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 ABCA12 26154 genome.wustl.edu 37 2 215876718 215876718 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 215876718 215876718 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.2098 p.P700S 0.952 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA12 26154 genome.wustl.edu 37 2 215876718 215876718 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 215876718 215876718 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.2098 p.P700S 0.952 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABHD14B 84836 genome.wustl.edu 37 3 52003448 52003448 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 52003448 52003448 G A SNP ABHD14B ENST00000361143 human ensembl 70_37 -1 known silent c.627 p.L209 0.071 NULL NULL - no_errors ABHD14B HGNC ABHD14B 84836 genome.wustl.edu 37 3 52003448 52003448 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 52003448 52003448 G A SNP ABHD14B ENST00000361143 human ensembl 70_37 -1 known silent c.627 p.L209 0.071 NULL NULL - no_errors ABHD14B HGNC ABHD14B 84836 genome.wustl.edu 37 3 52003871 52003871 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 52003871 52003871 G A SNP ABHD14B ENST00000461108 human ensembl 70_37 -1 putative nonsense c.541 p.Q181* 0.002 NULL NULL - no_errors ABHD14B HGNC ABHD14B 84836 genome.wustl.edu 37 3 52003871 52003871 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 52003871 52003871 G A SNP ABHD14B ENST00000461108 human ensembl 70_37 -1 putative nonsense c.541 p.Q181* 0.002 NULL NULL - no_errors ABHD14B HGNC ACO1 48 genome.wustl.edu 37 9 32419137 32419137 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 32419137 32419137 C G SNP ACO1 ENST00000309951 human ensembl 70_37 +1 known missense c.760 p.L254V 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ADCY5 111 genome.wustl.edu 37 3 123046604 123046604 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 123046604 123046604 C T SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known missense c.1808 p.R603H 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC PHYKPL 85007 genome.wustl.edu 37 5 177641849 177641849 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 177641849 177641849 C G SNP AGXT2L2 ENST00000308158 human ensembl 70_37 -1 known missense c.1120 p.D374H 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L2 HGNC PHYKPL 85007 genome.wustl.edu 37 5 177641849 177641849 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 177641849 177641849 C G SNP AGXT2L2 ENST00000308158 human ensembl 70_37 -1 known missense c.1120 p.D374H 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L2 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247028619 247028619 + RNA SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 247028619 247028619 G T SNP AHCTF1 ENST00000470300 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AHCTF1 HGNC AKAP13 11214 genome.wustl.edu 37 15 86076934 86076934 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 86076934 86076934 C G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.301 p.Q101E 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AKAP13 11214 genome.wustl.edu 37 15 86076934 86076934 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 86076934 86076934 C G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.301 p.Q101E 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AKAP17A 8227 genome.wustl.edu 37 X 1719891 1719891 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 1719891 1719891 G C SNP AKAP17A ENST00000313871 human ensembl 70_37 +1 known missense c.1492 p.E498Q 0.001 NULL NULL - no_errors AKAP17A HGNC AKAP17A 8227 genome.wustl.edu 37 X 1719891 1719891 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 1719891 1719891 G C SNP AKAP17A ENST00000313871 human ensembl 70_37 +1 known missense c.1492 p.E498Q 0.001 NULL NULL - no_errors AKAP17A HGNC AKAP6 9472 genome.wustl.edu 37 14 33290861 33290861 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 33290861 33290861 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.3842 p.S1281C 0.993 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC AKAP6 9472 genome.wustl.edu 37 14 33290861 33290861 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 33290861 33290861 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.3842 p.S1281C 0.993 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC AKT3 10000 genome.wustl.edu 37 1 243952039 243952039 + RNA SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 243952039 243952039 T C SNP AKT3 ENST00000550388 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors AKT3 HGNC AMPH 273 genome.wustl.edu 37 7 38432237 38432237 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 38432237 38432237 G A SNP AMPH ENST00000460887 human ensembl 70_37 -1 known rna NULL NULL 0.019 - - - no_errors AMPH HGNC ANKRD26 22852 genome.wustl.edu 37 10 27335121 27335121 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 27335121 27335121 G A SNP ANKRD26 ENST00000490015 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ANKRD26 HGNC ARFGEF2 10564 genome.wustl.edu 37 20 47592587 47592587 + Silent SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 47592587 47592587 T C SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known silent c.1809 p.D603 0.002 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ARFGEF2 10564 genome.wustl.edu 37 20 47592587 47592587 + Silent SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 47592587 47592587 T C SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known silent c.1809 p.D603 0.002 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ARHGAP21 57584 genome.wustl.edu 37 10 24909044 24909044 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 24909044 24909044 G A SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known nonsense c.1780 p.Q594* 0.051 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ARHGAP21 57584 genome.wustl.edu 37 10 24909044 24909044 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 24909044 24909044 G A SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known nonsense c.1780 p.Q594* 0.051 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ARHGAP5 394 genome.wustl.edu 37 14 32615493 32615493 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 32615493 32615493 G T SNP ARHGAP5 ENST00000345122 human ensembl 70_37 +1 known missense c.3890 p.R1297L 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ARHGAP5 394 genome.wustl.edu 37 14 32615493 32615493 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 32615493 32615493 G T SNP ARHGAP5 ENST00000345122 human ensembl 70_37 +1 known missense c.3890 p.R1297L 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ARHGEF5 7984 genome.wustl.edu 37 7 144060156 144060156 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 144060156 144060156 G C SNP ARHGEF5 ENST00000056217 human ensembl 70_37 +1 known missense c.394 p.E132Q 0.001 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ASB16-AS1 339201 genome.wustl.edu 37 17 42253983 42253983 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 42253983 42253983 C T SNP ASB16-AS1 ENST00000585457 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTB-175E5.4 Clone_based_vega_gene ASB16-AS1 339201 genome.wustl.edu 37 17 42253983 42253983 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 42253983 42253983 C T SNP ASB16-AS1 ENST00000585457 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTB-175E5.4 Clone_based_vega_gene ASH1L-AS1 645676 genome.wustl.edu 37 1 155533434 155533434 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 155533434 155533434 G A SNP ASH1L-AS1 ENST00000452809 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ASH1L-AS1 HGNC ATP6V0E2 155066 genome.wustl.edu 37 7 149571220 149571220 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 149571220 149571220 C T SNP ATP6V0E2 ENST00000421974 human ensembl 70_37 +1 known silent c.213 p.I71 1.000 pfam_ATPase_V0-cplx_esu pfam_ATPase_V0-cplx_esu - no_errors ATP6V0E2 HGNC AURKB 9212 genome.wustl.edu 37 17 8109913 8109913 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 8109913 8109913 C T SNP AURKB ENST00000580998 human ensembl 70_37 -1 known missense c.301 p.E101K 1.000 NULL NULL - no_errors AURKB HGNC AURKB 9212 genome.wustl.edu 37 17 8109913 8109913 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 8109913 8109913 C T SNP AURKB ENST00000580998 human ensembl 70_37 -1 known missense c.301 p.E101K 1.000 NULL NULL - no_errors AURKB HGNC B4GALT5 9334 genome.wustl.edu 37 20 48252850 48252850 + Nonstop_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 48252850 48252850 C G SNP B4GALT5 ENST00000371711 human ensembl 70_37 -1 known nonstop c.1166 p.*389S 1.000 NULL pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT5 HGNC B4GALT5 9334 genome.wustl.edu 37 20 48252850 48252850 + Nonstop_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 48252850 48252850 C G SNP B4GALT5 ENST00000371711 human ensembl 70_37 -1 known nonstop c.1166 p.*389S 1.000 NULL pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT5 HGNC BCR 613 genome.wustl.edu 37 22 23658361 23658361 + RNA SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 23658361 23658361 T C SNP BCR ENST00000436990 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC C19orf54 284325 genome.wustl.edu 37 19 41248441 41248441 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 41248441 41248441 G A SNP C19orf54 ENST00000378313 human ensembl 70_37 -1 known missense c.953 p.S318L 0.000 NULL NULL - no_errors C19orf54 HGNC C2orf40 84417 genome.wustl.edu 37 2 106694362 106694362 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 106694362 106694362 G A SNP C2orf40 ENST00000238044 human ensembl 70_37 +1 known missense c.427 p.V143I 0.999 NULL NULL - no_errors C2orf40 HGNC C2orf40 84417 genome.wustl.edu 37 2 106694362 106694362 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 106694362 106694362 G A SNP C2orf40 ENST00000238044 human ensembl 70_37 +1 known missense c.427 p.V143I 0.999 NULL NULL - no_errors C2orf40 HGNC C6orf136 221545 genome.wustl.edu 37 6 30615247 30615247 + Missense_Mutation SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 30615247 30615247 C A SNP C6orf136 ENST00000293604 human ensembl 70_37 +1 known missense c.239 p.A80E 0.000 NULL pfam_DUF2358 - no_errors C6orf136 HGNC CAMKMT 79823 genome.wustl.edu 37 2 44776705 44776705 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 44776705 44776705 C T SNP CAMKMT ENST00000402247 human ensembl 70_37 +1 putative missense c.388 p.H130Y 0.113 NULL NULL - no_errors CAMKMT HGNC CCDC105 126402 genome.wustl.edu 37 19 15132520 15132520 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 15132520 15132520 C G SNP CCDC105 ENST00000292574 human ensembl 70_37 +1 known missense c.1134 p.I378M 0.996 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC CCDC105 126402 genome.wustl.edu 37 19 15132520 15132520 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 15132520 15132520 C G SNP CCDC105 ENST00000292574 human ensembl 70_37 +1 known missense c.1134 p.I378M 0.996 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC CCDC88A 55704 genome.wustl.edu 37 2 55561412 55561412 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 55561412 55561412 C G SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.2545 p.D849H 1.000 superfamily_Prefoldin pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC CCDC88A 55704 genome.wustl.edu 37 2 55561454 