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 ABCB4 5244 genome.wustl.edu 37 7 87041264 87041264 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 87041264 87041264 G A SNP ABCB4 ENST00000265723 human ensembl 70_37 -1 known nonsense c.2869 p.R957* 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ACOT13 55856 genome.wustl.edu 37 6 24701842 24701842 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 24701842 24701842 G A SNP ACOT13 ENST00000230048 human ensembl 70_37 +1 known silent c.422 p.*141 0.949 NULL pfam_Thioestr_supf,tigrfam_PAAI_dom - no_errors ACOT13 HGNC ACPT 93650 genome.wustl.edu 37 19 51297831 51297831 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 51297831 51297831 G C SNP ACPT ENST00000270594 human ensembl 70_37 +1 known missense c.700 p.D234H 0.001 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ADAL 161823 genome.wustl.edu 37 15 43628873 43628873 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 43628873 43628873 G C SNP ADAL ENST00000422466 human ensembl 70_37 +1 known missense c.244 p.D82H 1.000 pfam_A/AMP_deaminase_dom pfam_A/AMP_deaminase_dom - no_errors ADAL HGNC ADAM17 6868 genome.wustl.edu 37 2 9676906 9676906 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 9676906 9676906 G C SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known missense c.282 p.F94L 1.000 pfam_Peptidase_M12B_N pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ADCY5 111 genome.wustl.edu 37 3 123003469 123003469 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 123003469 123003469 G T SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known missense c.3772 p.P1258T 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ADCY8 114 genome.wustl.edu 37 8 131949350 131949350 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 131949350 131949350 C T SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known missense c.1450 p.E484K 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_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 ADCY8 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105413217 105413217 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 105413217 105413217 C G SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.8571 p.K2857N 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AIFM3 150209 genome.wustl.edu 37 22 21329099 21329099 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 21329099 21329099 C T SNP AIFM3 ENST00000399167 human ensembl 70_37 +1 known silent c.714 p.L238 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ALG1L13P 0 genome.wustl.edu 37 8 8097770 8097770 + RNA SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 8097770 8097770 G C SNP ALG1L13P ENST00000522393 human ensembl 70_37 -1 known rna NULL NULL 0.160 - - - no_errors ALG1L13P HGNC AMICA1 120425 genome.wustl.edu 37 11 118081245 118081245 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 118081245 118081245 G A SNP AMICA1 ENST00000356289 human ensembl 70_37 -1 known silent c.381 p.F127 0.929 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors AMICA1 HGNC ANKLE2 23141 genome.wustl.edu 37 12 133313568 133313568 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 133313568 133313568 C T SNP ANKLE2 ENST00000357997 human ensembl 70_37 -1 known missense c.1504 p.E502K 0.017 NULL pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM - no_errors ANKLE2 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9281101 9281101 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 18 9281101 9281101 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.6166 p.D2056N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD36BP2 645784 genome.wustl.edu 37 2 89065610 89065610 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 89065610 89065610 C T SNP ANKRD36BP2 ENST00000393515 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors ANKRD36BP2 HGNC ANXA2R 389289 genome.wustl.edu 37 5 43039952 43039952 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 43039952 43039952 C T SNP ANXA2R ENST00000314890 human ensembl 70_37 -1 known missense c.197 p.G66E 0.000 NULL NULL - no_errors ANXA2R HGNC AP4B1 10717 genome.wustl.edu 37 1 114443928 114443928 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 114443928 114443928 G A SNP AP4B1 ENST00000256658 human ensembl 70_37 -1 known silent c.547 p.L183 0.997 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC APLP1 333 genome.wustl.edu 37 19 36365690 36365690 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 36365690 36365690 G C SNP APLP1 ENST00000221891 human ensembl 70_37 +1 known missense c.1263 p.Q421H 1.000 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ARRDC1 92714 genome.wustl.edu 37 9 140508900 140508900 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 140508900 140508900 C T SNP ARRDC1 ENST00000371421 human ensembl 70_37 +1 known silent c.768 p.S256 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC1 HGNC ATG9A 79065 genome.wustl.edu 37 2 220087138 220087138 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 220087138 220087138 G A SNP ATG9A ENST00000361242 human ensembl 70_37 -1 known missense c.1883 p.S628L 0.999 NULL pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ATP2A2 