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 ABCA13 0 genome.wustl.edu 37 7 48450174 48450174 + Missense_Mutation SNP G G A TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 7 48450174 48450174 G A SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.12128 p.R4043H 0.469 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 92 0 0.00 20 8 28.57 - - - C2orf78 0 genome.wustl.edu 37 2 74043504 74043504 + Missense_Mutation SNP G G T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 2 74043504 74043504 G T SNP C2orf78 ENST00000409561 human ensembl 69_37n +1 novel missense c.2154 p.L718F 0.779 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 77 0 0.00 23 18 43.90 - - - CAST 0 genome.wustl.edu 37 5 96100942 96100942 + Nonsense_Mutation SNP C C T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 5 96100942 96100942 C T SNP CAST ENST00000484552 human ensembl 69_37n +1 known nonsense c.925 p.R309* 0.006 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CAST HGNC ENSG00000153113 99 0 0.00 37 20 35.09 - - - EPDR1 0 genome.wustl.edu 37 7 37960286 37960286 + Frame_Shift_Del DEL A A - TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 7 37960286 37960286 A - DEL EPDR1 ENST00000559325 human ensembl 69_37n +1 known frame_shift_del c.105 p.A36fs 0.042 NULL pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 27 0 0.00 18 4 17.39 - - - FAM47C 0 genome.wustl.edu 37 X 37027408 37027408 + Missense_Mutation SNP G G C TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 X 37027408 37027408 G C SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.925 p.E309Q 0.940 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 120 0 0.00 28 12 30.00 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685826 23685828 + In_Frame_Del DEL TCT TCT - TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 15 23685826 23685828 TCT - DEL GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative in_frame_del c.1796_1794 p.E598in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 23 0 0.00 18 5 21.74 - - - GXYLT1 0 genome.wustl.edu 37 12 42499714 42499714 + Missense_Mutation SNP T T C TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 12 42499714 42499714 T C SNP GXYLT1 ENST00000398675 human ensembl 69_37n -1 known missense c.770 p.N257S 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 104 0 0.00 38 11 22.45 - - - IGHA1 0 genome.wustl.edu 37 14 106173790 106173790 + Silent SNP A A G TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 14 106173790 106173790 A G SNP IGHA1 ENST00000390547 human ensembl 69_37n -1 known silent c.777 p.D259 0.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHA1 HGNC ENSG00000211895 8 0 0.00 28 17 37.78 - - - MST1P9 0 genome.wustl.edu 37 1 17086940 17086941 + Frame_Shift_Del DEL AC AC - TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 1 17086940 17086941 AC - DEL MST1P9 ENST00000334998 human ensembl 69_37n -1 known frame_shift_del c.384_383 p.R128fs 0.998:1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 53 0 0.00 9 6 40.00 - - - MTMR4 0 genome.wustl.edu 37 17 56582889 56582889 + Silent SNP G G T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 17 56582889 56582889 G T SNP MTMR4 ENST00000323456 human ensembl 69_37n -1 known silent c.1047 p.I349 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR4 HGNC ENSG00000108389 48 0 0.00 33 4 10.81 - - - NCOA6 0 genome.wustl.edu 37 20 33328692 33328692 + Missense_Mutation SNP T T C TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 20 33328692 33328692 T C SNP NCOA6 ENST00000359003 human ensembl 69_37n -1 known missense c.5368 p.T1790A 0.948 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 37 0 0.00 31 12 27.91 - - - NLRP3 0 genome.wustl.edu 37 1 247582326 247582326 + Missense_Mutation SNP C C T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 1 247582326 247582326 C T SNP NLRP3 ENST00000336119 human ensembl 69_37n +1 known missense c.230 p.A77V 0.003 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 56 0 0.00 28 5 15.15 - - - PAFAH1B1 0 genome.wustl.edu 37 17 2573487 2573487 + Nonsense_Mutation SNP C C T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 17 2573487 2573487 C T SNP PAFAH1B1 ENST00000397195 human ensembl 69_37n +1 known nonsense c.430 p.R144* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 51 0 0.00 35 17 32.69 - - - PCDHGB4 0 genome.wustl.edu 37 5 140769310 140769310 + Missense_Mutation SNP G G A TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 5 140769310 140769310 G A SNP PCDHGB4 ENST00000519479 human ensembl 69_37n +1 known missense c.1859 p.R620H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 24 0 0.00 14 7 33.33 - - - PDZD2 0 genome.wustl.edu 37 5 32088636 32088636 + Missense_Mutation SNP A A C TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 5 32088636 32088636 A C SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known missense c.5082 p.E1694D 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 29 0 0.00 22 14 38.89 - - - PLK2 0 genome.wustl.edu 37 5 57751415 57751415 + Missense_Mutation SNP C C G TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 5 57751415 57751415 C G SNP PLK2 ENST00000274289 human ensembl 69_37n -1 known missense c.1576 p.G526R 1.000 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK2 HGNC ENSG00000145632 32 0 0.00 16 4 20.00 - - - PTH2 0 genome.wustl.