55561454 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 55561454 55561454 C T SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.2503 p.E835K 1.000 superfamily_Prefoldin pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC CD99 4267 genome.wustl.edu 37 X 2609849 2609849 + Nonsense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 2609849 2609849 C T SNP CD99 ENST00000381180 human ensembl 70_37 +1 known nonsense c.88 p.Q30* 0.000 NULL NULL - no_errors CD99 HGNC CDCA2 157313 genome.wustl.edu 37 8 25325882 25325882 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 25325882 25325882 G C SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known missense c.688 p.D230H 0.001 NULL NULL - no_errors CDCA2 HGNC CDCA2 157313 genome.wustl.edu 37 8 25325882 25325882 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 25325882 25325882 G C SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known missense c.688 p.D230H 0.001 NULL NULL - no_errors CDCA2 HGNC CDHR3 222256 genome.wustl.edu 37 7 105564466 105564466 + RNA SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 105564466 105564466 A G SNP CDHR3 ENST00000472116 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDHR3 HGNC CDK18 5129 genome.wustl.edu 37 1 205501636 205501636 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 205501636 205501636 G A SNP CDK18 ENST00000509056 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK18 HGNC CEP192 55125 genome.wustl.edu 37 18 13114219 13114219 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 13114219 13114219 G C SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.7258 p.A2420P 0.000 NULL NULL - no_errors CEP192 HGNC CEP192 55125 genome.wustl.edu 37 18 13114219 13114219 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 13114219 13114219 G C SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.7258 p.A2420P 0.000 NULL NULL - no_errors CEP192 HGNC CHAF1A 10036 genome.wustl.edu 37 19 4430573 4430573 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 4430573 4430573 G A SNP CHAF1A ENST00000301280 human ensembl 70_37 +1 known missense c.1882 p.E628K 1.000 pfam_CAF1A pfam_CAF1A,pfam_CAF-1_p150 - no_errors CHAF1A HGNC CHCHD4 131474 genome.wustl.edu 37 3 14154462 14154462 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 14154462 14154462 C T SNP CHCHD4 ENST00000295767 human ensembl 70_37 -1 known silent c.393 p.K131 0.001 NULL pfam_CHCH - no_errors CHCHD4 HGNC CHFR 55743 genome.wustl.edu 37 12 133485606 133485606 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 133485606 133485606 C G SNP CHFR ENST00000499045 human ensembl 70_37 -1 putative rna NULL NULL 0.020 - - - no_errors CHFR HGNC CLN3 1201 genome.wustl.edu 37 16 28502380 28502380 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 28502380 28502380 G C SNP CLN3 ENST00000565236 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CLN3 HGNC CLSTN3 9746 genome.wustl.edu 37 12 7301578 7301578 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 7301578 7301578 G A SNP CLSTN3 ENST00000266546 human ensembl 70_37 +1 known missense c.1858 p.E620K 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC CLSTN3 9746 genome.wustl.edu 37 12 7301578 7301578 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 7301578 7301578 G A SNP CLSTN3 ENST00000266546 human ensembl 70_37 +1 known missense c.1858 p.E620K 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC COL11A2 1302 genome.wustl.edu 37 6 33141825 33141825 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 33141825 33141825 G A SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known missense c.2492 p.S831L 0.663 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC COL4A4 1286 genome.wustl.edu 37 2 227919323 227919323 + Silent SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 227919323 227919323 C A SNP COL4A4 ENST00000396625 human ensembl 70_37 -1 known silent c.2847 p.L949 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC COL4A4 1286 genome.wustl.edu 37 2 227919323 227919323 + Silent SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 227919323 227919323 C A SNP COL4A4 ENST00000396625 human ensembl 70_37 -1 known silent c.2847 p.L949 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC COPG1 22820 genome.wustl.edu 37 3 128971139 128971139 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 128971139 128971139 G A SNP COPG1 ENST00000314797 human ensembl 70_37 +1 known missense c.106 p.E36K 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC COPG1 22820 genome.wustl.edu 37 3 128971139 128971139 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 128971139 128971139 G A SNP COPG1 ENST00000314797 human ensembl 70_37 +1 known missense c.106 p.E36K 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC CPSF3L 54973 genome.wustl.edu 37 1 1252786 1252786 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 1252786 1252786 G A SNP CPSF3L ENST00000462432 human ensembl 70_37 -1 known rna NULL NULL 0.047 - - - no_errors CPSF3L HGNC CREBBP 1387 genome.wustl.edu 37 16 3900422 3900422 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 3900422 3900422 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.674 p.P225L 0.999 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CREBBP 1387 genome.wustl.edu 37 16 3900422 3900422 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 3900422 3900422 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.674 p.P225L 0.999 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CRHR1-IT1 147081 genome.wustl.edu 37 17 43725080 43725080 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 43725080 43725080 C G SNP CRHR1-IT1 ENST00000589868 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CRHR1-IT1 HGNC CUBN 8029 genome.wustl.edu 37 10 16967746 16967746 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 16967746 16967746 C G SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.6299 p.R2100T 1.000 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 CUBN 8029 genome.wustl.edu 37 10 16967746 16967746 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 16967746 16967746 C G SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.6299 p.R2100T 1.000 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 CUL9 23113 genome.wustl.edu 37 6 43163948 43163948 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 43163948 43163948 G C SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known missense c.2530 p.E844Q 0.019 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC CYB5R3 1727 genome.wustl.edu 37 22 43027454 43027454 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 43027454 43027454 G C SNP CYB5R3 ENST00000361740 human ensembl 70_37 -1 known missense c.255 p.I85M 0.772 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R3 HGNC CYB561A3 220002 genome.wustl.edu 37 11 61129412 61129412 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 61129412 61129412 G C SNP CYBASC3 ENST00000535152 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors CYBASC3 HGNC CYB561A3 220002 genome.wustl.edu 37 11 61129606 61129606 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 61129606 61129606 G C SNP CYBASC3 ENST00000535152 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CYBASC3 HGNC CYLC1 1538 genome.wustl.edu 37 X 83127936 83127936 + Missense_Mutation SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 83127936 83127936 C A SNP CYLC1 ENST00000329312 human ensembl 70_37 +1 known missense c.220 p.H74N 0.018 NULL NULL - no_errors CYLC1 HGNC CYP2W1 54905 genome.wustl.edu 37 7 1022953 1022953 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 1022953 1022953 C T SNP CYP2W1 ENST00000308919 human ensembl 70_37 +1 known missense c.106 p.R36C 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC DAO 1610 genome.wustl.edu 37 12 109293228 109293228 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 109293228 109293228 C T SNP DAO ENST00000228476 human ensembl 70_37 +1 known missense c.889 p.R297C 0.001 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC DBH 1621 genome.wustl.edu 37 9 136523568 136523568 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 136523568 136523568 G A SNP DBH ENST00000393056 human ensembl 70_37 +1 known silent c.1853 p.*618 0.000 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC DBH 1621 genome.wustl.edu 37 9 136523568 136523568 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 136523568 136523568 G A SNP DBH ENST00000393056 human ensembl 70_37 +1 known silent c.1853 p.*618 0.000 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC DCP2 167227 genome.wustl.edu 37 5 112320221 112320221 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 112320221 112320221 C T SNP DCP2 ENST00000504961 human ensembl 70_37 +1 putative rna NULL NULL 0.016 - - - no_errors DCP2 HGNC DIRC3 729582 genome.wustl.edu 37 2 218465283 218465283 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 218465283 218465283 G C SNP DIRC3 ENST00000486365 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DIRC3 HGNC DIS3L2 129563 genome.wustl.edu 37 2 232952241 232952241 + Silent SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 232952241 232952241 T C SNP DIS3L2 ENST00000325385 human ensembl 70_37 +1 known silent c.411 p.Y137 0.552 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L2 HGNC DIS3L2 129563 genome.wustl.edu 37 2 232952241 232952241 + Silent SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 232952241 232952241 T C SNP DIS3L2 ENST00000325385 human ensembl 70_37 +1 known silent c.411 p.Y137 0.552 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L2 HGNC DKC1 1736 genome.wustl.edu 37 X 154004501 154004501 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 154004501 154004501 C T SNP DKC1 ENST00000369550 human ensembl 70_37 +1 known missense c.1378 p.P460S 0.169 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC DMBT1 1755 genome.wustl.edu 37 10 124377810 124377810 + Silent SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 124377810 124377810 C G SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known silent c.5169 p.L1723 0.002 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC DNAJB11 51726 genome.wustl.edu 37 3 186300510 186300510 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 186300510 186300510 C T SNP DNAJB11 ENST00000265028 human ensembl 70_37 +1 known missense c.688 p.P230S 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB11 HGNC DNAJC16 23341 genome.wustl.edu 37 1 15896204 15896204 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 15896204 15896204 C T SNP DNAJC16 ENST00000495523 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors DNAJC16 HGNC DNAJC4 3338 genome.wustl.edu 37 11 64000216 64000216 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 64000216 64000216 C T SNP DNAJC4 ENST00000321685 human ensembl 70_37 +1 known missense c.406 p.H136Y 0.984 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC4 HGNC DNAJC4 3338 genome.wustl.edu 37 11 64000216 64000216 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 64000216 64000216 C T SNP DNAJC4 ENST00000321685 human ensembl 70_37 +1 known missense c.406 p.H136Y 0.984 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC4 HGNC DNM1P46 196968 genome.wustl.edu 37 15 100345136 100345137 + Splice_Site INS - - A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 100345136 100345137 - A INS DNM1P46 ENST00000341853 human ensembl 70_37 -1 known splice_site_ins c.NULL NULL 0.074:0.098 - - - no_errors