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 ALOX12B 0 genome.wustl.edu 37 17 7989371 7989371 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 17 7989371 7989371 C T SNP ALOX12B ENST00000319144 human ensembl 69_37n -1 known missense c.315 p.M105I 0.947 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 66 0 0.00 89 67 42.95 - - - ALOX12B 0 genome.wustl.edu 37 17 7989371 7989371 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 17 7989371 7989371 C T SNP ALOX12B ENST00000319144 human ensembl 69_37n -1 known missense c.315 p.M105I 0.947 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 115 0 0.00 89 67 42.95 - - - AMICA1 0 genome.wustl.edu 37 11 118081378 118081378 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 11 118081378 118081378 C T SNP AMICA1 ENST00000356289 human ensembl 69_37n -1 known missense c.248 p.R83H 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors AMICA1 HGNC ENSG00000160593 138 0 0.00 13 76 85.39 - - - AMICA1 0 genome.wustl.edu 37 11 118081378 118081378 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 11 118081378 118081378 C T SNP AMICA1 ENST00000356289 human ensembl 69_37n -1 known missense c.248 p.R83H 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors AMICA1 HGNC ENSG00000160593 180 0 0.00 13 76 85.39 - - - AP5B1 0 genome.wustl.edu 37 11 65546129 65546129 + Missense_Mutation SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 11 65546129 65546129 G A SNP AP5B1 ENST00000532090 human ensembl 69_37n -1 novel missense c.1835 p.A612V 1.000 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 12 0 0.00 7 4 36.36 - - - ATAD2B 0 genome.wustl.edu 37 2 24118722 24118722 + Missense_Mutation SNP C C A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 2 24118722 24118722 C A SNP ATAD2B ENST00000238789 human ensembl 69_37n -1 known missense c.335 p.R112L 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 308 1 0.32 208 136 39.53 - - - ATF5 0 genome.wustl.edu 37 19 50436338 50436338 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 19 50436338 50436338 C T SNP ATF5 ENST00000423777 human ensembl 69_37n +1 known missense c.838 p.R280C 0.002 NULL pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP - no_errors ATF5 HGNC ENSG00000169136 13 0 0.00 15 22 59.46 - - - ATF5 0 genome.wustl.edu 37 19 50436338 50436338 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 19 50436338 50436338 C T SNP ATF5 ENST00000423777 human ensembl 69_37n +1 known missense c.838 p.R280C 0.002 NULL pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP - no_errors ATF5 HGNC ENSG00000169136 30 0 0.00 15 22 59.46 - - - AZGP1 0 genome.wustl.edu 37 7 99573626 99573626 + Silent SNP A A G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 7 99573626 99573626 A G SNP AZGP1 ENST00000292401 human ensembl 69_37n -1 known silent c.18 p.P6 0.646 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors AZGP1 HGNC ENSG00000160862 173 0 0.00 147 129 46.74 - - - AZGP1 0 genome.wustl.edu 37 7 99573626 99573626 + Silent SNP A A G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 7 99573626 99573626 A G SNP AZGP1 ENST00000292401 human ensembl 69_37n -1 known silent c.18 p.P6 0.646 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors AZGP1 HGNC ENSG00000160862 309 0 0.00 147 129 46.74 - - - CCNB1 0 genome.wustl.edu 37 5 68470891 68470891 + Missense_Mutation SNP G G T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 5 68470891 68470891 G T SNP CCNB1 ENST00000256442 human ensembl 69_37n +1 known missense c.893 p.G298V 0.999 superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNB1 HGNC ENSG00000134057 230 2 0.86 84 81 49.09 - - - CCNB1 0 genome.wustl.edu 37 5 68470891 68470891 + Missense_Mutation SNP G G T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 5 68470891 68470891 G T SNP CCNB1 ENST00000256442 human ensembl 69_37n +1 known missense c.893 p.G298V 0.999 superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNB1 HGNC ENSG00000134057 162 0 0.00 84 81 49.09 - - - CDC42BPG 0 genome.wustl.edu 37 11 64600178 64600178 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 11 64600178 64600178 C T SNP CDC42BPG ENST00000342711 human ensembl 