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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source AKAP8 10270 genome.wustl.edu 37 19 15484149 15484149 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 15484149 15484149 G A SNP AKAP8 ENST00000269701 human ensembl 70_37 -1 known missense c.374 p.S125F 1.000 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ATP13A4 84239 genome.wustl.edu 37 3 193210717 193210717 + Silent SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 193210717 193210717 T C SNP ATP13A4 ENST00000342695 human ensembl 70_37 -1 known silent c.522 p.E174 0.999 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC C2orf71 388939 genome.wustl.edu 37 2 29294044 29294044 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 29294044 29294044 C T SNP C2orf71 ENST00000331664 human ensembl 70_37 -1 novel silent c.3084 p.T1028 0.000 NULL NULL - no_errors C2orf71 HGNC CACNA1H 8912 genome.wustl.edu 37 16 1246002 1246002 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 1246002 1246002 C T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.622 p.R208C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC CCDC86 79080 genome.wustl.edu 37 11 60610305 60610305 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 60610305 60610305 G A SNP CCDC86 ENST00000227520 human ensembl 70_37 +1 known silent c.708 p.P236 0.012 NULL NULL - no_errors CCDC86 HGNC CDH11 1009 genome.wustl.edu 37 16 65006813 65006813 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 65006813 65006813 C T SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known missense c.1384 p.E462K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC CDH23 64072 genome.wustl.edu 37 10 73569598 73569598 + Missense_Mutation SNP G G T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 10 73569598 73569598 G T SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.8753 p.R2918L 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC CDX2 1045 genome.wustl.edu 37 13 28542887 28542887 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 13 28542887 28542887 G A SNP CDX2 ENST00000381020 human ensembl 70_37 -1 known missense c.257 p.A86V 0.075 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC CHD7 55636 genome.wustl.edu 37 8 61693596 61693596 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 8 61693596 61693596 C T SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.1703 p.P568L 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHST3 9469 genome.wustl.edu 37 10 73768164 73768164 + Missense_Mutation SNP G G T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 10 73768164 73768164 G T SNP CHST3 ENST00000373115 human ensembl 70_37 +1 known missense c.1375 p.A459S 0.031 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC CLK2 1196 genome.wustl.edu 37 1 155239279 155239279 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 155239279 155239279 C T SNP CLK2 ENST00000368361 human ensembl 70_37 -1 known silent c.399 p.S133 1.000 NULL 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 CLK2 HGNC CMYA5 202333 genome.wustl.edu 37 5 79025497 79025497 + Missense_Mutation SNP G G C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 79025497 79025497 G C SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.909 p.W303C 0.999 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC COL15A1 1306 genome.wustl.edu 37 9 101832135 101832135 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 101832135 101832135 C T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known silent c.4134 p.I1378 0.912 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC COL5A1 1289 genome.wustl.edu 37 9 137706730 137706730 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 137706730 137706730 G A SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.3994 p.D1332N 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC CREBZF 58487 genome.wustl.edu 37 11 85375525 85375525 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 85375525 85375525 G A SNP CREBZF ENST00000525639 human ensembl 70_37 -1 known missense c.395 p.S132L 1.000 NULL pfam_bZIP - no_errors CREBZF HGNC CRTAC1 55118 genome.wustl.edu 37 10 99770902 99770902 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 10 99770902 99770902 C T SNP CRTAC1 ENST00000370597 human ensembl 70_37 -1 known missense c.217 p.V73M 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd - no_errors CRTAC1 HGNC CSMD3 114788 genome.wustl.edu 37 8 113317096 113317096 + Nonsense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 8 113317096 113317096 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known nonsense c.8120 p.W2707* 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CTSK 1513 genome.wustl.edu 37 1 150772083 150772083 + Nonsense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 150772083 150772083 G A SNP CTSK ENST00000271651 human ensembl 70_37 -1 known