DNM1P46 HGNC DZIP1 22873 genome.wustl.edu 37 13 96274674 96274674 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 13 96274674 96274674 C G SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known missense c.1033 p.D345H 0.981 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC DZIP1 22873 genome.wustl.edu 37 13 96274674 96274674 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 13 96274674 96274674 C G SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known missense c.1033 p.D345H 0.981 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC EFTUD1 79631 genome.wustl.edu 37 15 82512459 82512459 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 82512459 82512459 C T SNP EFTUD1 ENST00000268206 human ensembl 70_37 -1 known silent c.1404 p.G468 0.000 superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC EFTUD1 79631 genome.wustl.edu 37 15 82512459 82512459 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 82512459 82512459 C T SNP EFTUD1 ENST00000268206 human ensembl 70_37 -1 known silent c.1404 p.G468 0.000 superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ELK4 2005 genome.wustl.edu 37 1 205589548 205589548 + Nonsense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 205589548 205589548 G C SNP ELK4 ENST00000357992 human ensembl 70_37 -1 known nonsense c.626 p.S209* 0.014 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK4 HGNC ENSG00000161103 0 genome.wustl.edu 37 22 18846228 18846228 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 18846228 18846228 G C SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000196690 0 genome.wustl.edu 37 1 17198357 17198357 + Nonsense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 17198357 17198357 C T SNP ENSG00000196690 ENST00000356370 human ensembl 70_37 -1 known nonsense c.287 p.W96* 0.004 NULL NULL - no_errors BX284668.1 Clone_based_ensembl_gene ENSG00000199633 0 genome.wustl.edu 37 15 78383588 78383588 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 78383588 78383588 G C SNP ENSG00000199633 ENST00000362763 human ensembl 70_37 -1 novel rna NULL NULL 0.543 - - - no_errors SNORA63 RFAM ENSG00000203849 0 genome.wustl.edu 37 1 142634897 142634897 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 142634897 142634897 G A SNP ENSG00000203849 ENST00000369381 human ensembl 70_37 -1 known rna NULL NULL 0.028 - - - no_errors AL583842.6 Clone_based_vega_gene ENSG00000224897 0 genome.wustl.edu 37 7 124758705 124758705 + RNA SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 124758705 124758705 G T SNP ENSG00000224897 ENST00000453342 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-3B12.1 Clone_based_vega_gene ENSG00000224905 0 genome.wustl.edu 37 21 15399745 15399745 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 21 15399745 15399745 C G SNP ENSG00000224905 ENST00000428809 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AP001347.6 Clone_based_vega_gene ENSG00000227920 0 genome.wustl.edu 37 6 37513097 37513097 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 37513097 37513097 G C SNP ENSG00000227920 ENST00000414875 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-153P14.5 Clone_based_vega_gene ENSG00000227920 0 genome.wustl.edu 37 6 37513187 37513187 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 37513187 37513187 G C SNP ENSG00000227920 ENST00000414875 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP1-153P14.5 Clone_based_vega_gene ENSG00000229206 0 genome.wustl.edu 37 10 11072470 11072470 + RNA SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 11072470 11072470 C A SNP ENSG00000229206 ENST00000428853 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-397O4.1 Clone_based_vega_gene ENSG00000230533 0 genome.wustl.edu 37 6 137995196 137995196 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 137995196 137995196 G A SNP ENSG00000230533 ENST00000440397 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-95M15.1 Clone_based_vega_gene ENSG00000230551 0 genome.wustl.edu 37 5 148874567 148874567 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 148874567 148874567 G A SNP ENSG00000230551 ENST00000412431 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTB-89H12.4 Clone_based_vega_gene ENSG00000230551 0 genome.wustl.edu 37 5 148875134 148875134 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 148875134 148875134 G A SNP ENSG00000230551 ENST00000499521 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTB-89H12.4 Clone_based_vega_gene ENSG00000233002 0 genome.wustl.edu 37 17 15644038 15644038 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 15644038 15644038 G A SNP ENSG00000233002 ENST00000580194 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AC005324.6 Clone_based_vega_gene ENSG00000233559 0 genome.wustl.edu 37 7 130546907 130546907 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 130546907 130546907 G A SNP ENSG00000233559 ENST00000447430 human ensembl 70_37 +1 known rna NULL NULL 0.052 - - - no_errors AC016831.7 Clone_based_vega_gene ENSG00000235837 0 genome.wustl.edu 37 7 16737888 16737888 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 16737888 16737888 G C SNP ENSG00000235837 ENST00000418907 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC073333.8 Clone_based_vega_gene ENSG00000236255 0 genome.wustl.edu 37 2 118594091 118594091 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 118594091 118594091 G A SNP ENSG00000236255 ENST00000439955 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC009404.2 Clone_based_vega_gene ENSG00000237937 0 genome.wustl.edu 37 11 116510247 116510247 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 116510247 116510247 G C SNP ENSG00000237937 ENST00000439483 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AP000770.1 Clone_based_vega_gene ENSG00000238818 0 genome.wustl.edu 37 1 16237454 16237454 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 16237454 16237454 C G SNP ENSG00000238818 ENST00000459258 human ensembl 70_37 +1 novel rna NULL NULL 0.007 - - - no_errors snoU13 RFAM ENSG00000240401 0 genome.wustl.edu 37 2 55556696 55556696 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 55556696 55556696 C T SNP ENSG00000240401 ENST00000599352 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors AC012358.8 Clone_based_vega_gene ENSG00000241316 0 genome.wustl.edu 37 3 67800324 67800324 + RNA SNP A A C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 67800324 67800324 A C SNP ENSG00000241316 ENST00000496640 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-81N13.1 Clone_based_vega_gene ENSG00000241764 0 genome.wustl.edu 37 7 107384958 107384958 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 107384958 107384958 G A SNP ENSG00000241764 ENST00000423845 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC002467.7 Clone_based_vega_gene ENSG00000242688 0 genome.wustl.edu 37 1 20297702 20297702 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 20297702 20297702 G A SNP ENSG00000242688 ENST00000488028 human ensembl 70_37 +1 novel rna NULL NULL 0.073 - - - no_errors Metazoa_SRP RFAM ENSG00000246084 0 genome.wustl.edu 37 14 97932873 97932873 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 97932873 97932873 C T SNP ENSG00000246084 ENST00000554260 human ensembl 70_37 +1 known rna NULL NULL 0.138 - - - no_errors CTD-2506J14.1 Clone_based_vega_gene ENSG00000246331 0 genome.wustl.edu 37 12 30932397 30932397 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 30932397 30932397 C G SNP ENSG00000246331 ENST00000500076 human ensembl 70_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-77I22.2 Clone_based_vega_gene ENSG00000248187 0 genome.wustl.edu 37 4 129490319 129490319 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 129490319 129490319 C T SNP ENSG00000248187 ENST00000514265 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-184M15.1 Clone_based_vega_gene ENSG00000250548 0 genome.wustl.edu 37 14 62023243 62023243 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 62023243 62023243 G A SNP ENSG00000250548 ENST00000508827 human ensembl 70_37 -1 known rna NULL NULL 0.141 - - - no_errors RP11-47I22.2 Clone_based_vega_gene ENSG00000256897 0 genome.wustl.edu 37 11 47242214 47242214 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 47242214 47242214 G C SNP ENSG00000256897 ENST00000540410 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-17G12.2 Clone_based_vega_gene ENSG00000256897 0 genome.wustl.edu 37 11 47242251 47242251 + RNA SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 47242251 47242251 G T SNP ENSG00000256897 ENST00000540410 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-17G12.2 Clone_based_vega_gene ENSG00000257191 0 genome.wustl.edu 37 12 79354194 79354194 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 79354194 79354194 G A SNP ENSG00000257191 ENST00000548384 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-390N6.1 Clone_based_vega_gene ENSG00000258276 0 genome.wustl.edu 37 14 20009244 20009244 + RNA SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 20009244 20009244 A G SNP ENSG00000258276 ENST00000547584 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000258276 0 genome.wustl.edu 37 14 20010310 20010310 + RNA SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 20010310 20010310 A G SNP ENSG00000258276 ENST00000547584 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000259899 0 genome.wustl.edu 37 16 12654821 12654821 + RNA SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 12654821 12654821 C A SNP ENSG00000259899 ENST00000564505 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors CTD-3037G24.3 Clone_based_vega_gene ENSG00000260261 0 genome.wustl.edu 37 3 195677012 195677012 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 195677012 195677012 C G SNP ENSG00000260261 ENST00000570130 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-480A16.1 Clone_based_vega_gene ENSG00000260322 0 genome.wustl.edu 37 1 80580803 80580803 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 80580803 80580803 C G SNP ENSG00000260322 ENST00000567886 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-339A11.2 Clone_based_vega_gene ENSG00000260366 0 genome.wustl.edu 37 19 49429444 49429445 + RNA INS - - A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 49429444 49429445 - A INS ENSG00000260366 ENST00000569130 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.005 - - - no_errors CTD-2639E6.4 Clone_based_vega_gene ENSG00000260542 0 genome.wustl.edu 37 20 61089644 61089644 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 61089644 61089644 G A SNP ENSG00000260542 ENST00000569373 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP13-379O24.2 Clone_based_vega_gene ENSG00000260617 0 genome.wustl.edu 37 16 88808325 88808325 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 88808325 88808325 G C SNP ENSG00000260617 ENST00000566114 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP5-1142A6.7 Clone_based_vega_gene ENSG00000262332 0 genome.wustl.edu 37 16 16317897 16317897 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 16317897 16317897 C T SNP ENSG00000262332 ENST00000574883 human ensembl 70_37 +1 known rna NULL NULL 0.227 - - - no_errors RP11-517A5.7 Clone_based_vega_gene ENSG00000262839 0 genome.wustl.edu 37 16 67467632 67467632 + RNA SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 67467632 67467632 T C SNP ENSG00000262839 ENST00000571772 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-297D21.3 