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 ABCA5 0 genome.wustl.edu 37 17 67283782 67283782 + Silent SNP A A G TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 17 67283782 67283782 A G SNP ABCA5 ENST00000392677 human ensembl 69_37n -1 known silent c.2013 p.H671 0.975 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 236 0 0.00 147 18 10.91 - - - ACTN3 0 genome.wustl.edu 37 11 66322680 66322680 + Splice_Site SNP G G T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 11 66322680 66322680 G T SNP ACTN3 ENST00000502692 human ensembl 69_37n +1 known splice_site c.765+1 e6+1 1.000 - - - pseudogene ACTN3 HGNC ENSG00000248746 283 0 0.00 225 59 20.77 - - - AKR1C2 0 genome.wustl.edu 37 10 5043762 5043762 + Nonsense_Mutation SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 10 5043762 5043762 G A SNP AKR1C2 ENST00000380753 human ensembl 69_37n -1 known nonsense c.196 p.R66* 0.007 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C2 HGNC ENSG00000151632 478 0 0.00 249 51 16.94 - - - ALDH18A1 0 genome.wustl.edu 37 10 97386504 97386504 + Missense_Mutation SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 10 97386504 97386504 C T SNP ALDH18A1 ENST00000371224 human ensembl 69_37n -1 known missense c.1108 p.A370T 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 515 0 0.00 234 31 11.70 - - - ANGPT1 0 genome.wustl.edu 37 8 108359218 108359218 + Silent SNP G G C TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 8 108359218 108359218 G C SNP ANGPT1 ENST00000517746 human ensembl 69_37n -1 known silent c.405 p.L135 0.835 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT1 HGNC ENSG00000154188 438 0 0.00 302 55 15.41 - - - ANGPTL3 0 genome.wustl.edu 37 1 63066808 63066808 + Missense_Mutation SNP G G C TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 1 63066808 63066808 G C SNP ANGPTL3 ENST00000371129 human ensembl 69_37n +1 known missense c.662 p.R221T 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL3 HGNC ENSG00000132855 61 0 0.00 95 14 12.84 - - - B3GALT4 0 genome.wustl.edu 37 6 33245414 33245414 + Missense_Mutation SNP T T G TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 6 33245414 33245414 T G SNP B3GALT4 ENST00000451237 human ensembl 69_37n +1 known missense c.218 p.L73R 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 40 0 0.00 33 5 13.16 - - - BPHL 0 genome.wustl.edu 37 6 3119540 3119540 + Nonsense_Mutation SNP C C A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 6 3119540 3119540 C A SNP BPHL ENST00000424847 human ensembl 69_37n +1 known nonsense c.129 p.Y43* 0.001 NULL NULL - no_errors BPHL HGNC ENSG00000137274 45 0 0.00 37 9 19.57 - - - CAPN1 0 genome.wustl.edu 37 11 64973997 64973997 + Missense_Mutation SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 11 64973997 64973997 C T SNP CAPN1 ENST00000279247 human ensembl 69_37n +1 known missense c.1417 p.R473C 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 89 0 0.00 46 17 26.98 - - - CARNS1 0 genome.wustl.edu 37 11 67186344 67186344 + Missense_Mutation SNP C C A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 11 67186344 67186344 C A SNP CARNS1 ENST00000445895 human ensembl 69_37n +1 known missense c.482 p.T161K 1.000 NULL superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 78 0 0.00 55 17 23.61 - - - CDH4 0 genome.wustl.edu 37 20 60419731 60419731 + Missense_Mutation SNP C C A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 20 60419731 60419731 C A SNP CDH4 ENST00000360469 human ensembl 69_37n +1 known missense c.584 p.S195Y 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC ENSG00000179242 140 0 0.00 81 19 18.81 - - - CHRNB2 0 genome.wustl.edu 37 1 154542778 154542778 + Missense_Mutation SNP C C G TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 1 154542778 154542778 C G SNP CHRNB2 ENST00000368476 human ensembl 69_37n +1 known missense c.300 p.D100E 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 181 0 0.00 126 26 16.99 - - - COL1A1 0 genome.wustl.edu 37 17 48273322 48273322 + Missense_Mutation SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 17 48273322 48273322 C T SNP COL1A1 ENST00000225964 human ensembl 69_37n -1 known missense c.1018 p.A340T 0.998 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 