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 ADAM12 0 genome.wustl.edu 37 10 127734625 127734625 + Missense_Mutation SNP C C T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 10 127734625 127734625 C T SNP ADAM12 ENST00000368679 human ensembl 69_37n -1 known missense c.2003 p.G668E 1.000 pfscan_EG-like_dom pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM12 HGNC ENSG00000148848 59 0 0.00 48 27 36.00 - - - AFAP1L1 0 genome.wustl.edu 37 5 148709274 148709274 + Missense_Mutation SNP C C T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 5 148709274 148709274 C T SNP AFAP1L1 ENST00000296721 human ensembl 69_37n +1 known missense c.1856 p.A619V 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 56 0 0.00 38 24 38.71 - - - ANGPTL2 0 genome.wustl.edu 37 9 129870656 129870656 + Missense_Mutation SNP C C T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 9 129870656 129870656 C T SNP ANGPTL2 ENST00000373425 human ensembl 69_37n -1 known missense c.355 p.E119K 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL2 HGNC ENSG00000136859 23 0 0.00 9 5 35.71 - - - ATP2B2 0 genome.wustl.edu 37 3 10370591 10370591 + Silent SNP G G A TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 3 10370591 10370591 G A SNP ATP2B2 ENST00000352432 human ensembl 69_37n -1 known silent c.3639 p.I1213 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 131 0 0.00 56 39 41.05 - - - C3 0 genome.wustl.edu 37 19 6711025 6711025 + Missense_Mutation SNP C C A TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 19 6711025 6711025 C A SNP C3 ENST00000245907 human ensembl 69_37n -1 known missense c.1452 p.E484D 0.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 110 0 0.00 64 8 11.11 - - - CLDN22 0 genome.wustl.edu 37 4 184240759 184240759 + Missense_Mutation SNP G G T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 4 184240759 184240759 G T SNP CLDN22 ENST00000323319 human ensembl 69_37n -1 known missense c.613 p.Q205K 0.011 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN22 HGNC ENSG00000177300 108 0 0.00 17 37 68.52 - - - CRIPAK 0 genome.wustl.edu 37 4 1388797 1388797 + Frame_Shift_Del DEL C C - TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 4 1388797 1388797 C - DEL CRIPAK ENST00000324803 human ensembl 69_37n +1 known frame_shift_del c.498 p.P167fs 0.002 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 64 0 0.00 6 2 25.00 - - - CRIPAK 0 genome.wustl.edu 37 4 1388806 1388807 + Frame_Shift_Ins INS - - CA TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 4 1388806 1388807 - CA INS CRIPAK ENST00000324803 human ensembl 69_37n +1 known frame_shift_ins c.507_508 p.C171fs 0.000:0.001 smart_Post-SET_dom smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 42 0 0.00 4 2 33.33 - - - ELP4 0 genome.wustl.edu 37 11 31653874 31653874 + Missense_Mutation SNP G G C TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 11 31653874 31653874 G C SNP ELP4 ENST00000395934 human ensembl 69_37n +1 known missense c.849 p.K283N 0.559 pfam_Elongator_complex_protein_4 pfam_Elongator_complex_protein_4 - no_errors ELP4 HGNC ENSG00000109911 67 0 0.00 47 41 46.59 - - - FBN2 0 genome.wustl.edu 37 5 127597566 127597566 + Silent SNP C C T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 5 127597566 127597566 C T SNP FBN2 ENST00000262464 human ensembl 69_37n -1 known silent c.8226 p.G2742 1.000 pirsf_Fibrillin pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 80 0 0.00 42 41 49.40 - - - GLI2 0 genome.wustl.edu 37 2 121747069 121747070 + Frame_Shift_Ins INS - - A TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 2 121747069 121747070 - A INS GLI2 ENST00000361492 human ensembl 69_37n +1 known frame_shift_ins c.3579_3580 p.S1193fs 0.000:0.021 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 10 0 0.00 10 4 28.57 - - - KANSL3 0 genome.wustl.edu 37 2 97302834 97302834 + Silent SNP T T C TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 2 97302834 97302834 T C SNP KANSL3 ENST00000431828 human ensembl 69_37n -1 known silent c.39 p.S13 0.986 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 31 0 0.00 18 11 37.93 - - - LTBP2 0 genome.wustl.edu 37 14 74995708 74995708 + Missense_Mutation SNP C C T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 14 74995708 74995708 C T SNP LTBP2 ENST00000261978 human ensembl 69_37n -1 known missense c.2105 p.G702D 1.000 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 30 0 0.00 11 5 31.25 - - - MCTP1 0 genome.wustl.edu 37 5 94619756 94619756 + Missense_Mutation SNP C C A TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 5 94619756 94619756 C A SNP MCTP1 ENST00000515393 human ensembl 69_37n -1 known