Clone_based_vega_gene ENSG00000263120 0 genome.wustl.edu 37 17 55061697 55061697 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 55061697 55061697 C G SNP ENSG00000263120 ENST00000572877 human ensembl 70_37 +1 known rna NULL NULL 0.092 - - - no_errors RP5-1107A17.4 Clone_based_vega_gene ENSG00000264443 0 genome.wustl.edu 37 1 24865892 24865892 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 24865892 24865892 C T SNP ENSG00000264443 ENST00000577528 human ensembl 70_37 -1 known rna NULL NULL 0.030 - - - no_errors RP4-594I10.3 Clone_based_vega_gene ENSG00000265114 0 genome.wustl.edu 37 17 22192227 22192227 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 22192227 22192227 C T SNP ENSG00000265114 ENST00000577879 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-285M22.1 Clone_based_vega_gene ENSG00000267316 0 genome.wustl.edu 37 18 59238604 59238604 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 59238604 59238604 C T SNP ENSG00000267316 ENST00000585706 human ensembl 70_37 -1 known rna NULL NULL 0.202 - - - no_errors RP11-879F14.3 Clone_based_vega_gene ENSG00000268205 0 genome.wustl.edu 37 19 57818159 57818159 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 57818159 57818159 C G SNP ENSG00000268205 ENST00000593427 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors CTC-444N24.11 Clone_based_vega_gene ENSG00000268205 0 genome.wustl.edu 37 19 57818699 57818699 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 57818699 57818699 C G SNP ENSG00000268205 ENST00000593427 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors CTC-444N24.11 Clone_based_vega_gene EPS15 2060 genome.wustl.edu 37 1 51912653 51912653 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 51912653 51912653 G C SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.776 p.S259C 0.963 smart_EPS15_homology,pfscan_EPS15_homology smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC EPS15 2060 genome.wustl.edu 37 1 51912653 51912653 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 51912653 51912653 G C SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.776 p.S259C 0.963 smart_EPS15_homology,pfscan_EPS15_homology smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ESYT1 23344 genome.wustl.edu 37 12 56524184 56524184 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 56524184 56524184 G C SNP ESYT1 ENST00000550986 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors ESYT1 HGNC EVC 2121 genome.wustl.edu 37 4 5800331 5800331 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 5800331 5800331 G C SNP EVC ENST00000264956 human ensembl 70_37 +1 known missense c.2116 p.E706Q 0.998 NULL NULL - no_errors EVC HGNC FAAH2 158584 genome.wustl.edu 37 X 57515412 57515413 + RNA INS - - T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 57515412 57515413 - T INS FAAH2 ENST00000491179 human ensembl 70_37 +1 known rna NULL NULL 0.018:0.011 - - - no_errors FAAH2 HGNC FAAH2 158584 genome.wustl.edu 37 X 57515415 57515416 + RNA INS - - T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 57515415 57515416 - T INS FAAH2 ENST00000491179 human ensembl 70_37 +1 known rna NULL NULL 0.004:0.003 - - - no_errors FAAH2 HGNC FAM92B 339145 genome.wustl.edu 37 16 85143960 85143960 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 85143960 85143960 G A SNP FAM92B ENST00000539556 human ensembl 70_37 -1 known missense c.127 p.R43W 0.996 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC FAM92B 339145 genome.wustl.edu 37 16 85143960 85143960 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 85143960 85143960 G A SNP FAM92B ENST00000539556 human ensembl 70_37 -1 known missense c.127 p.R43W 0.996 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC FATE1 89885 genome.wustl.edu 37 X 150884628 150884628 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 150884628 150884628 G A SNP FATE1 ENST00000370350 human ensembl 70_37 +1 known missense c.37 p.E13K 0.001 NULL pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC FBXO34 55030 genome.wustl.edu 37 14 55738158 55738158 + RNA SNP T T A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 55738158 55738158 T A SNP FBXO34 ENST00000554940 human ensembl 70_37 +1 putative rna NULL NULL 0.005 - - - no_errors FBXO34 HGNC FBXW7 55294 genome.wustl.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 153247366 153247366 C G SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1436 p.R479P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FBXW7 55294 genome.wustl.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 153247366 153247366 C G SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1436 p.R479P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FCER1G 2207 genome.wustl.edu 37 1 161189038 161189038 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 161189038 161189038 C G SNP FCER1G ENST00000490414 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FCER1G HGNC GALNT5 11227 genome.wustl.edu 37 2 158167780 158167780 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 158167780 158167780 C G SNP GALNT5 ENST00000259056 human ensembl 70_37 +1 known missense c.2743 p.Q915E 0.988 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC GAS2L1 10634 genome.wustl.edu 37 22 29704119 29704119 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 29704119 29704119 C T SNP GAS2L1 ENST00000403764 human ensembl 70_37 +1 known silent c.24 p.I8 0.990 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC GAS2L1 10634 genome.wustl.edu 37 22 29704119 29704119 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 29704119 29704119 C T SNP GAS2L1 ENST00000403764 human ensembl 70_37 +1 known silent c.24 p.I8 0.990 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC GCSAML-AS1 148824 genome.wustl.edu 37 1 247688952 247688952 + RNA SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 247688952 247688952 C A SNP GCSAML-AS1 ENST00000420469 human ensembl 70_37 -1 known rna NULL NULL 0.269 - - - no_errors GCSAML-AS1 HGNC GGT1 2678 genome.wustl.edu 37 22 25007114 25007114 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 25007114 25007114 C T SNP GGT1 ENST00000248923 human ensembl 70_37 +1 known silent c.66 p.L22 0.171 NULL pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC GLE1 2733 genome.wustl.edu 37 9 131271285 131271285 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 131271285 131271285 C G SNP GLE1 ENST00000309971 human ensembl 70_37 +1 known nonsense c.230 p.S77* 0.021 NULL pfam_GLE1 - no_errors GLE1 HGNC GLE1 2733 genome.wustl.edu 37 9 131271285 131271285 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 131271285 131271285 C G SNP GLE1 ENST00000309971 human ensembl 70_37 +1 known nonsense c.230 p.S77* 0.021 NULL pfam_GLE1 - no_errors GLE1 HGNC GPN2 54707 genome.wustl.edu 37 1 27216479 27216479 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 27216479 27216479 C G SNP GPN2 ENST00000374135 human ensembl 70_37 -1 known missense c.109 p.G37R 1.000 pfam_Uncharacterised_ATP-bd pfam_Uncharacterised_ATP-bd - no_errors GPN2 HGNC HLA-B 3106 genome.wustl.edu 37 6 31324496 31324496 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 31324496 31324496 G T SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known missense c.312 p.N104K 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC HNF4A 3172 genome.wustl.edu 37 20 43034754 43034754 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 43034754 43034754 G A SNP HNF4A ENST00000316099 human ensembl 70_37 +1 known missense c.172 p.A58T 0.922 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_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_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC HNF4A 3172 genome.wustl.edu 37 20 43034754 43034754 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 43034754 43034754 G A SNP HNF4A ENST00000316099 human ensembl 70_37 +1 known missense c.172 p.A58T 0.922 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_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_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC HNRNPCL1 343069 genome.wustl.edu 37 1 12907428 12907428 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 12907428 12907428 C T SNP HNRNPCL1 ENST00000317869 human ensembl 70_37 -1 known missense c.715 p.E239K 0.998 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC HNRNPCL1 343069 genome.wustl.edu 37 1 12907428 12907428 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 12907428 12907428 C T SNP HNRNPCL1 ENST00000317869 human ensembl 70_37 -1 known missense c.715 p.E239K 0.998 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC HTR7P1 93164 genome.wustl.edu 37 12 13157419 13157419 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 13157419 13157419 C T SNP HTR7P1 ENST00000535469 human ensembl 70_37 +1 known rna NULL NULL 0.336 - - - no_errors HTR7P1 HGNC ICOSLG 23308 genome.wustl.edu 37 21 45649487 45649487 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 21 45649487 45649487 C T SNP ICOSLG ENST00000400379 human ensembl 70_37 -1 putative missense c.1348 p.G450R 0.000 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors ICOSLG HGNC INHBB 3625 genome.wustl.edu 37 2 121107168 121107168 + Silent SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 121107168 121107168 C G SNP INHBB ENST00000295228 human ensembl 70_37 +1 known silent c.942 p.L314 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC INHBB 3625 genome.wustl.edu 37 2 121107168 121107168 + Silent SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 121107168 121107168 C G SNP INHBB ENST00000295228 human ensembl 70_37 +1 known silent c.942 p.L314 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC IRX2 153572 genome.wustl.edu 37 5 2749029 2749029 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 2749029 2749029 C T SNP IRX2 ENST00000302057 human ensembl 70_37 -1 known missense c.793 p.D265N 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX2 HGNC ITGAM 3684 genome.wustl.edu 37 16 31282368 31282368 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 31282368 31282368 C G SNP ITGAM ENST00000544665 human ensembl 70_37 +1 known nonsense c.521 p.S174* 0.003 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ITPKB 3707 genome.wustl.edu 37 1 226924884 226924885 + In_Frame_Ins INS - - CCA TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 226924884 226924885 - CCA INS ITPKB ENST00000272117 human ensembl 70_37 -1 known in_frame_ins c.276_275 p.93in_frame_insG 0.091:0.097 NULL pfam_IPK - no_errors ITPKB HGNC KALRN 8997 genome.wustl.edu 37 3 123881188 123881188 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 123881188 123881188 G C SNP KALRN ENST00000477496 human ensembl 70_37 +1 known rna NULL NULL 0.158 - - - no_errors KALRN HGNC KCNQ1OT1 10984 genome.wustl.edu 37 11 2657771 2657771 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 2657771 2657771 G C SNP KCNQ1OT1 ENST00000597346 human ensembl 70_37 -1 known rna NULL NULL 0.063 - - - no_errors KCNQ1OT1 HGNC KIAA1211 57482 genome.wustl.edu 37 4 57180239 57180239 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 57180239 57180239 C T SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known missense c.571 p.R191W 0.490 NULL NULL - no_errors KIAA1211 HGNC KIAA1211 57482 genome.wustl.edu 37 4 57180239 57180239 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 57180239 57180239 C T SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known missense c.571 p.R191W 0.490 NULL