61 0 0.00 89 10 10.10 - - - COL9A1 0 genome.wustl.edu 37 6 70942386 70942386 + Silent SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 6 70942386 70942386 G A SNP COL9A1 ENST00000357250 human ensembl 69_37n -1 known silent c.2403 p.P801 0.008 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 67 0 0.00 54 13 19.40 - - - CTSF 0 genome.wustl.edu 37 11 66335472 66335472 + Missense_Mutation SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 11 66335472 66335472 C T SNP CTSF ENST00000310325 human ensembl 69_37n -1 known missense c.295 p.V99M 0.007 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 52 0 0.00 106 22 17.19 - - - EIF3G 0 genome.wustl.edu 37 19 10229782 10229782 + Missense_Mutation SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 19 10229782 10229782 G A SNP EIF3G ENST00000253108 human ensembl 69_37n -1 known missense c.133 p.P45S 0.792 pirsf_Transl_init_eIF-3_G pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000130811 185 0 0.00 61 19 23.46 - - - EML4 0 genome.wustl.edu 37 2 42472741 42472742 + Frame_Shift_Ins INS - - A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 2 42472741 42472742 - A INS EML4 ENST00000318522 human ensembl 69_37n +1 known frame_shift_ins c.122_123 p.A43fs 0.999:0.353 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 351 0 0.00 226 53 19.00 - - - ERBB2 0 genome.wustl.edu 37 17 37880261 37880261 + Missense_Mutation SNP G G C TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 17 37880261 37880261 G C SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.2305 p.D769H 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 211 0 0.00 223 261 53.59 - - - FAM75D1 0 genome.wustl.edu 37 9 84608727 84608727 + Missense_Mutation SNP G G T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 9 84608727 84608727 G T SNP FAM75D1 ENST00000344803 human ensembl 69_37n +1 known missense c.3342 p.E1114D 0.000 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 90 0 0.00 52 18 25.71 - - - GAD2 0 genome.wustl.edu 37 10 26534920 26534920 + Missense_Mutation SNP G G T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 10 26534920 26534920 G T SNP GAD2 ENST00000259271 human ensembl 69_37n +1 known missense c.911 p.C304F 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD2 HGNC ENSG00000136750 319 0 0.00 195 62 23.85 - - - GRIA4 0 genome.wustl.edu 37 11 105481779 105481779 + Missense_Mutation SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 11 105481779 105481779 G A SNP GRIA4 ENST00000282499 human ensembl 69_37n +1 known missense c.55 p.A19T 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 248 0 0.00 138 57 29.08 - - - HNRNPH1 0 genome.wustl.edu 37 5 179043881 179043881 + Missense_Mutation SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 5 179043881 179043881 C T SNP HNRNPH1 ENST00000356731 human ensembl 69_37n -1 known missense c.1196 p.G399D 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 174 0 0.00 106 34 24.29 - - - HRNR 0 genome.wustl.edu 37 1 152191856 152191856 + Missense_Mutation SNP G G T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 1 152191856 152191856 G T SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.2249 p.S750Y 0.004 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 602 0 0.00 251 58 18.77 - - - KCTD7 0 genome.wustl.edu 37 7 66236971 66236974 + Frame_Shift_Del DEL CCTG CCTG - TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 CCTG CCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 7 66236971 66236974 CCTG - DEL KCTD7 ENST00000380828 human ensembl 69_37n +1 known frame_shift_del c.85_88 p.A30fs 0.996:0.997:0.757:1.000 pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20 pfam_VPS9,pfam_Znf_A20,smart_Znf_A20,smart_VPS9_subgr,pfscan_VPS9,pfscan_Znf_A20 - no_errors KCTD7 HGNC ENSG00000243335 230 0 0.00 73 32 30.48 - - - KRT5 0 genome.wustl.edu 37 12 52913583 52913583 + Silent SNP G G T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 12 52913583 52913583 G T SNP KRT5 ENST00000252242 human ensembl 69_37n -1 known silent c.498 p.T166 0.003 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 668 0 0.00 367 43 10.46 - - - KRTAP9-1 0 genome.wustl.edu 37 17 39346593 39346595 + In_Frame_Del DEL CCT CCT - TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 17 39346593 39346595 CCT - DEL KRTAP9-1 ENST00000398470 human ensembl 69_37n +1 known in_frame_del c.455_457 p.TC152in_frame_delS 0.001:0.010:0.140 NULL NULL - no_errors KRTAP9-1 HGNC ENSG00000240542 176 1 0.43 28 6 17.65 - - - MLC1 0 genome.wustl.edu 37 22 50502593 50502595 + In_Frame_Del DEL AGC AGC - TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 22 50502593 50502595 AGC - DEL MLC1 ENST00000311597 human ensembl 69_37n -1 known in_frame_del c.929_927 p.L310in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 63 0 0.00 29 4 12.12 - - - MTMR8 0 genome.wustl.edu 37 X 63488918 63488918 + Missense_Mutation SNP T T C TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 X 63488918 63488918 T C SNP MTMR8 ENST00000442913 human ensembl 69_37n -1 known missense c.1024 p.K342E 0.020 NULL smart_Tyr_Pase_cat - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MTMR8 HGNC ENSG00000102043 51 0 0.00 41 11 21.15 - - - MYT1L 0 genome.wustl.edu 37 2 1906950 1906950 + Missense_Mutation SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 2 1906950 1906950 G A SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known missense c.1934 p.S645L 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 444 0 0.00 230 63 21.50 - - - NCKAP1 0 genome.wustl.edu 37 2 183800041 183800041 + Missense_Mutation SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 2 183800041 183800041 C T SNP NCKAP1 ENST00000360982 human ensembl 69_37n -1 known missense c.2776 p.A926T 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 206 0 0.00 225 50 18.18 - - - OR2T11 0 genome.wustl.edu 37 1 248789815 248789815 + Silent SNP G G T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 1 248789815 248789815 G T SNP OR2T11 ENST00000330803 human ensembl 69_37n -1 known silent c.615 p.L205 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T11 HGNC ENSG00000183130 106 0 0.00 38 14 26.92 - - - OR6B3 0 genome.wustl.edu 37 2 240985219 240985219 + Missense_Mutation SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 2 240985219 240985219 G A SNP OR6B3 ENST00000319423 human ensembl 69_37n -1 known missense c.271 p.R91C 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6B3 HGNC ENSG00000178586 380 0 0.00 151 22 12.72 - - - PIK3R1 0 genome.wustl.edu 37 5 67589556 67589556 + Missense_Mutation SNP A A G TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 5 67589556 67589556 A G SNP PIK3R1 ENST00000396611 human ensembl 69_37n +1 known missense c.1319 p.D440G 1.000 superfamily_Guanylate-bd_C,prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 24 0 0.00 58 16 21.62 - - - PLCH2 0 genome.wustl.edu 37 1 2430266 2430266 + Missense_Mutation SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 1 2430266 2430266 C T SNP PLCH2 ENST00000419816 human ensembl 69_37n +1 known missense c.317 p.T106M 0.914 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_PLipase_C_Pinositol-sp_Y,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_Pinositol-sp_Y - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLCH2 HGNC ENSG00000149527 67 0 0.00 25 11 30.56 - - - PROP1 0 genome.wustl.edu 37 5 177421244 177421244 + Missense_Mutation SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 5 177421244 177421244 G A SNP PROP1 ENST00000308304 human ensembl 69_37n -1 known missense c.205 p.R69W 1.000 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors PROP1 HGNC ENSG00000175325 67 0 0.00 30 5 13.89 - - - PSMC2 0 genome.wustl.edu 37 7 103004751 103004751 + Silent SNP T T C TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 7 103004751 103004751 T C SNP PSMC2 ENST00000292644 human ensembl 69_37n +1 known silent c.753 p.G251 0.991 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 179 0 0.00 68 32 32.00 - - - SCLT1 0 genome.wustl.edu 37 4 129880840 129880840 + Missense_Mutation SNP T T A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 4 129880840 129880840 T A SNP SCLT1 ENST00000281142 human ensembl 69_37n -1 known missense c.962 p.E321V 0.006 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 335 0 0.00 262 73 21.73 - - - SGK494 0 genome.wustl.edu 37 17 26938661 26938661 + Silent SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 17 26938661 26938661 C T SNP SGK494 ENST00000301037 