488 genome.wustl.edu 37 12 110734533 110734533 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 110734533 110734533 G C SNP ATP2A2 ENST00000539276 human ensembl 70_37 +1 known missense c.454 p.E152Q 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A2 HGNC ATP2A3 489 genome.wustl.edu 37 17 3839609 3839609 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 3839609 3839609 C T SNP ATP2A3 ENST00000359983 human ensembl 70_37 -1 known missense c.2476 p.E826K 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A3 HGNC ATP2A3 489 genome.wustl.edu 37 17 3839724 3839724 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 3839724 3839724 C T SNP ATP2A3 ENST00000359983 human ensembl 70_37 -1 known silent c.2361 p.L787 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A3 HGNC ATXN7L1 222255 genome.wustl.edu 37 7 105254455 105254455 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 105254455 105254455 C T SNP ATXN7L1 ENST00000419735 human ensembl 70_37 -1 known missense c.2326 p.E776K 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ATXN7L1 222255 genome.wustl.edu 37 7 105305653 105305653 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 105305653 105305653 C T SNP ATXN7L1 ENST00000419735 human ensembl 70_37 -1 known silent c.438 p.V146 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC BBS9 27241 genome.wustl.edu 37 7 33313525 33313525 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 33313525 33313525 C G SNP BBS9 ENST00000242067 human ensembl 70_37 +1 known missense c.973 p.Q325E 1.000 NULL NULL - no_errors BBS9 HGNC BEND2 139105 genome.wustl.edu 37 X 18189170 18189170 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 18189170 18189170 C T SNP BEND2 ENST00000380033 human ensembl 70_37 -1 known silent c.2136 p.L712 0.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND2 HGNC BEND3 57673 genome.wustl.edu 37 6 107419825 107419825 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 107419825 107419825 C T SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known missense c.170 p.R57Q 0.993 NULL pfam_BEN_domain - no_errors BEND3 HGNC BIRC2 329 genome.wustl.edu 37 11 102248819 102248819 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 102248819 102248819 C G SNP BIRC2 ENST00000227758 human ensembl 70_37 +1 known missense c.1762 p.H588D 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC BNC2 54796 genome.wustl.edu 37 9 16436817 16436817 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 16436817 16436817 G A SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known missense c.1375 p.H459Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC BNIP2 663 genome.wustl.edu 37 15 59970209 59970209 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 59970209 59970209 C G SNP BNIP2 ENST00000267859 human ensembl 70_37 -1 known missense c.736 p.E246Q 1.000 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIP2 HGNC BRD1 23774 genome.wustl.edu 37 22 50217320 50217320 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 50217320 50217320 C T SNP BRD1 ENST00000216267 human ensembl 70_37 -1 known missense c.646 p.V216M 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD1 HGNC BRE 9577 genome.wustl.edu 37 2 28248247 28248247 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 28248247 28248247 G C SNP BRE ENST00000344773 human ensembl 70_37 +1 known missense c.455 p.G152A 1.000 pfam_Brain/reproduct-express_prot pfam_Brain/reproduct-express_prot - no_errors BRE HGNC BRWD3 254065 genome.wustl.edu 37 X 79946590 79946590 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 79946590 79946590 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known silent c.3564 p.L1188 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC BRWD3 254065 genome.wustl.edu 37 X 79980505 79980505 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 79980505 79980505 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.1448 p.S483L 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC BST1 683 genome.wustl.edu 37 4 15709241 15709241 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 15709241 15709241 G C SNP BST1 ENST00000265016 human ensembl 70_37 +1 known missense c.423 p.L141F 0.998 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC BVES-AS1 154442 genome.wustl.edu 37 6 105614566 105614566 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 105614566 105614566 G A SNP BVES-AS1 ENST00000369122 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors BVES-AS1 HGNC C12orf45 121053 genome.wustl.edu 37 12 105388413 105388413 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 105388413 105388413 C T SNP C12orf45 ENST00000552951 human ensembl 70_37 +1 known missense c.497 p.S166F 0.920 NULL NULL - no_errors C12orf45 HGNC C17orf75 64149 genome.wustl.edu 37 17 30658984 30658984 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 30658984 30658984 G T SNP C17orf75 ENST00000225805 human ensembl 70_37 -1 known missense c.989 p.T330K 1.000 NULL NULL - no_errors C17orf75 HGNC C2orf54 79919 genome.wustl.edu 37 2 241830999 241830999 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 241830999 241830999 G A SNP C2orf54 ENST00000388934 human ensembl 70_37 -1 known silent c.696 