_37n -1 known missense c.1390 p.G464S 0.989 NULL pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB3 HGNC ENSG00000113108 26 0 0.00 26 7 21.21 - - - ASXL1 0 genome.wustl.edu 37 20 31021321 31021321 + Silent SNP A A G TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 20 31021321 31021321 A G SNP ASXL1 ENST00000375687 human ensembl 69_37n +1 known silent c.1320 p.K440 0.210 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 21 0 0.00 22 5 18.52 - - - AVPR1B 0 genome.wustl.edu 37 1 206231084 206231084 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 1 206231084 206231084 C T SNP AVPR1B ENST00000367126 human ensembl 69_37n +1 known missense c.1217 p.S406L 0.001 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC ENSG00000198049 45 0 0.00 51 6 10.53 - - - B3GALT2 0 genome.wustl.edu 37 1 193150064 193150064 + Missense_Mutation SNP C C G TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 1 193150064 193150064 C G SNP B3GALT2 ENST00000367434 human ensembl 69_37n -1 known missense c.629 p.R210T 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 28 0 0.00 27 5 15.62 - - - CLUL1 0 genome.wustl.edu 37 18 627251 627251 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 18 627251 627251 C T SNP CLUL1 ENST00000338387 human ensembl 69_37n +1 known missense c.578 p.S193F 0.009 pfam_Clusterin-like,smart_Clusterin_N pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 81 0 0.00 37 28 43.08 - - - DNAH2 0 genome.wustl.edu 37 17 7736205 7736205 + Missense_Mutation SNP G G A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 17 7736205 7736205 G A SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known missense c.12937 p.V4313I 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 68 0 0.00 44 11 20.00 - - - DPP10 0 genome.wustl.edu 37 2 116535382 116535382 + Missense_Mutation SNP T T A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 2 116535382 116535382 T A SNP DPP10 ENST00000393147 human ensembl 69_37n +1 known missense c.1345 p.S449T 0.005 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 43 0 0.00 32 19 37.25 - - - DUSP10 0 genome.wustl.edu 37 1 221913041 221913041 + Silent SNP T T G TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 1 221913041 221913041 T G SNP DUSP10 ENST00000366899 human ensembl 69_37n -1 known silent c.46 p.R16 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 35 0 0.00 35 7 16.67 - - - DYRK4 0 genome.wustl.edu 37 12 4702196 4702196 + Silent SNP G G T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 12 4702196 4702196 G T SNP DYRK4 ENST00000010132 human ensembl 69_37n +1 known silent c.147 p.L49 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,pfscan_Prot_kinase_cat_dom - no_errors DYRK4 HGNC ENSG00000010219 27 0 0.00 33 14 29.79 - - - ERBB2 0 genome.wustl.edu 37 17 37881000 37881000 + Missense_Mutation SNP G G T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 17 37881000 37881000 G T SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.2329 p.V777L 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_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_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,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 ERBB2 HGNC ENSG00000141736 67 0 0.00 26 35 57.38 - - - G3BP2 0 genome.wustl.edu 37 4 76582746 76582746 + Missense_Mutation SNP G G A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 4 76582746 76582746 G A SNP G3BP2 ENST00000359707 human ensembl 69_37n -1 known missense c.346 p.P116S 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 20 0 0.00 16 7 30.43 - - - H6PD 0 genome.wustl.edu 37 1 9323595 9323595 + Missense_Mutation SNP G G T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 1 9323595 9323595 G T SNP H6PD ENST00000377403 human ensembl 69_37n +1 known missense c.1043 p.R348L 1.000 pfam_G6P_DH_C,prints_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 63 0 0.00 48 19 28.36 - - - HECTD4 0 genome.wustl.edu 37 12 112703012 112703012 + Silent SNP T T C TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 12 112703012 112703012 T C SNP HECTD4 ENST00000377560 human ensembl 69_37n -1 known silent c.2040 p.K680 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 48 0 0.00 46 13 22.03 - - - HNRNPC 0 genome.wustl.edu 37 14 21679501 21679501 + Missense_Mutation SNP G G C TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 14 21679501 21679501 G C SNP HNRNPC