69_37n -1 known missense c.2903 p.R968H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 57 0 0.00 23 19 45.24 - - - CDH9 0 genome.wustl.edu 37 5 26906161 26906161 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 5 26906161 26906161 C T SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known missense c.718 p.D240N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 613 1 0.16 286 203 41.51 - - - CDH9 0 genome.wustl.edu 37 5 26906161 26906161 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 5 26906161 26906161 C T SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known missense c.718 p.D240N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 520 0 0.00 286 203 41.51 - - - COL4A1 0 genome.wustl.edu 37 13 110850853 110850853 + Missense_Mutation SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 13 110850853 110850853 G A SNP COL4A1 ENST00000375820 human ensembl 69_37n -1 known missense c.1246 p.P416S 0.913 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 24 0 0.00 20 8 28.57 - - - COL4A1 0 genome.wustl.edu 37 13 110850853 110850853 + Missense_Mutation SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 13 110850853 110850853 G A SNP COL4A1 ENST00000375820 human ensembl 69_37n -1 known missense c.1246 p.P416S 0.913 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 35 0 0.00 20 8 28.57 - - - CRTAP 0 genome.wustl.edu 37 3 33175699 33175699 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 3 33175699 33175699 C T SNP CRTAP ENST00000320954 human ensembl 69_37n +1 known missense c.1094 p.T365I 1.000 NULL NULL - no_errors CRTAP HGNC ENSG00000170275 425 3 0.70 236 183 43.68 - - - CRTAP 0 genome.wustl.edu 37 3 33175699 33175699 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 3 33175699 33175699 C T SNP CRTAP ENST00000320954 human ensembl 69_37n +1 known missense c.1094 p.T365I 1.000 NULL NULL - no_errors CRTAP HGNC ENSG00000170275 389 0 0.00 236 183 43.68 - - - CSMD2 0 genome.wustl.edu 37 1 34191137 34191137 + Missense_Mutation SNP T T G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 1 34191137 34191137 T G SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.2508 p.R836S 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 173 0 0.00 69 67 49.26 - - - CSMD2 0 genome.wustl.edu 37 1 34191137 34191137 + Missense_Mutation SNP T T G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 1 34191137 34191137 T G SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.2508 p.R836S 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 130 0 0.00 69 67 49.26 - - - CTIF 0 genome.wustl.edu 37 18 46284669 46284669 + Missense_Mutation SNP G G C TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 18 46284669 46284669 G C SNP CTIF ENST00000382998 human ensembl 69_37n +1 known missense c.964 p.E322Q 0.660 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 15 0 0.00 9 10 52.63 - - - CTIF 0 genome.wustl.edu 37 18 46284669 46284669 + Missense_Mutation SNP G G C TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 18 46284669 46284669 G C SNP CTIF ENST00000382998 human ensembl 69_37n +1 known missense c.964 p.E322Q 0.660 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 31 0 0.00 9 10 52.63 - - - CTNNAL1 0 genome.wustl.edu 37 9 111735100 111735100 + Missense_Mutation SNP G G T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 9 111735100 111735100 G T SNP CTNNAL1 ENST00000325551 human ensembl 69_37n -1 known missense c.1202 p.A401E 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 84 0 0.00 50 29 36.25 - - - CTNNAL1 0 genome.wustl.edu 37 9 111735100 111735100 + Missense_Mutation SNP G G T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 9 111735100 111735100 G T SNP CTNNAL1 ENST00000325551 human ensembl 69_37n -1 known missense c.1202 p.A401E 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 81 0 0.00 50 29 36.25 - - - DNAH5 0 genome.wustl.edu 37 5 13759060 13759060 + Silent SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 5 13759060 13759060 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known silent c.10314 p.L3438 0.005 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 95 0 0.00 93 99 51.56 - - - DNAH5 0 genome.wustl.edu 