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 ABCA13 154664 genome.wustl.edu 37 7 48312496 48312496 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 48312496 48312496 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.3233 p.S1078F 0.666 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCA7 10347 genome.wustl.edu 37 19 1053488 1053488 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 1053488 1053488 G A SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known silent c.3381 p.L1127 0.999 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ABCB1 5243 genome.wustl.edu 37 7 87179871 87179871 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 87179871 87179871 C T SNP ABCB1 ENST00000265724 human ensembl 70_37 -1 known silent c.1137 p.S379 0.052 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ABCB5 340273 genome.wustl.edu 37 7 20762743 20762743 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 20762743 20762743 G C SNP ABCB5 ENST00000258738 human ensembl 70_37 +1 known silent c.1191 p.L397 0.554 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ABCC9 10060 genome.wustl.edu 37 12 21997453 21997453 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 21997453 21997453 G A SNP ABCC9 ENST00000261200 human ensembl 70_37 -1 known silent c.3279 p.L1093 0.989 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ABCG5 64240 genome.wustl.edu 37 2 44051059 44051059 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 44051059 44051059 C T SNP ABCG5 ENST00000260645 human ensembl 70_37 -1 known silent c.1317 p.V439 0.813 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ABHD15 116236 genome.wustl.edu 37 17 27889580 27889580 + Nonstop_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 27889580 27889580 C G SNP ABHD15 ENST00000307201 human ensembl 70_37 -1 known nonstop c.1406 p.*469S 1.000 NULL pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ABL1 25 genome.wustl.edu 37 9 133750392 133750392 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 133750392 133750392 C G SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known missense c.1280 p.P427R 1.000 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 pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ACACA 31 genome.wustl.edu 37 17 35687173 35687173 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 35687173 35687173 G A SNP ACACA ENST00000353139 human ensembl 70_37 -1 known missense c.278 p.S93L 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ACADVL 37 genome.wustl.edu 37 17 7128316 7128316 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 7128316 7128316 C G SNP ACADVL ENST00000356839 human ensembl 70_37 +1 known missense c.1868 p.S623C 0.995 NULL pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ACIN1 22985 genome.wustl.edu 37 14 23528476 23528476 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 23528476 23528476 C T SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known missense c.3907 p.D1303N 0.982 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ACPT 93650 genome.wustl.edu 37 19 51298186 51298186 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 51298186 51298186 C T SNP ACPT ENST00000270594 human ensembl 70_37 +1 known missense c.851 p.S284F 0.990 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ACRC 93953 genome.wustl.edu 37 X 70828885 70828885 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 70828885 70828885 C G SNP ACRC ENST00000373695 human ensembl 70_37 +1 known missense c.1529 p.S510C 0.149 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ACSS3 79611 genome.wustl.edu 37 12 81627245 81627245 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 81627245 81627245 G A SNP ACSS3 ENST00000548058 human ensembl 70_37 +1 known missense c.1714 p.E572K 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ADAD2 161931 genome.wustl.edu 37 16 84229448 84229448 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 84229448 84229448 C T SNP ADAD2 ENST00000268624 human ensembl 70_37 +1 known silent c.1326 p.L442 0.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD2 HGNC ADAM15 8751 genome.wustl.edu 37 1 155028479 155028479 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 155028479 155028479 G A SNP ADAM15 ENST00000470779 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ADAM15 HGNC ADAMTS1 9510 genome.wustl.edu 37 21 28210520 28210520 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 28210520 28210520 G A SNP ADAMTS1 ENST00000284984 human ensembl 70_37 -1 known missense c.2282 p.S761F 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ADAMTS12 81792 genome.wustl.edu 37 5 33616032 33616032 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 33616032 33616032 C T SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known silent c.2289 p.G763 0.929 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ADAMTS16 170690 genome.wustl.edu 37 5 5140861 5140861 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 5140861 5140861 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.157 p.G53S 0.005 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247013291 247013291 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 247013291 247013291 C G SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.6044 p.R2015T 0.007 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ALKBH5 54890 genome.wustl.edu 37 17 18087692 18087692 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 18087692 18087692 C T SNP ALKBH5 ENST00000399138 human ensembl 70_37 +1 known silent c.135 p.A45 0.872 NULL NULL - no_errors ALKBH5 HGNC ALPK3 57538 genome.wustl.edu 37 15 85383341 85383341 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 85383341 85383341 C T SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known silent c.1437 p.N479 0.828 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC AMOT 154796 genome.wustl.edu 37 X 112058936 112058936 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 112058936 112058936 G A SNP AMOT ENST00000371959 human ensembl 70_37 -1 known missense c.1042 p.H348Y 0.981 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ANKLE2 23141 genome.wustl.edu 37 12 133306407 133306407 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 133306407 133306407 C T SNP ANKLE2 ENST00000357997 human ensembl 70_37 -1 known missense c.2341 p.D781N 0.029 NULL pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM - no_errors ANKLE2 HGNC AP2A2 161 genome.wustl.edu 37 11 1008096 1008096 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 1008096 1008096 C G SNP AP2A2 ENST00000332231 human ensembl 70_37 +1 known missense c.2384 p.S795C 0.044 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC APEX1 328 genome.wustl.edu 37 14 20925478 20925478 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 20925478 20925478 C G SNP APEX1 ENST00000216714 human ensembl 70_37 +1 known silent c.768 p.L256 0.635 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX1 HGNC APOC1 341 genome.wustl.edu 37 19 45419568 45419568 + Silent SNP T T C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 45419568 45419568 T C SNP APOC1 ENST00000252491 human ensembl 70_37 +1 known silent c.180 p.L60 0.000 pfam_ApoC-I pfam_ApoC-I - no_errors APOC1 HGNC ARHGAP35 2909 genome.wustl.edu 37 19 47425167 47425167 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 47425167 47425167 C G SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.3235 p.Q1079E 0.047 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ARHGEF9 23229 genome.wustl.edu 37 X 62944444 62944444 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 62944444 62944444 C T SNP ARHGEF9 ENST00000253401 human ensembl 70_37 -1 known missense c.157 p.E53K 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ARID1A 8289 genome.wustl.edu 37 1 27092778 27092778 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 27092778 27092778 G A SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known silent c.2799 p.G933 0.980 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ASAH2 56624 genome.wustl.edu 37 10 52005193 52005193 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 52005193 52005193 G A SNP ASAH2 ENST00000395526 human ensembl 70_37 -1 known missense c.149 p.S50L 0.000 NULL pfam_Ceramidase_alk - no_errors ASAH2 HGNC ATP6AP1L 92270 genome.wustl.edu 37 5 81614027 81614027 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 81614027 81614027 C T SNP ATP6AP1L ENST00000380167 human ensembl 70_37 +1 known nonsense c.583 p.R195* 0.000 NULL NULL - no_errors ATP6AP1L HGNC ATRN 8455 genome.wustl.edu 37 20 3605170 3605170 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 3605170 3605170 C T SNP ATRN ENST00000262919 human ensembl 70_37 +1 known nonsense c.3814 p.Q1272* 1.000 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC BAIAP2L1 55971 genome.wustl.edu 37 7 97939870 97939870 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 97939870 97939870 G A SNP BAIAP2L1 ENST00000005260 human ensembl 70_37 -1 known missense c.842 p.S281L 0.973 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC BANK1 55024 genome.wustl.edu 37 4 102946642 102946642 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 102946642 102946642 G A SNP BANK1 ENST00000322953 human ensembl 70_37 +1 known missense c.1570 p.E524K 0.300 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC BCKDHA 593 genome.wustl.edu 37 19 41916713 41916713 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 41916713 41916713 G C SNP BCKDHA ENST00000595085 human ensembl 70_37 +1 known missense c.382 p.D128H 1.000 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC BCL9 607 genome.wustl.edu 37 1 147086292 147086292 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 147086292 147086292 C G SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known nonsense c.437 p.S146* 0.997 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC BCR 613 genome.wustl.edu 37 22 23637246 23637246 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 23637246 23637246 G A SNP BCR ENST00000305877 human ensembl 70_37 +1 known silent c.2916 p.L972 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC BIN2 51411 genome.wustl.edu 37 12 51686023 51686023 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 51686023 51686023 C T SNP BIN2 ENST00000267012 human ensembl 70_37 -1 known silent c.867 p.E289 0.059 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC BMP4 652 genome.wustl.edu 37 14 54418628 54418628 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 54418628 54418628 C G SNP BMP4 ENST00000245451 human ensembl 70_37 -1 known missense c.313 p.E105Q 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC BSG 682 genome.wustl.edu 37 19 572634 572634 + RNA SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 572634 572634 C A SNP BSG ENST00000590218 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors BSG HGNC BSN 8927 genome.wustl.edu 37 3 49691094 49691094 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 49691094 49691094 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.4105 p.E1369K 0.731 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC C10orf131 100127889 genome.wustl.edu 37 10 97684091 97684091 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 97684091 97684091 C G SNP C10orf131 ENST00000371202 human ensembl 70_37 +1 known missense c.82 p.Q28E 0.961 NULL NULL - no_errors C10orf131 HGNC C10orf2 56652 genome.wustl.edu 37 10 102753198 102753198 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 102753198 102753198 G A SNP C10orf2 ENST00000311916 human ensembl 70_37 +1 known silent c.1986 p.Q662 0.955 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC C12orf55 144535 genome.wustl.edu 37 12 97051825 97051825 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 97051825 97051825 C G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.541 p.Q181E 1.000 NULL NULL - no_errors C12orf55 HGNC C14orf166 51637 genome.wustl.edu 37 14 52458093 52458093 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 52458093 52458093 C G SNP C14orf166 ENST00000261700 human ensembl 70_37 +1 known nonsense c.120 p.Y40* 1.000 pfam_UPF0568 pfam_UPF0568 - no_errors C14orf166 HGNC C17orf59 54785 genome.wustl.edu 37 17 8093446 8093446 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 8093446 8093446 G A SNP C17orf59 ENST00000389017 human ensembl 70_37 -1 known missense c.13 p.R5W 0.969 NULL pfam_DUF2365 - no_errors C17orf59 HGNC C21orf58 54058 genome.wustl.edu 37 21 47734872 47734872 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 47734872 47734872 C G SNP C21orf58 ENST00000397679 human ensembl 70_37 -1 novel missense c.49 p.E17Q 0.000 NULL NULL - no_errors C21orf58 HGNC C2CD4D 100191040 genome.wustl.edu 37 1 151810551 151810551 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 151810551 151810551 C T SNP C2CD4D ENST00000454109 human ensembl 70_37 -1 known silent c.915 p.L305 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors C2CD4D HGNC C9orf106 414318 genome.wustl.edu 37 9 132084251 132084251 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 132084251 132084251 C T SNP C9orf106 ENST00000316786 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C9orf106 HGNC CACNA1F 778 genome.wustl.edu 37 X 49088168 49088168 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 49088168 49088168 G A SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.247 p.R83W 0.739 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC CACNA1H 8912 genome.wustl.edu 37 16 1258192 1258192 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 1258192 1258192 G T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.3334 p.D1112Y 0.958 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC CAPN13 92291 genome.wustl.edu 37 2 30980990 30980990 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 30980990 30980990 C T SNP CAPN13 ENST00000295055 human ensembl 70_37 -1 known missense c.788 p.R263K 0.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC CAPRIN2 65981 genome.wustl.edu 37 12 30882050 30882050 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 30882050 30882050 G A SNP CAPRIN2 ENST00000251071 human ensembl 70_37 -1 known silent c.1314 p.S438 0.598 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC CASP8AP2 9994 genome.wustl.edu 37 6 90576285 90576285 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 90576285 90576285 G A SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 0.020 - - - no_errors CASP8AP2 HGNC CASP8AP2 9994 genome.wustl.edu 37 6 90576585 90576585 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 90576585 90576585 G A SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 0.020 - - - no_errors CASP8AP2 HGNC CATSPERD 257062 genome.wustl.edu 37 19 5733954 5733954 + Nonsense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 5733954 5733954 G T SNP CATSPERD ENST00000381624 human ensembl 70_37 +1 known nonsense c.364 p.E122* 0.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC CCDC160 347475 genome.wustl.edu 37 X 133379619 133379619 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 133379619 133379619 G A SNP CCDC160 ENST00000370809 human ensembl 70_37 +1 known missense c.789 p.M263I 0.984 NULL NULL - no_errors CCDC160 HGNC CCDC73 493860 genome.wustl.edu 37 11 32697502 32697502 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 32697502 32697502 C G SNP CCDC73 ENST00000335185 human ensembl 70_37 -1 known missense c.495 p.E165D 1.000 NULL NULL - no_errors CCDC73 HGNC CCDC85C 317762 genome.wustl.edu 37 14 100002419 100002419 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 100002419 100002419 G A SNP CCDC85C ENST00000380243 human ensembl 70_37 -1 known missense c.800 p.S267L 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85C HGNC CCNB3 85417 genome.wustl.edu 37 X 50054313 50054313 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 50054313 50054313 C G SNP CCNB3 ENST00000276014 human ensembl 70_37 +1 known missense c.3144 p.F1048L 0.001 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC CDH11 1009 genome.wustl.edu 37 16 64981644 64981644 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 64981644 64981644 C T SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known silent c.2253 p.V751 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC CDH20 28316 genome.wustl.edu 37 18 59217360 59217360 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 59217360 59217360 G A SNP CDH20 ENST00000262717 human ensembl 70_37 +1 known missense c.1798 p.D600N 0.006 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC CDHR1 92211 genome.wustl.edu 37 10 85970835 85970835 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 85970835 85970835 G A SNP CDHR1 ENST00000372117 human ensembl 70_37 +1 known missense c.1399 p.D467N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC CDK12 51755 genome.wustl.edu 37 17 37687065 37687065 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 37687065 37687065 G C SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.3969 p.L1323F 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 CDK12 HGNC CDK6 1021 genome.wustl.edu 37 7 92462443 92462443 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 92462443 92462443 C T SNP CDK6 ENST00000265734 human ensembl 70_37 -1 known silent c.195 p.L65 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,pfscan_Prot_kinase_cat_dom 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 CDK6 HGNC CDKL5 6792 genome.wustl.edu 37 X 18668690 18668690 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 18668690 18668690 C T SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known silent c.2958 p.F986 0.001 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 CDKL5 HGNC CELSR3 1951 genome.wustl.edu 37 3 48678853 48678853 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 48678853 48678853 C T SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known missense c.8944 p.D2982N 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC CENPBD1 92806 genome.wustl.edu 37 16 90038052 90038052 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 90038052 90038052 C T SNP CENPBD1 ENST00000314994 human ensembl 70_37 -1 known silent c.279 p.L93 0.002 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors CENPBD1 HGNC CEP85L 387119 genome.wustl.edu 37 6 118786573 118786573 