p.L232 0.000 NULL NULL - no_errors C2orf54 HGNC C4orf21 55345 genome.wustl.edu 37 4 113460799 113460799 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 113460799 113460799 C G SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known silent c.6219 p.L2073 0.993 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC C6orf1 221491 genome.wustl.edu 37 6 34214351 34214351 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 34214351 34214351 G A SNP C6orf1 ENST00000394990 human ensembl 70_37 -1 known silent c.420 p.L140 0.001 NULL NULL - no_errors C6orf1 HGNC C6orf164 63914 genome.wustl.edu 37 6 88109152 88109152 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 88109152 88109152 G C SNP C6orf164 ENST00000369572 human ensembl 70_37 +1 known missense c.164 p.G55A 0.002 NULL NULL - no_errors C6orf164 HGNC C8G 733 genome.wustl.edu 37 9 139840549 139840549 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 139840549 139840549 G A SNP C8G ENST00000224181 human ensembl 70_37 +1 known missense c.359 p.R120Q 0.015 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin - no_errors C8G HGNC CACNA1B 774 genome.wustl.edu 37 9 140954116 140954116 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 140954116 140954116 G C SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.4598 p.R1533T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CACNA1F 778 genome.wustl.edu 37 X 49071932 49071932 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 49071932 49071932 G A SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.3341 p.S1114L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC CACNA2D2 9254 genome.wustl.edu 37 3 50407782 50407782 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 50407782 50407782 C G SNP CACNA2D2 ENST00000435965 human ensembl 70_37 -1 known missense c.2035 p.E679Q 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC CAPRIN2 65981 genome.wustl.edu 37 12 30887963 30887963 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 30887963 30887963 C G SNP CAPRIN2 ENST00000251071 human ensembl 70_37 -1 known missense c.748 p.E250Q 1.000 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC CARD14 79092 genome.wustl.edu 37 17 78166351 78166351 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 78166351 78166351 G C SNP CARD14 ENST00000344227 human ensembl 70_37 +1 known missense c.1289 p.R430P 0.998 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin - no_errors CARD14 HGNC CCDC12 151903 genome.wustl.edu 37 3 47018170 47018170 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 47018170 47018170 C T SNP CCDC12 ENST00000292314 human ensembl 70_37 -1 known missense c.92 p.R31Q 0.989 pfam_mRNA_splic_Cwf18 pfam_mRNA_splic_Cwf18 - no_errors CCDC12 HGNC CCDC141 285025 genome.wustl.edu 37 2 179698970 179698970 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 179698970 179698970 C G SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known missense c.4523 p.R1508T 0.987 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC CCDC158 339965 genome.wustl.edu 37 4 77288626 77288626 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 77288626 77288626 C T SNP CCDC158 ENST00000388914 human ensembl 70_37 -1 known missense c.1651 p.E551K 0.997 superfamily_Prefoldin superfamily_Prefoldin - no_errors CCDC158 HGNC CCDC79 283847 genome.wustl.edu 37 16 66822113 66822113 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 66822113 66822113 C G SNP CCDC79 ENST00000433154 human ensembl 70_37 -1 known missense c.359 p.R120T 1.000 superfamily_ARM-type_fold pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb - no_errors CCDC79 HGNC CCDC81 60494 genome.wustl.edu 37 11 86126335 86126335 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 86126335 86126335 G C SNP CCDC81 ENST00000445632 human ensembl 70_37 +1 known missense c.1671 p.M557I 1.000 NULL superfamily_IHF-like_DNA-bd - no_errors CCDC81 HGNC CD40LG 959 genome.wustl.edu 37 X 135730506 135730506 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 135730506 135730506 C G SNP CD40LG ENST00000370629 human ensembl 70_37 +1 known missense c.99 p.I33M 0.921 pirsf_TNF_ligand_5,prints_TNF_ligand_5 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5 - no_errors CD40LG HGNC CDH6 1004 genome.wustl.edu 37 5 31317953 31317953 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 31317953 31317953 G A SNP CDH6 ENST00000265071 human ensembl 70_37 +1 known missense c.1804 p.A602T 0.994 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC CDH8 1006 genome.wustl.edu 37 16 61747856 61747856 + Nonsense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 61747856 61747856 G C SNP CDH8 ENST00000585315 human ensembl 70_37 -1 known nonsense c.1421 p.S474* 1.000 smart_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC CDH9 1007 genome.wustl.edu 37 5 26885933 26885933 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 26885933 26885933 G A SNP CDH9 ENST00000231021 human ensembl 70_37 -1 known missense c.1672 p.R558C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC CDHR1 92211 genome.wustl.edu 37 10 85968517 85968517 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 85968517 85968517 G A SNP CDHR1 ENST00000372117 human ensembl 