37 5 13759060 13759060 + Silent SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 5 13759060 13759060 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known silent c.10314 p.L3438 0.005 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 184 0 0.00 93 99 51.56 - - - DOT1L 0 genome.wustl.edu 37 19 2213589 2213589 + Missense_Mutation SNP C C G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 19 2213589 2213589 C G SNP DOT1L ENST00000398665 human ensembl 69_37n +1 known missense c.1609 p.Q537E 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 113 0 0.00 108 97 47.32 - - - DOT1L 0 genome.wustl.edu 37 19 2213589 2213589 + Missense_Mutation SNP C C G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 19 2213589 2213589 C G SNP DOT1L ENST00000398665 human ensembl 69_37n +1 known missense c.1609 p.Q537E 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 167 1 0.60 108 97 47.32 - - - DSCAM 0 genome.wustl.edu 37 21 41719610 41719610 + Silent SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 21 41719610 41719610 C T SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known silent c.1197 p.Q399 0.996 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 176 1 0.56 134 115 46.18 - - - DSCAM 0 genome.wustl.edu 37 21 41719610 41719610 + Silent SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 21 41719610 41719610 C T SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known silent c.1197 p.Q399 0.996 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 228 0 0.00 134 115 46.18 - - - EIF3H 0 genome.wustl.edu 37 8 117671073 117671073 + Nonsense_Mutation SNP C C A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 8 117671073 117671073 C A SNP EIF3H ENST00000521861 human ensembl 69_37n -1 known nonsense c.436 p.E146* 1.000 smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors EIF3H HGNC ENSG00000147677 162 1 0.61 76 71 48.30 - - - EIF3H 0 genome.wustl.edu 37 8 117671073 117671073 + Nonsense_Mutation SNP C C A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 8 117671073 117671073 C A SNP EIF3H ENST00000521861 human ensembl 69_37n -1 known nonsense c.436 p.E146* 1.000 smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors EIF3H HGNC ENSG00000147677 125 1 0.79 76 71 48.30 - - - ELAC2 0 genome.wustl.edu 37 17 12913975 12913975 + Missense_Mutation SNP T T C TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 17 12913975 12913975 T C SNP ELAC2 ENST00000446899 human ensembl 69_37n -1 putative missense c.22 p.K8E 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon ELAC2 HGNC ENSG00000006744 127 0 0.00 81 56 40.88 - - - FGFR2 0 genome.wustl.edu 37 10 123258034 123258034 + Missense_Mutation SNP A A T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 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 456 0 0.00 226 177 43.92 - - - FGFR2 0 genome.wustl.edu 37 10 123258034 123258034 + Missense_Mutation SNP A A T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 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 463 0 0.00 226 177 43.92 - - - FN1 0 genome.wustl.edu 37 2 216288147 216288147 + Missense_Mutation SNP C C A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 2 216288147 216288147 C A SNP FN1 ENST00000354785 human ensembl 69_37n -1 known missense c.1319 p.R440I 0.999 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 261 0 0.00 154 143 48.15 - - - GCN1L1 0 genome.wustl.edu 37 12 120602272 120602272 + Silent SNP C C A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 12 120602272 120602272 C A SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known silent c.1716 p.V572 0.963 pfam_DUF3554,superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 38 0 0.00 23 22 48.89 - - - GCN1L1 0 genome.wustl.edu 37 12 120602272 120602272 + Silent SNP C C A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 12 120602272 120602272 C A SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known silent c.1716 p.V572 0.963 pfam_DUF3554,superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 56 0 0.00 23 22 48.89 - - - GNAS 0 genome.wustl.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 20 57484421 57484421 G A SNP GNAS ENST00000354359 human ensembl 69_37n +1 known missense c.605 p.R202H 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 150 0 0.00 93 86 48.04 - - - GNAS 0 genome.wustl.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 20 57484421 57484421 G A SNP GNAS ENST00000354359 human ensembl 69_37n +1 known missense c.605 p.R202H 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 156 0 0.00 93 86 48.04 - - - HRNR 0 genome.wustl.edu 37 1 152193787 152193787 + Missense_Mutation SNP G G C TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 1 152193787 152193787 G C SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.318 p.H106Q 0.067 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 642 0 0.00 551 183 24.90 - - - HRNR 0 genome.wustl.edu 37 1 152193787 152193787 + Missense_Mutation SNP G G C TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 1 152193787 152193787 G C SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.318 p.H106Q 0.067 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 552 0 0.00 551 183 24.90 - - - IPO13 0 genome.wustl.edu 37 1 44426575 44426575 + Missense_Mutation SNP G G T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 1 44426575 44426575 G T SNP IPO13 ENST00000372343 human ensembl 69_37n +1 known missense c.2137 p.V713F 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 89 0 0.00 71 56 44.09 - - - IPO13 0 genome.wustl.edu 37 1 44426575 44426575 + Missense_Mutation SNP G G T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 1 44426575 44426575 G T SNP IPO13 ENST00000372343 human ensembl 69_37n +1 known missense c.2137 p.V713F 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 121 0 0.00 71 56 44.09 - - - KDR 0 genome.wustl.edu 37 4 55955083 55955083 + Silent SNP T T A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 4 55955083 55955083 T A SNP KDR ENST00000263923 human ensembl 69_37n -1 known silent c.3462 p.S1154 0.995 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,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_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC ENSG00000128052 236 0 0.00 185 38 17.04 - - - KDR 0 genome.wustl.edu 37 4 55955083 55955083 + Silent SNP T T A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 4 55955083 55955083 T A SNP KDR ENST00000263923 human ensembl 69_37n -1 known silent c.3462 p.S1154 0.995 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,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_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC ENSG00000128052 237 0 0.00 185 38 17.04 - - - KLRC2 0 genome.wustl.edu 37 12 10586464 10586466 + In_Frame_Del DEL TTC TTC - TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 12 10586464 10586466 TTC - DEL KLRC2 ENST00000381901 human ensembl 69_37n -1 known in_frame_del c.409_407 p.R136in_frame_del 0.001:0.009:0.008 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC2 HGNC ENSG00000205809 600 0 0.00 198 119 37.19 - - - KLRC2 0 genome.wustl.edu 37 12 10586464 10586466 + In_Frame_Del DEL TTC TTC - TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 12 10586464 10586466 TTC - DEL KLRC2 ENST00000381901 human ensembl 69_37n -1 known in_frame_del c.409_407 p.R136in_frame_del 0.001:0.009:0.008 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC2 HGNC ENSG00000205809 472 0 0.00 198 119 37.19 - - - KRT82 0 genome.wustl.edu 37 12 52797575 52797575 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 12 52797575 52797575 C T SNP KRT82 ENST00000257974 human ensembl 69_37n -1 known missense c.530 p.R177Q 1.000 pfam_F pfam_F,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 21 0 0.00 19 13 40.62 - - - KRT82 0 genome.wustl.edu 37 12 52797575 52797575 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 12 52797575 52797575 C T SNP KRT82 ENST00000257974 human ensembl 69_37n -1 known missense c.530 p.R177Q 1.000 pfam_F pfam_F,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 37 0 0.00 19 13 40.62 - - - L3MBTL3 0 genome.wustl.edu 37 6 130407393 130407393 + Missense_Mutation SNP A A G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 6 130407393 130407393 A G SNP L3MBTL3 ENST00000361794 human ensembl 69_37n +1 known missense c.1516 