ENST00000336053 human ensembl 69_37n -1 putative missense c.862 p.L288V 0.998 pirsf_hnRNP_C_Raly pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPC HGNC ENSG00000092199 91 0 0.00 70 23 24.73 - - - HNRNPC 0 genome.wustl.edu 37 14 21681136 21681136 + Missense_Mutation SNP G G T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 14 21681136 21681136 G T SNP HNRNPC ENST00000320084 human ensembl 69_37n -1 known missense c.545 p.S182Y 1.000 superfamily_Regulat_G_prot_signal_superfam,pirsf_hnRNP_C_Raly pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPC HGNC ENSG00000092199 43 0 0.00 42 12 22.22 - - - KDM4A 0 genome.wustl.edu 37 1 44169764 44169764 + Missense_Mutation SNP A A G TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 1 44169764 44169764 A G SNP KDM4A ENST00000372396 human ensembl 69_37n +1 known missense c.3035 p.K1012R 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 97 0 0.00 83 13 13.54 - - - MAN2A2 0 genome.wustl.edu 37 15 91461569 91461569 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 15 91461569 91461569 C T SNP MAN2A2 ENST00000360468 human ensembl 69_37n +1 known missense c.3140 p.S1047L 0.016 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 53 0 0.00 49 9 15.52 - - - MCM6 0 genome.wustl.edu 37 2 136622668 136622669 + Frame_Shift_Del DEL CA CA - TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 2 136622668 136622669 CA - DEL MCM6 ENST00000264156 human ensembl 69_37n -1 known frame_shift_del c.993_992 p.V331fs 1.000:1.000 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 74 0 0.00 63 15 18.75 - - - MMP15 0 genome.wustl.edu 37 16 58074508 58074508 + Missense_Mutation SNP C C A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 16 58074508 58074508 C A SNP MMP15 ENST00000219271 human ensembl 69_37n +1 known missense c.816 p.N272K 1.000 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP15 HGNC ENSG00000102996 67 0 0.00 29 22 43.14 - - - MON1B 0 genome.wustl.edu 37 16 77232125 77232125 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 16 77232125 77232125 C T SNP MON1B ENST00000248248 human ensembl 69_37n +1 known missense c.1564 p.R522C 1.000 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 52 0 0.00 23 17 42.50 - - - MPPED2 0 genome.wustl.edu 37 11 30557579 30557579 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 11 30557579 30557579 C T SNP MPPED2 ENST00000358117 human ensembl 69_37n -1 known missense c.272 p.G91E 1.000 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 55 0 0.00 43 6 12.24 - - - NEB 0 genome.wustl.edu 37 2 152421652 152421652 + Missense_Mutation SNP T T C TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 2 152421652 152421652 T C SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.18377 p.K6126R 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 46 0 0.00 46 12 20.69 - - - NR2F1 0 genome.wustl.edu 37 5 92929603 92929603 + RNA SNP G G A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 5 92929603 92929603 G A SNP NR2F1 ENST00000506162 human ensembl 69_37n +1 putative rna NULL NULL 0.020 - - - no_errors NR2F1 HGNC ENSG00000175745 39 0 0.00 24 11 31.43 - - - PALB2 0 genome.wustl.edu 37 16 23647265 23647265 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 16 23647265 23647265 C T SNP PALB2 ENST00000261584 human ensembl 69_37n -1 known missense c.602 p.S201N 0.004 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 46 0 0.00 42 17 28.81 - - - PCDHA9 0 genome.wustl.edu 37 5 140229249 140229249 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 5 140229249 140229249 C T SNP PCDHA9 ENST00000532602 human ensembl 69_37n +1 known missense c.1169 p.T390M 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 120 0 0.00 69 36 34.29 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1035 p.N345K 1.000 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 26 0 0.00 36 10 21.74 - - - PLEKHH1 0 genome.wustl.edu 37 14 68038563 68038565 + In_Frame_Del DEL CCT CCT - TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 14 68038563 68038565 CCT - DEL PLEKHH1 ENST00000329153 human ensembl 69_37n +1 known in_frame_del c.1529_1531 p.S512in_frame_del 0.977:0.983:0.992 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 40 0 0.00 28 6 17.65 - - - PRIM2 0 genome.wustl.edu 37 6 57512788 57512789 + RNA INS - - TA TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 6 57512788 57512789 - TA INS PRIM2 ENST00000389488 human ensembl 69_37n +1 known rna NULL NULL 0.034:0.053 - - - no_errors PRIM2 HGNC ENSG00000146143 11 0 0.00 11 7 38.89 - - - RYR1 0 genome.wustl.edu 37 19 39018355 39018355 + Silent SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 19 39018355 39018355 C T SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known silent c.10755 p.D3585 0.700 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 79 0 0.00 46 15 24.19 - - - SH2D4B 0 genome.wustl.edu 37 10 82394052 82394052 + Nonsense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 10 82394052 82394052 C T SNP SH2D4B ENST00000470604 human ensembl 69_37n +1 known nonsense c.994 p.R332* 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D4B HGNC ENSG00000178217 31 0 0.00 35 13 27.08 - - - SKI 0 genome.wustl.edu 37 1 2160849 2160849 + Missense_Mutation SNP A A T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 1 2160849 2160849 A T SNP SKI ENST00000378536 human ensembl 69_37n +1 known missense c.644 p.E215V 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 31 0 0.00 30 8 21.05 - - - SLC25A1 0 genome.wustl.edu 37 22 19163984 19163984 + Silent SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 22 19163984 19163984 C T SNP SLC25A1 ENST00000215882 human ensembl 69_37n -1 known silent c.771 p.R257 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A1 HGNC ENSG00000100075 30 0 0.00 22 11 33.33 - - - SULT1A2 0 genome.wustl.edu 37 16 28603420 28603421 + Frame_Shift_Del DEL TC TC - TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 16 28603420 28603421 TC - DEL SULT1A2 ENST00000335715 human ensembl 69_37n -1 known frame_shift_del c.817_816 p.N273fs 1.000:1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1A2 HGNC ENSG00000197165 88 0 0.00 63 9 12.50 - - - TCTN1 0 genome.wustl.edu 37 12 111082851 111082851 + Missense_Mutation SNP G G A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 12 111082851 111082851 G A SNP TCTN1 ENST00000397659 human ensembl 69_37n +1 known missense c.1411 p.V471M 1.000 NULL pfam_DUF1619 - no_errors TCTN1 HGNC ENSG00000204852 58 0 0.00 33 11 25.00 - - - TP53 0 genome.wustl.edu 37 17 7577557 7577557 + Missense_Mutation SNP A A C TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 17 7577557 7577557 A C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.724 p.C242G 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 77 0 0.00 33 15 31.25 - - - TRDN 0 genome.wustl.edu 37 6 123539855 123539855 + Missense_Mutation SNP A A G TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 6 123539855 123539855 A G SNP TRDN ENST00000398178 human ensembl 69_37n -1 known missense c.2081 p.L694S 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 35 0 0.00 45 12 21.05 - - - TRIM58 0 genome.wustl.edu 37 1 248039236 248039236 + Silent SNP G G A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 1 248039236 248039236 G A SNP TRIM58 ENST00000366481 human ensembl 69_37n +1 known silent c.906 p.P302 0.001 superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 49 0 0.00 31 11 26.19 - - - TTN 0 genome.wustl.edu 37 2 179640347 179640347 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 2 179640347 179640347 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.6244 p.E2082K 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 15 0 0.00 20 5 20.00 - - - UBE2Q1 0 genome.wustl.edu 37 1 154524283 154524283 + Silent SNP G G A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 1 154524283 154524283 G A SNP UBE2Q1 ENST00000292211 human ensembl 69_37n -1 known silent c.1038 p.G346 0.544 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 22 0 0.00 29 10 25.64 - - - XIRP1 0 genome.wustl.edu 37 3 39228770 39228770 + Missense_Mutation SNP C C T TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 3 39228770 39228770 C T SNP XIRP1 ENST00000340369 human ensembl 69_37n -1 known missense c.2167 p.G723S 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 26 0 0.00 49 6 10.91 - - - ZFP36L1 0 genome.wustl.edu 37 14 69259696 69259696 + Missense_Mutation SNP T T A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9db3047-65be-437a-907b-d2d56873fb56 ccc9d7d3-f529-4d1f-82a5-fba4076cc831 14 69259696 69259696 T A SNP ZFP36L1 ENST00000553375 human ensembl 69_37n -1 putative missense c.167 p.D56V 0.004 NULL pfam_Tis11B_N - no_stop_codon:bad_bp_length_for_coding_region ZFP36L1 HGNC ENSG00000185650 91 0 0.00 68 21 23.60 - - -