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 ADAMTS7 0 genome.wustl.edu 37 15 79058298 79058298 + Missense_Mutation SNP T T C TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 15 79058298 79058298 T C SNP ADAMTS7 ENST00000388820 human ensembl 69_37n -1 known missense c.3955 p.T1319A 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 8 0 0.00 3 3 50.00 - - - ANKRD12 0 genome.wustl.edu 37 18 9255050 9255051 + Frame_Shift_Del DEL AA AA - TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 18 9255050 9255051 AA - DEL ANKRD12 ENST00000262126 human ensembl 69_37n +1 known frame_shift_del c.1785_1786 p.S596fs 0.892:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD12 HGNC ENSG00000101745 18 0 0.00 10 4 28.57 - - - CHTF18 0 genome.wustl.edu 37 16 845185 845186 + Frame_Shift_Del DEL TG TG - TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 16 845185 845186 TG - DEL CHTF18 ENST00000317063 human ensembl 69_37n +1 known frame_shift_del c.2631_2632 p.V880fs 0.001:0.996 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 27 0 0.00 15 2 11.76 - - - DUS4L 0 genome.wustl.edu 37 7 107215657 107215657 + Missense_Mutation SNP G G T TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 7 107215657 107215657 G T SNP DUS4L ENST00000422290 human ensembl 69_37n +1 known missense c.263 p.G88V 0.999 NULL pfam_tRNA_hU_synthase - no_errors DUS4L HGNC ENSG00000105865 55 0 0.00 28 4 12.50 - - - EHMT1 0 genome.wustl.edu 37 9 140710464 140710464 + Silent SNP G G A TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 9 140710464 140710464 G A SNP EHMT1 ENST00000460843 human ensembl 69_37n +1 known silent c.3324 p.A1108 0.912 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 31 0 0.00 17 5 22.73 - - - FAM179B 0 genome.wustl.edu 37 14 45465069 45465069 + Missense_Mutation SNP G G T TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 14 45465069 45465069 G T SNP FAM179B ENST00000361577 human ensembl 69_37n +1 known missense c.2167 p.D723Y 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 95 0 0.00 49 10 16.95 - - - FBXO15 0 genome.wustl.edu 37 18 71797870 71797870 + Nonsense_Mutation SNP G G C TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 18 71797870 71797870 G C SNP FBXO15 ENST00000419743 human ensembl 69_37n -1 known nonsense c.356 p.S119* 0.955 superfamily_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC ENSG00000141665 60 0 0.00 31 11 26.19 - - - FLI1 0 genome.wustl.edu 37 11 128628222 128628222 + Splice_Site SNP G G A TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 11 128628222 128628222 G A SNP FLI1 ENST00000429175 human ensembl 69_37n +1 known splice_site c.230+1 e2+1 1.000 - - - no_errors FLI1 HGNC ENSG00000151702 48 0 0.00 25 7 21.88 - - - FOLR1 0 genome.wustl.edu 37 11 71906691 71906691 + Silent SNP C C T TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 11 71906691 71906691 C T SNP FOLR1 ENST00000312293 human ensembl 69_37n +1 known silent c.393 p.N131 0.328 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR1 HGNC ENSG00000110195 43 0 0.00 26 10 27.78 - - - FOXA1 0 genome.wustl.edu 37 14 38060747 38060748 + Frame_Shift_Ins INS - - T TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 14 38060747 38060748 - T INS FOXA1 ENST00000250448 human ensembl 69_37n -1 known frame_shift_ins c.1242_1241 p.L415fs 1.000:1.000 pfam_Forkhead_box_C pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 55 0 0.00 31 6 16.22 - - - KRI1 0 genome.wustl.edu 37 19 10676488 10676488 + Frame_Shift_Del DEL C C - TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 19 10676488 10676488 C - DEL KRI1 ENST00000361821 human ensembl 69_37n -1 putative frame_shift_del c.79 p.A27fs 0.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 10 0 0.00 4 2 33.33 - - - LAMA5 0 genome.wustl.edu 37 20 60937537 60937537 + Silent SNP G G A TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 20 60937537 60937537 G A SNP LAMA5 ENST00000252999 human ensembl 69_37n -1 known silent c.369 p.G123 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 38 0 0.00 21 8 27.59 - - - LUC7L2 0 genome.wustl.edu 37 7 139083442 139083445 + Frame_Shift_Del DEL ATGT ATGT - TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 ATGT ATGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 7 139083442 139083445 ATGT - DEL LUC7L2 ENST00000541515 human ensembl 69_37n +1 known frame_shift_del c.452_453 p.D151fs 1.000:1.000 pfam_LUC7-rel pfam_LUC7-rel - no_errors LUC7L2 HGNC ENSG00000146963 107 0 0.00 62 9 12.68 - - - LYSMD1 0 genome.wustl.edu 37 1 151137721 151137721 + Missense_Mutation SNP G G A TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 1 151137721 151137721 G A SNP LYSMD1 ENST00000368908 human ensembl 69_37n -1 known missense c.14 p.S5F 0.995 NULL pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr - no_errors LYSMD1 HGNC ENSG00000163155 17 0 0.00 11 4 26.67 - - - MATN2 0 genome.wustl.edu 37 8 99039661 99039661 + Missense_Mutation SNP A A C TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 8 99039661 99039661 A C SNP MATN2 ENST00000254898 human ensembl 69_37n +1 known missense c.1960 p.I654L 0.004 smart_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 31 0 0.00 11 6 35.29 - - - MCC 0 genome.wustl.