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 118786573 118786573 G C SNP CEP85L ENST00000368488 human ensembl 70_37 -1 known missense c.2422 p.Q808E 1.000 NULL NULL - no_errors CEP85L HGNC CERK 64781 genome.wustl.edu 37 22 47083041 47083041 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 47083041 47083041 G A SNP CERK ENST00000216264 human ensembl 70_37 -1 known missense c.1604 p.S535L 0.000 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC CFH 3075 genome.wustl.edu 37 1 196711155 196711155 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 196711155 196711155 G A SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.3107 p.R1036K 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC CHD3 1107 genome.wustl.edu 37 17 7802458 7802458 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 7802458 7802458 G A SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.2281 p.D761N 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC CIZ1 25792 genome.wustl.edu 37 9 130940030 130940030 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 130940030 130940030 C T SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known missense c.1633 p.G545R 0.996 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC CLASP1 23332 genome.wustl.edu 37 2 122182816 122182816 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 122182816 122182816 G A SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known missense c.2111 p.S704F 0.759 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC CLCN6 1185 genome.wustl.edu 37 1 11886216 11886216 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 11886216 11886216 C G SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known missense c.652 p.Q218E 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl_channel-6 pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC CLK2 1196 genome.wustl.edu 37 1 155239497 155239497 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 155239497 155239497 C T SNP CLK2 ENST00000368361 human ensembl 70_37 -1 known missense c.181 p.D61N 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 CLP1 10978 genome.wustl.edu 37 11 57427146 57427146 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 57427146 57427146 C T SNP CLP1 ENST00000525602 human ensembl 70_37 +1 known silent c.198 p.F66 1.000 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1 - no_errors CLP1 HGNC CMKLR1 1240 genome.wustl.edu 37 12 108686038 108686038 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 108686038 108686038 G A SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known silent c.702 p.L234 0.131 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC CMYA5 202333 genome.wustl.edu 37 5 79029018 79029018 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 79029018 79029018 C T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.4430 p.T1477I 0.001 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 CNBD2 140894 genome.wustl.edu 37 20 34575384 34575384 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 34575384 34575384 G C SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known missense c.784 p.E262Q 0.824 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC COL12A1 1303 genome.wustl.edu 37 6 75912466 75912466 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 75912466 75912466 C T SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.43 p.A15T 1.000 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC COL18A1 80781 genome.wustl.edu 37 21 46875882 46875882 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 46875882 46875882 G A SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known silent c.438 p.E146 0.000 pfam_DUF959_COL18_N pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC COL18A1 80781 genome.wustl.edu 37 21 46925096 46925096 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 46925096 46925096 C T SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known nonsense c.4162 p.Q1388* 1.000 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC COL24A1 255631 genome.wustl.edu 37 1 86591521 86591521 + Silent SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 86591521 86591521 A G SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known silent c.498 p.F166 0.823 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC COL6A3 1293 genome.wustl.edu 37 2 238296430 238296430 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 238296430 238296430 C T SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known silent c.1107 p.L369 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC COLEC12 81035 genome.wustl.edu 37 18 346407 346407 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 346407 346407 C T SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known silent c.1215 p.L405 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC COQ5 84274 genome.wustl.edu 37 12 120960131 120960131 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 120960131 120960131 C T SNP COQ5 ENST00000288532 human ensembl 70_37 -1 known missense c.238 p.D80N 1.000 pfam_UbiE/COQ5_MeTrFase pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC CORT 1325 genome.wustl.edu 37 1 10510270 10510270 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 10510270 10510270 C T SNP CORT ENST00000320498 human ensembl 70_37 +1 known missense c.140 p.S47L 0.000 NULL pfam_Somatostatin/Cortistatin_C - no_errors CORT HGNC COX10 1352 genome.wustl.edu 37 17 14063216 14063216 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 14063216 14063216 C G SNP COX10 ENST00000261643 human ensembl 70_37 +1 known nonsense c.647 p.S216* 1.000 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC COX7A2 1347 genome.wustl.edu 37 6 75953513 75953513 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 75953513 75953513 G A SNP COX7A2 ENST00000370081 human ensembl 70_37 -1 known missense c.34 p.P12S 1.000 NULL pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a - no_errors COX7A2 HGNC CPS1 1373 genome.wustl.edu 37 2 211467045 211467045 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 211467045 211467045 C T SNP CPS1 ENST00000430249 human ensembl 70_37 +1 known silent c.1845 p.L615 0.646 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC CRLF1 9244 genome.wustl.edu 37 19 18705208 18705208 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18705208 18705208 C T SNP CRLF1 ENST00000392386 human ensembl 70_37 -1 known missense c.1061 p.R354Q 1.000 NULL pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF1 HGNC CTC1 80169 genome.wustl.edu 37 17 8137855 8137855 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 8137855 8137855 G A SNP CTC1 ENST00000315684 human ensembl 70_37 -1 known missense c.1736 p.S579F 0.000 NULL NULL - no_errors CTC1 HGNC CTNND1 1500 genome.wustl.edu 37 11 57575940 57575940 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 57575940 57575940 G A SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known missense c.2170 p.E724K 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC CTU1 90353 genome.wustl.edu 37 19 51607718 51607718 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 51607718 51607718 C T SNP CTU1 ENST00000421832 human ensembl 70_37 -1 known missense c.109 p.E37K 1.000 pirsf_2-thiocytidine_tRNA_synth_TtcA pfam_tRNA-lysidine/thiocyt_synth,pirsf_2-thiocytidine_tRNA_synth_TtcA - no_errors CTU1 HGNC CUBN 8029 genome.wustl.edu 37 10 16975228 16975228 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 16975228 16975228 C T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known silent c.5982 p.P1994 0.105 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC CUEDC2 79004 genome.wustl.edu 37 10 104184490 104184490 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 104184490 104184490 G A SNP CUEDC2 ENST00000369937 human ensembl 70_37 -1 known missense c.134 p.S45L 0.992 NULL pfam_CUE,superfamily_UBA-like,pfscan_CUE - no_errors CUEDC2 HGNC CYC1 1537 genome.wustl.edu 37 8 145151377 145151377 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 145151377 145151377 C G SNP CYC1 ENST00000318911 human ensembl 70_37 +1 known silent c.591 p.L197 1.000 pfam_Cyt_c1,superfamily_Cyt_c_dom,prints_Cyt_c1 pfam_Cyt_c1,superfamily_Cyt_c_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC DCAF4L2 138009 genome.wustl.edu 37 8 88885075 88885075 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 88885075 88885075 G A SNP DCAF4L2 ENST00000319675 human ensembl 70_37 -1 known silent c.1125 p.F375 0.414 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC DCAF8L1 139425 genome.wustl.edu 37 X 27998204 27998204 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 27998204 27998204 G A SNP DCAF8L1 ENST00000441525 human ensembl 70_37 -1 known silent c.1248 p.L416 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC DCDC5 100506627 genome.wustl.edu 37 11 31131824 31131824 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 31131824 31131824 C T SNP DCDC5 ENST00000597505 human ensembl 70_37 -1 putative missense c.1570 p.D524N 0.000 NULL pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC DDI2 84301 genome.wustl.edu 37 1 15978270 15978270 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 15978270 15978270 G A SNP DDI2 ENST00000480945 human ensembl 70_37 +1 known missense c.1063 p.E355K 1.000 NULL pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin,superfamily_Peptidase_aspartic,pfscan_Ubiquitin_supergroup - no_errors DDI2 HGNC DDX18 8886 genome.wustl.edu 37 2 118586868 118586868 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 118586868 118586868 G C SNP DDX18 ENST00000263239 human ensembl 70_37 +1 known missense c.1696 p.E566Q 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC DENND1C 79958 genome.wustl.edu 37 19 6471304 6471304 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 6471304 6471304 G A SNP DENND1C ENST00000381480 human ensembl 70_37 -1 known missense c.1262 p.S421F 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC DGKK 139189 genome.wustl.edu 37 X 50130629 50130629 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 50130629 50130629 C T SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC DHFRL1 200895 genome.wustl.edu 37 3 93780203 93780203 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 93780203 93780203 C T SNP DHFRL1 ENST00000314636 human ensembl 70_37 -1 known silent c.153 p.V51 1.000 pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR - no_errors DHFRL1 HGNC DHPS 1725 genome.wustl.edu 37 19 12792434 12792434 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 12792434 12792434 G T SNP DHPS ENST00000210060 human ensembl 70_37 -1 known missense c.147 p.F49L 0.838 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC DKK3 27122 genome.wustl.edu 37 11 11985984 11985984 + RNA SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 11985984 11985984 C A SNP DKK3 ENST00000527132 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DKK3 HGNC DMD 1756 genome.wustl.edu 37 X 31190490 31190490 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 31190490 31190490 C G SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.10369 p.D3457H 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAH6 1768 genome.wustl.edu 37 2 85035553 85035553 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 85035553 85035553 G C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.11626 p.E3876Q 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAJC12 56521 genome.wustl.edu 37 10 69565485 69565485 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 69565485 69565485 G A SNP DNAJC12 ENST00000225171 human ensembl 70_37 -1 known missense c.358 p.H120Y 0.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC12 HGNC DPCR1 135656 genome.wustl.edu 37 6 30920820 30920820 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 30920820 30920820 G A SNP DPCR1 ENST00000304311 human ensembl 70_37 +1 known missense c.634 p.G212S 0.569 NULL NULL - no_errors DPCR1 HGNC DPY19L4 286148 genome.wustl.edu 37 8 95738627 95738627 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 95738627 95738627 G A SNP DPY19L4 ENST00000414645 human ensembl 70_37 +1 known missense c.85 p.E29K 1.000 NULL pfam_Dpy-19 - no_errors DPY19L4 HGNC DYDC2 84332 genome.wustl.edu 37 10 82126684 82126684 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 82126684 82126684 C T SNP DYDC2 ENST00000372198 human ensembl 70_37 +1 known missense c.553 p.P185S 0.000 NULL pfam_Dpy-30_motif - no_errors DYDC2 HGNC DZIP3 9666 genome.wustl.edu 37 3 108361302 108361302 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 108361302 108361302 C G SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known missense c.1082 p.S361C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC EFEMP1 2202 genome.wustl.edu 37 2 56149652 56149652 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 56149652 56149652 G A SNP EFEMP1 ENST00000497698 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EFEMP1 HGNC ELK4 2005 genome.wustl.edu 37 1 205592829 205592829 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 205592829 205592829 C T SNP ELK4 ENST00000357992 human ensembl 70_37 -1 known missense c.182 p.R61Q 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK4 HGNC ELL 8178 genome.wustl.edu 37 19 18572604 18572604 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18572604 18572604 C T SNP ELL ENST00000262809 human ensembl 70_37 -1 known silent c.528 p.R176 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ELL2 22936 genome.wustl.edu 37 5 95255153 95255153 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 95255153 95255153 C G SNP ELL2 ENST00000237853 human ensembl 70_37 -1 known missense c.292 p.D98H 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC EML6 400954 genome.wustl.edu 37 2 55193939 55193939 + RNA SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 55193939 55193939 G T SNP EML6 ENST00000490828 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors EML6 HGNC EML6 400954 genome.wustl.edu 37 2 55193953 55193953 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 55193953 55193953 G A SNP EML6 ENST00000490828 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors EML6 HGNC ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117582 117582 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b GL000205.1 117582 117582 C T SNP ENSG00000212884 ENST00000391571 human ensembl 70_37 +1 known silent c.213 p.A71 NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000214581 0 genome.wustl.edu 37 16 34681533 34681533 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 34681533 34681533 G A SNP ENSG00000214581 ENST00000568619 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000221505 0 genome.wustl.edu 37 X 142534107 142534107 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 142534107 142534107 G A SNP ENSG00000221505 ENST00000408578 human ensembl 70_37 -1 novel rna NULL NULL 0.001 - - - no_errors AL030997.1 Clone_based_ensembl_gene ENSG00000223779 0 genome.wustl.edu 37 1 149262800 149262800 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 149262800 149262800 C G SNP ENSG00000223779 ENST00000325963 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000224298 0 genome.wustl.edu 37 17 34416789 34416789 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 34416789 34416789 C T SNP ENSG00000224298 ENST00000592728 human ensembl 70_37 +1 known rna NULL NULL 0.496 - - - no_errors AC069363.1 Clone_based_vega_gene ENSG00000226145 0 genome.wustl.edu 37 17 16722356 16722356 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 16722356 16722356 C G SNP ENSG00000226145 ENST00000417510 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000231050 0 genome.wustl.edu 37 1 1823744 1823744 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 1823744 1823744 C G SNP ENSG00000231050 ENST00000412228 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-140A9.1 Clone_based_vega_gene ENSG00000233002 0 genome.wustl.edu 37 17 15638647 15638647 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 15638647 15638647 G A SNP ENSG00000233002 ENST00000434017 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC005324.6 Clone_based_vega_gene ENSG00000248710 0 genome.wustl.edu 37 3 159995098 159995098 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 159995098 159995098 C A SNP ENSG00000248710 ENST00000483754 human ensembl 70_37 -1 known nonsense c.2608 p.E870* 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TRIM59 Uniprot_genename ENSG00000254855 0 genome.wustl.edu 37 11 66033101 66033101 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 66033101 66033101 G A SNP ENSG00000254855 ENST00000530805 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-867G23.1 Clone_based_vega_gene ENSG00000256249 0 genome.wustl.edu 37 12 123199991 123199991 + RNA SNP A A T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 123199991 123199991 A T SNP ENSG00000256249 ENST00000543611 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-324E6.6 Clone_based_vega_gene ENSG00000259321 0 genome.wustl.edu 37 14 24609089 24609089 + RNA SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 24609089 24609089 G C SNP ENSG00000259321 ENST00000558478 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-468E2.5 Clone_based_vega_gene ENSG00000260288 0 genome.wustl.edu 37 15 76030204 76030204 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 76030204 76030204 C T SNP ENSG00000260288 ENST00000565686 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-24M17.4 Clone_based_vega_gene EPAS1 2034 genome.wustl.edu 37 2 46574022 46574022 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 46574022 46574022 G C SNP EPAS1 ENST00000263734 human ensembl 70_37 +1 known missense c.37 p.E13Q 1.000 superfamily_HLH_dom,pfscan_HLH_dom pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors EPAS1 HGNC EPB41L4B 54566 genome.wustl.edu 37 9 112003954 112003954 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 112003954 112003954 C T SNP EPB41L4B ENST00000374557 human ensembl 70_37 -1 known missense c.1545 p.M515I 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4B HGNC ERCC6L2 375748 genome.wustl.edu 37 9 98685658 98685658 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 98685658 98685658 G A SNP ERCC6L2 ENST00000437817 human ensembl 70_37 +1 known missense c.996 p.M332I 1.000 pfam_HDA_complex_subunit-2/3 pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ESRRG 2104 genome.wustl.edu 37 1 216850524 216850524 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 216850524 216850524 C T SNP ESRRG ENST00000408911 human ensembl 70_37 -1 known silent c.366 p.S122 0.972 prints_Retinoic_acid_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC FAM131A 131408 genome.wustl.edu 37 3 184056262 184056262 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 184056262 184056262 G A SNP FAM131A ENST00000383847 human ensembl 70_37 +1 known missense c.176 p.R59Q 1.000 NULL NULL - no_errors FAM131A HGNC FAM159B 100132916 genome.wustl.edu 37 5 63991426 63991426 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 63991426 63991426 C A SNP FAM159B ENST00000389074 human ensembl 70_37 +1 known missense c.284 p.T95K 0.989 NULL NULL - no_errors FAM159B HGNC FAM19A5 25817 genome.wustl.edu 37 22 49145893 49145893 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 49145893 49145893 C T SNP FAM19A5 ENST00000473898 human ensembl 70_37 +1 known rna NULL NULL 0.833 - - - no_errors FAM19A5 HGNC FAM227A 646851 genome.wustl.edu 37 22 39041581 39041581 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 39041581 39041581 G A SNP FAM227A ENST00000406767 human ensembl 70_37 -1 known missense c.194 p.S65L 0.000 NULL superfamily_Staphylocoagulase_N - no_errors FAM227A HGNC NUTM2B 729262 genome.wustl.edu 37 10 81466126 81466126 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 81466126 81466126 C T SNP FAM22B ENST00000429828 human ensembl 70_37 +1 known silent c.711 p.L237 0.003 NULL NULL - no_errors FAM22B HGNC FAM71D 161142 genome.wustl.edu 37 14 67671768 67671768 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 67671768 67671768 G C SNP FAM71D ENST00000311864 human ensembl 70_37 +1 known missense c.874 p.E292Q 1.000 NULL pfam_DUF3699 - no_errors FAM71D HGNC FAM86JP 100125556 genome.wustl.edu 37 3 125648495 125648495 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 125648495 125648495 G A SNP FAM86JP ENST00000467239 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM86JP HGNC FARP1 10160 genome.wustl.edu 37 13 99047520 99047520 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 99047520 99047520 G A SNP FARP1 ENST00000376586 human ensembl 70_37 +1 known missense c.1204 p.E402K 0.002 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC FGR 2268 genome.wustl.edu 37 1 27949617 27949617 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 27949617 27949617 C T SNP FGR ENST00000374003 human ensembl 70_37 -1 known missense c.265 p.E89K 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC FHL1 2273 genome.wustl.edu 37 X 135289174 135289174 + Splice_Site SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 135289174 135289174 G A SNP FHL1 ENST00000345434 human ensembl 70_37 +1 known splice_site c.157-1 e2-1 1.000 - - - no_errors FHL1 HGNC FKBPL 63943 genome.wustl.edu 37 6 32096939 32096939 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 32096939 32096939 C A SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known nonsense c.619 p.E207* 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC FKBPL 63943 genome.wustl.edu 37 6 32096940 32096940 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 32096940 32096940 C T SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known silent c.618 p.K206 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC FKBPL 63943 genome.wustl.edu 37 6 32097143 32097143 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 32097143 32097143 C T SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known missense c.415 p.E139K 0.999 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC FLG 2312 genome.wustl.edu 37 1 152281552 152281552 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 152281552 152281552 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.5810 p.S1937C 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FOXE1 2304 genome.wustl.edu 37 9 100616545 100616545 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 100616545 100616545 G C SNP FOXE1 ENST00000375123 human ensembl 70_37 +1 known missense c.349 p.E117Q 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC FREM2 341640 genome.wustl.edu 37 13 39265951 39265951 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 39265951 39265951 C A SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.4470 p.N1490K 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC CMTR2 55783 genome.wustl.edu 37 16 71319737 71319737 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 71319737 71319737 G A SNP FTSJD1 ENST00000338099 human ensembl 70_37 -1 known silent c.87 p.L29 1.000 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJD1 HGNC FXR1 8087 genome.wustl.edu 37 3 180688094 180688094 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 180688094 180688094 G A SNP FXR1 ENST00000357559 human ensembl 70_37 +1 known silent c.1551 p.L517 0.998 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC FYN 2534 genome.wustl.edu 37 6 112029209 112029209 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 112029209 112029209 C A SNP FYN ENST00000354650 human ensembl 70_37 -1 known missense c.359 p.W120L 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC GABRA1 2554 genome.wustl.edu 37 5 161277835 161277835 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 161277835 161277835 C T SNP GABRA1 ENST00000023897 human ensembl 70_37 +1 known silent c.19 p.L7 0.600 prints_GABBAa1_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC GABRB1 2560 genome.wustl.edu 37 4 47427865 47427865 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 47427865 47427865 G T SNP GABRB1 ENST00000295454 human ensembl 70_37 +1 known missense c.1255 p.D419Y 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC GJB3 2707 genome.wustl.edu 37 1 35250933 35250933 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 35250933 35250933 C T SNP GJB3 ENST00000373362 human ensembl 70_37 +1 known silent c.570 p.F190 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC GKAP1 80318 genome.wustl.edu 37 9 86363353 86363353 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 86363353 86363353 C G SNP GKAP1 ENST00000376362 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GKAP1 HGNC COLGALT1 79709 genome.wustl.edu 37 19 17690345 17690345 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 17690345 17690345 G A SNP GLT25D1 ENST00000252599 human ensembl 70_37 +1 known missense c.1321 p.E441K 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC GNAS 2778 genome.wustl.edu 37 20 57415168 57415168 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 57415168 57415168 C T SNP GNAS ENST00000313949 human ensembl 70_37 +1 known missense c.7 p.R3W 0.996 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC GNAT2 2780 genome.wustl.edu 37 1 110148667 110148667 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 110148667 110148667 G A SNP GNAT2 ENST00000351050 human ensembl 70_37 -1 known silent c.645 p.F215 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT2 HGNC GOLGA8B 440270 genome.wustl.edu 37 15 34844555 34844555 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 34844555 34844555 G A SNP GOLGA8B ENST00000562282 human ensembl 70_37 -1 putative rna NULL NULL 0.075 - - - no_errors GOLGA8B HGNC GON4L 54856 genome.wustl.edu 37 1 155785975 155785975 + RNA SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 155785975 155785975 G C SNP GON4L ENST00000471341 human ensembl 70_37 -1 known rna NULL NULL 0.414 - - - no_errors GON4L HGNC GPR101 83550 genome.wustl.edu 37 X 136112351 136112351 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 136112351 136112351 C T SNP GPR101 ENST00000298110 human ensembl 70_37 -1 known missense c.1483 p.E495K 0.825 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC GPR126 57211 genome.wustl.edu 37 6 142691547 142691547 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 142691547 142691547 C G SNP GPR126 ENST00000367609 human ensembl 70_37 +1 known nonsense c.686 p.S229* 0.002 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC GPR137 56834 genome.wustl.edu 37 11 64055563 64055563 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 64055563 64055563 G A SNP GPR137 ENST00000313074 human ensembl 70_37 +1 known silent c.660 p.A220 0.006 NULL NULL - no_errors GPR137 HGNC GPR50 9248 genome.wustl.edu 37 X 150348749 150348749 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 150348749 150348749 G A SNP GPR50 ENST00000218316 human ensembl 70_37 +1 known missense c.694 p.E232K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_Melatonin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC GPRIN3 285513 genome.wustl.edu 37 4 90169501 90169501 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 90169501 90169501 C T SNP GPRIN3 ENST00000333209 human ensembl 70_37 -1 known silent c.1761 p.K587 0.000 NULL NULL - no_errors GPRIN3 HGNC GRIN2A 2903 genome.wustl.edu 37 16 9916129 9916129 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 9916129 9916129 C T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.2160 p.L720 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC GRIN2A 2903 genome.wustl.edu 37 16 9916191 9916191 + Missense_Mutation SNP A A T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 9916191 9916191 A T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known missense c.2098 p.Y700N 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC GRK4 2868 genome.wustl.edu 37 4 3040219 3040219 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 3040219 3040219 C G SNP GRK4 ENST00000398052 human ensembl 70_37 +1 known missense c.1662 p.F554L 0.928 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK4 HGNC GSN 2934 genome.wustl.edu 37 9 124074512 124074512 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 124074512 124074512 G A SNP GSN ENST00000485767 human ensembl 70_37 +1 known rna NULL NULL 0.102 - - - no_errors GSN HGNC GSN-AS1 57000 genome.wustl.edu 37 9 124047340 124047340 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 124047340 124047340 G A SNP GSN-AS1 ENST00000414544 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GSN-AS1 HGNC GSTA5 221357 genome.wustl.edu 37 6 52696763 52696763 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 52696763 52696763 C T SNP GSTA5 ENST00000284562 human ensembl 70_37 -1 known silent c.552 p.L184 0.462 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC HEATR5B 54497 genome.wustl.edu 37 2 37215840 37215840 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 37215840 37215840 C T SNP HEATR5B ENST00000233099 human ensembl 70_37 -1 known missense c.5860 p.E1954K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC MROH2B 133558 genome.wustl.edu 37 5 40998766 40998766 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 40998766 40998766 G A SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known silent c.4599 p.L1533 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC HIST1H4F 8361 genome.wustl.edu 37 6 26240851 26240851 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 26240851 26240851 G C SNP HIST1H4F ENST00000377745 human ensembl 70_37 +1 known silent c.198 p.V66 0.991 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC HLA-DMB 3109 genome.wustl.edu 37 6 32906570 32906570 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 32906570 32906570 G C SNP HLA-DMB ENST00000418107 human ensembl 70_37 -1 known silent c.228 p.L76 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC HLA-DMB 3109 genome.wustl.edu 37 6 32906678 32906678 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 32906678 32906678 G A SNP HLA-DMB ENST00000418107 human ensembl 70_37 -1 known silent c.120 p.F40 0.515 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC HLA-DPB1 3115 genome.wustl.edu 37 6 33048688 33048689 + Frame_Shift_Ins INS - - A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 33048688 33048689 - A INS HLA-DPB1 ENST00000418931 human ensembl 70_37 +1 known frame_shift_ins c.340_341 p.G114fs 0.000:0.000 superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DPB1 HGNC HOXC5 3222 genome.wustl.edu 37 12 54428118 54428118 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 54428118 54428118 G C SNP HOXC5 ENST00000312492 human ensembl 70_37 +1 known missense c.511 p.E171Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_antennapedia pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC HPS6 79803 genome.wustl.edu 37 10 103826424 103826424 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 103826424 103826424 C T SNP HPS6 ENST00000299238 human ensembl 70_37 +1 known missense c.1193 p.S398L 0.008 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC HPSE2 60495 genome.wustl.edu 37 10 100249925 100249925 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 100249925 100249925 C T SNP HPSE2 ENST00000370552 human ensembl 70_37 -1 known missense c.1349 p.R450H 0.999 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC HSPA1L 3305 genome.wustl.edu 37 6 31778159 31778159 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 31778159 31778159 C G SNP HSPA1L ENST00000375654 human ensembl 70_37 -1 known missense c.1591 p.D531H 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC HSPA6 3310 genome.wustl.edu 37 1 161495804 161495804 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 161495804 161495804 C G SNP HSPA6 ENST00000309758 human ensembl 70_37 +1 known silent c.1356 p.T452 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC IFI30 10437 genome.wustl.edu 37 19 18288689 18288689 + Missense_Mutation SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18288689 18288689 A G SNP IFI30 ENST00000407280 human ensembl 70_37 +1 known missense c.721 p.T241A 0.000 NULL pfam_Interferon-induced_GILT - no_errors IFI30 HGNC IFNA21 3452 genome.wustl.edu 37 9 21166471 21166471 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 21166471 21166471 G A SNP IFNA21 ENST00000380225 human ensembl 70_37 -1 known silent c.141 p.I47 0.015 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA21 HGNC IGF2BP1 10642 genome.wustl.edu 37 17 47075053 47075053 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 47075053 47075053 C T SNP IGF2BP1 ENST00000510023 human ensembl 70_37 +1 putative rna NULL NULL 0.055 - - - no_errors IGF2BP1 HGNC IGFN1 91156 genome.wustl.edu 37 1 201177197 201177197 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 201177197 201177197 C T SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.3176 p.S1059F 0.005 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC INTS7 25896 genome.wustl.edu 37 1 212118246 212118246 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 212118246 212118246 C T SNP INTS7 ENST00000366994 human ensembl 70_37 -1 known silent c.2481 p.L827 1.000 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC IP6K2 51447 genome.wustl.edu 37 3 48731583 48731583 + Nonstop_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 48731583 48731583 C G SNP IP6K2 ENST00000340879 human ensembl 70_37 -1 known nonstop c.293 p.*98S 0.972 NULL NULL - no_errors IP6K2 HGNC IRF9 10379 genome.wustl.edu 37 14 24632271 24632271 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 24632271 24632271 G C SNP IRF9 ENST00000396864 human ensembl 70_37 +1 known missense c.277 p.E93Q 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC IRGM 345611 genome.wustl.edu 37 5 150228060 150228060 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 150228060 150228060 G A SNP IRGM ENST00000522154 human ensembl 70_37 +1 known missense c.375 p.M125I 0.024 pfam_Interferon-induced_GTPase pfam_Interferon-induced_GTPase - no_errors IRGM HGNC IRGQ 126298 genome.wustl.edu 37 19 44097011 44097011 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 44097011 44097011 C G SNP IRGQ ENST00000422989 human ensembl 70_37 -1 known missense c.1039 p.E347Q 0.079 NULL NULL - no_errors IRGQ HGNC ITFG1 81533 genome.wustl.edu 37 16 47252809 47252809 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 47252809 47252809 C T SNP ITFG1 ENST00000320640 human ensembl 70_37 -1 known missense c.1423 p.D475N 0.999 NULL NULL - no_errors ITFG1 HGNC ITPR3 3710 genome.wustl.edu 37 6 33655086 33655086 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 33655086 33655086 C T SNP ITPR3 ENST00000374316 human ensembl 70_37 +1 known silent c.6159 p.I2053 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ITPR3 3710 genome.wustl.edu 37 6 33655092 33655092 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 33655092 33655092 C T SNP ITPR3 ENST00000374316 human ensembl 70_37 +1 known silent c.6165 p.I2055 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC JAKMIP3 282973 genome.wustl.edu 37 10 133946876 133946876 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 133946876 133946876 C T SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known nonsense c.694 p.Q232* 0.987 NULL NULL - no_errors JAKMIP3 HGNC KBTBD7 84078 genome.wustl.edu 37 13 41768355 41768355 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 41768355 41768355 G A SNP KBTBD7 ENST00000379483 human ensembl 70_37 -1 known silent c.39 p.L13 0.856 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC KCNB2 9312 genome.wustl.edu 37 8 73849309 73849309 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 73849309 73849309 G C SNP KCNB2 ENST00000523207 human ensembl 70_37 +1 known missense c.1719 p.E573D 1.000 pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC KCNH4 23415 genome.wustl.edu 37 17 40312447 40312447 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 40312447 40312447 G A SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known missense c.2665 p.R889C 0.945 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC KCTD20 222658 genome.wustl.edu 37 6 36454677 36454677 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 36454677 36454677 G C SNP KCTD20 ENST00000373731 human ensembl 70_37 +1 known missense c.985 p.E329Q 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD20 HGNC KCTD8 386617 genome.wustl.edu 37 4 44450311 44450311 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 44450311 44450311 G A SNP KCTD8 ENST00000360029 human ensembl 70_37 -1 known missense c.230 p.S77F 0.048 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC KDM5B 10765 genome.wustl.edu 37 