nonsense c.721 p.R241* 0.249 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSK HGNC CXCR4 7852 genome.wustl.edu 37 2 136872366 136872366 + RNA SNP C C A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 136872366 136872366 C A SNP CXCR4 ENST00000466288 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CXCR4 HGNC CYP26C1 340665 genome.wustl.edu 37 10 94828206 94828206 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 10 94828206 94828206 C T SNP CYP26C1 ENST00000285949 human ensembl 70_37 +1 known missense c.1321 p.R441W 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP26C1 HGNC CYP4F2 8529 genome.wustl.edu 37 19 16000293 16000293 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 16000293 16000293 G A SNP CYP4F2 ENST00000221700 human ensembl 70_37 -1 known silent c.858 p.F286 0.221 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC CYR61 3491 genome.wustl.edu 37 1 86048260 86048260 + Missense_Mutation SNP A A T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 86048260 86048260 A T SNP CYR61 ENST00000451137 human ensembl 70_37 +1 known missense c.796 p.I266F 0.994 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CYR61 HGNC DCBLD2 131566 genome.wustl.edu 37 3 98518644 98518644 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 98518644 98518644 G A SNP DCBLD2 ENST00000326857 human ensembl 70_37 -1 known missense c.1942 p.H648Y 1.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC DGKI 9162 genome.wustl.edu 37 7 137148328 137148328 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 137148328 137148328 C T SNP DGKI ENST00000424189 human ensembl 70_37 -1 known missense c.2675 p.R892Q 0.999 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC DLEC1 9940 genome.wustl.edu 37 3 38158718 38158718 + Missense_Mutation SNP G G T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 38158718 38158718 G T SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known missense c.4325 p.G1442V 0.984 NULL superfamily_PapD-like - no_errors DLEC1 HGNC DSPP 1834 genome.wustl.edu 37 4 88537225 88537225 + Missense_Mutation SNP C C A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 88537225 88537225 C A SNP DSPP ENST00000282478 human ensembl 70_37 +1 known missense c.3411 p.D1137E 0.941 NULL NULL - no_errors DSPP HGNC EGFL7 51162 genome.wustl.edu 37 9 139564113 139564113 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 139564113 139564113 C T SNP EGFL7 ENST00000308874 human ensembl 70_37 +1 known missense c.253 p.R85C 0.674 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_EGF-like_Ca-bd,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL7 HGNC ENSG00000182356 0 genome.wustl.edu 37 22 18835754 18835754 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 22 18835754 18835754 G A SNP ENSG00000182356 ENST00000427789 human ensembl 70_37 +1 known missense c.1310 p.R437H 0.003 NULL NULL - no_errors AC008132.13 Clone_based_vega_gene ENSG00000210194 0 genome.wustl.edu 37 MT 14705 14705 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad MT 14705 14705 G A SNP ENSG00000210194 ENST00000387459 human ensembl 70_37 -1 known rna NULL NULL NULL - - - no_errors J01415.20 Clone_based_ensembl_gene ENSG00000225411 0 genome.wustl.edu 37 9 68400475 68400475 + RNA SNP T T G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 68400475 68400475 T G SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 0 genome.wustl.edu 37 9 68400511 68400511 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 68400511 68400511 G A SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000230092 0 genome.wustl.edu 37 1 741258 741258 + RNA SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 741258 741258 C T SNP ENSG00000230092 ENST00000447500 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-206L10.8 Clone_based_vega_gene ENSG00000241769 0 genome.wustl.edu 37 X 148615669 148615669 + RNA SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad X 148615669 148615669 C T SNP ENSG00000241769 ENST00000431214 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AF011889.4 Clone_based_vega_gene ENSG00000243273 0 genome.wustl.edu 37 3 150608642 150608642 + RNA SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 150608642 150608642 C T SNP ENSG00000243273 ENST00000469268 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-166N6.2 Clone_based_vega_gene ENSG00000260628 0 genome.wustl.edu 37 16 31993404 31993404 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 31993404 31993404 G A SNP ENSG00000260628 ENST00000568570 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene EPB41 2035 genome.wustl.edu 37 1 29379717 29379717 + Nonsense_Mutation SNP A A T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 29379717 29379717 A T SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known nonsense c.1738 p.K580* 0.796 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC ERN1 2081 genome.wustl.edu 