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 19 49926531 49926533 CAG - DEL PTH2 ENST00000270631 human ensembl 69_37n -1 known in_frame_del c.66_64 p.L22in_frame_del 0.016:0.132:0.132 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 53 0 0.00 16 2 11.11 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037842 10037842 + RNA SNP A A G TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 Y 10037842 10037842 A G SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 11 0 0.00 15 8 34.78 - - - RRP12 0 genome.wustl.edu 37 10 99132555 99132555 + Silent SNP C C T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 10 99132555 99132555 C T SNP RRP12 ENST00000370992 human ensembl 69_37n -1 known silent c.2187 p.V729 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 31 0 0.00 30 10 25.00 - - - SEPT12 0 genome.wustl.edu 37 16 4829725 4829725 + Silent SNP G G A TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 16 4829725 4829725 G A SNP SEPT12 ENST00000268231 human ensembl 69_37n -1 known silent c.789 p.V263 0.995 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 49 0 0.00 23 10 30.30 - - - SERPINE1 0 genome.wustl.edu 37 7 100771746 100771746 + Silent SNP G G T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 7 100771746 100771746 G T SNP SERPINE1 ENST00000223095 human ensembl 69_37n +1 known silent c.72 p.V24 0.000 superfamily_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINE1 HGNC ENSG00000106366 135 0 0.00 33 14 29.79 - - - SFI1 0 genome.wustl.edu 37 22 31953042 31953043 + Frame_Shift_Ins INS - - A TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 22 31953042 31953043 - A INS SFI1 ENST00000400288 human ensembl 69_37n +1 known frame_shift_ins c.659_660 p.R221fs 0.047:0.041 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 24 0 0.00 16 3 15.79 - - - SGSH 0 genome.wustl.edu 37 17 78185893 78185893 + Missense_Mutation SNP C C A TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 17 78185893 78185893 C A SNP SGSH ENST00000326317 human ensembl 69_37n -1 known missense c.926 p.S309I 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors SGSH HGNC ENSG00000181523 14 0 0.00 23 9 28.12 - - - SHANK1 0 genome.wustl.edu 37 19 51165693 51165693 + Silent SNP G G A TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 19 51165693 51165693 G A SNP SHANK1 ENST00000391814 human ensembl 69_37n -1 known silent c.6039 p.P2013 0.965 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 31 0 0.00 13 5 27.78 - - - SYNE2 0 genome.wustl.edu 37 14 64635628 64635628 + Missense_Mutation SNP A A T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 14 64635628 64635628 A T SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.16939 p.I5647F 0.987 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 51 0 0.00 36 8 18.18 - - - SYT5 0 genome.wustl.edu 37 19 55687114 55687114 + Missense_Mutation SNP G G A TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 19 55687114 55687114 G A SNP SYT5 ENST00000354308 human ensembl 69_37n -1 known missense c.503 p.T168M 0.991 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 161 0 0.00 21 9 30.00 - - - THBS4 0 genome.wustl.edu 37 5 79374937 79374937 + Silent SNP C C T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 5 79374937 79374937 C T SNP THBS4 ENST00000350881 human ensembl 69_37n +1 known silent c.2367 p.T789 0.278 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 64 0 0.00 32 6 15.79 - - - THSD7B 0 genome.wustl.edu 37 2 138033556 138033556 + Silent SNP G G A TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 2 138033556 138033556 G A SNP THSD7B ENST00000272643 human ensembl 69_37n +1 known silent c.2460 p.T820 0.219 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 81 0 0.00 28 16 36.36 - - - ZMYM3 0 genome.wustl.edu 37 X 70464640 70464640 + Silent SNP C C T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 X 70464640 70464640 C T SNP ZMYM3 ENST00000373988 human ensembl 69_37n -1 known silent c.3117 p.K1039 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 124 0 0.00 11 8 42.11 - - - ZNF483 0 genome.wustl.edu 37 9 114293154 114293154 + Splice_Site SNP G G C TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78c3c787-5731-4c38-8d7a-e5b503b11c36 66580041-7e6c-4467-9116-d96049f2ab59 9 114293154 114293154 G C SNP ZNF483 ENST00000309235 human ensembl 69_37n +1 known splice_site c.413-1 e2-1 0.161 - - - no_errors ZNF483 HGNC ENSG00000173258 81 0 0.00 21 11 34.38 - - -