NULL - no_errors KIAA1211 HGNC KIAA1211 57482 genome.wustl.edu 37 4 57182677 57182677 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 57182677 57182677 G A SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known silent c.3009 p.P1003 0.000 NULL NULL - no_errors KIAA1211 HGNC KIAA1211 57482 genome.wustl.edu 37 4 57182677 57182677 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 57182677 57182677 G A SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known silent c.3009 p.P1003 0.000 NULL NULL - no_errors KIAA1211 HGNC KIAA1586 57691 genome.wustl.edu 37 6 56918108 56918108 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 56918108 56918108 G A SNP KIAA1586 ENST00000370733 human ensembl 70_37 +1 known missense c.811 p.E271K 0.974 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC KIAA1586 57691 genome.wustl.edu 37 6 56918108 56918108 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 56918108 56918108 G A SNP KIAA1586 ENST00000370733 human ensembl 70_37 +1 known missense c.811 p.E271K 0.974 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC KLHL14 57565 genome.wustl.edu 37 18 30350010 30350010 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 30350010 30350010 G A SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known missense c.545 p.S182L 1.000 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 KLHL14 HGNC KLHL14 57565 genome.wustl.edu 37 18 30350010 30350010 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 30350010 30350010 G A SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known missense c.545 p.S182L 1.000 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 KLHL14 HGNC KRT17P1 147228 genome.wustl.edu 37 17 16746889 16746889 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 16746889 16746889 C G SNP KRT17P1 ENST00000577449 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors KRT17P1 HGNC KRTAP4-12 83755 genome.wustl.edu 37 17 39280341 39280341 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 39280341 39280341 C G SNP KRTAP4-12 ENST00000394014 human ensembl 70_37 -1 known missense c.34 p.D12H 0.970 NULL pfam_Keratin-assoc - no_errors KRTAP4-12 HGNC KRTAP4-12 83755 genome.wustl.edu 37 17 39280341 39280341 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 39280341 39280341 C G SNP KRTAP4-12 ENST00000394014 human ensembl 70_37 -1 known missense c.34 p.D12H 0.970 NULL pfam_Keratin-assoc - no_errors KRTAP4-12 HGNC LILRB3 11025 genome.wustl.edu 37 19 54725798 54725798 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 54725798 54725798 G T SNP LILRB3 ENST00000407860 human ensembl 70_37 -1 known missense c.560 p.T187N 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB3 HGNC LINC00649 100506334 genome.wustl.edu 37 21 35348506 35348506 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 21 35348506 35348506 C G SNP LINC00649 ENST00000427447 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00649 HGNC LINC00661 126536 genome.wustl.edu 37 19 16136156 16136156 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 16136156 16136156 G A SNP LINC00661 ENST00000379899 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors LINC00661 HGNC LOC100128002 100128002 genome.wustl.edu 37 12 132147531 132147531 + RNA SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 132147531 132147531 A G SNP LOC100128002 ENST00000508145 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-495K9.6 Clone_based_vega_gene LOC100272228 100272228 genome.wustl.edu 37 X 149391768 149391768 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 149391768 149391768 C T SNP LOC100272228 ENST00000449111 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP13-507I23.1 Clone_based_vega_gene LOC100507033 100507033 genome.wustl.edu 37 3 194217567 194217567 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 194217567 194217567 G C SNP LOC100507033 ENST00000455557 human ensembl 70_37 -1 putative rna NULL NULL 0.008 - - - no_errors AC108676.1 Clone_based_vega_gene LOC150577 150577 genome.wustl.edu 37 2 100863599 100863599 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 100863599 100863599 G A SNP LOC150577 ENST00000441036 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC104782.3 Clone_based_vega_gene LOC255167 255167 genome.wustl.edu 37 5 6587641 6587641 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 6587641 6587641 G A SNP LOC255167 ENST00000505626 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2195M18.1 Clone_based_vega_gene LOC339529 339529 genome.wustl.edu 37 1 244210228 244210228 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 244210228 244210228 G A SNP LOC339529 ENST00000440494 human ensembl 70_37 +1 known rna NULL NULL 0.864 - - - no_errors RP11-278H7.1 Clone_based_vega_gene LOC339788 339788 genome.wustl.edu 37 2 8064132 8064132 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 8064132 8064132 C T SNP LOC339788 ENST00000426969 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC007464.1 Clone_based_vega_gene LRRC15 131578 genome.wustl.edu 37 3 194080433 194080433 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 194080433 194080433 G A SNP LRRC15 ENST00000439944 human ensembl 70_37 -1 known missense c.1358 p.T453M 0.418 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC LRRC15 131578 genome.wustl.edu 37 3 194080433 194080433 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 194080433 194080433 G A SNP LRRC15 ENST00000439944 human ensembl 70_37 -1 known missense c.1358 p.T453M 0.418 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC LRRC37A 9884 genome.wustl.edu 37 17 44409004 44409004 + Missense_Mutation SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 44409004 44409004 T C SNP LRRC37A ENST00000320254 human ensembl 70_37 +1 known missense c.4361 p.L1454P 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC MAGI1 9223 genome.wustl.edu 37 3 65342183 65342183 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 65342183 65342183 C G SNP MAGI1 ENST00000402939 human ensembl 70_37 -1 known missense c.4259 p.R1420T 0.002 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC MAP3K4 4216 genome.wustl.edu 37 6 161512528 161512528 + Missense_Mutation SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 161512528 161512528 T C SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.3091 p.Y1031H 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 MAP3K4 HGNC MAP3K4 4216 genome.wustl.edu 37 6 161512528 161512528 + Missense_Mutation SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 161512528 161512528 T C SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.3091 p.Y1031H 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 MAP3K4 HGNC MARK1 4139 genome.wustl.edu 37 1 220809274 220809274 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 220809274 220809274 G A SNP MARK1 ENST00000366917 human ensembl 70_37 +1 known missense c.1376 p.R459Q 0.985 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC MC2R 4158 genome.wustl.edu 37 18 13884966 13884966 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 13884966 13884966 C T SNP MC2R ENST00000327606 human ensembl 70_37 -1 known silent c.552 p.L184 0.257 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC MCOLN1 57192 genome.wustl.edu 37 19 7593569 7593569 + Nonsense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 7593569 7593569 C T SNP MCOLN1 ENST00000264079 human ensembl 70_37 +1 known nonsense c.964 p.R322* 0.882 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC MED1 5469 genome.wustl.edu 37 17 37566919 37566919 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 37566919 37566919 G A SNP MED1 ENST00000300651 human ensembl 70_37 -1 known nonsense c.1555 p.Q519* 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MED1 5469 genome.wustl.edu 37 17 37566919 37566919 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 37566919 37566919 G A SNP MED1 ENST00000300651 human ensembl 70_37 -1 known nonsense c.1555 p.Q519* 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MERTK 10461 genome.wustl.edu 37 2 112766024 112766024 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 112766024 112766024 C G SNP MERTK ENST00000295408 human ensembl 70_37 +1 known missense c.1932 p.F644L 0.968 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_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC MIR600HG 81571 genome.wustl.edu 37 9 125873767 125873767 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 125873767 125873767 C G SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.071 - - - no_errors MIR600HG HGNC KMT2C 58508 genome.wustl.edu 37 7 151856085 151856085 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 151856085 151856085 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.11533 p.E3845K 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2C 58508 genome.wustl.edu 37 7 151856085 151856085 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 151856085 151856085 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.11533 p.E3845K 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MMP27 64066 genome.wustl.edu 37 11 102563730 102563730 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 102563730 102563730 C T SNP MMP27 ENST00000260229 human ensembl 70_37 -1 known silent c.1236 p.Q412 0.003 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP27 HGNC MON2 23041 genome.wustl.edu 37 12 62974171 62974171 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 62974171 62974171 C T SNP MON2 ENST00000393630 human ensembl 70_37 +1 known missense c.4673 p.S1558L 1.000 NULL pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC MT-CO1 4512 genome.wustl.edu 37 MT 6999 6999 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 MT 6999 6999 G A SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.1096 p.V366M NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC MYBPC1 4604 genome.wustl.edu 37 12 102079532 102079532 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 102079532 102079532 C T SNP MYBPC1 ENST00000550501 human ensembl 70_37 +1 known rna NULL NULL 0.560 - - - no_errors MYBPC1 HGNC MYH6 4624 genome.wustl.edu 37 14 23871733 23871733 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 23871733 23871733 C T SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known missense c.1081 p.G361R 0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC MYO7B 4648 genome.wustl.edu 37 2 128380923 128380923 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 128380923 128380923 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.3714 p.F1238 0.996 smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC MYRIP 25924 genome.wustl.edu 37 3 40192620 40192620 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 40192620 40192620 G A SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known silent c.414 p.L138 1.000 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC MYRIP 25924 genome.wustl.edu 37 3 40192620 40192620 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 40192620 40192620 G A SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known silent c.414 p.L138 1.000 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC N4BP3 23138 genome.wustl.edu 37 5 177547344 177547344 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 177547344 177547344 C G SNP N4BP3 ENST00000274605 human ensembl 70_37 +1 known missense c.496 p.Q166E 1.000 NULL pfam_Fez1 - no_errors N4BP3 HGNC N4BP3 23138 genome.wustl.edu 37 5 177547344 177547344 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 177547344 177547344 C G SNP N4BP3 ENST00000274605 human ensembl 70_37 +1 known missense c.496 p.Q166E 1.000 NULL pfam_Fez1 - no_errors N4BP3 HGNC NCAM2 4685 genome.wustl.edu 37 21 22710717 22710717 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 21 22710717 22710717 C T SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known missense c.907 p.H303Y 1.000 pfscan_Ig-like,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC NHEJ1 79840 genome.wustl.edu 37 2 220025455 220025455 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 220025455 220025455 G C SNP NHEJ1 ENST00000481764 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors NHEJ1 HGNC NKAPP1 158801 genome.wustl.edu 37 X 119370494 119370494 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 119370494 119370494 G C SNP NKAPP1 ENST00000452254 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NKAPP1 HGNC NLGN2 57555 genome.wustl.edu 37 17 7318956 7318956 + Silent SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 7318956 7318956 C G SNP NLGN2 ENST00000302926 human ensembl 70_37 +1 known silent c.1164 p.L388 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC NLGN2 57555 genome.wustl.edu 37 17 7318956 7318956 + Silent SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 7318956 7318956 C G SNP NLGN2 ENST00000302926 human ensembl 70_37 +1 known silent c.1164 p.L388 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC NOL8 55035 genome.wustl.edu 37 9 95082610 95082610 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 95082610 95082610 C G SNP NOL8 ENST00000538215 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NOL8 HGNC NPIPA1 9284 genome.wustl.edu 37 16 15027080 15027080 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 15027080 15027080 C G SNP NPIP ENST00000472413 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NPIP HGNC NTNG1 22854 genome.wustl.edu 37 1 107973459 107973459 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 107973459 107973459 G C SNP NTNG1 ENST00000370068 human ensembl 70_37 +1 known missense c.1175 p.R392T 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC OIP5-AS1 729082 genome.wustl.edu 37 15 41578239 41578239 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 41578239 41578239 G C SNP OIP5-AS1 ENST00000500949 human ensembl 70_37 +1 known rna NULL NULL 0.562 - - - no_errors OIP5-AS1 HGNC OPN1SW 611 genome.wustl.edu 37 7 128414648 128414648 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 128414648 128414648 G A SNP OPN1SW ENST00000249389 human ensembl 70_37 -1 known silent c.591 p.S197 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC OR5L2 26338 genome.wustl.edu 37 11 55595315 55595315 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 55595315 55595315 G C SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known missense c.621 p.E207D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC OR5L2 26338 genome.wustl.edu 37 11 55595315 55595315 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 55595315 55595315 G C SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known missense c.621 p.E207D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC OR8D1 283159 genome.wustl.edu 37 11 124180213 124180213 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 124180213 124180213 G C SNP OR8D1 ENST00000357821 human ensembl 70_37 -1 known missense c.450 p.F150L 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 OR8D1 HGNC OR8D1 283159 genome.wustl.edu 37 11 124180213 124180213 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 124180213 124180213 G C SNP OR8D1 ENST00000357821 human ensembl 70_37 -1 known missense c.450 p.F150L 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 OR8D1 HGNC OTOG 340990 genome.wustl.edu 37 11 17653749 17653749 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 17653749 17653749 G C SNP OTOG ENST00000399391 human ensembl 70_37 +1 known missense c.7084 p.E2362Q 0.960 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC PCDHA8 56140 genome.wustl.edu 37 5 140221089 140221089 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 140221089 140221089 G A SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known silent c.183 p.P61 0.088 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC PCP2 126006 genome.wustl.edu 37 19 7696640 7696640 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 7696640 7696640 G C SNP PCP2 ENST00000311069 human ensembl 70_37 -1 known missense c.346 p.Q116E 0.959 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors PCP2 HGNC PCP2 126006 genome.wustl.edu 37 19 7696640 7696640 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 7696640 7696640 G C SNP PCP2 ENST00000311069 human ensembl 70_37 -1 known missense c.346 p.Q116E 0.959 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors PCP2 HGNC PDE5A 8654 genome.wustl.edu 37 4 120446713 120446713 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 120446713 120446713 C G SNP PDE5A ENST00000354960 human ensembl 70_37 -1 known missense c.1770 p.M590I 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC PDK1 5163 genome.wustl.edu 37 2 173429744 173429744 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 173429744 173429744 C G SNP PDK1 ENST00000431718 human ensembl 70_37 +1 known nonsense c.449 p.S150* 1.000 NULL pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N - no_errors PDK1 HGNC PDZD7 79955 genome.wustl.edu 37 10 102770465 102770465 + RNA SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 102770465 102770465 G T SNP PDZD7 ENST00000474125 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDZD7 HGNC PGAM1 5223 genome.wustl.edu 37 10 99190814 99190814 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 99190814 99190814 C T SNP PGAM1 ENST00000334828 human ensembl 70_37 +1 known missense c.517 p.P173S 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM1 HGNC PGBD1 84547 genome.wustl.edu 37 6 28269414 28269414 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 28269414 28269414 G C SNP PGBD1 ENST00000259883 human ensembl 70_37 +1 known missense c.1783 p.D595H 0.177 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC PGBD1 84547 genome.wustl.edu 37 6 28269414 28269414 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 28269414 28269414 G C SNP PGBD1 ENST00000259883 human ensembl 70_37 +1 known missense c.1783 p.D595H 0.177 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 178936091 178936091 G C SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545Q 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIK3CA 5290 genome.wustl.edu 37 3 178937410 178937410 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 178937410 178937410 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1798 p.E600K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIKFYVE 200576 genome.wustl.edu 37 2 209192951 209192951 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 209192951 209192951 C T SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known silent c.3666 p.F1222 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 PIKFYVE 200576 genome.wustl.edu 37 2 209192951 209192951 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 209192951 209192951 C T SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known silent c.3666 p.F1222 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 PKP2 5318 genome.wustl.edu 37 12 32975436 32975436 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 32975436 32975436 C G SNP PKP2 ENST00000070846 human ensembl 70_37 -1 known missense c.1936 p.G646R 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC PKP2 5318 genome.wustl.edu 37 12 32975436 32975436 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 32975436 32975436 C G SNP PKP2 ENST00000070846 human ensembl 70_37 -1 known missense c.1936 p.G646R 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC PLCG2 5336 genome.wustl.edu 37 16 81892744 81892744 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 81892744 81892744 C G SNP PLCG2 ENST00000359376 human ensembl 70_37 +1 known missense c.455 p.S152C 1.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC PLCG2 5336 genome.wustl.edu 37 16 81892744 81892744 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 81892744 81892744 C G SNP PLCG2 ENST00000359376 human ensembl 70_37 +1 known missense c.455 p.S152C 1.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC PLEKHD1 400224 genome.wustl.edu 37 14 69968456 69968456 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 69968456 69968456 G T SNP PLEKHD1 ENST00000322564 human ensembl 70_37 +1 known missense c.416 p.W139L 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC PLEKHH2 130271 genome.wustl.edu 37 2 43919764 43919764 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 43919764 43919764 G A SNP PLEKHH2 ENST00000282406 human ensembl 70_37 +1 known missense c.298 p.D100N 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC PLXNA1 5361 genome.wustl.edu 37 3 126707774 126707774 + Missense_Mutation SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 126707774 126707774 A G SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known missense c.338 p.N113S 0.999 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC PLXNA1 5361 genome.wustl.edu 37 3 126707774 126707774 + Missense_Mutation SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 126707774 126707774 A G SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known missense c.338 p.N113S 0.999 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC POU2F1 5451 genome.wustl.edu 37 1 167190159 167190159 + Nonsense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 167190159 167190159 C T SNP POU2F1 ENST00000367866 human ensembl 70_37 +1 known nonsense c.25 p.Q9* 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC POU5F1B 5462 genome.wustl.edu 37 8 128429025 128429025 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 128429025 128429025 C T SNP POU5F1B ENST00000391675 human ensembl 70_37 +1 known missense c.914 p.S305L 0.966 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC POU5F1B 5462 genome.wustl.edu 37 8 128429025 128429025 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 128429025 128429025 C T SNP POU5F1B ENST00000391675 human ensembl 70_37 +1 known missense c.914 p.S305L 0.966 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC PPAPDC1B 84513 genome.wustl.edu 37 8 38124784 38124784 + Splice_Site SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 38124784 38124784 C T SNP PPAPDC1B ENST00000424479 human ensembl 70_37 -1 known splice_site c.463+1 e5+1 1.000 - - - no_errors PPAPDC1B HGNC PPAPDC1B 84513 genome.wustl.edu 37 8 38124784 38124784 + Splice_Site SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 38124784 38124784 C T SNP PPAPDC1B ENST00000424479 human ensembl 70_37 -1 known splice_site c.463+1 e5+1 1.000 - - - no_errors PPAPDC1B HGNC PRCD 768206 genome.wustl.edu 37 17 74542943 74542943 + RNA SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 74542943 74542943 G T SNP PRCD ENST00000592432 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors PRCD HGNC PRPF40A 55660 genome.wustl.edu 37 2 153515691 153515691 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 153515691 153515691 C T SNP PRPF40A ENST00000410080 human ensembl 70_37 -1 known missense c.2422 p.D808N 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,prints_Antifreeze_1,pfscan_WW_Rsp5_WWP - no_errors PRPF40A HGNC PRR14L 253143 