37 17 62149426 62149426 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 17 62149426 62149426 C T SNP ERN1 ENST00000433197 human ensembl 70_37 -1 known silent c.393 p.L131 1.000 superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN1 HGNC ERN1 2081 genome.wustl.edu 37 17 62152586 62152586 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 17 62152586 62152586 C T SNP ERN1 ENST00000433197 human ensembl 70_37 -1 known missense c.304 p.E102K 1.000 superfamily_Quinonprotein_ADH-like pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN1 HGNC ESPN 83715 genome.wustl.edu 37 1 6520730 6520730 + RNA SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 6520730 6520730 C G SNP ESPN ENST00000468561 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ESPN HGNC ESPN 83715 genome.wustl.edu 37 1 6521027 6521027 + RNA SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 6521027 6521027 C G SNP ESPN ENST00000468561 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors ESPN HGNC EVC2 132884 genome.wustl.edu 37 4 5624288 5624288 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 5624288 5624288 C T SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known missense c.2477 p.R826Q 0.925 NULL pfam_Limbin - no_errors EVC2 HGNC F11 2160 genome.wustl.edu 37 4 187201212 187201212 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 187201212 187201212 C T SNP F11 ENST00000403665 human ensembl 70_37 +1 known missense c.802 p.R268C 0.075 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC FAM96A 84191 genome.wustl.edu 37 15 64385878 64385878 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 15 64385878 64385878 G A SNP FAM96A ENST00000300030 human ensembl 70_37 -1 known silent c.90 p.P30 1.000 NULL pfam_DUF59 - no_errors FAM96A HGNC FBXW7 55294 genome.wustl.edu 37 4 153251907 153251907 + Nonsense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 153251907 153251907 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known nonsense c.1099 p.R367* 1.000 superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FOXD4L5 653427 genome.wustl.edu 37 9 70176944 70176944 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 70176944 70176944 C T SNP FOXD4L5 ENST00000377420 human ensembl 70_37 -1 known missense c.1040 p.R347Q 0.009 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC GAK 2580 genome.wustl.edu 37 4 870335 870335 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 870335 870335 G A SNP GAK ENST00000314167 human ensembl 70_37 -1 known silent c.2037 p.T679 0.743 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors GAK HGNC GDF5 8200 genome.wustl.edu 37 20 34022246 34022246 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 20 34022246 34022246 C T SNP GDF5 ENST00000374369 human ensembl 70_37 -1 known missense c.967 p.D323N 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC GJD2 57369 genome.wustl.edu 37 15 35045326 35045326 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 15 35045326 35045326 G A SNP GJD2 ENST00000290374 human ensembl 70_37 -1 known missense c.319 p.R107C 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC GPLD1 2822 genome.wustl.edu 37 6 24447152 24447152 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 6 24447152 24447152 G A SNP GPLD1 ENST00000230036 human ensembl 70_37 -1 known silent c.1734 p.S578 0.884 smart_Int_alpha_beta-p pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC GPR35 2859 genome.wustl.edu 37 2 241569402 241569402 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 241569402 241569402 C T SNP GPR35 ENST00000438013 human ensembl 70_37 +1 known silent c.126 p.S42 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC HAS1 3036 genome.wustl.edu 37 19 52222789 52222789 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 52222789 52222789 C T SNP HAS1 ENST00000222115 human ensembl 70_37 -1 known silent c.372 p.P124 0.459 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC HIST1H3J 8356 genome.wustl.edu 37 6 27858549 27858549 + Missense_Mutation SNP C C A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 6 27858549 27858549 C A SNP HIST1H3J ENST00000359303 human ensembl 70_37 -1 known missense c.22 p.A8S 0.998 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3J HGNC HTT 3064 genome.wustl.edu 37 4 3122961 3122961 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 3122961 3122961 G A SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.1075 p.E359K 1.000 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC IRX5 10265 genome.wustl.edu 37 16 54967571 54967571 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 54967571 54967571 C T SNP IRX5 ENST00000394636 human ensembl 70_37 +1 known missense c.1238 p.T413M 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX5 HGNC ISL1 3670 genome.wustl.edu 37 5 50683468 50683468 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 50683468 50683468 G A