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 5 112824048 112824049 - GCC INS MCC ENST00000408903 human ensembl 69_37n -1 putative in_frame_ins c.64_63 p.21in_frame_insG 0.854:0.894 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MCC HGNC ENSG00000171444 10 0 0.00 4 4 50.00 - - - MIR635 0 genome.wustl.edu 37 17 66420616 66420616 + RNA SNP C C A TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 17 66420616 66420616 C A SNP MIR635 ENST00000384830 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR635 HGNC ENSG00000207561 65 0 0.00 28 12 30.00 - - - MYB 0 genome.wustl.edu 37 6 135511266 135511266 + Missense_Mutation SNP T T C TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 6 135511266 135511266 T C SNP MYB ENST00000341911 human ensembl 69_37n +1 known missense c.308 p.V103A 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 77 0 0.00 28 5 15.15 - - - NUP107 0 genome.wustl.edu 37 12 69135710 69135710 + Missense_Mutation SNP T T C TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 12 69135710 69135710 T C SNP NUP107 ENST00000229179 human ensembl 69_37n +1 known missense c.2620 p.C874R 0.997 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 107 0 0.00 33 12 26.67 - - - OSBPL9 0 genome.wustl.edu 37 1 52227617 52227617 + Missense_Mutation SNP A A T TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 1 52227617 52227617 A T SNP OSBPL9 ENST00000371710 human ensembl 69_37n +1 known missense c.806 p.H269L 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 82 0 0.00 30 5 14.29 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 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 55 0 0.00 28 21 42.86 - - - PLD6 0 genome.wustl.edu 37 17 17106185 17106185 + Missense_Mutation SNP G G A TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 17 17106185 17106185 G A SNP PLD6 ENST00000321560 human ensembl 69_37n -1 known missense c.655 p.P219S 0.054 NULL smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD6 HGNC ENSG00000179598 42 0 0.00 43 10 18.87 - - - RBM20 0 genome.wustl.edu 37 10 112583260 112583260 + Missense_Mutation SNP G G T TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 10 112583260 112583260 G T SNP RBM20 ENST00000369519 human ensembl 69_37n +1 known missense c.3339 p.M1113I 0.821 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 31 0 0.00 11 5 31.25 - - - RHOBTB1 0 genome.wustl.edu 37 10 62671216 62671216 + Missense_Mutation SNP G G A TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 10 62671216 62671216 G A SNP RHOBTB1 ENST00000337910 human ensembl 69_37n -1 known missense c.85 p.R29C 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 65 0 0.00 34 15 30.61 - - - SCN9A 0 genome.wustl.edu 37 2 167141168 167141171 + Frame_Shift_Del DEL ACAA ACAA - TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 2 167141168 167141171 ACAA - DEL SCN9A ENST00000303354 human ensembl 69_37n -1 known frame_shift_del c.1772_1769 p.F590fs 1.000:0.499:0.383:1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 47 0 0.00 40 8 16.00 - - - SEC24A 0 genome.wustl.edu 37 5 133996823 133996823 + Missense_Mutation SNP G G A TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 5 133996823 133996823 G A SNP SEC24A ENST00000398844 human ensembl 69_37n +1 known missense c.112 p.A38T 0.648 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 40 0 0.00 18 5 21.74 - - - SLC6A14 0 genome.wustl.edu 37 X 115574821 115574821 + Silent SNP T T C TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 X 115574821 115574821 T C SNP SLC6A14 ENST00000371900 human ensembl 69_37n +1 known silent c.519 p.C173 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 53 0 0.00 24 10 29.41 - - - TPRXL 0 genome.wustl.edu 37 3 14106354 14106354 + Silent SNP C C T TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 3 14106354 14106354 C T SNP TPRXL ENST00000326972 human ensembl 69_37n +1 known silent c.678 p.S226 0.580 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 8 0 0.00 3 4 57.14 - - - TTYH1 0 genome.wustl.edu 37 19 54941109 54941109 + Missense_Mutation SNP C C G TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 19 54941109 54941109 C G SNP TTYH1 ENST00000376531 human ensembl 69_37n +1 known missense c.857 p.T286S 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 48 0 0.00 25 4 13.79 - - - ULK3 0 genome.wustl.edu 37 15 75131031 75131031 + Missense_Mutation SNP T T C TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 15 75131031 75131031 T C SNP ULK3 ENST00000440863 human ensembl 69_37n -1 known missense c.1055 p.N352S 1.000 smart_MIT pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_cat_dom - no_errors ULK3 HGNC ENSG00000140474 19 0 0.00 14 6 30.00 - - - VSIG1 0 genome.wustl.edu 37 X 107310235 107310235 + Missense_Mutation SNP G G T TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 X 107310235 107310235 G T SNP VSIG1 ENST00000415430 human ensembl 69_37n +1 known missense c.391 p.D131Y 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 53 0 0.00 35 4 10.26 - - - ZNF879 0 genome.wustl.edu 37 5 178459857 178459857 + Missense_Mutation SNP T T A TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f7038bb-fd25-468e-8bd9-dcd4312d13cb d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1 5 178459857 178459857 T A SNP ZNF879 ENST00000444149 human ensembl 69_37n +1 known missense c.908 p.L303H 0.849 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 ZNF879 HGNC ENSG00000234284 35 0 0.00 10 10 50.00 - - -