70_37 +1 known silent c.1200 p.V400 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC CDK2 1017 genome.wustl.edu 37 12 56365402 56365402 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 56365402 56365402 G A SNP CDK2 ENST00000266970 human ensembl 70_37 +1 known missense c.890 p.R297Q 0.999 superfamily_Kinase-like_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 CDK2 HGNC CDKL2 8999 genome.wustl.edu 37 4 76522182 76522182 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 76522182 76522182 G A SNP CDKL2 ENST00000429927 human ensembl 70_37 -1 known missense c.1259 p.S420F 0.999 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 CDKL2 HGNC CDX2 1045 genome.wustl.edu 37 13 28539078 28539078 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 28539078 28539078 G A SNP CDX2 ENST00000381020 human ensembl 70_37 -1 known missense c.616 p.H206Y 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC CELA2A 63036 genome.wustl.edu 37 1 15789917 15789917 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 15789917 15789917 C T SNP CELA2A ENST00000359621 human ensembl 70_37 +1 known silent c.393 p.V131 0.289 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA2A HGNC CELF5 60680 genome.wustl.edu 37 19 3224933 3224933 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 3224933 3224933 G C SNP CELF5 ENST00000292672 human ensembl 70_37 +1 known missense c.196 p.E66Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC CEP350 9857 genome.wustl.edu 37 1 180062302 180062302 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 180062302 180062302 G C SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.7062 p.K2354N 0.361 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC CEP350 9857 genome.wustl.edu 37 1 180063347 180063347 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 180063347 180063347 G C SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.8107 p.E2703Q 0.001 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC CGN 57530 genome.wustl.edu 37 1 151491199 151491199 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 151491199 151491199 C G SNP CGN ENST00000271636 human ensembl 70_37 +1 known silent c.204 p.L68 0.994 NULL pfam_Myosin_tail - no_errors CGN HGNC CHD6 84181 genome.wustl.edu 37 20 40043882 40043882 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 40043882 40043882 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.6883 p.E2295K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC CHIC1 53344 genome.wustl.edu 37 X 72901147 72901147 + RNA SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 72901147 72901147 G C SNP CHIC1 ENST00000498318 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CHIC1 HGNC CHL1 10752 genome.wustl.edu 37 3 369910 369910 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 369910 369910 G A SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known silent c.258 p.S86 0.004 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CHL1 HGNC CHRM1 1128 genome.wustl.edu 37 11 62678196 62678196 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 62678196 62678196 G T SNP CHRM1 ENST00000306960 human ensembl 70_37 -1 known missense c.377 p.S126Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M1_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC CITED1 4435 genome.wustl.edu 37 X 71521706 71521706 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 71521706 71521706 G A SNP CITED1 ENST00000431381 human ensembl 70_37 -1 known missense c.527 p.S176L 0.713 pfam_CITED pfam_CITED - no_errors CITED1 HGNC CLASP2 23122 genome.wustl.edu 37 3 33638217 33638217 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 33638217 33638217 G C SNP CLASP2 ENST00000399362 human ensembl 70_37 -1 known missense c.1934 p.S645C 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC CLEC4C 170482 genome.wustl.edu 37 12 7882230 7882230 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 7882230 7882230 G A SNP CLEC4C ENST00000360345 human ensembl 70_37 -1 known nonsense c.604 p.Q202* 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4C HGNC CLOCK 9575 genome.wustl.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 56336954 56336954 A - DEL CLOCK ENST00000309964 human ensembl 70_37 -1 known frame_shift_del c.368 p.L123fs 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC COL19A1 1310 genome.wustl.edu 37 6 70851961 70851961 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 70851961 70851961 G T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.1565 p.G522V 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC COL5A2 1290 genome.wustl.edu 37 2 189929375 189929375 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 189929375 189929375 G A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known nonsense c.1624 p.Q542* 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC CORO1C 23603 genome.wustl.edu 37 12 109051199 109051199 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 109051199 109051199 C T SNP CORO1C ENST00000420959 human ensembl 70_37 -1 known missense c.790 p.E264K 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1C HGNC CPSF1 29894 genome.wustl.edu 37 8 145624722 145624722 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 