SNP ISL1 ENST00000230658 human ensembl 70_37 +1 known silent c.363 p.A121 0.997 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL1 HGNC KDM4A 9682 genome.wustl.edu 37 1 44132112 44132112 + RNA SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 44132112 44132112 C G SNP KDM4A ENST00000472265 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KDM4A HGNC KNDC1 85442 genome.wustl.edu 37 10 135024981 135024981 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 10 135024981 135024981 G A SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known missense c.3970 p.V1324I 0.993 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC KPNA1 3836 genome.wustl.edu 37 3 122145813 122145813 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 122145813 122145813 G A SNP KPNA1 ENST00000466923 human ensembl 70_37 -1 known rna NULL NULL 0.927 - - - no_errors KPNA1 HGNC LAMA3 3909 genome.wustl.edu 37 18 21453031 21453031 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 18 21453031 21453031 C T SNP LAMA3 ENST00000269217 human ensembl 70_37 +1 known missense c.23 p.S8L 0.001 NULL pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_STAT_TF_coiled-coil,smart_EGF_laminin,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA3 HGNC LMTK2 22853 genome.wustl.edu 37 7 97833404 97833404 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 97833404 97833404 G A SNP LMTK2 ENST00000297293 human ensembl 70_37 +1 known silent c.4389 p.P1463 0.003 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC LOC728643 728643 genome.wustl.edu 37 16 51680381 51680381 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 51680381 51680381 G A SNP LOC728643 ENST00000562726 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors CTD-2119F7.2 Clone_based_vega_gene MCF2L 23263 genome.wustl.edu 37 13 113708711 113708711 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 13 113708711 113708711 G A SNP MCF2L ENST00000494043 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MCF2L HGNC MRPL21 219927 genome.wustl.edu 37 11 68671240 68671240 + Silent SNP C C A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 68671240 68671240 C A SNP MRPL21 ENST00000362034 human ensembl 70_37 -1 known silent c.39 p.L13 0.882 NULL pfam_Ribosomal_L21,tigrfam_Ribosomal_L21 - no_errors MRPL21 HGNC MT-CO2 4513 genome.wustl.edu 37 MT 8119 8119 + Silent SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad MT 8119 8119 T C SNP MT-CO2 ENST00000361739 human ensembl 70_37 +1 known silent c.534 p.R178 NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC MTIF2 4528 genome.wustl.edu 37 2 55470638 55470638 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 55470638 55470638 C T SNP MTIF2 ENST00000263629 human ensembl 70_37 -1 known missense c.1478 p.R493Q 0.678 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC MTMR7 9108 genome.wustl.edu 37 8 17188743 17188743 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 8 17188743 17188743 C T SNP MTMR7 ENST00000180173 human ensembl 70_37 -1 known missense c.781 p.D261N 1.000 pfam_Myotub-related pfam_Myotub-related,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR7 HGNC MTND1P15 100288998 genome.wustl.edu 37 17 22024729 22024729 + RNA SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 17 22024729 22024729 T C SNP MTND1P15 ENST00000579693 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MTND1P15 HGNC MYH7B 57644 genome.wustl.edu 37 20 33568502 33568502 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 20 33568502 33568502 C T SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel missense c.590 p.A197V 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC NAT14 57106 genome.wustl.edu 37 19 55997216 55997216 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 55997216 55997216 C T SNP NAT14 ENST00000591590 human ensembl 70_37 +1 putative silent c.141 p.H47 0.007 NULL NULL - no_errors NAT14 HGNC NHSL1 57224 genome.wustl.edu 37 6 138745300 138745300 + Missense_Mutation SNP G G T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 6 138745300 138745300 G T SNP NHSL1 ENST00000427025 human ensembl 70_37 -1 known missense c.4751 p.P1584H 0.000 NULL NULL - no_errors NHSL1 HGNC NIPBL 25836 genome.wustl.edu 37 5 36955658 36955658 + Missense_Mutation SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 36955658 36955658 T C SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.149 p.V50A 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC OR1L4 254973 genome.wustl.edu 37 9 125487177 125487177 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 125487177 125487177 G A SNP OR1L4 ENST00000259466 human ensembl 70_37 +1 known silent c.909 p.K303 0.089 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC OR4C5 79346 genome.wustl.edu 37 11 48387825 48387825 + Missense_Mutation SNP T T G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 48387825 48387825 T G SNP OR4C5 