genome.wustl.edu 37 22 32109761 32109761 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 32109761 32109761 G C SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.4064 p.S1355C 0.011 NULL NULL - no_errors PRR14L HGNC PRRG2 5639 genome.wustl.edu 37 19 50093638 50093638 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 50093638 50093638 C G SNP PRRG2 ENST00000246794 human ensembl 70_37 +1 known missense c.601 p.P201A 0.010 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC PRRG2 5639 genome.wustl.edu 37 19 50093638 50093638 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 50093638 50093638 C G SNP PRRG2 ENST00000246794 human ensembl 70_37 +1 known missense c.601 p.P201A 0.010 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC RAP1GAP 5909 genome.wustl.edu 37 1 21934836 21934836 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 21934836 21934836 G A SNP RAP1GAP ENST00000290101 human ensembl 70_37 -1 known missense c.1358 p.T453M 0.999 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Rap_GAP,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP - no_errors RAP1GAP HGNC RAP1GAP 5909 genome.wustl.edu 37 1 21934836 21934836 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 21934836 21934836 G A SNP RAP1GAP ENST00000290101 human ensembl 70_37 -1 known missense c.1358 p.T453M 0.999 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Rap_GAP,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP - no_errors RAP1GAP HGNC RASGRF2 5924 genome.wustl.edu 37 5 80383974 80383974 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 80383974 80383974 G C SNP RASGRF2 ENST00000502677 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RASGRF2 HGNC REM1 28954 genome.wustl.edu 37 20 30064251 30064251 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 30064251 30064251 G A SNP REM1 ENST00000201979 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC REM1 28954 genome.wustl.edu 37 20 30064251 30064251 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 30064251 30064251 G A SNP REM1 ENST00000201979 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC RHOXF1 158800 genome.wustl.edu 37 X 119249758 119249758 + Silent SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 119249758 119249758 G T SNP RHOXF1 ENST00000217999 human ensembl 70_37 -1 known silent c.15 p.L5 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors RHOXF1 HGNC RHOXF1 158800 genome.wustl.edu 37 X 119249759 119249759 + Missense_Mutation SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 119249759 119249759 A G SNP RHOXF1 ENST00000217999 human ensembl 70_37 -1 known missense c.14 p.L5P 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors RHOXF1 HGNC RPL13A 23521 genome.wustl.edu 37 19 49993803 49993803 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 49993803 49993803 C T SNP RPL13A ENST00000391857 human ensembl 70_37 +1 known missense c.226 p.P76S 1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC RPL34-AS1 285456 genome.wustl.edu 37 4 109519750 109519750 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 109519750 109519750 C G SNP RPL34-AS1 ENST00000510212 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RPL34-AS1 HGNC RSPH10B2 728194 genome.wustl.edu 37 7 6825630 6825630 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 6825630 6825630 C T SNP RSPH10B2 ENST00000297186 human ensembl 70_37 +1 known silent c.1809 p.V603 0.950 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC RUNX1T1 862 genome.wustl.edu 37 8 93004062 93004062 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 93004062 93004062 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known nonsense c.829 p.R277* 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC RUNX1T1 862 genome.wustl.edu 37 8 93004062 93004062 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 93004062 93004062 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known nonsense c.829 p.R277* 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC SCN8A 6334 genome.wustl.edu 37 12 52180553 52180553 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 52180553 52180553 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known silent c.4170 p.K1390 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SEC24B-AS1 100533182 genome.wustl.edu 37 4 110268728 110268728 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 110268728 110268728 G C SNP SEC24B-AS1 ENST00000499713 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors SEC24B-AS1 HGNC SEC24C 9632 genome.wustl.edu 37 10 75511672 75511672 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 75511672 75511672 C G SNP SEC24C ENST00000477008 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SEC24C HGNC SGSM1 129049 genome.wustl.edu 37 22 25294203 25294203 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 25294203 25294203 G A SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.2452 p.E818K 0.823 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC SGSM1 129049 genome.wustl.edu 37 22 25294203 25294203 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 25294203 25294203 G A SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.2452 p.E818K 0.823 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC SHCBP1L 81626 genome.wustl.edu 37 1 182908672 182908672 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 182908672 182908672 G C SNP SHCBP1L ENST00000367547 human ensembl 70_37 -1 known missense c.787 p.L263V 1.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC SHCBP1L 81626 genome.wustl.edu 37 1 182908672 182908672 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 182908672 182908672 G C SNP SHCBP1L ENST00000367547 human ensembl 70_37 -1 known missense c.787 p.L263V 1.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC SHROOM4 57477 genome.wustl.edu 37 X 50341494 50341494 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 50341494 50341494 C T SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known silent c.3984 p.L1328 1.000 pfam_ASD2 pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC SKAP1 8631 genome.wustl.edu 37 17 46239875 46239875 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 46239875 46239875 C T SNP SKAP1 ENST00000336915 human ensembl 70_37 -1 known missense c.934 p.E312K 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP1 HGNC SLC1A2 6506 genome.wustl.edu 37 11 35308464 35308464 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 35308464 35308464 C G SNP SLC1A2 ENST00000278379 human ensembl 70_37 -1 known missense c.1126 p.E376Q 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC SLC1A2 6506 genome.wustl.edu 37 11 35308464 35308464 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 35308464 35308464 C G SNP SLC1A2 ENST00000278379 human ensembl 70_37 -1 known missense c.1126 p.E376Q 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC SLC4A1AP 22950 genome.wustl.edu 37 2 27892132 27892132 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 27892132 27892132 C G SNP SLC4A1AP ENST00000326019 human ensembl 70_37 +1 known nonsense c.1223 p.S408* 1.000 pfam_Ds-RNA-bd pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC SLC4A1AP 22950 genome.wustl.edu 37 2 27892132 27892132 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 27892132 27892132 C G SNP SLC4A1AP ENST00000326019 human ensembl 70_37 +1 known nonsense c.1223 p.S408* 1.000 pfam_Ds-RNA-bd pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC SLC4A4 8671 genome.wustl.edu 37 4 72432749 72432749 + Frame_Shift_Del DEL C C - TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 72432749 72432749 C - DEL SLC4A4 ENST00000425175 human ensembl 70_37 +1 known frame_shift_del c.3128 p.T1044fs 1.000 NULL 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 SLC4A4 HGNC SLC7A9 11136 genome.wustl.edu 37 19 33355545 33355545 + Silent SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 33355545 33355545 G C SNP SLC7A9 ENST00000023064 human ensembl 70_37 -1 known silent c.225 p.L75 0.023 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC SMG1 23049 genome.wustl.edu 37 16 18840660 18840660 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 18840660 18840660 G T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.9551 p.S3184Y 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SMG1 23049 genome.wustl.edu 37 16 18840660 18840660 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 18840660 18840660 G T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.9551 p.S3184Y 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SNORA71D 677840 genome.wustl.edu 37 20 37062622 37062622 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 37062622 37062622 G A SNP SNORA71D ENST00000363484 human ensembl 70_37 -1 known rna NULL NULL 0.041 - - - no_errors SNORA71D HGNC SNORA71D 677840 genome.wustl.edu 37 20 37062622 37062622 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 37062622 37062622 G A SNP SNORA71D ENST00000363484 human ensembl 70_37 -1 known rna NULL NULL 0.041 - - - no_errors SNORA71D HGNC SNORD82 25826 genome.wustl.edu 37 2 232325126 232325126 + RNA SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 232325126 232325126 T C SNP SNORD82 ENST00000365530 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD82 HGNC SNORD82 25826 genome.wustl.edu 37 2 232325126 232325126 + RNA SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 232325126 232325126 T C SNP SNORD82 ENST00000365530 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD82 HGNC SNURF 8926 genome.wustl.edu 37 15 25213164 25213164 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 25213164 25213164 G A SNP SNURF ENST00000338094 human ensembl 70_37 +1 known missense c.196 p.E66K 0.999 pfam_SNURF pfam_SNURF - no_errors SNURF HGNC SPNS3 201305 genome.wustl.edu 37 17 4388365 4388365 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 4388365 4388365 G A SNP SPNS3 ENST00000575796 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SPNS3 HGNC SRRM2 23524 genome.wustl.edu 37 16 2820872 2820872 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 2820872 2820872 G A SNP SRRM2 ENST00000574866 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SRRM2 HGNC STIL 6491 genome.wustl.edu 37 1 47748081 47748081 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 47748081 47748081 G C SNP STIL ENST00000371877 human ensembl 70_37 -1 known missense c.1184 p.S395C 1.000 NULL NULL - no_errors STIL HGNC STIL 6491 genome.wustl.edu 37 1 47748081 47748081 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 47748081 47748081 G C SNP STIL ENST00000371877 human ensembl 70_37 -1 known missense c.1184 p.S395C 1.000 NULL NULL - no_errors STIL HGNC SUSD3 203328 genome.wustl.edu 37 9 95847264 95847264 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 95847264 95847264 G A SNP SUSD3 ENST00000471462 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SUSD3 HGNC SYDE1 85360 genome.wustl.edu 37 19 15220632 15220632 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 15220632 15220632 G C SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known missense c.548 p.R183P 0.458 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC TADA2B 93624 genome.wustl.edu 37 4 7056573 7056573 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 7056573 7056573 C G SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known nonsense c.1055 p.S352* 1.000 superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC TADA2B 93624 genome.wustl.edu 37 4 7056573 7056573 