1 202700053 202700053 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 202700053 202700053 C G SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known missense c.4160 p.R1387T 0.003 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC CEP170B 283638 genome.wustl.edu 37 14 105351721 105351721 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 105351721 105351721 G C SNP KIAA0284 ENST00000453495 human ensembl 70_37 +1 known missense c.1789 p.E597Q 0.975 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors KIAA0284 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5460805 5460805 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 5460805 5460805 C G SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.1358 p.S453C 0.002 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIAA1107 23285 genome.wustl.edu 37 1 92632614 92632614 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 92632614 92632614 C T SNP KIAA1107 ENST00000409154 human ensembl 70_37 +1 known nonsense c.73 p.Q25* 0.563 NULL NULL - no_errors KIAA1107 HGNC KIAA1549L 25758 genome.wustl.edu 37 11 33682526 33682526 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 33682526 33682526 G A SNP KIAA1549L ENST00000389726 human ensembl 70_37 +1 known missense c.5252 p.G1751E 1.000 NULL NULL - no_errors KIAA1549L HGNC KIAA1841 84542 genome.wustl.edu 37 2 61315639 61315640 + RNA DEL TA TA - TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 61315639 61315640 TA - DEL KIAA1841 ENST00000482513 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors KIAA1841 HGNC KIAA2022 340533 genome.wustl.edu 37 X 73960815 73960815 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 73960815 73960815 G A SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known nonsense c.3577 p.Q1193* 1.000 NULL NULL - no_errors KIAA2022 HGNC KIF13B 23303 genome.wustl.edu 37 8 29025072 29025072 + Missense_Mutation SNP T T G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 29025072 29025072 T G SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known missense c.976 p.M326L 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC KIF1B 23095 genome.wustl.edu 37 1 10384847 10384847 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 10384847 10384847 G C SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.2431 p.D811H 1.000 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC KIF26B 55083 genome.wustl.edu 37 1 245850611 245850611 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 245850611 245850611 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known silent c.4326 p.L1442 0.123 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KIF2C 11004 genome.wustl.edu 37 1 45232560 45232560 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 45232560 45232560 C G SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known silent c.2034 p.T678 0.984 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC KIF4B 285643 genome.wustl.edu 37 5 154393825 154393825 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 154393825 154393825 C T SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known silent c.406 p.L136 0.362 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC KIFAP3 22920 genome.wustl.edu 37 1 170024468 170024468 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 170024468 170024468 C T SNP KIFAP3 ENST00000361580 human ensembl 70_37 -1 known missense c.142 p.E48K 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 66852 66852 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b GL000209.1 66852 66852 G C SNP KIR3DS1 ENST00000400851 human ensembl 70_37 +1 known missense c.822 p.Q274H NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC KLHL36 79786 genome.wustl.edu 37 16 84695457 84695457 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 84695457 84695457 C G SNP KLHL36 ENST00000564996 human ensembl 70_37 +1 known missense c.1569 p.C523W 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC KLHL38 340359 genome.wustl.edu 37 8 124658171 124658171 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 124658171 124658171 C T SNP KLHL38 ENST00000325995 human ensembl 70_37 -1 known silent c.1554 p.V518 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC KLHL4 56062 genome.wustl.edu 37 X 86873030 86873030 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 86873030 86873030 C T SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.823 p.L275F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC KLLN 100144748 genome.wustl.edu 37 10 89622151 89622151 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 89622151 89622151 G A SNP KLLN ENST00000445946 human ensembl 70_37 -1 known silent c.94 p.L32 0.991 NULL NULL - no_errors KLLN HGNC KPNA5 3841 genome.wustl.edu 37 6 117023290 117023290 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 117023290 117023290 G A SNP KPNA5 ENST00000356348 human ensembl 70_37 +1 known missense c.544 p.E182K 1.000 pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC KPNA5 3841 genome.wustl.edu 37 6 117023296 117023296 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 117023296 117023296 G A SNP KPNA5 ENST00000356348 human ensembl 70_37 +1 known missense c.550 p.E184K 1.000 pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC KRTAP10-3 386682 genome.wustl.edu 37 21 45978470 45978470 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 45978470 45978470 C T SNP KRTAP10-3 ENST00000391620 human ensembl 70_37 -1 known silent c.129 p.L43 0.203 NULL NULL - no_errors KRTAP10-3 HGNC L3MBTL4 91133 genome.wustl.edu 37 18 6238035 6238035 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 6238035 6238035 C T SNP L3MBTL4 ENST00000284898 human ensembl 70_37 -1 known missense c.712 p.D238N 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC LAS1L 81887 genome.wustl.edu 37 X 64732513 64732513 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 64732513 64732513 C T SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LAS1L HGNC LAS1L 81887 genome.wustl.edu 37 X 64749560 64749560 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 64749560 64749560 G A SNP LAS1L ENST00000374811 human ensembl 70_37 -1 known missense c.713 p.S238L 0.000 NULL pfam_Las1 - no_errors LAS1L HGNC LDHAL6A 160287 genome.wustl.edu 37 11 18485562 18485562 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 18485562 18485562 G A SNP LDHAL6A ENST00000280706 human ensembl 70_37 +1 known missense c.181 p.E61K 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6A HGNC LDLRAP1 26119 genome.wustl.edu 37 1 25894729 25894729 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 25894729 25894729 G A SNP LDLRAP1 ENST00000488127 human ensembl 70_37 +1 known rna NULL NULL 0.982 - - - no_errors LDLRAP1 HGNC LEPR 3953 genome.wustl.edu 37 1 66067544 66067544 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 66067544 66067544 C T SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.1304 p.S435L 1.000 superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC LIMCH1 22998 genome.wustl.edu 37 4 41631748 41631748 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 41631748 41631748 C T SNP LIMCH1 ENST00000503057 human ensembl 70_37 +1 known missense c.1268 p.A423V 0.001 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC LINC00346 283487 genome.wustl.edu 37 13 111521805 111521805 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 111521805 111521805 G A SNP LINC00346 ENST00000538077 human ensembl 70_37 -1 known silent c.333 p.L111 0.696 NULL NULL - no_errors LINC00346 HGNC LINC00588 26138 genome.wustl.edu 37 8 58192372 58192372 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 58192372 58192372 C T SNP LINC00588 ENST00000521663 human ensembl 70_37 +1 known rna NULL NULL 0.222 - - - no_errors LINC00588 HGNC LOC100507291 100507291 genome.wustl.edu 37 3 139302129 139302129 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 139302129 139302129 C G SNP LOC100507291 ENST00000515247 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-319G6.1 Clone_based_vega_gene LOC100509445 100509445 genome.wustl.edu 37 12 31267342 31267342 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 31267342 31267342 G A SNP LOC100509445 ENST00000391394 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-551L14.1 Clone_based_vega_gene LOC101060462 101060462 genome.wustl.edu 37 10 47769385 47769385 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 47769385 47769385 C A SNP LOC101060462 ENST00000335083 human ensembl 70_37 +1 known nonsense c.206 p.S69* 0.000 NULL NULL - no_errors AL603965.1 Clone_based_ensembl_gene LOC101060596 101060596 genome.wustl.edu 37 16 21475009 21475009 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 21475009 21475009 C T SNP LOC101060596 ENST00000522841 human ensembl 70_37 -1 known rna NULL NULL 0.087 - - - no_errors CTD-2547E10.2 Clone_based_vega_gene LOC440993 440993 genome.wustl.edu 37 3 195415427 195415427 + RNA SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 195415427 195415427 C A SNP LOC440993 ENST00000420851 human ensembl 70_37 +1 known rna NULL NULL 0.063 - - - no_errors AC069513.3 Clone_based_vega_gene LPIN2 9663 genome.wustl.edu 37 18 2938016 2938016 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 2938016 2938016 G C SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known missense c.842 p.S281C 0.001 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC LRG1 116844 genome.wustl.edu 37 19 4538642 4538642 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 4538642 4538642 C G SNP LRG1 ENST00000306390 human ensembl 70_37 -1 known silent c.354 p.L118 0.003 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC LRRC8D 55144 genome.wustl.edu 37 1 90400119 90400119 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 90400119 90400119 G A SNP LRRC8D ENST00000337338 human ensembl 70_37 +1 known missense c.1492 p.E498K 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC LRSAM1 90678 genome.wustl.edu 37 9 130251773 130251773 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 130251773 130251773 G A SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known silent c.1398 p.L466 0.937 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC MAGED1 9500 genome.wustl.edu 37 X 51641680 51641680 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 51641680 51641680 G A SNP MAGED1 ENST00000375695 human ensembl 70_37 +1 known silent c.1953 p.V651 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC MAP3K19 80122 genome.wustl.edu 37 2 135738524 135738524 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 135738524 135738524 C T SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.3787 p.G1263R 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,pfscan_Prot_kinase_cat_dom 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 MAP3K19 HGNC MAP4 4134 genome.wustl.edu 37 3 47963325 47963325 + Silent SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 47963325 47963325 G T SNP MAP4 ENST00000360240 human ensembl 70_37 -1 known silent c.459 p.V153 0.956 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC MAP4K1 11184 genome.wustl.edu 37 19 39100263 39100263 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 39100263 39100263 G A SNP MAP4K1 ENST00000591517 human ensembl 70_37 -1 known silent c.979 p.L327 0.801 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC MAPK9 5601 genome.wustl.edu 37 5 179688761 179688761 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 179688761 179688761 G A SNP MAPK9 ENST00000452135 human ensembl 70_37 -1 known missense c.373 p.H125Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC MAPKAPK2 9261 genome.wustl.edu 37 1 206904645 206904646 + RNA DEL GT GT - TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 206904645 206904646 GT - DEL MAPKAPK2 ENST00000479009 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors MAPKAPK2 HGNC MARCO 8685 genome.wustl.edu 37 2 119749366 119749366 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 119749366 119749366 G A SNP MARCO ENST00000327097 human ensembl 70_37 +1 known silent c.1122 p.V374 0.186 pfam_Collagen pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors MARCO HGNC MAST3 23031 genome.wustl.edu 37 19 18254611 18254611 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18254611 18254611 C T SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.2291 p.S764L 0.254 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC MAST3 23031 genome.wustl.edu 37 19 18254622 18254622 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18254622 18254622 C T SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known nonsense c.2302 p.Q768* 0.963 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC MAST3 23031 genome.wustl.edu 37 19 18255851 18255851 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18255851 18255851 C T SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.2764 p.P922S 1.000 superfamily_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC MAST4 375449 genome.wustl.edu 37 5 65892659 65892659 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 65892659 65892659 G C SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.176 p.R59T 0.219 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC MATK 4145 genome.wustl.edu 37 19 3779086 3779086 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 3779086 3779086 C G SNP MATK ENST00000395045 human ensembl 70_37 -1 known missense c.1104 p.K368N 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC MBTD1 54799 genome.wustl.edu 37 17 49281254 49281254 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 49281254 49281254 C G SNP MBTD1 ENST00000415868 human ensembl 70_37 -1 known missense c.637 p.E213Q 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC MFSD5 84975 genome.wustl.edu 37 12 53646785 53646785 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 53646785 53646785 G C SNP MFSD5 ENST00000534842 human ensembl 70_37 +1 known missense c.487 p.D163H 1.000 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC MICB 4277 genome.wustl.edu 37 6 31474941 31474941 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 31474941 31474941 G A SNP MICB ENST00000252229 human ensembl 70_37 +1 known silent c.756 p.Q252 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICB HGNC MIER2 54531 genome.wustl.edu 37 19 307174 307174 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 307174 307174 G A SNP MIER2 ENST00000264819 human ensembl 70_37 -1 known silent c.1561 p.L521 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC MIR205HG 642587 genome.wustl.edu 37 1 209605571 209605571 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 209605571 209605571 G A SNP MIR205HG ENST00000366437 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR205HG HGNC MIR205HG 642587 genome.wustl.edu 37 1 209605579 209605579 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 209605579 209605579 G A SNP MIR205HG ENST00000366437 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR205HG HGNC MIR205HG 642587 genome.wustl.edu 37 1 209605721 209605721 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 209605721 209605721 G A SNP MIR205HG ENST00000366437 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors MIR205HG HGNC KMT2A 4297 genome.wustl.edu 37 11 118352537 118352537 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 118352537 118352537 G T SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.3742 p.A1248S 0.942 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC KMT2D 8085 genome.wustl.edu 37 12 49420619 49420619 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 49420619 49420619 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.15130 p.D5044N 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49420832 49420832 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 49420832 49420832 C G SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.14917 p.D4973H 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49424551 49424551 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 49424551 49424551 C G SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.13672 p.E4558Q 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49425059 49425059 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 49425059 49425059 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.13429 p.G4477R 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151877100 151877100 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 151877100 151877100 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.7261 p.Q2421* 0.530 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MMRN2 79812 genome.wustl.edu 37 10 88703291 88703291 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 88703291 88703291 G A SNP MMRN2 ENST00000372027 human ensembl 70_37 -1 known missense c.1250 p.S417F 0.002 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like,superfamily_tRNA-bd_arm,smart_C1q,pfscan_C1q,pfscan_EMI_domain,prints_C1q - no_errors MMRN2 HGNC MMS22L 253714 genome.wustl.edu 37 6 97711270 97711270 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 97711270 97711270 C A SNP MMS22L ENST00000275053 human ensembl 70_37 -1 known nonsense c.883 p.E295* 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC MN1 4330 genome.wustl.edu 37 22 28147025 28147025 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 28147025 28147025 G C SNP MN1 ENST00000302326 human ensembl 70_37 -1 known missense c.3841 p.L1281V 1.000 NULL NULL - no_errors MN1 HGNC MOB2 81532 genome.wustl.edu 37 11 1492613 1492613 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 1492613 1492613 G A SNP MOB2 ENST00000329957 human ensembl 70_37 -1 novel silent c.402 p.V134 0.998 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB2 HGNC MOCS1 4337 genome.wustl.edu 37 6 39895145 39895145 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 39895145 39895145 G A SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known missense c.173 p.S58F 1.000 NULL pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC MTOR 2475 genome.wustl.edu 37 1 11188178 11188178 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 11188178 11188178 G A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known silent c.5916 p.L1972 1.000 pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MTR 4548 genome.wustl.edu 37 1 237013777 237013777 + Missense_Mutation SNP A A C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 237013777 237013777 A C SNP MTR ENST00000366577 human ensembl 70_37 +1 known missense c.1649 p.H550P 1.000 pfam_Pterin-binding,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC MUC16 94025 genome.wustl.edu 37 19 9075567 9075567 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 9075567 9075567 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.11879 p.S3960C 0.002 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9090942 9090942 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 9090942 9090942 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.873 p.L291 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC20 200958 genome.wustl.edu 37 3 195346312 195346312 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 195346312 195346312 C T SNP MUC20 ENST00000381954 human ensembl 70_37 +1 known missense c.614 p.P205L 0.132 NULL NULL - no_errors MUC20 HGNC MXRA7 439921 genome.wustl.edu 37 17 74673769 74673769 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 74673769 74673769 C T SNP MXRA7 ENST00000355797 human ensembl 70_37 -1 known silent c.516 p.Q172 1.000 NULL NULL - no_errors MXRA7 HGNC MYH15 22989 genome.wustl.edu 37 3 108156543 108156543 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 108156543 108156543 C T SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.3139 p.E1047K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC MYH8 4626 genome.wustl.edu 37 17 10300225 10300225 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 10300225 10300225 C T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known silent c.4257 p.K1419 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC MYO5A 4644 genome.wustl.edu 37 15 52645825 52645825 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 52645825 52645825 C T SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known missense c.3598 p.E1200K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC N4BP2L1 90634 genome.wustl.edu 37 13 32981467 32981467 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 32981467 32981467 C T SNP N4BP2L1 ENST00000380130 human ensembl 70_37 -1 known missense c.316 p.A106T 1.000 pfam_Zeta_toxin_domain pfam_Zeta_toxin_domain - no_errors N4BP2L1 HGNC N4BP2L1 90634 genome.wustl.edu 37 13 32981472 32981472 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 32981472 32981472 C G SNP N4BP2L1 ENST00000380130 human ensembl 70_37 -1 known missense c.311 p.R104T 1.000 pfam_Zeta_toxin_domain pfam_Zeta_toxin_domain - no_errors N4BP2L1 HGNC N4BP2L1 90634 genome.wustl.edu 37 13 32981746 32981746 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 32981746 32981746 C T SNP N4BP2L1 ENST00000472298 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors N4BP2L1 HGNC NARF 26502 genome.wustl.edu 37 17 80445795 80445795 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 80445795 80445795 G A SNP NARF ENST00000309794 human ensembl 70_37 +1 known missense c.1133 p.C378Y 0.996 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC NBPF10 100132406 genome.wustl.edu 37 1 145293069 145293069 + RNA SNP A A T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 145293069 145293069 A T SNP NBPF10 ENST00000464433 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors NBPF10 HGNC NCAM1 4684 genome.wustl.edu 37 11 113148183 113148183 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 113148183 113148183 G A SNP NCAM1 ENST00000397957 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NCAM1 HGNC NCAN 1463 genome.wustl.edu 37 19 19338264 19338264 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 19338264 19338264 C T SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.1835 p.S612L 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC NDUFV1 4723 genome.wustl.edu 37 11 67376092 67376092 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 67376092 67376092 G A SNP NDUFV1 ENST00000322776 human ensembl 70_37 +1 known nonsense c.225 p.W75* 1.000 tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC NEB 4703 genome.wustl.edu 37 2 152547324 152547324 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 152547324 152547324 G A SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.2227 p.H743Y 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEDD4 4734 genome.wustl.edu 37 15 56152670 56152670 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 56152670 56152670 C T SNP NEDD4 ENST00000508342 human ensembl 70_37 -1 known missense c.2152 p.E718K 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors NEDD4 HGNC NIPBL 25836 genome.wustl.edu 37 5 36972051 36972051 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 36972051 36972051 G C SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.776 p.G259A 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC NKD2 85409 genome.wustl.edu 37 5 1036407 1036407 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 1036407 1036407 G A SNP NKD2 ENST00000296849 human ensembl 70_37 +1 known missense c.695 p.R232Q 0.943 NULL pfscan_EF_HAND_2 - no_errors NKD2 HGNC NLGN1 22871 genome.wustl.edu 37 3 173996843 173996843 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 173996843 173996843 G C SNP NLGN1 ENST00000401917 human ensembl 70_37 +1 known missense c.1172 p.R391P 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC NLRP11 204801 genome.wustl.edu 37 19 56321472 56321472 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 56321472 56321472 C T SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known silent c.504 p.L168 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC NLRP13 126204 genome.wustl.edu 37 19 56436353 56436353 + Missense_Mutation SNP T T C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 56436353 56436353 T C SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known missense c.368 p.E123G 0.007 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC NMT1 4836 genome.wustl.edu 37 17 43180327 43180327 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 43180327 43180327 G A SNP NMT1 ENST00000258960 human ensembl 70_37 +1 known silent c.1002 p.K334 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC NPAS4 266743 genome.wustl.edu 37 11 66189939 66189939 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 66189939 66189939 G A SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known silent c.345 p.Q115 1.000 smart_PAS,pfscan_PAS pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC NPAS4 266743 genome.wustl.edu 37 11 66191346 66191346 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 66191346 66191346 G A SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.985 p.E329K 1.000 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC NPAT 4863 genome.wustl.edu 37 11 108044204 108044204 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 108044204 108044204 C G SNP NPAT ENST00000278612 human ensembl 70_37 -1 known missense c.1507 p.D503H 0.759 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC NPC1 4864 genome.wustl.edu 37 18 21119727 21119727 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 21119727 21119727 G A SNP NPC1 ENST00000540608 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NPC1 HGNC NPHS1 4868 genome.wustl.edu 37 19 36339024 36339024 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 36339024 36339024 C T SNP NPHS1 ENST00000378910 human ensembl 70_37 -1 known silent c.1359 p.Q453 0.070 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NPHS1 HGNC NRK 203447 genome.wustl.edu 37 X 105132304 105132304 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 105132304 105132304 C T SNP NRK ENST00000428173 human ensembl 70_37 +1 known silent c.270 p.L90 0.906 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC NRXN1 9378 genome.wustl.edu 37 2 50149205 50149205 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 50149205 50149205 C G SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known missense c.4377 p.E1459D 1.000 smart_Neurexin-like pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC NSAP11 100131275 genome.wustl.edu 37 8 18590981 18590981 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 18590981 18590981 G A SNP NSAP11 ENST00000524252 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-161I2.1 Clone_based_vega_gene NSUN4 387338 genome.wustl.edu 37 1 46808639 46808639 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 46808639 46808639 G A SNP NSUN4 ENST00000498008 human ensembl 70_37 +1 known rna NULL NULL 0.071 - - - no_errors NSUN4 HGNC NTRK2 4915 genome.wustl.edu 37 9 87570324 87570324 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 87570324 87570324 C T SNP NTRK2 ENST00000277120 human ensembl 70_37 +1 known silent c.2064 p.F688 0.972 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC NUAK1 9891 genome.wustl.edu 37 12 106460991 106460991 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 106460991 106460991 C T SNP NUAK1 ENST00000261402 human ensembl 70_37 -1 known silent c.1575 p.L525 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK1 HGNC OGN 4969 genome.wustl.edu 37 9 95148528 95148528 + Silent SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 95148528 95148528 G T SNP OGN ENST00000262551 human ensembl 70_37 -1 known silent c.681 p.S227 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC OPA1 4976 genome.wustl.edu 37 3 193332657 193332657 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 193332657 193332657 C T SNP OPA1 ENST00000361510 human ensembl 70_37 +1 known nonsense c.178 p.Q60* 1.000 NULL pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin - no_errors OPA1 HGNC OPA1 4976 genome.wustl.edu 37 3 193355761 193355761 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 193355761 193355761 G C SNP OPA1 ENST00000361510 human ensembl 70_37 +1 known missense c.1056 p.Q352H 1.000 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin - no_errors OPA1 HGNC OR2M2 391194 genome.wustl.edu 37 1 248343443 248343443 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 248343443 248343443 C A SNP OR2M2 ENST00000359682 human ensembl 70_37 +1 known missense c.156 p.D52E 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC OR2W5 441932 genome.wustl.edu 37 1 247654732 247654732 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 247654732 247654732 C G SNP OR2W5 ENST00000522351 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors OR2W5 HGNC OR3A3 8392 genome.wustl.edu 37 17 3324577 3324577 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 3324577 3324577 C G SNP OR3A3 ENST00000291231 human ensembl 70_37 +1 known missense c.716 p.S239C 0.099 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A3 HGNC OR51F2 119694 genome.wustl.edu 37 11 4843349 4843349 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 4843349 4843349 C T SNP OR51F2 ENST00000322110 human ensembl 70_37 +1 known missense c.734 p.S245L 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F2 HGNC OR5P3 120066 genome.wustl.edu 37 11 7846834 7846834 + Missense_Mutation SNP T T C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 7846834 7846834 T C SNP OR5P3 ENST00000328375 human ensembl 70_37 -1 known missense c.686 p.H229R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC PABPC5 140886 genome.wustl.edu 37 X 90690973 90690973 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 90690973 90690973 C T SNP PABPC5 ENST00000312600 human ensembl 70_37 +1 known silent c.397 p.L133 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC PAK1 5058 genome.wustl.edu 37 11 77043794 77043794 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 77043794 77043794 G A SNP PAK1 ENST00000278568 human ensembl 70_37 -1 known missense c.1532 p.S511L 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,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK1 HGNC PAN3 255967 genome.wustl.edu 37 13 28794441 28794441 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 28794441 28794441 C G SNP PAN3 ENST00000380958 human ensembl 70_37 +1 known nonsense c.926 p.S309* 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom - no_errors PAN3 HGNC PANK1 53354 genome.wustl.edu 37 10 91404972 91404972 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 91404972 91404972 C G SNP PANK1 ENST00000307534 human ensembl 70_37 -1 known missense c.88 p.E30Q 1.000 NULL pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC PAX1 5075 genome.wustl.edu 37 20 21695220 21695220 + Silent SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 21695220 21695220 C A SNP PAX1 ENST00000398485 human ensembl 70_37 +1 known silent c.1384 p.R462 0.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC PCDH15 65217 genome.wustl.edu 37 10 55582403 55582403 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 55582403 55582403 C G SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known missense c.5083 p.E1695Q 0.969 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC PCDH19 57526 genome.wustl.edu 37 X 99662728 99662728 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 99662728 99662728 G A SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known nonsense c.868 p.Q290* 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 PCDH19 HGNC PCDH8 5100 genome.wustl.edu 37 13 53419040 53419040 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 53419040 53419040 C G SNP PCDH8 ENST00000377942 human ensembl 70_37 -1 known missense c.2868 p.K956N 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC PCDHB12 56124 genome.wustl.edu 37 5 140589396 140589396 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 140589396 140589396 C G SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known missense c.917 p.P306R 0.000 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 PCDHB12 HGNC PCDHGC4 56098 genome.wustl.edu 37 5 140865903 140865903 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 140865903 140865903 G A SNP PCDHGC4 ENST00000306593 human ensembl 70_37 +1 known missense c.1163 p.R388H 0.997 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 PCDHGC4 HGNC PCLO 27445 genome.wustl.edu 37 7 82580735 82580735 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 82580735 82580735 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.9169 p.G3057R 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCNT 5116 genome.wustl.edu 37 21 47836346 47836346 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 47836346 47836346 G C SNP PCNT ENST00000359568 human ensembl 70_37 +1 known missense c.6514 p.D2172H 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC PCNXL4 64430 genome.wustl.edu 37 14 60574948 60574948 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 60574948 60574948 G A SNP PCNXL4 ENST00000404681 human ensembl 70_37 +1 known missense c.592 p.E198K 1.000 NULL pfam_Pecanex - no_errors PCNXL4 HGNC PDE4DIP 9659 genome.wustl.edu 37 1 145074997 145074997 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 145074997 145074997 G A SNP PDE4DIP ENST00000369345 human ensembl 70_37 -1 putative silent c.297 p.I99 0.000 NULL NULL - no_errors PDE4DIP HGNC PDZD7 79955 genome.wustl.edu 37 10 102780424 102780424 + Silent SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 102780424 102780424 C A SNP PDZD7 ENST00000370215 human ensembl 70_37 -1 known silent c.879 p.R293 0.962 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC PER1 5187 genome.wustl.edu 37 17 8050872 8050872 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 8050872 8050872 G A SNP PER1 ENST00000317276 human ensembl 70_37 -1 known silent c.1413 p.F471 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC PER1 5187 genome.wustl.edu 37 17 8051105 8051105 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 8051105 8051105 G A SNP PER1 ENST00000317276 human ensembl 70_37 -1 known silent c.1275 p.I425 0.892 pfam_PAS_fold_3 pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC PGM2L1 283209 genome.wustl.edu 37 11 74085555 74085555 + Missense_Mutation SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 74085555 74085555 A G SNP PGM2L1 ENST00000298198 human ensembl 70_37 -1 known missense c.184 p.C62R 1.000 superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III - no_errors PGM2L1 HGNC PHF2 5253 genome.wustl.edu 37 9 96421802 96421802 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 96421802 96421802 G C SNP PHF2 ENST00000359246 human ensembl 70_37 +1 known missense c.1249 p.E417Q 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC PI4KAP2 375133 genome.wustl.edu 37 22 21842196 21842196 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 21842196 21842196 C G SNP PI4KAP2 ENST00000450651 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP2 HGNC PIKFYVE 200576 genome.wustl.edu 37 2 209136281 209136281 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 209136281 209136281 C T SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known missense c.38 p.S13F 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC PITPNM3 83394 genome.wustl.edu 37 17 6367192 6367192 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 6367192 6367192 C G SNP PITPNM3 ENST00000262483 human ensembl 70_37 -1 known missense c.2166 p.Q722H 1.000 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC PKMYT1 9088 genome.wustl.edu 37 16 3022752 3022752 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 3022752 3022752 G C SNP PKMYT1 ENST00000431515 human ensembl 70_37 -1 putative silent c.1392 p.V464 0.000 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 PKMYT1 HGNC PLA2G12B 84647 genome.wustl.edu 37 10 74695398 74695398 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 74695398 74695398 C G SNP PLA2G12B ENST00000373032 human ensembl 70_37 -1 known missense c.565 p.E189Q 1.000 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12B HGNC PLCE1 51196 genome.wustl.edu 37 10 96025689 96025689 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 96025689 96025689 G C SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.4255 p.E1419Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PLEKHD1 400224 genome.wustl.edu 37 14 69992774 69992774 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 69992774 69992774 C A SNP PLEKHD1 ENST00000322564 human ensembl 70_37 +1 known missense c.858 p.S286R 0.922 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC PLEKHH3 79990 genome.wustl.edu 37 17 