ENST00000319813 human ensembl 70_37 -1 known missense c.193 p.I65L 0.945 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC OR4C5 79346 genome.wustl.edu 37 11 48387833 48387833 + Missense_Mutation SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 48387833 48387833 T C SNP OR4C5 ENST00000319813 human ensembl 70_37 -1 known missense c.185 p.D62G 0.972 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC OR4C5 79346 genome.wustl.edu 37 11 48387850 48387850 + Nonsense_Mutation SNP G G T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 48387850 48387850 G T SNP OR4C5 ENST00000319813 human ensembl 70_37 -1 known nonsense c.168 p.Y56* 0.968 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ORMDL2 29095 genome.wustl.edu 37 12 56213206 56213206 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 12 56213206 56213206 C T SNP ORMDL2 ENST00000243045 human ensembl 70_37 +1 known silent c.255 p.H85 1.000 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL2 HGNC PCBP3 54039 genome.wustl.edu 37 21 47333873 47333873 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 21 47333873 47333873 G A SNP PCBP3 ENST00000400314 human ensembl 70_37 +1 known silent c.609 p.P203 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC PCDHB14 56122 genome.wustl.edu 37 5 140605131 140605131 + Missense_Mutation SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 140605131 140605131 C G SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known missense c.2054 p.S685C 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC PCDHGA5 56110 genome.wustl.edu 37 5 140745349 140745349 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 140745349 140745349 C T SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known silent c.1452 p.N484 0.076 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 PCDHGA5 HGNC PEAR1 375033 genome.wustl.edu 37 1 156875139 156875139 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 156875139 156875139 G A SNP PEAR1 ENST00000292357 human ensembl 70_37 +1 known missense c.230 p.R77H 0.990 superfamily_Growth_fac_rcpt,pfscan_EMI_domain pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC PHLPP2 23035 genome.wustl.edu 37 16 71697826 71697826 + Missense_Mutation SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 71697826 71697826 T C SNP PHLPP2 ENST00000356272 human ensembl 70_37 -1 known missense c.1961 p.N654S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like - no_errors PHLPP2 HGNC PLIN2 123 genome.wustl.edu 37 9 19108575 19108575 + RNA SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 19108575 19108575 C T SNP PLIN2 ENST00000464326 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLIN2 HGNC PLXNA4 91584 genome.wustl.edu 37 7 132192823 132192823 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 132192823 132192823 C T SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known silent c.630 p.A210 0.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC PNPLA1 285848 genome.wustl.edu 37 6 36270034 36270034 + Frame_Shift_Del DEL C C - TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 6 36270034 36270034 C - DEL PNPLA1 ENST00000457797 human ensembl 70_37 +1 known frame_shift_del c.1175 p.P393fs 0.000 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC PTCH1 5727 genome.wustl.edu 37 9 98211363 98211363 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 98211363 98211363 G A SNP PTCH1 ENST00000331920 human ensembl 70_37 -1 known silent c.3792 p.F1264 0.950 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC QARS 5859 genome.wustl.edu 37 3 49137041 49137041 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 49137041 49137041 G A SNP QARS ENST00000306125 human ensembl 70_37 -1 known silent c.1428 p.V476 0.779 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth_Ib pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib - no_errors QARS HGNC RBM6 10180 genome.wustl.edu 37 3 50005813 50005813 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 50005813 50005813 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.955 p.D319N 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC REEP6 92840 genome.wustl.edu 37 19 1496286 1496286 + Nonsense_Mutation SNP C C A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 1496286 1496286 C A SNP REEP6 ENST00000233596 human ensembl 70_37 +1 known nonsense c.351 p.C117* 0.979 pfam_TB2_DP1_HVA22 pfam_TB2_DP1_HVA22 - no_errors REEP6 HGNC RNF10 9921 genome.wustl.edu 37 12 121014518 121014518 + RNA SNP T T G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 12 121014518 121014518 T G SNP RNF10 ENST00000535470 human ensembl 70_37 +1 known rna NULL NULL 0.180 - - - no_errors RNF10 HGNC RPS6KA6 27330 genome.wustl.edu 37 X 83372122 83372122 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad X 83372122 83372122 C T SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.895 p.E299K 