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 CEP57 0 genome.wustl.edu 37 11 95561001 95561002 + Frame_Shift_Ins INS - - T TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 11 95561001 95561002 - T INS CEP57 ENST00000325542 human ensembl 69_37n +1 known frame_shift_ins c.937_938 p.M314fs 1.000:0.997 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 86 0 0.00 38 22 36.67 - - - DUSP19 0 genome.wustl.edu 37 2 183943684 183943684 + Missense_Mutation SNP T T C TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 2 183943684 183943684 T C SNP DUSP19 ENST00000354221 human ensembl 69_37n +1 known missense c.23 p.I8T 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP19 HGNC ENSG00000162999 78 0 0.00 34 13 27.66 - - - FAM154A 0 genome.wustl.edu 37 9 19032889 19032889 + Silent SNP G G A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 9 19032889 19032889 G A SNP FAM154A ENST00000380534 human ensembl 69_37n -1 known silent c.18 p.I6 1.000 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 46 0 0.00 26 5 16.13 - - - HIST1H3B 0 genome.wustl.edu 37 6 26032071 26032071 + Missense_Mutation SNP C C G TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 6 26032071 26032071 C G SNP HIST1H3B ENST00000244661 human ensembl 69_37n -1 known missense c.218 p.R73P 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 75 0 0.00 64 8 10.96 - - - IQGAP1 0 genome.wustl.edu 37 15 90969467 90969470 + Frame_Shift_Del DEL AAAT AAAT - TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 AAAT AAAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 15 90969467 90969470 AAAT - DEL IQGAP1 ENST00000268182 human ensembl 69_37n +1 known frame_shift_del c.281_284 p.K94fs 1.000:1.000:1.000:1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 81 0 0.00 47 9 16.07 - - - KCNJ14 0 genome.wustl.edu 37 19 48967521 48967521 + Missense_Mutation SNP C C G TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 19 48967521 48967521 C G SNP KCNJ14 ENST00000342291 human ensembl 69_37n +1 known missense c.798 p.I266M 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 - no_errors KCNJ14 HGNC ENSG00000182324 88 0 0.00 40 7 14.89 - - - LAIR2 0 genome.wustl.edu 37 19 55019321 55019321 + Missense_Mutation SNP G G A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 19 55019321 55019321 G A SNP LAIR2 ENST00000301202 human ensembl 69_37n +1 known missense c.286 p.A96T 0.000 smart_Ig_sub smart_Ig_sub - no_errors LAIR2 HGNC ENSG00000167618 86 0 0.00 33 11 25.00 - - - LLGL2 0 genome.wustl.edu 37 17 73566549 73566549 + Silent SNP G G A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 17 73566549 73566549 G A SNP LLGL2 ENST00000392550 human ensembl 69_37n +1 known silent c.1995 p.R665 0.925 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 23 0 0.00 14 5 25.00 - - - LRRC37A2 0 genome.wustl.edu 37 17 44623731 44623731 + Missense_Mutation SNP C C T TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 17 44623731 44623731 C T SNP LRRC37A2 ENST00000333412 human ensembl 69_37n +1 known missense c.3164 p.T1055I 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 11 0 0.00 12 5 29.41 - - - LRRTM3 0 genome.wustl.edu 37 10 68857462 68857462 + Missense_Mutation SNP G G C TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 10 68857462 68857462 G C SNP LRRTM3 ENST00000361320 human ensembl 69_37n +1 known missense c.1654 p.D552H 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 80 0 0.00 51 7 12.07 - - - LUC7L2 0 genome.wustl.edu 37 7 139097295 139097295 + Splice_Site SNP A A G TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 7 139097295 139097295 A G SNP LUC7L2 ENST00000541515 human ensembl 69_37n +1 known splice_site c.978-2 e9-2 1.000 - - - no_errors LUC7L2 HGNC ENSG00000146963 120 0 0 55 42 43.3 - - - MLL3 0 genome.wustl.edu 37 7 151859625 151859625 + Frame_Shift_Del DEL T T - TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 7 151859625 151859625 T - DEL MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_del c.11037 p.E3679fs 0.004 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 125 0 0.00 91 20 17.86 - - - NOSIP 0 genome.wustl.edu 37 19 50059664 50059664 + Silent SNP G G A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 19 50059664 50059664 G A SNP NOSIP ENST00000339093 human ensembl 69_37n -1 known silent c.744 p.L248 0.003 pirsf_Nitric_oxide_synth-interacting pirsf_Nitric_oxide_synth-interacting - no_errors NOSIP HGNC ENSG00000142546 30 0 0.00 16 5 23.81 - - - PCDHGA3 0 genome.wustl.edu 37 5 140725783 140725783 + Missense_Mutation SNP C C T TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 5 140725783 140725783 C T SNP PCDHGA3 ENST00000253812 human ensembl 69_37n +1 known missense c.2183 p.S728L 0.067 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 109 0 0.00 58 29 33.33 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 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 36 0 0.00 15 51 77.27 - - - PLEKHG1 0 genome.wustl.edu 37 6 151152648 151152648 + Missense_Mutation SNP C C G TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 6 151152648 151152648 C G SNP PLEKHG1 ENST00000358517 human ensembl 69_37n +1 known missense c.2401 p.Q801E 0.126 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 86 0 0.00 48 10 17.24 - - - POLE2 0 genome.wustl.edu 37 14 50118020 50118020 + Silent SNP A A T TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 