40823481 40823481 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 40823481 40823481 G A SNP PLEKHH3 ENST00000591022 human ensembl 70_37 -1 known missense c.1172 p.S391L 0.980 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC PLEKHM1P 440456 genome.wustl.edu 37 17 62776322 62776322 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 62776322 62776322 G A SNP PLEKHM1P ENST00000578036 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLEKHM1P HGNC PLK3 1263 genome.wustl.edu 37 1 45267370 45267370 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 45267370 45267370 C T SNP PLK3 ENST00000372201 human ensembl 70_37 +1 known missense c.512 p.S171F 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,pfscan_Prot_kinase_cat_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 PLK3 HGNC PLXNA1 5361 genome.wustl.edu 37 3 126733396 126733396 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 126733396 126733396 G A SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known missense c.2680 p.E894K 0.983 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt 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 PLXNA1 HGNC PMFBP1 83449 genome.wustl.edu 37 16 72198702 72198702 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 72198702 72198702 G A SNP PMFBP1 ENST00000537465 human ensembl 70_37 -1 known silent c.126 p.D42 0.982 NULL NULL - no_errors PMFBP1 HGNC PNPLA6 10908 genome.wustl.edu 37 19 7618874 7618874 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 7618874 7618874 G C SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known missense c.2404 p.E802Q 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC POGZ 23126 genome.wustl.edu 37 1 151381262 151381262 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 151381262 151381262 G A SNP POGZ ENST00000271715 human ensembl 70_37 -1 known missense c.1969 p.L657F 1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC PPAP2B 8613 genome.wustl.edu 37 1 56962088 56962089 + RNA INS - - T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 56962088 56962089 - T INS PPAP2B ENST00000472957 human ensembl 70_37 -1 known rna NULL NULL 0.354:0.869 - - - no_errors PPAP2B HGNC PPP1R12B 4660 genome.wustl.edu 37 1 202399874 202399874 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 202399874 202399874 G C SNP PPP1R12B ENST00000336894 human ensembl 70_37 +1 known missense c.937 p.E313Q 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC PPP1R26 9858 genome.wustl.edu 37 9 138377333 138377333 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 138377333 138377333 G A SNP PPP1R26 ENST00000356818 human ensembl 70_37 +1 known missense c.977 p.R326H 0.000 NULL NULL - no_errors PPP1R26 HGNC PPP1R37 284352 genome.wustl.edu 37 19 45648494 45648494 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 45648494 45648494 C T SNP PPP1R37 ENST00000221462 human ensembl 70_37 +1 known silent c.1272 p.L424 0.003 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC PRAMEF18 391003 genome.wustl.edu 37 1 13475010 13475010 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 13475010 13475010 C T SNP PRAMEF18 ENST00000376126 human ensembl 70_37 -1 known silent c.1119 p.L373 0.955 NULL NULL - no_errors PRAMEF18 HGNC PRKCA 5578 genome.wustl.edu 37 17 64685163 64685163 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 64685163 64685163 G A SNP PRKCA ENST00000413366 human ensembl 70_37 +1 known missense c.916 p.E306K 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC PRL 5617 genome.wustl.edu 37 6 22294655 22294655 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 22294655 22294655 C G SNP PRL ENST00000306482 human ensembl 70_37 -1 known missense c.187 p.E63Q 0.992 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC PRND 23627 genome.wustl.edu 37 20 4705593 4705593 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 4705593 4705593 C G SNP PRND ENST00000305817 human ensembl 70_37 +1 known silent c.396 p.L132 0.324 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC PROP1 5626 genome.wustl.edu 37 5 177419783 177419783 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 177419783 177419783 G A SNP PROP1 ENST00000308304 human ensembl 70_37 -1 known missense c.608 p.A203V 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors PROP1 HGNC PRSS23 11098 genome.wustl.edu 37 11 86519623 86519623 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 86519623 86519623 C T SNP PRSS23 ENST00000280258 human ensembl 70_37 +1 known missense c.938 p.P313L 1.000 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors PRSS23 HGNC PSIP1 11168 genome.wustl.edu 37 9 15510234 15510234 + RNA SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 15510234 15510234 G C SNP PSIP1 ENST00000463712 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSIP1 HGNC PTCHD2 57540 genome.wustl.edu 37 1 11579820 11579820 + Nonsense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 11579820 11579820 G T SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known nonsense c.2083 p.E695* 0.007 pfam_Patched pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC PTGER4 5734 genome.wustl.edu 37 5 40681884 40681884 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 40681884 40681884 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known silent c.789 p.I263 0.845 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC PTPN13 5783 genome.wustl.edu 37 4 87638211 87638211 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 87638211 87638211 C T SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known silent c.1326 p.S442 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC PTX3 5806 genome.wustl.edu 37 3 157154774 157154774 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 157154774 157154774 G A SNP PTX3 ENST00000295927 human ensembl 70_37 +1 known missense c.52 p.E18K 0.175 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_LamG-like,prints_Pentaxin - no_errors PTX3 HGNC PTX4 390667 genome.wustl.edu 37 16 1536174 1536174 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 1536174 1536174 G A SNP PTX4 ENST00000447419 human ensembl 70_37 -1 known silent c.1203 p.L401 0.657 pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC PUS10 150962 genome.wustl.edu 37 2 61175312 61175312 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 61175312 61175312 C G SNP PUS10 ENST00000316752 human ensembl 70_37 -1 known missense c.1317 p.K439N 0.996 superfamily_PsdUridine_synth_cat_dom superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC R3HDM4 91300 genome.wustl.edu 37 19 899468 899468 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 899468 899468 G A SNP R3HDM4 ENST00000361574 human ensembl 70_37 -1 known silent c.675 p.V225 0.630 pfscan_R3H_ss-bd pfscan_R3H_ss-bd - no_errors R3HDM4 HGNC RAB11FIP1 80223 genome.wustl.edu 37 8 37732367 37732367 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 37732367 37732367 C T SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known missense c.1288 p.E430K 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC RABEP2 79874 genome.wustl.edu 37 16 28935744 28935744 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 28935744 28935744 G A SNP RABEP2 ENST00000358201 human ensembl 70_37 -1 known missense c.254 p.S85L 0.994 pfam_Rabaptin_coiled-coil pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC RASSF2 9770 genome.wustl.edu 37 20 4770300 4770300 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 4770300 4770300 C T SNP RASSF2 ENST00000379376 human ensembl 70_37 -1 known missense c.581 p.R194H 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF2 HGNC RBM3 5935 genome.wustl.edu 37 X 48434070 48434070 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 48434070 48434070 C T SNP RBM3 ENST00000485213 human ensembl 70_37 +1 known rna NULL NULL 0.206 - - - no_errors RBM3 HGNC RBMX 27316 genome.wustl.edu 37 X 135961560 135961560 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 135961560 135961560 C G SNP RBMX ENST00000320676 human ensembl 70_37 -1 known missense c.27 p.K9N 1.000 smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC RBPMS 11030 genome.wustl.edu 37 8 30416465 30416465 + Nonstop_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 30416465 30416465 G T SNP RBPMS ENST00000320203 human ensembl 70_37 +1 known nonstop c.590 p.*197L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS HGNC RGAG4 340526 genome.wustl.edu 37 X 71349694 71349694 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 71349694 71349694 C T SNP RGAG4 ENST00000479991 human ensembl 70_37 -1 known missense c.1697 p.R566Q 0.107 NULL pfam_Retrotrans_gag - no_errors RGAG4 HGNC RGL1 23179 genome.wustl.edu 37 1 183861279 183861279 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 183861279 183861279 G A SNP RGL1 ENST00000304685 human ensembl 70_37 +1 known missense c.1229 p.R410Q 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC RIBC1 158787 genome.wustl.edu 37 X 53457907 53457907 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 53457907 53457907 C T SNP RIBC1 ENST00000375327 human ensembl 70_37 +1 known missense c.1111 p.H371Y 0.003 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC RIC8B 55188 genome.wustl.edu 37 12 107208551 107208551 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 107208551 107208551 C T SNP RIC8B ENST00000392837 human ensembl 70_37 +1 known silent c.210 p.L70 1.000 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8B HGNC RIF1 55183 genome.wustl.edu 37 2 152285401 152285401 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 152285401 152285401 G A SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known nonsense c.890 p.W297* 1.000 pfam_Rif1_N,superfamily_ARM-type_fold pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC RLTPR 146206 genome.wustl.edu 37 16 67688566 67688566 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 67688566 67688566 G C SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.3553 p.E1185Q 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC RLTPR 146206 genome.wustl.edu 37 16 67688786 67688786 + Nonsense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 67688786 67688786 G T SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known nonsense c.3688 p.E1230* 0.972 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC RNF11 26994 genome.wustl.edu 37 1 51737136 51737136 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 51737136 51737136 G A SNP RNF11 ENST00000486691 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RNF11 HGNC RNF111 54778 genome.wustl.edu 37 15 59344533 59344533 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 59344533 59344533 G C SNP RNF111 ENST00000434298 human ensembl 70_37 +1 known missense c.910 p.E304Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC RNF121 55298 genome.wustl.edu 37 11 71705867 71705867 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 71705867 71705867 G C SNP RNF121 ENST00000361756 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors RNF121 HGNC RNF220 55182 genome.wustl.edu 37 1 45115372 45115372 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 45115372 45115372 G C SNP RNF220 ENST00000355387 human ensembl 70_37 +1 known silent c.1485 p.L495 1.000 superfamily_Peptidase_M20_dimer superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC RNF43 54894 genome.wustl.edu 37 17 56434537 56434537 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 56434537 56434537 G A SNP RNF43 ENST00000581868 human ensembl 70_37 -1 putative missense c.2219 p.S740L 0.027 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC RP2 6102 genome.wustl.edu 37 X 46719528 46719528 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 46719528 46719528 C A SNP RP2 ENST00000218340 human ensembl 70_37 +1 known missense c.874 p.L292M 0.921 superfamily_Nucleoside_diP_kinase,pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC RP9 6100 genome.wustl.edu 37 7 33136969 33136969 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 33136969 33136969 G T SNP RP9 ENST00000297157 human ensembl 70_37 -1 known missense c.319 p.R107S 1.000 NULL NULL - no_errors RP9 HGNC RRM1 6240 genome.wustl.edu 37 11 4142936 4142936 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 4142936 4142936 G T SNP RRM1 ENST00000300738 human ensembl 70_37 +1 known missense c.979 p.D327Y 1.000 pfam_RNR_lg_C,tigrfam_NrdE_NrdA pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC RTEL1 51750 genome.wustl.edu 37 20 62320895 62320895 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 62320895 62320895 G T SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known missense c.1919 p.G640V 0.846 smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC RTTN 25914 genome.wustl.edu 37 18 67857917 67857917 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 67857917 67857917 G C SNP RTTN ENST00000255674 human ensembl 70_37 -1 known missense c.1046 p.S349C 0.844 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC RYR1 6261 genome.wustl.edu 37 19 38973965 38973965 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 38973965 38973965 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.4743 p.S1581 0.906 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC RYR3 6263 genome.wustl.edu 37 15 34130561 34130561 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 34130561 34130561 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.12380 p.A4127V 0.001 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SACS 26278 genome.wustl.edu 37 13 23907900 23907900 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 23907900 23907900 G A SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.10115 p.S3372L 1.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC SAFB 6294 genome.wustl.edu 37 19 5667852 5667852 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 5667852 5667852 G C SNP SAFB ENST00000588852 human ensembl 70_37 +1 known missense c.2579 p.G860A 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB HGNC SAG 6295 genome.wustl.edu 37 2 234229394 234229394 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 234229394 234229394 C T SNP SAG ENST00000409110 human ensembl 70_37 +1 known silent c.300 p.A100 0.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC SAGE1 55511 genome.wustl.edu 37 X 134989157 134989157 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 134989157 134989157 C T SNP SAGE1 ENST00000324447 human ensembl 70_37 +1 known missense c.809 p.S270L 0.045 NULL NULL - no_errors SAGE1 HGNC SAMD9 54809 genome.wustl.edu 37 7 92732753 92732753 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 92732753 92732753 C T SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.2658 p.M886I 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC SASS6 163786 genome.wustl.edu 37 1 100571329 100571329 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 100571329 100571329 C G SNP SASS6 ENST00000287482 human ensembl 70_37 -1 known silent c.1539 p.L513 0.388 NULL NULL - no_errors SASS6 HGNC SBNO2 22904 genome.wustl.edu 37 19 1119543 1119543 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 1119543 1119543 C G SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known missense c.1345 p.E449Q 1.000 NULL NULL - no_errors SBNO2 HGNC SCAF11 9169 genome.wustl.edu 37 12 46322156 46322156 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 46322156 46322156 G A SNP SCAF11 ENST00000369367 human ensembl 70_37 -1 known missense c.1328 p.S443F 0.986 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC SCAF8 22828 genome.wustl.edu 37 6 155114064 155114064 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 155114064 155114064 C T SNP SCAF8 ENST00000367186 human ensembl 70_37 +1 known silent c.627 p.V209 1.000 superfamily_ENTH_VHS pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC SCAND3 114821 genome.wustl.edu 37 6 28540339 28540339 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 28540339 28540339 G A SNP SCAND3 ENST00000452236 human ensembl 70_37 -1 known silent c.3327 p.F1109 0.999 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC SCN4A 6329 genome.wustl.edu 37 17 62019319 62019319 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 62019319 62019319 G A SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.4323 p.F1441 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC SCNN1A 6337 genome.wustl.edu 37 12 6457040 6457040 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 6457040 6457040 C T SNP SCNN1A ENST00000358945 human ensembl 70_37 -1 known silent c.2075 p.