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC SEMA5A 9037 genome.wustl.edu 37 5 9197373 9197373 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 9197373 9197373 G A SNP SEMA5A ENST00000382496 human ensembl 70_37 -1 known silent c.975 p.S325 0.763 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 SEMA5A HGNC SGSM1 129049 genome.wustl.edu 37 22 25297862 25297862 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 22 25297862 25297862 C T SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known silent c.2838 p.C946 0.244 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC SLC44A2 57153 genome.wustl.edu 37 19 10741799 10741799 + Missense_Mutation SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 10741799 10741799 C G SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known missense c.312 p.F104L 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC SRCIN1 80725 genome.wustl.edu 37 17 36719744 36719744 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 17 36719744 36719744 C T SNP SRCIN1 ENST00000264659 human ensembl 70_37 -1 known silent c.555 p.L185 1.000 pfam_AIP3_C pfam_AIP3_C - no_errors SRCIN1 HGNC STAG3L4 64940 genome.wustl.edu 37 7 66785110 66785110 + RNA SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 66785110 66785110 C T SNP STAG3L4 ENST00000416602 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors STAG3L4 HGNC TEP1 7011 genome.wustl.edu 37 14 20841447 20841447 + Nonsense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 14 20841447 20841447 G A SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known nonsense c.6796 p.Q2266* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC THBS3 7059 genome.wustl.edu 37 1 155166959 155166959 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 155166959 155166959 G A SNP THBS3 ENST00000368378 human ensembl 70_37 -1 known silent c.2545 p.L849 0.999 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS3 HGNC TMEM178B 100507421 genome.wustl.edu 37 7 141137413 141137413 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 141137413 141137413 C T SNP TMEM178B ENST00000565468 human ensembl 70_37 +1 putative missense c.502 p.R168C 1.000 NULL NULL - no_errors TMEM178B HGNC TRAIP 10293 genome.wustl.edu 37 3 49867119 49867119 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 49867119 49867119 G A SNP TRAIP ENST00000331456 human ensembl 70_37 -1 known silent c.1167 p.V389 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC TRIM11 81559 genome.wustl.edu 37 1 228588758 228588758 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 228588758 228588758 G A SNP TRIM11 ENST00000284551 human ensembl 70_37 -1 known silent c.642 p.G214 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC TRIM9 114088 genome.wustl.edu 37 14 51467500 51467500 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 14 51467500 51467500 G A SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known silent c.1353 p.N451 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC TRPC3 7222 genome.wustl.edu 37 4 122828660 122828660 + Missense_Mutation SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 122828660 122828660 C G SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known missense c.1855 p.V619L 0.993 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC TTN 7273 genome.wustl.edu 37 2 179567367 179567367 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 179567367 179567367 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.26515 p.R8839C 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBA4B 80086 genome.wustl.edu 37 2 220136719 220136719 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 220136719 220136719 G A SNP TUBA4B ENST00000473885 human ensembl 70_37 +1 known rna NULL NULL 0.899 - - - no_errors TUBA4B HGNC VPS39 23339 genome.wustl.edu 37 15 42454321 42454321 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 15 42454321 42454321 C T SNP VPS39 ENST00000348544 human ensembl 70_37 -1 known missense c.2402 p.R801H 1.000 pfam_VPS39/TGF_beta_rcpt-assoc_2 pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC VPS41 27072 genome.wustl.edu 37 7 38805239 38805239 + Missense_Mutation SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 38805239 38805239 T C SNP VPS41 ENST00000310301 human ensembl 70_37 -1 known missense c.1270 p.K424E 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC XPR1 9213 genome.wustl.edu 37 1 180853188 180853188 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 180853188 180853188 G A SNP XPR1 ENST00000367590 human ensembl 70_37 +1 known missense c.2077 p.E693K 1.000 NULL pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ZNF512B 57473 genome.wustl.edu 37 20 62595898 62595898 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 20 62595898 62595898 C T SNP ZNF512B ENST00000217130 human ensembl 70_37 -1 known silent c.1206 p.L402 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC