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 ABCC4 0 genome.wustl.edu 37 13 95696530 95696530 + Missense_Mutation SNP C C T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 13 95696530 95696530 C T SNP ABCC4 ENST00000376887 human ensembl 69_37n -1 known missense c.3619 p.V1207M 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 169 0 0.00 138 127 47.92 - - - ADAMTS16 0 genome.wustl.edu 37 5 5237179 5237179 + Silent SNP T T C TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 5 5237179 5237179 T C SNP ADAMTS16 ENST00000274181 human ensembl 69_37n +1 known silent c.2121 p.D707 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 471 0 0.00 431 107 19.89 - - - ASXL3 0 genome.wustl.edu 37 18 31326084 31326084 + Missense_Mutation SNP G G T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 18 31326084 31326084 G T SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known missense c.6272 p.S2091I 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 156 0 0.00 124 31 20.00 - - - BRS3 0 genome.wustl.edu 37 X 135574243 135574243 + Missense_Mutation SNP C C A TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 X 135574243 135574243 C A SNP BRS3 ENST00000370648 human ensembl 69_37n +1 known missense c.909 p.D303E 0.008 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC ENSG00000102239 550 0 0.00 509 104 16.94 - - - CDHR5 0 genome.wustl.edu 37 11 624855 624855 + Silent SNP C C T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 11 624855 624855 C T SNP CDHR5 ENST00000358353 human ensembl 69_37n -1 known silent c.48 p.L16 0.007 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 39 0 0.00 22 12 35.29 - - - DDX51 0 genome.wustl.edu 37 12 132626394 132626394 + Splice_Site SNP C C G TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 12 132626394 132626394 C G SNP DDX51 ENST00000397333 human ensembl 69_37n -1 known splice_site c.995+1 e6+1 0.999 - - - no_errors DDX51 HGNC ENSG00000185163 75 0 0.00 62 34 35.42 - - - DEFB118 0 genome.wustl.edu 37 20 29960765 29960765 + Missense_Mutation SNP G G T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 20 29960765 29960765 G T SNP DEFB118 ENST00000253381 human ensembl 69_37n +1 known missense c.164 p.C55F 0.939 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 199 2 1.00 158 100 38.76 - - - EPHA2 0 genome.wustl.edu 37 1 16458583 16458583 + Silent SNP G G A TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 1 16458583 16458583 G A SNP EPHA2 ENST00000358432 human ensembl 69_37n -1 known silent c.2301 p.D767 1.000 pirsf_Tyr_kinase_ephrin_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_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 176 0 0.00 83 85 50.60 - - - GATA3 0 genome.wustl.edu 37 10 8115872 8115872 + Frame_Shift_Del DEL C C - TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 10 8115872 8115872 C - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_del c.1221 p.S408fs 0.767 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 170 0 0.00 119 56 31.11 - - - GATA3 0 genome.wustl.edu 37 10 8115874 8115874 + Frame_Shift_Del DEL C C - TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 10 8115874 8115874 C - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_del c.1223 p.S408fs 0.903 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 169 0 0.00 121 55 30.56 - - - GREM2 0 genome.wustl.edu 37 1 240656415 240656415 + Missense_Mutation SNP C C T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 1 240656415 240656415 C T SNP GREM2 ENST00000318160 human ensembl 69_37n -1 known missense c.361 p.A121T 1.000 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 60 0 0.00 69 30 29.70 - - - IRF6 0 genome.wustl.edu 37 1 209969822 209969822 + Missense_Mutation SNP G G T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 1 209969822 209969822 G T SNP IRF6 ENST00000367021 human ensembl 69_37n -1 known missense c.250 p.R84S 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 220 0 0.00 319 42 11.63 - - - LRRC28 0 genome.wustl.edu 37 15 99874160 99874160 + Missense_Mutation SNP G G T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 15 99874160 99874160 G T SNP LRRC28 ENST00000301981 human ensembl 69_37n +1 known missense c.418 p.D140Y 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 466 2 0.43 446 214 32.42 - - - MCM7 0 genome.wustl.edu 37 7 99696921 99696921 + Missense_Mutation SNP C C T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 7 99696921 99696921 C T SNP MCM7 ENST00000303887 human ensembl 69_37n -1 known missense c.382 p.A128T 0.981 superfamily_NA-bd_OB-fold-like,prints_MCM_7 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 207 0 0.00 136 96 41.38 - - - NACAD 0 genome.wustl.edu 37 7 45123685 45123685 + Silent SNP C C T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 7 45123685 45123685 C T SNP NACAD ENST00000490531 human ensembl 69_37n -1 known silent c.2094 p.K698 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 17 0 0.00 11 3 21.43 - - - NLRP8 0 genome.wustl.edu 37 19 56490781 56490781 + Silent SNP C C A TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 19 56490781 56490781 C A SNP NLRP8 ENST00000291971 human ensembl 69_37n +1 known silent c.2898 p.T966 0.032 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 125 0 0.00 67 26 27.96 - - - NOLC1 0 genome.wustl.edu 37 10 103920683 103920683 + Missense_Mutation SNP C C T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 10 103920683 103920683 C T SNP NOLC1 ENST00000405356 human ensembl 69_37n +1 known missense c.1604 p.S535F 1.000 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 68 0 0.00 43 27 38.57 - - - NT5C1B 0 genome.wustl.edu 37 2 18766032 18766032 + Missense_Mutation SNP G G A TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 2 18766032 18766032 G A SNP NT5C1B ENST00000406971 human ensembl 69_37n -1 known missense c.404 p.P135L 0.000 NULL NULL - no_errors NT5C1B HGNC ENSG00000185013 46 0 0.00 20 20 50.00 - - - NUP214 0 genome.wustl.edu 37 9 134072801 134072801 + Missense_Mutation SNP C C T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 9 134072801 134072801 C T SNP NUP214 ENST00000451030 human ensembl 69_37n +1 known missense c.3923 p.S1308F 0.077 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 332 0 0.00 272 69 20.23 - - - PDE4D 0 genome.wustl.edu 37 5 58285743 58285743 + Missense_Mutation SNP G G A TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 5 58285743 58285743 G A SNP PDE4D ENST00000340635 human ensembl 69_37n -1 known missense c.1291 p.R431W 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 155 0 0.00 98 55 35.48 - - - PELI3 0 genome.wustl.edu 37 11 66236347 66236347 + Nonsense_Mutation SNP G G T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 11 66236347 66236347 G T SNP PELI3 ENST00000320740 human ensembl 69_37n +1 known nonsense c.196 p.E66* 1.000 NULL pfam_Pellino - no_errors PELI3 HGNC ENSG00000174516 143 0 0.00 65 65 49.62 - - - PLEKHM1 0 genome.wustl.edu 37 17 43545835 43545835 + Silent SNP G G A TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 17 43545835 43545835 G A SNP PLEKHM1 ENST00000430334 human ensembl 69_37n -1 known silent c.1048 p.L350 0.345 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 419 0 0.00 87 249 74.11 - - - SEMA4G 0 genome.wustl.edu 37 10 102743085 102743085 + Missense_Mutation SNP C C T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 10 102743085 102743085 C T SNP SEMA4G ENST00000210633 human ensembl 69_37n +1 known missense c.1729 p.R577C 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4G HGNC ENSG00000095539 99 0 0.00 73 55 42.97 - - - SPAG17 0 genome.wustl.edu 37 1 118693979 118693979 + Missense_Mutation SNP G G A TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 1 118693979 118693979 G A SNP SPAG17 ENST00000336338 human ensembl 69_37n -1 known missense c.101 p.A34V 0.580 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 122 0 0.00 57 26 27.08 - - - SPAG5 0 genome.wustl.edu 37 17 26920013 26920013 + Missense_Mutation SNP G G T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 17 26920013 26920013 G T SNP SPAG5 ENST00000321765 human ensembl 69_37n -1 known missense c.249 p.F83L 0.188 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 262 0 0.00 217 41 15.89 - - - SPTB 0 genome.wustl.edu 37 14 65237718 65237718 + Missense_Mutation SNP G G A TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 14 65237718 65237718 G A SNP SPTB ENST00000389722 human ensembl 69_37n -1 known missense c.5683 p.R1895C 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 45 0 0.00 28 20 40.82 - - - TRPM3 0 genome.wustl.edu 37 9 73151247 73151247 + Nonsense_Mutation SNP G G T TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 9 73151247 73151247 G T SNP TRPM3 ENST00000423814 human ensembl 69_37n -1 known nonsense c.4827 p.C1609* 0.998 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 180 0 0.00 127 30 19.11 - - - VSTM1 0 genome.wustl.edu 37 19 54545202 54545202 + Missense_Mutation SNP C C G TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 19 54545202 54545202 C G SNP VSTM1 ENST00000338372 human ensembl 69_37n -1 known missense c.521 p.S174T 0.057 NULL smart_Ig_sub,pfscan_Ig-like - no_errors VSTM1 HGNC ENSG00000189068 159 0 0.00 76 35 31.53 - - - ZNF729 0 genome.wustl.edu 37 19 22497906 22497906 + Missense_Mutation SNP A A G TCGA-C8-A1HL-01A-11D-A135-09 TCGA-C8-A1HL-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 88c9ef88-5d85-4a4b-9c68-d9ec709a1f07 b4876746-52a8-4fc2-8454-93a4f8f0e8b6 19 22497906 22497906 A G SNP ZNF729 ENST00000357491 human ensembl 69_37n +1 known missense c.1687 p.K563E 0.942 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_stop_codon ZNF729 HGNC ENSG00000196350 58 0 0.00 9 14 60.87 - - -