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 7056573 7056573 C G SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known nonsense c.1055 p.S352* 1.000 superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC TG 7038 genome.wustl.edu 37 8 134030178 134030178 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 134030178 134030178 G C SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.6718 p.E2240Q 0.214 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC TG 7038 genome.wustl.edu 37 8 134030178 134030178 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 134030178 134030178 G C SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.6718 p.E2240Q 0.214 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC TGM6 343641 genome.wustl.edu 37 20 2411091 2411091 + Splice_Site SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 2411091 2411091 G A SNP TGM6 ENST00000202625 human ensembl 70_37 +1 known splice_site c.1679-1 e11-1 1.000 - - - no_errors TGM6 HGNC TGM6 343641 genome.wustl.edu 37 20 2411091 2411091 + Splice_Site SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 2411091 2411091 G A SNP TGM6 ENST00000202625 human ensembl 70_37 +1 known splice_site c.1679-1 e11-1 1.000 - - - no_errors TGM6 HGNC THAP5 168451 genome.wustl.edu 37 7 108205264 108205264 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 108205264 108205264 C T SNP THAP5 ENST00000415914 human ensembl 70_37 -1 known missense c.559 p.D187N 0.986 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC THAP5 168451 genome.wustl.edu 37 7 108205264 108205264 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 108205264 108205264 C T SNP THAP5 ENST00000415914 human ensembl 70_37 -1 known missense c.559 p.D187N 0.986 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC TMEM167B 56900 genome.wustl.edu 37 1 109637429 109637429 + RNA SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 109637429 109637429 C A SNP TMEM167B ENST00000479160 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors TMEM167B HGNC TMEM254 80195 genome.wustl.edu 37 10 81850650 81850650 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 81850650 81850650 C T SNP TMEM254 ENST00000372281 human ensembl 70_37 +1 known missense c.349 p.R117W 0.354 NULL NULL - no_errors TMEM254 HGNC TMEM254 80195 genome.wustl.edu 37 10 81850650 81850650 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 81850650 81850650 C T SNP TMEM254 ENST00000372281 human ensembl 70_37 +1 known missense c.349 p.R117W 0.354 NULL NULL - no_errors TMEM254 HGNC TMEM30A 55754 genome.wustl.edu 37 6 75974970 75974970 + Missense_Mutation SNP T T A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 75974970 75974970 T A SNP TMEM30A ENST00000230461 human ensembl 70_37 -1 known missense c.430 p.N144Y 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30A HGNC TMTC1 83857 genome.wustl.edu 37 12 29936472 29936472 + Nonsense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 29936472 29936472 C T SNP TMTC1 ENST00000539277 human ensembl 70_37 -1 putative nonsense c.213 p.W71* 0.991 NULL pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC TMTC1 83857 genome.wustl.edu 37 12 29936515 29936515 + Missense_Mutation SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 29936515 29936515 A G SNP TMTC1 ENST00000539277 human ensembl 70_37 -1 putative missense c.170 p.I57T 1.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC TOX3 27324 genome.wustl.edu 37 16 52473494 52473494 + Missense_Mutation SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 52473494 52473494 C A SNP TOX3 ENST00000219746 human ensembl 70_37 -1 known missense c.1374 p.Q458H 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX3 HGNC TRIM56 81844 genome.wustl.edu 37 7 100733756 100733756 + RNA SNP T T G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 100733756 100733756 T G SNP TRIM56 ENST00000487252 human ensembl 70_37 +1 putative rna NULL NULL 0.241 - - - no_errors TRIM56 HGNC TTK 7272 genome.wustl.edu 37 6 80749569 80749569 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 80749569 80749569 G C SNP TTK ENST00000369798 human ensembl 70_37 +1 known missense c.2287 p.D763H 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 TTK HGNC TTK 7272 genome.wustl.edu 37 6 80749569 80749569 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 80749569 80749569 G C SNP TTK ENST00000369798 human ensembl 70_37 +1 known missense c.2287 p.D763H 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 TTK HGNC TTN 7273 genome.wustl.edu 37 2 179638218 179638218 + Missense_Mutation SNP A A T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 179638218 179638218 A T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.7565 p.V2522D 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179638218 179638218 + Missense_Mutation SNP A A T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 179638218 179638218 A T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.7565 p.V2522D 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBGCP6 85378 genome.wustl.edu 37 22 50657188 50657188 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 50657188 50657188 C T SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.4765 p.E1589K 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC TUBGCP6 85378 genome.wustl.edu 37 22 50657188 50657188 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 50657188 50657188 C T SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.4765 p.E1589K 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC TYK2 7297 genome.wustl.edu 37 19 10478851 10478851 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 10478851 10478851 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.345 p.M115I 0.011 smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC TYK2 7297 genome.wustl.edu 37 19 10478851 10478851 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 10478851 10478851 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.345 p.M115I 0.011 smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC UGT2A3 79799 genome.wustl.edu 37 4 69817035 69817035 + Missense_Mutation SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 69817035 69817035 T C SNP UGT2A3 ENST00000251566 human ensembl 70_37 -1 known missense c.444 p.I148M 0.022 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC USP11 8237 genome.wustl.edu 37 X 47101546 47101546 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 47101546 47101546 C T SNP USP11 ENST00000218348 human ensembl 70_37 +1 known silent c.1374 p.F458 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC USP11 8237 genome.wustl.edu 37 X 47101546 47101546 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 47101546 47101546 C T SNP USP11 ENST00000218348 human ensembl 70_37 +1 known silent c.1374 p.F458 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC UTP3 57050 genome.wustl.edu 37 4 71554691 71554693 + In_Frame_Del DEL GGA GGA - TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 71554691 71554693 GGA - DEL UTP3 ENST00000254803 human ensembl 70_37 +1 known in_frame_del c.297_299 p.E103in_frame_del 0.002:0.002:0.002 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC WDPCP 51057 genome.wustl.edu 37 2 63401965 63401965 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 63401965 63401965 G A SNP WDPCP ENST00000272321 human ensembl 70_37 -1 known missense c.1918 p.L640F 1.000 NULL pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC WDPCP 51057 genome.wustl.edu 37 2 63401965 63401965 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 63401965 63401965 G A SNP WDPCP ENST00000272321 human ensembl 70_37 -1 known missense c.1918 p.L640F 1.000 NULL pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ZFHX2 85446 genome.wustl.edu 37 14 24004432 24004432 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 24004432 24004432 C T SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.103 p.D35N 0.996 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 ZFP36L1 677 genome.wustl.edu 37 14 69256314 69256314 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 69256314 69256314 G A SNP ZFP36L1 ENST00000336440 human ensembl 70_37 -1 known missense c.953 p.S318F 1.000 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ZFP36L1 677 genome.wustl.edu 37 14 69256775 69256775 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 69256775 69256775 G A SNP ZFP36L1 ENST00000336440 human ensembl 70_37 -1 known silent c.492 p.I164 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ZFP36L1 677 genome.wustl.edu 37 14 69256775 69256775 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 69256775 69256775 G A SNP ZFP36L1 ENST00000336440 human ensembl 70_37 -1 known silent c.492 p.I164 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ZMAT4 79698 genome.wustl.edu 37 8 40532227 40532227 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 40532227 40532227 C T SNP ZMAT4 ENST00000297737 human ensembl 70_37 -1 known silent c.573 p.L191 0.885 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ZMAT4 79698 genome.wustl.edu 37 8 40532227 40532227 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 40532227 40532227 C T SNP ZMAT4 ENST00000297737 human ensembl 70_37 -1 known silent c.573 p.L191 0.885 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ZNF182 7569 genome.wustl.edu 37 X 47837064 47837064 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 47837064 47837064 C G SNP ZNF182 ENST00000305127 human ensembl 70_37 -1 known missense c.422 p.G141A 0.000 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 ZNF182 HGNC ZNF182 7569 genome.wustl.edu 37 X 47837064 47837064 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 47837064 47837064 C G SNP ZNF182 ENST00000305127 human ensembl 70_37 -1 known missense c.422 p.G141A 0.000 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 ZNF182 HGNC ZNF200 7752 genome.wustl.edu 37 16 3274470 3274470 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 3274470 3274470 G A SNP ZNF200 ENST00000414144 human ensembl 70_37 -1 known nonsense c.610 p.R204* 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF200 HGNC ZNF415 55786 genome.wustl.edu 37 19 53612640 53612640 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 53612640 53612640 C G SNP ZNF415 ENST00000448501 human ensembl 70_37 -1 known missense c.802 p.E268Q 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ZNF79 7633 genome.wustl.edu 37 9 130207191 130207191 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 130207191 130207191 C T SNP ZNF79 ENST00000342483 human ensembl 70_37 +1 known silent c.1212 p.L404 0.288 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ZNF79 7633 genome.wustl.edu 37 9 130207191 130207191 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 130207191 130207191 C T SNP ZNF79 ENST00000342483 human ensembl 70_37 +1 known silent c.1212 p.L404 0.288 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ZNF808 388558 genome.wustl.edu 37 19 53057628 53057628 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 53057628 53057628 G C SNP ZNF808 ENST00000359798 human ensembl 70_37 +1 known missense c.1459 p.E487Q 0.003 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 ZNF808 HGNC ZNF808 388558 genome.wustl.edu 37 19 53057628 53057628 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 53057628 53057628 G C SNP ZNF808 ENST00000359798 human ensembl 70_37 +1 known missense c.1459 p.E487Q 0.003 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 ZNF808 HGNC