human ensembl 69_37n -1 known silent c.735 p.L245 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK494 Clone_based_vega_gene ENSG00000167524 260 0 0.00 117 45 27.61 - - - SGPP2 0 genome.wustl.edu 37 2 223423433 223423433 + Missense_Mutation SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 2 223423433 223423433 G A SNP SGPP2 ENST00000321276 human ensembl 69_37n +1 known missense c.1016 p.R339H 0.997 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP2 HGNC ENSG00000163082 354 0 0.00 171 32 15.61 - - - SH2B1 0 genome.wustl.edu 37 16 28880551 28880551 + Missense_Mutation SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 16 28880551 28880551 C T SNP SH2B1 ENST00000322610 human ensembl 69_37n +1 known missense c.1156 p.R386C 0.995 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2 - no_errors SH2B1 HGNC ENSG00000178188 212 0 0.00 125 19 13.19 - - - SLC25A19 0 genome.wustl.edu 37 17 73274371 73274371 + Missense_Mutation SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 17 73274371 73274371 C T SNP SLC25A19 ENST00000320362 human ensembl 69_37n -1 known missense c.505 p.E169K 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A19 HGNC ENSG00000125454 121 0 0.00 107 13 10.83 - - - SLC4A2 0 genome.wustl.edu 37 7 150761705 150761705 + Missense_Mutation SNP C C T TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 7 150761705 150761705 C T SNP SLC4A2 ENST00000413384 human ensembl 69_37n +1 known missense c.310 p.R104W 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 219 0 0.00 77 13 14.29 - - - SPIRE1 0 genome.wustl.edu 37 18 12479722 12479722 + Silent SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 18 12479722 12479722 G A SNP SPIRE1 ENST00000409402 human ensembl 69_37n -1 known silent c.1380 p.A460 0.881 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 220 0 0.00 120 15 11.03 - - - TEK 0 genome.wustl.edu 37 9 27209143 27209143 + Missense_Mutation SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 9 27209143 27209143 G A SNP TEK ENST00000380036 human ensembl 69_37n +1 known missense c.2600 p.R867K 1.000 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_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 208 0 0.00 134 31 18.79 - - - TP53 0 genome.wustl.edu 37 17 7577558 7577558 + Frame_Shift_Del DEL G G - TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 17 7577558 7577558 G - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.723 p.C242fs 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 274 0 0.00 66 23 25.84 - - - VPS54 0 genome.wustl.edu 37 2 64147047 64147047 + Missense_Mutation SNP T T C TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 2 64147047 64147047 T C SNP VPS54 ENST00000272322 human ensembl 69_37n -1 known missense c.2134 p.K712E 1.000 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 123 0 0.00 118 25 17.36 - - - ZFPM2 0 genome.wustl.edu 37 8 106815514 106815514 + Silent SNP G G A TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 8 106815514 106815514 G A SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known silent c.3204 p.Q1068 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 142 1 0.70 149 40 21.16 - - - ZNF12 0 genome.wustl.edu 37 7 6730822 6730822 + Missense_Mutation SNP T T C TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 7 6730822 6730822 T C SNP ZNF12 ENST00000405858 human ensembl 69_37n -1 known missense c.1751 p.K584R 1.000 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 ZNF12 HGNC ENSG00000164631 267 0 0.00 102 45 30.61 - - - ZNF469 0 genome.wustl.edu 37 16 88505324 88505324 + Missense_Mutation SNP A A C TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 16 88505324 88505324 A C SNP ZNF469 ENST00000437464 human ensembl 69_37n +1 known missense c.11362 p.K3788Q 0.210 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 51 0 0.00 32 4 11.11 - - - ZSCAN18 0 genome.wustl.edu 37 19 58601320 58601320 + Silent SNP G G C TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b47c22f-8b4e-40fd-9a12-18b539521224 4fef2aff-1a1d-434a-910b-ce94fff48677 19 58601320 58601320 G C SNP ZSCAN18 ENST00000433686 human ensembl 69_37n -1 known silent c.483 p.V161 0.063 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 126 0 0.00 56 20 26.32 - - -