*692 0.992 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC SCNN1B 6338 genome.wustl.edu 37 16 23366649 23366649 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 23366649 23366649 C T SNP SCNN1B ENST00000307331 human ensembl 70_37 +1 known silent c.750 p.F250 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC SEC31A 22872 genome.wustl.edu 37 4 83740402 83740402 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 83740402 83740402 G A SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.3527 p.S1176L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC SELL 6402 genome.wustl.edu 37 1 169676572 169676572 + Nonsense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 169676572 169676572 G C SNP SELL ENST00000236147 human ensembl 70_37 -1 known nonsense c.530 p.S177* 0.861 pfam_EG-like_dom,smart_EG-like_dom,pirsf_L-selectin,pfscan_EG-like_dom pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC SERPIND1 3053 genome.wustl.edu 37 22 21134114 21134114 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 21134114 21134114 G C SNP SERPIND1 ENST00000215727 human ensembl 70_37 +1 known missense c.514 p.E172Q 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPIND1 HGNC SETX 23064 genome.wustl.edu 37 9 135205465 135205465 + Nonsense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 135205465 135205465 G C SNP SETX ENST00000372169 human ensembl 70_37 -1 known nonsense c.1520 p.S507* 0.372 NULL NULL - no_errors SETX HGNC SHKBP1 92799 genome.wustl.edu 37 19 41094630 41094630 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 41094630 41094630 C G SNP SHKBP1 ENST00000291842 human ensembl 70_37 +1 known missense c.1437 p.I479M 1.000 superfamily_WD40_repeat_dom pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC SIGLEC12 89858 genome.wustl.edu 37 19 52001271 52001271 + Splice_Site SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 52001271 52001271 C A SNP SIGLEC12 ENST00000291707 human ensembl 70_37 -1 known splice_site c.1405+1 e5+1 0.001 - - - no_errors SIGLEC12 HGNC SIPA1L1 26037 genome.wustl.edu 37 14 72176352 72176352 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 72176352 72176352 C T SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known silent c.4242 p.F1414 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC SIPA1L3 23094 genome.wustl.edu 37 19 38610012 38610012 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 38610012 38610012 C T SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known silent c.2358 p.F786 1.000 pfam_Rap_GAP,pfscan_Rap_GAP pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC SIRPG 55423 genome.wustl.edu 37 20 1615977 1615977 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 1615977 1615977 G A SNP SIRPG ENST00000303415 human ensembl 70_37 -1 known silent c.1017 p.V339 0.022 smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPG HGNC SLC12A1 6557 genome.wustl.edu 37 15 48539623 48539623 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 48539623 48539623 C T SNP SLC12A1 ENST00000380993 human ensembl 70_37 +1 known silent c.1650 p.L550 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC SLC17A9 63910 genome.wustl.edu 37 20 61598100 61598100 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 61598100 61598100 C G SNP SLC17A9 ENST00000488738 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC17A9 HGNC SLC20A2 6575 genome.wustl.edu 37 8 42294923 42294923 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 42294923 42294923 C T SNP SLC20A2 ENST00000342228 human ensembl 70_37 -1 known silent c.1107 p.E369 0.694 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC SLC22A6 9356 genome.wustl.edu 37 11 62744783 62744783 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 62744783 62744783 C T SNP SLC22A6 ENST00000377871 human ensembl 70_37 -1 known missense c.1438 p.E480K 0.999 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC SLC25A13 10165 genome.wustl.edu 37 7 95818668 95818668 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 95818668 95818668 C T SNP SLC25A13 ENST00000416240 human ensembl 70_37 -1 known missense c.871 p.E291K 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC SLC26A11 284129 genome.wustl.edu 37 17 78211333 78211333 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 78211333 78211333 G A SNP SLC26A11 ENST00000361193 human ensembl 70_37 +1 known missense c.925 p.G309R 0.999 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC SLC29A4 222962 genome.wustl.edu 37 7 5342455 5342455 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 5342455 5342455 C G SNP SLC29A4 ENST00000297195 human ensembl 70_37 +1 known nonsense c.1478 p.S493* 0.999 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC SLC39A3 29985 genome.wustl.edu 37 19 2732803 2732803 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 2732803 2732803 G C SNP SLC39A3 ENST00000269740 human ensembl 70_37 -1 known silent c.891 p.L297 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC SLC40A1 30061 genome.wustl.edu 37 2 190443129 190443129 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 190443129 190443129 G A SNP SLC40A1 ENST00000418714 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC40A1 HGNC SLC47A2 146802 genome.wustl.edu 37 17 19611826 19611826 + Nonsense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 19611826 19611826 G C SNP SLC47A2 ENST00000574239 human ensembl 70_37 -1 known nonsense c.572 p.S191* 0.000 NULL pfam_MATE - no_errors SLC47A2 HGNC SLC4A3 6508 genome.wustl.edu 37 2 220494063 220494063 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 220494063 220494063 G A SNP SLC4A3 ENST00000273063 human ensembl 70_37 +1 known missense c.415 p.E139K 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC SLC4A5 57835 genome.wustl.edu 37 2 74479361 74479361 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 74479361 74479361 C T SNP SLC4A5 ENST00000357822 human ensembl 70_37 -1 known missense c.1423 p.D475N 0.989 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC SLCO1B3 28234 genome.wustl.edu 37 12 21242987 21242987 + Silent SNP T T C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 21242987 21242987 T C SNP SLCO1B3 ENST00000553473 human ensembl 70_37 +1 known silent c.2194 p.L732 0.018 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC SLCO2A1 6578 genome.wustl.edu 37 3 133663963 133663963 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 133663963 133663963 C G SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known missense c.1437 p.M479I 0.001 pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC SND1 27044 genome.wustl.edu 37 7 127326700 127326700 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 127326700 127326700 C G SNP SND1 ENST00000354725 human ensembl 70_37 +1 known missense c.112 p.Q38E 1.000 superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC SNORD93 692210 genome.wustl.edu 37 7 22896271 22896271 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 22896271 22896271 C T SNP SNORD93 ENST00000408813 human ensembl 70_37 +1 known rna NULL NULL 0.865 - - - no_errors SNORD93 HGNC SNRPA1 6627 genome.wustl.edu 37 15 101832243 101832243 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 101832243 101832243 C T SNP SNRPA1 ENST00000254193 human ensembl 70_37 -1 known missense c.233 p.R78H 0.999 NULL smart_U2A'_phosphoprotein32A_C - no_errors SNRPA1 HGNC SOHLH1 402381 genome.wustl.edu 37 9 138590275 138590275 + Missense_Mutation SNP T T A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 138590275 138590275 T A SNP SOHLH1 ENST00000425225 human ensembl 70_37 -1 known missense c.245 p.Q82L 0.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SOHLH1 HGNC SPEN 23013 genome.wustl.edu 37 1 16242628 16242628 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 16242628 16242628 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.1249 p.E417K 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16242634 16242634 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 16242634 16242634 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.1255 p.E419K 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16264463 16264463 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 16264463 16264463 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.10666 p.E3556K 1.000 pfam_SPOC_C,superfamily_SPOC-like,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPINT1 6692 genome.wustl.edu 37 15 41149135 41149135 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 41149135 41149135 G A SNP SPINT1 ENST00000344051 human ensembl 70_37 +1 known missense c.1552 p.E518K 1.000 NULL pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT1 HGNC SPP1 6696 genome.wustl.edu 37 4 88901544 88901544 + Splice_Site SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 88901544 88901544 G C SNP SPP1 ENST00000395080 human ensembl 70_37 +1 known splice_site c.175-1 e4-1 0.984 - - - no_errors SPP1 HGNC SPR 6697 genome.wustl.edu 37 2 73118555 73118555 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 73118555 73118555 G A SNP SPR ENST00000234454 human ensembl 70_37 +1 known silent c.675 p.L225 0.524 tigrfam_Sepiapterin_red pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red - no_errors SPR HGNC SREBF2 6721 genome.wustl.edu 37 22 42267031 42267031 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 42267031 42267031 C T SNP SREBF2 ENST00000361204 human ensembl 70_37 +1 known nonsense c.859 p.Q287* 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SREBF2 HGNC SST 6750 genome.wustl.edu 37 3 187388066 187388066 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 187388066 187388066 C T SNP SST ENST00000287641 human ensembl 70_37 -1 known missense c.14 p.R5H 1.000 pirsf_Somatostatin pfam_Somatostatin/Cortistatin_C,pirsf_Somatostatin - no_errors SST HGNC ST3GAL3 6487 genome.wustl.edu 37 1 44386147 44386147 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 44386147 44386147 C T SNP ST3GAL3 ENST00000335430 human ensembl 70_37 +1 known missense c.581 p.S194L 1.000 NULL pfam_Glyco_trans_29 - no_errors ST3GAL3 HGNC STXBP5 134957 genome.wustl.edu 37 6 147660514 147660514 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 147660514 147660514 G C SNP STXBP5 ENST00000321680 human ensembl 70_37 +1 known missense c.2248 p.D750H 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC SYNE1 23345 genome.wustl.edu 37 6 152576212 152576212 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 152576212 152576212 C G SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.19273 p.D6425H 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE2 23224 genome.wustl.edu 37 14 64644154 64644154 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 64644154 64644154 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.17509 p.L5837F 1.000 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 SYNE2 23224 genome.wustl.edu 37 14 64691728 64691728 + Nonsense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 64691728 64691728 G T SNP SYNE2 ENST00000554584 human ensembl 70_37 +1 novel nonsense c.20176 p.E6726* 0.000 NULL pfam_CH-domain,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_Calpain_domain_III,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors SYNE2 HGNC SYT14 255928 genome.wustl.edu 37 1 210111619 210111619 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 210111619 210111619 G C SNP SYT14 ENST00000422431 human ensembl 70_37 +1 known missense c.24 p.L8F 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT14 HGNC SYT6 148281 genome.wustl.edu 37 1 114680163 114680163 + Missense_Mutation SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 114680163 114680163 A G SNP SYT6 ENST00000369545 human ensembl 70_37 -1 known missense c.1025 p.L342P 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep 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 SYT6 HGNC TAF15 8148 genome.wustl.edu 37 17 34173922 34173922 + Missense_Mutation SNP A A T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 34173922 34173922 A T SNP TAF15 ENST00000588240 human ensembl 70_37 +1 known missense c.1752 p.R584S 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC TAF1L 138474 genome.wustl.edu 37 9 32632175 32632175 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 32632175 32632175 G C SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.3403 p.Q1135E 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC TCF19 6941 genome.wustl.edu 37 6 31129531 31129531 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 31129531 31129531 C T SNP TCF19 ENST00000376255 human ensembl 70_37 +1 known silent c.546 p.L182 1.000 NULL pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC TDH 157739 genome.wustl.edu 37 8 11223212 11223212 + RNA SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 11223212 11223212 G C SNP TDH ENST00000525246 human ensembl 70_37 +1 known rna NULL NULL 0.625 - - - no_errors TDH HGNC TEKT2 27285 genome.wustl.edu 37 1 36550612 36550612 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 36550612 36550612 G A SNP TEKT2 ENST00000207457 human ensembl 70_37 +1 known silent c.90 p.L30 0.811 pfam_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC TENM3 55714 genome.wustl.edu 37 4 183271042 183271042 + RNA SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 183271042 183271042 G C SNP TENM3 ENST00000513201 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TENM3 HGNC TEX15 56154 genome.wustl.edu 37 8 30701580 30701580 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 30701580 30701580 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.4954 p.E1652Q 1.000 NULL NULL - no_errors TEX15 HGNC TFPI 7035 genome.wustl.edu 37 2 188331689 188331689 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 188331689 188331689 C T SNP TFPI ENST00000233156 human ensembl 70_37 -1 known missense c.889 p.E297K 0.628 pirsf_Prot_inhib_I2_TFPI pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors TFPI HGNC TFPI2 7980 genome.wustl.edu 37 7 93519487 93519487 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 93519487 93519487 G T SNP TFPI2 ENST00000222543 human ensembl 70_37 -1 known missense c.233 p.T78N 0.038 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors TFPI2 HGNC TGFB1I1 7041 genome.wustl.edu 37 16 31486025 31486025 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 31486025 31486025 C T SNP TGFB1I1 ENST00000394863 human ensembl 70_37 +1 known missense c.661 p.P221S 0.998 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC TKTL1 8277 genome.wustl.edu 37 X 153524225 153524225 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 153524225 153524225 G A SNP TKTL1 ENST00000369915 human ensembl 70_37 +1 known missense c.13 p.E5K 0.024 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC TLR3 7098 genome.wustl.edu 37 4 187004056 187004056 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 187004056 187004056 C T SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known missense c.1216 p.H406Y 0.057 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC TMBIM4 51643 genome.wustl.edu 37 12 66563707 66563707 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 66563707 66563707 G A SNP TMBIM4 ENST00000358230 human ensembl 70_37 -1 known missense c.25 p.P9S 1.000 NULL pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC TMC8 147138 genome.wustl.edu 37 17 76128447 76128447 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 76128447 76128447 C G SNP TMC8 ENST00000318430 human ensembl 70_37 +1 known missense c.306 p.F102L 0.978 NULL pfam_TMC - no_errors TMC8 HGNC TMC8 147138 genome.wustl.edu 37 17 76130600 76130600 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 76130600 76130600 C G SNP TMC8 ENST00000318430 human ensembl 70_37 +1 known missense c.942 p.I314M 0.999 NULL pfam_TMC - no_errors TMC8 HGNC TMEM233 387890 genome.wustl.edu 37 12 120067563 120067563 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 120067563 120067563 G C SNP TMEM233 ENST00000426426 human ensembl 70_37 +1 known missense c.209 p.G70A 0.995 pfam_Interferon-induced_TM_protein pfam_Interferon-induced_TM_protein - no_errors TMEM233 HGNC TMEM44 93109 genome.wustl.edu 37 3 194337995 194337995 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 194337995 194337995 G A SNP TMEM44 ENST00000392432 human ensembl 70_37 -1 known missense c.757 p.R253W 0.923 NULL NULL - no_errors TMEM44 HGNC TMEM74 157753 genome.wustl.edu 37 8 109797062 109797062 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 109797062 109797062 C T SNP TMEM74 ENST00000297459 human ensembl 70_37 -1 known missense c.266 p.G89E 0.776 NULL NULL - no_errors TMEM74 HGNC TMPRSS15 5651 genome.wustl.edu 37 21 19701525 19701525 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 19701525 19701525 C G SNP TMPRSS15 ENST00000284885 human ensembl 70_37 -1 known missense c.1741 p.E581Q 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS15 HGNC TMPRSS6 164656 genome.wustl.edu 37 22 37471306 37471306 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 37471306 37471306 C T SNP TMPRSS6 ENST00000381792 human ensembl 70_37 -1 known missense c.1211 p.R404H 1.000 pirsf_Pept_S1A_matriptase-2,superfamily_CUB,pfscan_CUB pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS6 HGNC TNFRSF10D 8793 genome.wustl.edu 37 8 23021422 23021422 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 23021422 23021422 C T SNP TNFRSF10D ENST00000312584 human ensembl 70_37 -1 known silent c.27 p.P9 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10D HGNC TNIK 23043 genome.wustl.edu 37 3 170841401 170841401 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 170841401 170841401 G A SNP TNIK ENST00000436636 human ensembl 70_37 -1 known nonsense c.2104 p.Q702* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC TNKS1BP1 85456 genome.wustl.edu 37 11 57077101 57077101 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 57077101 57077101 G A SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known silent c.3084 p.F1028 0.000 NULL NULL - no_errors TNKS1BP1 HGNC TNS4 84951 genome.wustl.edu 37 17 38644991 38644991 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 38644991 38644991 G A SNP TNS4 ENST00000254051 human ensembl 70_37 -1 known nonsense c.670 p.R224* 0.068 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC TP53BP1 7158 genome.wustl.edu 37 15 43783907 43783907 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 43783907 43783907 G C SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.331 p.Q111E 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC TPT1-AS1 100190939 genome.wustl.edu 37 13 45965271 45965271 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 45965271 45965271 G A SNP TPT1-AS1 ENST00000379050 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TPT1-AS1 HGNC TRIM16 10626 genome.wustl.edu 37 17 15535892 15535892 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 15535892 15535892 C T SNP TRIM16 ENST00000336708 human ensembl 70_37 -1 known missense c.946 p.E316K 0.991 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC TRIP12 9320 genome.wustl.edu 37 2 230667174 230667174 + Silent SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 230667174 230667174 A G SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known silent c.2775 p.G925 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC TRPC7 57113 genome.wustl.edu 37 5 135567044 135567044 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 135567044 135567044 C G SNP TRPC7 ENST00000513104 human ensembl 70_37 -1 known missense c.2038 p.E680Q 1.000 prints_TRPC_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,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC TTC18 118491 genome.wustl.edu 37 10 75071636 75071636 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 75071636 75071636 G C SNP TTC18 ENST00000310715 human ensembl 70_37 -1 known missense c.1330 p.P444A 0.989 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC TTC40 54777 genome.wustl.edu 37 10 134627759 134627759 + Splice_Site SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 134627759 134627759 C T SNP TTC40 ENST00000263170 human ensembl 70_37 -1 known