14 50118020 50118020 A T SNP POLE2 ENST00000216367 human ensembl 69_37n -1 known silent c.1287 p.R429 0.997 pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_e_bsu pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu - no_errors POLE2 HGNC ENSG00000100479 71 0 0.00 79 63 44.37 - - - RMI1 0 genome.wustl.edu 37 9 86616967 86616967 + Missense_Mutation SNP C C A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 9 86616967 86616967 C A SNP RMI1 ENST00000325875 human ensembl 69_37n +1 known missense c.1066 p.P356T 0.004 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 57 0 0.00 33 4 10.81 - - - RRP1 0 genome.wustl.edu 37 21 45222219 45222219 + Silent SNP G G A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 21 45222219 45222219 G A SNP RRP1 ENST00000497547 human ensembl 69_37n +1 known silent c.1074 p.Q358 0.000 NULL pfam_Nop52 - no_errors RRP1 HGNC ENSG00000160214 73 0 0.00 36 6 14.29 - - - SGK3 0 genome.wustl.edu 37 8 67716646 67716646 + Missense_Mutation SNP C C A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 8 67716646 67716646 C A SNP SGK3 ENST00000262211 human ensembl 69_37n +1 known missense c.217 p.P73T 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors SGK3 HGNC ENSG00000104205 77 0 0.00 32 4 11.11 - - - SLC17A8 0 genome.wustl.edu 37 12 100795586 100795586 + Silent SNP C C A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 12 100795586 100795586 C A SNP SLC17A8 ENST00000323346 human ensembl 69_37n +1 known silent c.708 p.P236 0.736 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 191 0 0.00 121 39 24.22 - - - SLC37A2 0 genome.wustl.edu 37 11 124949049 124949049 + Missense_Mutation SNP C C T TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 11 124949049 124949049 C T SNP SLC37A2 ENST00000308074 human ensembl 69_37n +1 known missense c.356 p.S119L 0.044 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 89 0 0.00 47 9 16.07 - - - SPOPL 0 genome.wustl.edu 37 2 139316712 139316712 + Missense_Mutation SNP G G T TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 2 139316712 139316712 G T SNP SPOPL ENST00000280098 human ensembl 69_37n +1 known missense c.601 p.D201Y 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 106 0 0.00 49 9 15.52 - - - STAP2 0 genome.wustl.edu 37 19 4324465 4324465 + Silent SNP G G C TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 19 4324465 4324465 G C SNP STAP2 ENST00000314714 human ensembl 69_37n -1 known silent c.1272 p.L424 0.000 NULL pfscan_SH2 - no_errors STAP2 HGNC ENSG00000178078 21 0 0.00 28 6 17.65 - - - TACC1 0 genome.wustl.edu 37 8 38693781 38693781 + Missense_Mutation SNP C C T TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 8 38693781 38693781 C T SNP TACC1 ENST00000521866 human ensembl 69_37n +1 putative missense c.1088 p.P363L 0.223 pfam_TACC pfam_TACC - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TACC1 HGNC ENSG00000147526 57 0 0.00 37 7 15.91 - - - TTN 0 genome.wustl.edu 37 2 179640219 179640219 + Silent SNP G G A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 2 179640219 179640219 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.6372 p.I2124 0.997 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,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 69 0 0.00 43 10 18.87 - - - UBE4A 0 genome.wustl.edu 37 11 118255404 118255404 + Missense_Mutation SNP T T G TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 11 118255404 118255404 T G SNP UBE4A ENST00000431736 human ensembl 69_37n +1 known missense c.2273 p.I758S 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 78 0 0.00 43 11 20.37 - - - USP5 0 genome.wustl.edu 37 12 6972518 6972518 + Frame_Shift_Del DEL C C - TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 12 6972518 6972518 C - DEL USP5 ENST00000229268 human ensembl 69_37n +1 known frame_shift_del c.1931 p.P645fs 1.000 pfam_Peptidase_C19,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP5 HGNC ENSG00000111667 100 0 0.00 83 13 13.54 - - - WDR60 0 genome.wustl.edu 37 7 158734770 158734770 + Missense_Mutation SNP A A G TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 7 158734770 158734770 A G SNP WDR60 ENST00000407559 human ensembl 69_37n +1 known missense c.2933 p.N978S 0.004 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 29 0 0.00 8 5 38.46 - - - WIPF1 0 genome.wustl.edu 37 2 175446104 175446104 + Missense_Mutation SNP C C G TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 2 175446104 175446104 C G SNP WIPF1 ENST00000272746 human ensembl 69_37n -1 known missense c.115 p.D39H 1.000 smart_WH2_dom,pfscan_WH2_dom smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 171 0 0.00 117 18 13.33 - - - ZFAT 0 genome.wustl.edu 37 8 135614282 135614282 + Silent SNP C C A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 8 135614282 135614282 C A SNP ZFAT ENST00000377838 human ensembl 69_37n -1 known silent c.1680 p.V560 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 29 0 0.00 7 7 50.00 - - - ZNF347 0 genome.wustl.edu 37 19 53643755 53643755 + Nonsense_Mutation SNP G G A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b 9636c488-836e-43f1-a9c4-4fbcf7d704fc 19 53643755 53643755 G A SNP ZNF347 ENST00000452676 human ensembl 69_37n -1 known nonsense c.2329 p.Q777* 0.000 pfam_Znf_C2H2,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 ZNF347 HGNC ENSG00000197937 126 0 0.00 63 9 12.50 - - -