p.K506E 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 284 0 0.00 136 98 41.70 - - - MAGI1 0 genome.wustl.edu 37 3 65346921 65346921 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 3 65346921 65346921 C T SNP MAGI1 ENST00000402939 human ensembl 69_37n -1 known missense c.3587 p.R1196K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 271 1 0.37 126 129 50.59 - - - MAGI1 0 genome.wustl.edu 37 3 65346921 65346921 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 3 65346921 65346921 C T SNP MAGI1 ENST00000402939 human ensembl 69_37n -1 known missense c.3587 p.R1196K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 277 0 0.00 126 129 50.59 - - - MAZ 0 genome.wustl.edu 37 16 29821425 29821425 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 16 29821425 29821425 C T SNP MAZ ENST00000322945 human ensembl 69_37n +1 known missense c.1307 p.A436V 0.930 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 9 0 0.00 19 46 58.97 - - - MAZ 0 genome.wustl.edu 37 16 29821425 29821425 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 16 29821425 29821425 C T SNP MAZ ENST00000322945 human ensembl 69_37n +1 known missense c.1307 p.A436V 0.930 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 23 0 0.00 19 46 58.97 - - - MBD1 0 genome.wustl.edu 37 18 47802228 47802228 + Missense_Mutation SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 18 47802228 47802228 G A SNP MBD1 ENST00000424334 human ensembl 69_37n -1 known missense c.718 p.R240C 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 100 0 0.00 104 58 35.80 - - - MBD1 0 genome.wustl.edu 37 18 47802228 47802228 + Missense_Mutation SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 18 47802228 47802228 G A SNP MBD1 ENST00000424334 human ensembl 69_37n -1 known missense c.718 p.R240C 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 184 0 0.00 104 58 35.80 - - - MLIP 0 genome.wustl.edu 37 6 53883886 53883886 + Silent SNP G G T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 6 53883886 53883886 G T SNP MLIP ENST00000274897 human ensembl 69_37n +1 known silent c.60 p.L20 0.793 NULL NULL - no_errors MLIP HGNC ENSG00000146147 320 2 0.62 90 63 41.18 - - - MLIP 0 genome.wustl.edu 37 6 53883886 53883886 + Silent SNP G G T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 6 53883886 53883886 G T SNP MLIP ENST00000274897 human ensembl 69_37n +1 known silent c.60 p.L20 0.793 NULL NULL - no_errors MLIP HGNC ENSG00000146147 200 0 0.00 90 63 41.18 - - - MUC12 0 genome.wustl.edu 37 7 100641723 100641723 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 7 100641723 100641723 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.8308 p.R2770C 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 79 0 0.00 52 14 21.21 - - - MUC12 0 genome.wustl.edu 37 7 100641723 100641723 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 7 100641723 100641723 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.8308 p.R2770C 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 108 0 0.00 52 14 21.21 - - - MYH10 0 genome.wustl.edu 37 17 8415888 8415888 + Missense_Mutation SNP C C G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 17 8415888 8415888 C G SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known missense c.2803 p.A935P 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 240 0 0.00 98 74 43.02 - - - MYH10 0 genome.wustl.edu 37 17 8415888 8415888 + Missense_Mutation SNP C C G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 17 8415888 8415888 C G SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known missense c.2803 p.A935P 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 205 0 0.00 98 74 43.02 - - - MYH8 0 genome.wustl.edu 37 17 10304870 10304870 + Missense_Mutation SNP G G C TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 17 10304870 10304870 G C SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.2921 p.T974R 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 856 1 0.12 345 331 48.96 - - - MYH8 0 genome.wustl.edu 37 17 10304870 10304870 + Missense_Mutation SNP G G C TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 17 10304870 10304870 G C SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.2921 p.T974R 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 740 0 0.00 345 331 48.96 - - - NAALADL2 0 genome.wustl.edu 37 3 175189546 175189546 + Missense_Mutation SNP G G T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 3 175189546 175189546 G T SNP NAALADL2 ENST00000454872 human ensembl 69_37n +1 known missense c.1653 p.E551D 1.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 225 1 0.44 69 48 41.03 - - - NAALADL2 0 genome.wustl.edu 37 3 175189546 175189546 + Missense_Mutation SNP G G T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 3 175189546 175189546 G T SNP NAALADL2 ENST00000454872 human ensembl 69_37n +1 known missense c.1653 p.E551D 1.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 138 0 0.00 69 48 41.03 - - - NFATC4 0 genome.wustl.edu 37 14 24845738 24845738 + Frame_Shift_Del DEL C C - TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 14 24845738 24845738 C - DEL NFATC4 ENST00000413692 human ensembl 69_37n +1 known frame_shift_del c.2484 p.P829fs 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 98 0 0.00 53 27 33.33 - - - NUP155 0 genome.wustl.edu 37 5 37349297 37349298 + Frame_Shift_Del DEL GT GT - TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 5 37349297 37349298 GT - DEL NUP155 ENST00000231498 human ensembl 69_37n -1 known frame_shift_del c.880_879 p.R294fs 1.000:0.972 pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 90 0 0.00 17 2 10.53 - - - OR51E2 0 genome.wustl.edu 37 11 4703745 4703745 + Missense_Mutation SNP G G C TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 11 4703745 4703745 G C SNP OR51E2 ENST00000396950 human ensembl 69_37n -1 known missense c.197 p.A66G 0.998 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 132 0 0.00 65 73 52.52 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 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 203 1 0.49 99 104 51.23 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 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 158 0 0.00 99 104 51.23 - - - PIK3R3 0 genome.wustl.edu 37 1 46512262 46512262 + Missense_Mutation SNP A A C TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 1 46512262 46512262 A C SNP PIK3R3 ENST00000540385 human ensembl 69_37n -1 known missense c.1115 p.L372R 1.000 prints_PI3kinase_P85 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 351 3 0.85 173 160 48.05 - - - PIK3R3 0 genome.wustl.edu 37 1 46512262 46512262 + Missense_Mutation SNP A A C TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 1 46512262 46512262 A C SNP PIK3R3 ENST00000540385 human ensembl 69_37n -1 known missense c.1115 p.L372R 1.000 prints_PI3kinase_P85 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 299 0 0.00 173 160 48.05 - - - PIWIL2 0 genome.wustl.edu 37 8 22146119 22146120 + Frame_Shift_Ins INS - - A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 8 22146119 22146120 - A INS PIWIL2 ENST00000356766 human ensembl 69_37n +1 known frame_shift_ins c.926_927 p.I311fs 1.000:0.988 superfamily_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 300 2 0.66 28 94 77.05 - - - PIWIL2 0 genome.wustl.edu 37 8 22146119 22146120 + Frame_Shift_Ins INS - - A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 8 22146119 22146120 - A INS PIWIL2 ENST00000356766 human ensembl 69_37n +1 known frame_shift_ins c.926_927 p.I311fs 1.000:0.988 superfamily_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 264 0 0.00 28 94 77.05 - - - RNU6-42 0 genome.wustl.edu 37 3 196511870 196511870 + RNA SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 3 196511870 196511870 C T SNP RNU6-42 ENST00000384165 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RNU6-42 HGNC ENSG00000206892 10 0 0.00 16 6 27.27 - - - SEZ6L2 0 genome.wustl.edu 37 16 29884037 29884037 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 16 29884037 29884037 C T SNP SEZ6L2 ENST00000537485 human ensembl 69_37n -1 known missense c.2384 p.R795Q 1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 76 0 0.00 217 49 18.42 - - - SEZ6L2 0 genome.wustl.edu 37 16 29884037 29884037 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 16 29884037 29884037 C T SNP SEZ6L2 