splice_site c.1769-1 e16-1 0.853 - - - no_errors TTC40 HGNC TTLL10-AS1 100506376 genome.wustl.edu 37 1 1114911 1114911 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 1114911 1114911 C T SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TTLL10-AS1 HGNC TTN 7273 genome.wustl.edu 37 2 179432591 179432591 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 179432591 179432591 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.70564 p.D23522N 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 UBASH3B 84959 genome.wustl.edu 37 11 122680574 122680574 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 122680574 122680574 G C SNP UBASH3B ENST00000284273 human ensembl 70_37 +1 known missense c.1930 p.E644Q 1.000 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC UBC 7316 genome.wustl.edu 37 12 125396452 125396452 + Silent SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 125396452 125396452 G T SNP UBC ENST00000339647 human ensembl 70_37 -1 known silent c.1866 p.T622 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC UBE4A 9354 genome.wustl.edu 37 11 118247314 118247314 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 118247314 118247314 C T SNP UBE4A ENST00000431736 human ensembl 70_37 +1 known silent c.1497 p.I499 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC UBR2 23304 genome.wustl.edu 37 6 42646299 42646299 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 42646299 42646299 G A SNP UBR2 ENST00000372899 human ensembl 70_37 +1 known missense c.4501 p.G1501S 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC UFL1 23376 genome.wustl.edu 37 6 96996144 96996144 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 96996144 96996144 G C SNP UFL1 ENST00000369278 human ensembl 70_37 +1 known missense c.1507 p.E503Q 0.997 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC UNC13A 23025 genome.wustl.edu 37 19 17756547 17756547 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 17756547 17756547 G A SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known silent c.2556 p.F852 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC UNC13C 440279 genome.wustl.edu 37 15 54307226 54307226 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 54307226 54307226 C T SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known missense c.2126 p.S709L 0.996 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC UNC13C 440279 genome.wustl.edu 37 15 54307319 54307319 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 54307319 54307319 C T SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known missense c.2219 p.S740F 0.985 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC UNC45A 55898 genome.wustl.edu 37 15 91479682 91479682 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 91479682 91479682 C T SNP UNC45A ENST00000418476 human ensembl 70_37 +1 known nonsense c.418 p.Q140* 1.000 NULL pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC USP15 9958 genome.wustl.edu 37 12 62798108 62798108 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 62798108 62798108 G C SNP USP15 ENST00000280377 human ensembl 70_37 +1 known missense c.2899 p.D967H 1.000 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC USP51 158880 genome.wustl.edu 37 X 55514409 55514409 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 55514409 55514409 G A SNP USP51 ENST00000500968 human ensembl 70_37 -1 known nonsense c.964 p.Q322* 0.871 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC VAV1 7409 genome.wustl.edu 37 19 6828096 6828096 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 6828096 6828096 C T SNP VAV1 ENST00000602142 human ensembl 70_37 +1 known nonsense c.937 p.Q313* 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC VCAN 1462 genome.wustl.edu 37 5 82876341 82876341 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 82876341 82876341 C T SNP VCAN ENST00000513016 human ensembl 70_37 +1 known rna NULL NULL 0.972 - - - no_errors VCAN HGNC VCPIP1 80124 genome.wustl.edu 37 8 67577840 67577840 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 67577840 67577840 C G SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known missense c.1354 p.E452Q 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC VCX3B 425054 genome.wustl.edu 37 X 8434034 8434034 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 8434034 8434034 G C SNP VCX3B ENST00000444481 human ensembl 70_37 +1 known missense c.351 p.E117D 0.001 NULL NULL - no_errors VCX3B HGNC VPS13B 157680 genome.wustl.edu 37 8 100712049 100712049 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 100712049 100712049 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known nonsense c.6418 p.Q2140* 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC VPS33B 26276 genome.wustl.edu 37 15 91549239 91549239 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 91549239 91549239 C T SNP VPS33B ENST00000333371 human ensembl 70_37 -1 known silent c.903 p.L301 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC VPS8 23355 genome.wustl.edu 37 3 184642661 184642661 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 184642661 184642661 G A SNP VPS8 ENST00000287546 human ensembl 70_37 +1 known silent c.2466 p.E822 1.000 superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC VWA5B2 90113 genome.wustl.edu 37 3 183951032 183951032 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 183951032 183951032 C T SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known missense c.377 p.A126V 0.790 NULL NULL - no_errors VWA5B2 HGNC VWA5B2 90113 genome.wustl.edu 37 3 183953000 183953000 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 183953000 183953000 G A SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known silent c.1005 p.L335 1.000 NULL NULL - no_errors VWA5B2 HGNC WASF2 10163 genome.wustl.edu 37 1 27742548 27742548 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 27742548 27742548 G C SNP WASF2 ENST00000430629 human ensembl 70_37 -1 known missense c.468 p.F156L 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC WASL 8976 genome.wustl.edu 37 7 123388786 123388786 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 123388786 123388786 C T SNP WASL ENST00000223023 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WASL HGNC WDFY2 115825 genome.wustl.edu 37 13 52293346 52293346 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 52293346 52293346 G C SNP WDFY2 ENST00000298125 human ensembl 70_37 +1 known missense c.347 p.R116T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC WDR11 55717 genome.wustl.edu 37 10 122664255 122664255 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 122664255 122664255 C T SNP WDR11 ENST00000263461 human ensembl 70_37 +1 known missense c.3125 p.S1042L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC WDR27 253769 genome.wustl.edu 37 6 170043795 170043795 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 170043795 170043795 G A SNP WDR27 ENST00000448612 human ensembl 70_37 -1 known missense c.1745 p.S582L 0.928 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC WFS1 7466 genome.wustl.edu 37 4 6279366 6279366 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 6279366 6279366 G A SNP WFS1 ENST00000226760 human ensembl 70_37 +1 known missense c.184 p.E62K 0.000 NULL NULL - no_errors WFS1 HGNC WHAMM 123720 genome.wustl.edu 37 15 83499688 83499688 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 83499688 83499688 G A SNP WHAMM ENST00000286760 human ensembl 70_37 +1 known missense c.1979 p.R660H 0.038 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC WIPF1 7456 genome.wustl.edu 37 2 175436510 175436510 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 175436510 175436510 G C SNP WIPF1 ENST00000272746 human ensembl 70_37 -1 known silent c.1023 p.L341 0.003 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC WNK3 65267 genome.wustl.edu 37 X 54278033 54278033 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 54278033 54278033 G A SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.2455 p.H819Y 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC WRNIP1 56897 genome.wustl.edu 37 6 2779572 2779572 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 2779572 2779572 G A SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known silent c.1332 p.L444 0.994 NULL pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC WWOX 51741 genome.wustl.edu 37 16 78466537 78466537 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 78466537 78466537 G A SNP WWOX ENST00000566780 human ensembl 70_37 +1 known missense c.944 p.G315E 1.000 prints_Glc/ribitol_DH pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC XIST 7503 genome.wustl.edu 37 X 73043746 73043746 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 73043746 73043746 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC XIST 7503 genome.wustl.edu 37 X 73064199 73064199 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 73064199 73064199 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC XIST 7503 genome.wustl.edu 37 X 73072124 73072124 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 73072124 73072124 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors XIST HGNC ZAK 51776 genome.wustl.edu 37 2 174086208 174086208 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 174086208 174086208 G A SNP ZAK ENST00000338983 human ensembl 70_37 +1 known missense c.1318 p.D440N 1.000 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 MLTK Uniprot_genename ZAN 7455 genome.wustl.edu 37 7 100391775 100391775 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 100391775 100391775 C G SNP ZAN ENST00000546213 human ensembl 70_37 +1 known missense c.3133 p.Q1045E 0.890 smart_VWC_out pfam_VWF_type-D,pfam_TIL_dom,pfam_Unchr_dom_Cys-rich,pfam_EG-like_dom,superfamily_TIL_dom,smart_EG-like_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_EG-like_dom - no_errors ZAN HGNC ZBBX 79740 genome.wustl.edu 37 3 167090681 167090681 + Silent SNP T T C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 167090681 167090681 T C SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known silent c.9 p.R3 1.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ZBP1 81030 genome.wustl.edu 37 20 56191472 56191472 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 56191472 56191472 C T SNP ZBP1 ENST00000343535 human ensembl 70_37 -1 known silent c.87 p.V29 0.018 pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ZC3H11A 9877 genome.wustl.edu 37 1 203771389 203771389 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 203771389 203771389 C T SNP ZC3H11A ENST00000461980 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZC3H11A HGNC ZCCHC6 79670 genome.wustl.edu 37 9 88967805 88967805 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 88967805 88967805 C G SNP ZCCHC6 ENST00000375963 human ensembl 70_37 -1 known missense c.310 p.D104H 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ZCCHC8 55596 genome.wustl.edu 37 12 122962766 122962766 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 122962766 122962766 G C SNP ZCCHC8 ENST00000336229 human ensembl 70_37 -1 known missense c.1214 p.S405C 1.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ZFHX2 85446 genome.wustl.edu 37 14 23993993 23993993 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 23993993 23993993 C T SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.5158 p.E1720K 0.988 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ZFHX3 463 genome.wustl.edu 37 16 72829029 72829029 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 72829029 72829029 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known nonsense c.7552 p.Q2518* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFHX4 79776 genome.wustl.edu 37 8 77766172 77766172 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 77766172 77766172 G A SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.7015 p.E2339K 1.000 pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ZMPSTE24 10269 genome.wustl.edu 37 1 40723960 40723960 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 40723960 40723960 C A SNP ZMPSTE24 ENST00000372759 human ensembl 70_37 +1 known nonsense c.17 p.S6* 1.000 NULL pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ZMYM3 9203 genome.wustl.edu 37 X 70461085 70461085 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 70461085 70461085 G A SNP ZMYM3 ENST00000373988 human ensembl 70_37 -1 known silent c.3918 p.L1306 1.000 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ZNF14 7561 genome.wustl.edu 37 19 19822274 19822274 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 19822274 19822274 C T SNP ZNF14 ENST00000344099 human ensembl 70_37 -1 known missense c.1816 p.E606K 0.927 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF14 HGNC ZNF185 7739 genome.wustl.edu 37 X 152106656 152106656 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 152106656 152106656 G T SNP ZNF185 ENST00000535861 human ensembl 70_37 +1 known missense c.1253 p.R418M 0.215 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ZNF350 59348 genome.wustl.edu 37 19 52468865 52468865 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 52468865 52468865 G A SNP ZNF350 ENST00000243644 human ensembl 70_37 -1 known nonsense c.841 p.Q281* 0.004 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ZNF350 59348 genome.wustl.edu 37 19 52469366 52469366 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 52469366 52469366 G A SNP ZNF350 ENST00000243644 human ensembl 70_37 -1 known missense c.340 p.H114Y 0.123 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ZNF365 22891 genome.wustl.edu 37 10 64429980 64429980 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 64429980 64429980 C G SNP ZNF365 ENST00000410046 human ensembl 70_37 +1 known missense c.1308 p.I436M 0.007 NULL NULL - no_errors ZNF365 HGNC ZNF439 90594 genome.wustl.edu 37 19 11978581 11978581 + Nonsense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 11978581 11978581 G T SNP ZNF439 ENST00000304030 human ensembl 70_37 +1 known nonsense c.697 p.E233* 0.537 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF439 HGNC ZNF483 158399 genome.wustl.edu 37 9 114296561 114296561 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 114296561 114296561 G A SNP ZNF483 ENST00000309235 human ensembl 70_37 +1 known missense c.649 p.E217K 0.097 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ZNF493 284443 genome.wustl.edu 37 19 21606171 21606171 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 21606171 21606171 C T SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known missense c.326 p.S109F 0.825 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ZNF521 25925 genome.wustl.edu 37 18 22806495 22806495 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 22806495 22806495 G C SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.1387 p.Q463E 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ZNF525 170958 genome.wustl.edu 37 19 53884991 53884991 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 53884991 53884991 G A SNP ZNF525 ENST00000355326 human ensembl 70_37 +1 known missense c.313 p.D105N 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ZNF534 147658 genome.wustl.edu 37 19 52954654 52954654 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 52954654 52954654 C T SNP ZNF534 ENST00000301085 human ensembl 70_37 +1 putative silent c.486 p.L162 0.003 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ZNF71 58491 genome.wustl.edu 37 19 57133912 57133912 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 57133912 57133912 C T SNP ZNF71 ENST00000328070 human ensembl 70_37 +1 known silent c.1257 p.F419 0.971 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ZNF75D 7626 genome.wustl.edu 37 X 134427773 134427773 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 134427773 134427773 C T SNP ZNF75D ENST00000370766 human ensembl 70_37 -1 known silent c.294 p.L98 0.790 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ZNF761 388561 genome.wustl.edu 37 19 53958186 53958186 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 53958186 53958186 C T SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.047 - - - no_errors ZNF761 HGNC ZNF781 163115 genome.wustl.edu 37 19 38160922 38160922 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 38160922 38160922 C G SNP ZNF781 ENST00000358582 human ensembl 70_37 -1 known missense c.128 p.R43T 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF781 HGNC ZNF81 347344 genome.wustl.edu 37 X 47774737 47774737 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 47774737 47774737 C A SNP ZNF81 ENST00000338637 human ensembl 70_37 +1 known missense c.692 p.S231Y 0.041 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ZNF81 347344 genome.wustl.edu 37 X 47775374 47775374 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 47775374 47775374 C T SNP ZNF81 ENST00000338637 human ensembl 70_37 +1 known silent c.1329 p.I443 0.168 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ZNF816-ZNF321P 100529240 genome.wustl.edu 37 19 53431737 53431737 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 53431737 53431737 C T SNP ZNF816-ZNF321P ENST00000313956 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors ZNF816-ZNF321P HGNC ZNF865 100507290 genome.wustl.edu 37 19 56126747 56126747 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 56126747 56126747 G A SNP ZNF865 ENST00000568956 human ensembl 70_37 +1 novel missense c.1763 p.R588H 0.770 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ZNF890P 645700 genome.wustl.edu 37 7 5167329 5167329 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 5167329 5167329 C G SNP ZNF890P ENST00000422060 human ensembl 70_37 -1 known rna NULL NULL 0.807 - - - no_errors ZNF890P HGNC ZSWIM3 140831 genome.wustl.edu 37 20 44506550 44506550 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 44506550 44506550 G A SNP ZSWIM3 ENST00000255152 human ensembl 70_37 +1 known silent c.1353 p.L451 0.000 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ZYG11B 79699 genome.wustl.edu 37 1 53237052 53237052 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 53237052 53237052 C G SNP ZYG11B ENST00000294353 human ensembl 70_37 +1 known missense c.557 p.P186R 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11B HGNC