missense c.524 p.R175M 0.319 NULL pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 35 0 0.00 9 8 47.06 - - - MUC12 0 genome.wustl.edu 37 7 100643088 100643088 + Missense_Mutation SNP A A G TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 7 100643088 100643088 A G SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.9673 p.I3225V 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 27 0 0.00 42 6 12.50 - - - NIPAL2 0 genome.wustl.edu 37 8 99217462 99217463 + Frame_Shift_Del DEL AC AC - TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 8 99217462 99217463 AC - DEL NIPAL2 ENST00000341166 human ensembl 69_37n -1 known frame_shift_del c.668_667 p.V223fs 1.000:1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC ENSG00000104361 59 0 0.00 57 29 33.72 - - - NPAS3 0 genome.wustl.edu 37 14 34269262 34269262 + Silent SNP G G A TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 14 34269262 34269262 G A SNP NPAS3 ENST00000356141 human ensembl 69_37n +1 known silent c.1749 p.S583 0.991 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NPAS3 HGNC ENSG00000151322 14 0 0.00 5 4 44.44 - - - PHLDB2 0 genome.wustl.edu 37 3 111632438 111632438 + Missense_Mutation SNP G G T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 3 111632438 111632438 G T SNP PHLDB2 ENST00000393925 human ensembl 69_37n +1 known missense c.1608 p.R536S 0.991 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 71 0 0.00 53 23 30.26 - - - PPP1CA 0 genome.wustl.edu 37 11 67166579 67166579 + Silent SNP T T A TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 11 67166579 67166579 T A SNP PPP1CA ENST00000312989 human ensembl 69_37n -1 known silent c.612 p.T204 0.746 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CA HGNC ENSG00000172531 24 0 0.00 10 8 44.44 - - - PXDN 0 genome.wustl.edu 37 2 1670036 1670036 + Missense_Mutation SNP G G T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 2 1670036 1670036 G T SNP PXDN ENST00000252804 human ensembl 69_37n -1 known missense c.1241 p.A414E 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 56 0 0.00 32 4 11.11 - - - RBL1 0 genome.wustl.edu 37 20 35689643 35689643 + Silent SNP C C T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 20 35689643 35689643 C T SNP RBL1 ENST00000373664 human ensembl 69_37n -1 known silent c.1113 p.L371 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 86 0 0.00 39 28 41.79 - - - SEMA5B 0 genome.wustl.edu 37 3 122645475 122645475 + Missense_Mutation SNP G G T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 3 122645475 122645475 G T SNP SEMA5B ENST00000451055 human ensembl 69_37n -1 known missense c.1062 p.F354L 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 32 0 0.00 11 9 45.00 - - - SETD7 0 genome.wustl.edu 37 4 140454468 140454468 + Missense_Mutation SNP T T A TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 4 140454468 140454468 T A SNP SETD7 ENST00000274031 human ensembl 69_37n -1 known missense c.223 p.T75S 1.000 pfam_MORN,pirsf_Hist-Lys_N-MeTrfase_SET pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom - no_errors SETD7 HGNC ENSG00000145391 102 1 0.97 19 28 59.57 - - - SLC22A10 0 genome.wustl.edu 37 11 63071594 63071594 + Missense_Mutation SNP C C T TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 11 63071594 63071594 C T SNP SLC22A10 ENST00000332793 human ensembl 69_37n +1 known missense c.1300 p.R434C 0.506 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 143 0 0.00 145 31 17.61 - - - SQRDL 0 genome.wustl.edu 37 15 45954163 45954163 + Missense_Mutation SNP A A C TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 15 45954163 45954163 A C SNP SQRDL ENST00000260324 human ensembl 69_37n +1 known missense c.245 p.Y82S 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors SQRDL HGNC ENSG00000137767 84 0 0.00 71 21 22.83 - - - ST6GAL2 0 genome.wustl.edu 37 2 107423302 107423302 + Missense_Mutation SNP G G A TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 2 107423302 107423302 G A SNP ST6GAL2 ENST00000361803 human ensembl 69_37n -1 known missense c.118 p.R40C 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ST6GAL2 HGNC ENSG00000144057 39 0 0.00 24 10 29.41 - - - ZMYND8 0 genome.wustl.edu 37 20 45867567 45867569 + In_Frame_Del DEL TGC TGC - TCGA-D8-A1XG-01A-11D-A14G-09 TCGA-D8-A1XG-10A-01D-A14G-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 800ff536-a1d2-4213-b85e-7780851c6378 8e1c27de-7792-4b53-9e53-7da87ef325f7 20 45867567 45867569 TGC - DEL ZMYND8 ENST00000536340 human ensembl 69_37n -1 known in_frame_del c.2621_2619 p.Q874in_frame_del 0.997:0.999:0.981 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 14 0 0.00 2 2 50.00 - - -