ENST00000537485 human ensembl 69_37n -1 known missense c.2384 p.R795Q 1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 120 0 0.00 217 49 18.42 - - - SGOL2 0 genome.wustl.edu 37 2 201437004 201437004 + Frame_Shift_Del DEL T T - TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 2 201437004 201437004 T - DEL SGOL2 ENST00000357799 human ensembl 69_37n +1 known frame_shift_del c.1935 p.F648fs 0.016 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 37 0 0.00 4 2 33.33 - - - SGOL2 0 genome.wustl.edu 37 2 201437004 201437004 + Frame_Shift_Del DEL T T - TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 2 201437004 201437004 T - DEL SGOL2 ENST00000357799 human ensembl 69_37n +1 known frame_shift_del c.1935 p.F648fs 0.016 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 12 0 0.00 4 2 33.33 - - - SLC16A1 0 genome.wustl.edu 37 1 113456766 113456766 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 1 113456766 113456766 C T SNP SLC16A1 ENST00000369626 human ensembl 69_37n -1 known missense c.1250 p.G417E 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 145 1 0.68 81 68 45.64 - - - SLC16A1 0 genome.wustl.edu 37 1 113456766 113456766 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 1 113456766 113456766 C T SNP SLC16A1 ENST00000369626 human ensembl 69_37n -1 known missense c.1250 p.G417E 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 127 0 0.00 81 68 45.64 - - - SSX3 0 genome.wustl.edu 37 X 48214616 48214616 + Missense_Mutation SNP C C A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 X 48214616 48214616 C A SNP SSX3 ENST00000298396 human ensembl 69_37n -1 known missense c.69 p.K23N 0.036 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX3 HGNC ENSG00000165584 922 2 0.22 519 430 45.31 - - - SSX3 0 genome.wustl.edu 37 X 48214616 48214616 + Missense_Mutation SNP C C A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 X 48214616 48214616 C A SNP SSX3 ENST00000298396 human ensembl 69_37n -1 known missense c.69 p.K23N 0.036 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX3 HGNC ENSG00000165584 884 0 0.00 519 430 45.31 - - - TIMP3 0 genome.wustl.edu 37 22 33245467 33245467 + Silent SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 22 33245467 33245467 G A SNP TIMP3 ENST00000266085 human ensembl 69_37n +1 known silent c.150 p.K50 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 226 1 0.44 193 138 41.69 - - - TIMP3 0 genome.wustl.edu 37 22 33245467 33245467 + Silent SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 22 33245467 33245467 G A SNP TIMP3 ENST00000266085 human ensembl 69_37n +1 known silent c.150 p.K50 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 288 0 0.00 193 138 41.69 - - - TRAK1 0 genome.wustl.edu 37 3 42230525 42230525 + Missense_Mutation SNP C C T TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 3 42230525 42230525 C T SNP TRAK1 ENST00000396175 human ensembl 69_37n +1 known missense c.425 p.S142L 0.993 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 182 1 0.55 123 80 39.02 - - - ZNF675 0 genome.wustl.edu 37 19 23837311 23837311 + Nonsense_Mutation SNP T T A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 19 23837311 23837311 T A SNP ZNF675 ENST00000359788 human ensembl 69_37n -1 known nonsense c.424 p.K142* 0.319 NULL 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 ZNF675 HGNC ENSG00000197372 212 0 0.00 115 123 51.68 - - - ZSCAN2 0 genome.wustl.edu 37 15 85164438 85164438 + Missense_Mutation SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 6c7d0beb-a20c-4cf8-8e52-2028a8620bb5 15 85164438 85164438 G A SNP ZSCAN2 ENST00000448803 human ensembl 69_37n +1 known missense c.1012 p.E338K 0.726 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 128 1 0.78 59 40 40.40 - - - ZSCAN2 0 genome.wustl.edu 37 15 85164438 85164438 + Missense_Mutation SNP G G A TCGA-E2-A15K-06A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f39cc911-36a7-4c06-9e91-4ad86281db3d 26163687-7ede-43be-aeb7-21ad33133d45 15 85164438 85164438 G A SNP ZSCAN2 ENST00000448803 human ensembl 69_37n +1 known missense c.1012 p.E338K 0.726 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 85 0 0.00 59 40 40.40 - - -