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 ABCC9 0 genome.wustl.edu 37 12 22068664 22068664 + Missense_Mutation SNP G G T TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 12 22068664 22068664 G T SNP ABCC9 ENST00000261200 human ensembl 69_37n -1 known missense c.754 p.P252T 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 59 0 0.00 88 16 15.38 - - - ADAMTS12 0 genome.wustl.edu 37 5 33658359 33658359 + Missense_Mutation SNP G G A TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 5 33658359 33658359 G A SNP ADAMTS12 ENST00000504830 human ensembl 69_37n -1 known missense c.1120 p.R374C 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 38 0 0.00 56 14 20.00 - - - AHRR 0 genome.wustl.edu 37 5 434764 434764 + Missense_Mutation SNP C C T TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 5 434764 434764 C T SNP AHRR ENST00000316418 human ensembl 69_37n +1 known missense c.1975 p.R659W 0.000 NULL pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors AHRR HGNC ENSG00000063438 12 0 0.00 9 5 35.71 - - - AVIL 0 genome.wustl.edu 37 12 58197340 58197341 + Frame_Shift_Ins INS - - GT TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 12 58197340 58197341 - GT INS AVIL ENST00000257861 human ensembl 69_37n -1 known frame_shift_ins c.1784_1783 p.L595fs 1.000:0.992 smart_Gelsolin,prints_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors AVIL HGNC ENSG00000135407 13 0 0.00 36 6 14.29 - - - CD200R1 0 genome.wustl.edu 37 3 112648154 112648154 + Missense_Mutation SNP C C A TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 3 112648154 112648154 C A SNP CD200R1 ENST00000308611 human ensembl 69_37n -1 known missense c.403 p.D135Y 0.552 NULL pfam_CD80_C2-set,pfscan_Ig-like - no_errors CD200R1 HGNC ENSG00000163606 108 0 0.00 149 18 10.78 - - - CDH1 0 genome.wustl.edu 37 16 68842433 68842433 + Frame_Shift_Del DEL A A - TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 16 68842433 68842433 A - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.494 p.N166fs 1.000 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 39 0 0.00 38 14 26.92 - - - CNTRL 0 genome.wustl.edu 37 9 123922564 123922564 + Missense_Mutation SNP G G A TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 9 123922564 123922564 G A SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known missense c.5073 p.M1691I 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 13 0 0.00 19 6 24.00 - - - CROCCP2 0 genome.wustl.edu 37 1 16946407 16946407 + RNA SNP T T G TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 1 16946407 16946407 T G SNP CROCCP2 ENST00000412962 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 46 0 0.00 27 4 12.90 - - - CSPP1 0 genome.wustl.edu 37 8 68062079 68062079 + Silent SNP A A G TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 8 68062079 68062079 A G SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known silent c.2022 p.T674 0.175 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 47 0 0.00 84 17 16.83 - - - FAM189A1 0 genome.wustl.edu 37 15 29443953 29443953 + Missense_Mutation SNP G G C TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 15 29443953 29443953 G C SNP FAM189A1 ENST00000261275 human ensembl 69_37n -1 known missense c.614 p.S205C 0.332 NULL pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 33 0 0.00 24 7 22.58 - - - GABRA1 0 genome.wustl.edu 37 5 161324182 161324182 + Silent SNP C C T TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 5 161324182 161324182 C T SNP GABRA1 ENST00000023897 human ensembl 69_37n +1 known silent c.1125 p.Y375 0.997 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 56 0 0.00 68 12 15.00 - - - GPRC6A 0 genome.wustl.edu 37 6 117130687 117130687 + Silent SNP C C G TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 6 117130687 117130687 C G SNP GPRC6A ENST00000310357 human ensembl 69_37n -1 known silent c.288 p.G96 0.830 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 55 0 0.00 64 12 15.79 - - - GTSE1 0 genome.wustl.edu 37 22 46719150 46719150 + Missense_Mutation SNP C C T TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 22 46719150 46719150 C T SNP GTSE1 ENST00000454366 human ensembl 69_37n +1 known missense c.1496 p.S499L 0.004 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 43 0 0.00 30 6 16.22 - - - IKBKAP 0 genome.wustl.edu 37 9 111663920 111663920 + Silent SNP G G A TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 9 111663920 111663920 G A SNP IKBKAP ENST00000374647 human ensembl 69_37n -1 known silent c.1896 p.I632 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 39 0 0.00 61 11 15.28 - - - KLB 0 genome.wustl.edu 37 4 39439521 39439521 + Missense_Mutation SNP G G A TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 4 39439521 39439521 G A SNP KLB ENST00000257408 human ensembl 69_37n +1 known missense c.1511 p.R504Q 0.001 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 55 0 0.00 64 12 15.38 - - - LGALS2 0 genome.wustl.edu 37 22 37966365 37966365 + Nonsense_Mutation SNP C C A TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 22 37966365 37966365 C A SNP LGALS2 ENST00000215886 human ensembl 69_37n -1 known nonsense c.304 p.E102* 0.009 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS2 HGNC ENSG00000100079 54 0 0.00 48 6 11.11 - - - MAS1L 0 genome.wustl.edu 37 6 29455668 29455668 + Frame_Shift_Del DEL C C - TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 6 29455668 29455668 C - DEL MAS1L ENST00000377127 human ensembl 69_37n -1 known frame_shift_del c.12 p.I6fs 0.005 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 17 0 0.00 13 2 13.33 - - - MBNL1 0 genome.wustl.edu 37 3 152165442 152165442 + Missense_Mutation SNP A A G TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 3 152165442 152165442 A G SNP MBNL1 ENST00000282486 human ensembl 69_37n +1 known missense c.895 p.K299E 1.000 NULL smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 41 0 0.00 59 11 15.71 - - - MEGF10 0 genome.wustl.edu 37 5 126792857 126792857 + Silent SNP T T C TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 5 126792857 126792857 T C SNP MEGF10 ENST00000274473 human ensembl 69_37n +1 known silent c.3270 p.N1090 0.501 NULL pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 46 0 0.00 49 10 16.95 - - - OR2T33 0 genome.wustl.edu 37 1 248436177 248436177 + Missense_Mutation SNP T T C TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 1 248436177 248436177 T C SNP OR2T33 ENST00000318021 human ensembl 69_37n -1 known missense c.940 p.N314D 0.015 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 35 0 0.00 43 10 18.87 - - - PCDHGB1 0 genome.wustl.edu 37 5 140730020 140730020 + Missense_Mutation SNP C C T TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 5 140730020 140730020 C T SNP PCDHGB1 ENST00000523390 human ensembl 69_37n +1 known missense c.193 p.R65W 0.229 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 50 0 0.00 47 38 44.71 - - - PLVAP 0 genome.wustl.edu 37 19 17476703 17476703 + Missense_Mutation SNP G G A TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 19 17476703 17476703 G A SNP PLVAP ENST00000252590 human ensembl 69_37n -1 known missense c.571 p.R191C 0.009 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 28 0 0.00 31 9 21.43 - - - POGZ 0 genome.wustl.edu 37 1 151379720 151379720 + Missense_Mutation SNP T T C TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 1 151379720 151379720 T C SNP POGZ ENST00000271715 human ensembl 69_37n -1 known missense c.2423 p.N808S 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 55 0 0.00 72 12 14.29 - - - PSMG3 0 genome.wustl.edu 37 7 1607460 1607460 + Missense_Mutation SNP G G C TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 7 1607460 1607460 G C SNP PSMG3 ENST00000252329 human ensembl 69_37n -1 known missense c.243 p.N81K 1.000 pfam_Proteasome_assmbl_chp_3 pfam_Proteasome_assmbl_chp_3 - no_errors PSMG3 HGNC ENSG00000157778 32 0 0.00 34 6 14.63 - - - RBMX 0 genome.wustl.edu 37 X 135960146 135960147 + Frame_Shift_Ins INS - - AA TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c X 135960146 135960147 - AA INS RBMX ENST00000320676 human ensembl 69_37n -1 known frame_shift_ins c.316_315 p.P105fs 1.000:1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 49 0 0.00 61 8 11.59 - - - RYR2 0 genome.wustl.edu 37 1 237777819 237777819 + Missense_Mutation SNP A A T TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 1 237777819 237777819 A T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.5385 p.E1795D 0.968 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 30 0 0.00 41 22 34.92 - - - SCN8A 0 genome.wustl.edu 37 12 52162755 52162755 + Missense_Mutation SNP G G A TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 12 52162755 52162755 G A SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known missense c.3008 p.R1003H 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 36 0 0.00 39 10 20.41 - - - SCNN1G 0 genome.wustl.edu 37 16 23200787 23200787 + Missense_Mutation SNP G G A TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 16 23200787 23200787 G A SNP SCNN1G ENST00000300061 human ensembl 69_37n +1 known missense c.413 p.R138Q 0.682 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 24 0 0.00 17 6 26.09 - - - SLC22A12 0 genome.wustl.edu 37 11 64361228 64361228 + Silent SNP G G T TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 11 64361228 64361228 G T SNP SLC22A12 ENST00000377574 human ensembl 69_37n +1 known silent c.783 p.L261 0.707 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 48 0 0.00 51 6 10.53 - - - TMPRSS15 0 genome.wustl.edu 37 21 19770211 19770211 + Missense_Mutation SNP C C G TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 21 19770211 19770211 C G SNP TMPRSS15 ENST00000284885 human ensembl 69_37n -1 known missense c.329 p.R110T 0.869 pfam_SEA,smart_SEA,pfscan_SEA pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS15 HGNC ENSG00000154646 23 0 0.00 34 6 15.00 - - - TTLL6 0 genome.wustl.edu 37 17 46846360 46846360 + Missense_Mutation SNP C C G TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 17 46846360 46846360 C G SNP TTLL6 ENST00000393382 human ensembl 69_37n -1 known missense c.2667 p.E889D 0.696 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 40 0 0.00 54 6 10.00 - - - USP47 0 genome.wustl.edu 37 11 11964387 11964387 + Missense_Mutation SNP A A G TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 11 11964387 11964387 A G SNP USP47 ENST00000399455 human ensembl 69_37n +1 known missense c.2879 p.D960G 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP47 HGNC ENSG00000170242 39 0 0.00 40 15 27.27 - - - VCX3B 0 genome.wustl.edu 37 X 8434101 8434101 + Missense_Mutation SNP G G A TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c X 8434101 8434101 G A SNP VCX3B ENST00000381029 human ensembl 69_37n +1 known missense c.352 p.V118M 0.004 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 34 0 0.00 24 5 17.24 - - - ZNF425 0 genome.wustl.edu 37 7 148815337 148815337 + Missense_Mutation SNP T T C TCGA-D8-A27I-01A-11D-A16D-09 TCGA-D8-A27I-10A-02D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47c0db0a-fc37-4fa0-832c-e67f089d3889 2e8da00b-a2d6-4240-8844-5ecbd238eb8c 7 148815337 148815337 T C SNP ZNF425 ENST00000378061 human ensembl 69_37n -1 known missense c.122 p.N41S 0.969 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 112 1 0.88 138 35 19.89 - - -