145624722 145624722 C G SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.1336 p.E446Q 0.999 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CR1L 1379 genome.wustl.edu 37 1 207881609 207881609 + Splice_Site SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 207881609 207881609 G A SNP CR1L ENST00000508064 human ensembl 70_37 +1 known splice_site c.1414+1 e10+1 0.444 - - - no_errors CR1L HGNC CS 1431 genome.wustl.edu 37 12 56693956 56693956 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 56693956 56693956 G C SNP CS ENST00000351328 human ensembl 70_37 -1 known silent c.30 p.L10 1.000 NULL pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk - no_errors CS HGNC CTNNB1 1499 genome.wustl.edu 37 3 41279559 41279559 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 41279559 41279559 G A SNP CTNNB1 ENST00000349496 human ensembl 70_37 +1 known missense c.2129 p.R710H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC CTSA 5476 genome.wustl.edu 37 20 44520238 44520240 + In_Frame_Del DEL CTG CTG - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 44520238 44520240 CTG - DEL CTSA ENST00000372484 human ensembl 70_37 +1 known in_frame_del c.85_87 p.L32in_frame_del 0.155:0.311:0.361 NULL pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC CTTN 2017 genome.wustl.edu 37 11 70275181 70275181 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 70275181 70275181 G C SNP CTTN ENST00000301843 human ensembl 70_37 +1 known missense c.1052 p.R351T 1.000 NULL pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC CTTNBP2 83992 genome.wustl.edu 37 7 117451012 117451012 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 117451012 117451012 C A SNP CTTNBP2 ENST00000160373 human ensembl 70_37 -1 known missense c.221 p.R74L 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC DAZAP1 26528 genome.wustl.edu 37 19 1430343 1430343 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 1430343 1430343 G A SNP DAZAP1 ENST00000233078 human ensembl 70_37 +1 known missense c.853 p.G285S 0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC DBN1 1627 genome.wustl.edu 37 5 176894312 176894312 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 176894312 176894312 C G SNP DBN1 ENST00000292385 human ensembl 70_37 -1 known missense c.505 p.D169H 0.742 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC DCAF5 8816 genome.wustl.edu 37 14 69522025 69522025 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 69522025 69522025 C G SNP DCAF5 ENST00000341516 human ensembl 70_37 -1 known missense c.1378 p.E460Q 0.984 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC DDI1 414301 genome.wustl.edu 37 11 103908011 103908011 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 103908011 103908011 C T SNP DDI1 ENST00000302259 human ensembl 70_37 +1 known missense c.461 p.P154L 0.993 NULL pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC DENND2C 163259 genome.wustl.edu 37 1 115143494 115143494 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 115143494 115143494 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.1903 p.A635T 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC DENND2C 163259 genome.wustl.edu 37 1 115166239 115166239 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 115166239 115166239 G A SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known nonsense c.832 p.Q278* 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC DIS3L 115752 genome.wustl.edu 37 15 66625346 66625346 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 66625346 66625346 G C SNP DIS3L ENST00000319212 human ensembl 70_37 +1 known missense c.2861 p.R954T 0.166 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC DLL3 10683 genome.wustl.edu 37 19 39994804 39994804 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 39994804 39994804 C T SNP DLL3 ENST00000205143 human ensembl 70_37 +1 known missense c.746 p.T249M 0.701 smart_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors DLL3 HGNC DLX4 1748 genome.wustl.edu 37 17 48051276 48051276 + Nonsense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 48051276 48051276 C G SNP DLX4 ENST00000240306 human ensembl 70_37 +1 known nonsense c.692 p.S231* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX4 HGNC DMD 1756 genome.wustl.edu 37 X 32382743 32382743 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 32382743 32382743 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.5110 p.E1704K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DMWD 1762 genome.wustl.edu 37 19 46289821 46289821 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 46289821 46289821 G A SNP DMWD ENST00000270223 human ensembl 70_37 -1 known silent c.933 p.F311 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC DMWD 1762 genome.wustl.edu 37 19 46290067 46290067 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 46290067 46290067 G C SNP DMWD ENST00000270223 human ensembl 70_37 -1 known missense c.687 p.F229L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC DNAH5 1767 genome.wustl.edu 37 5 13829760 13829760 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 13829760 13829760 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known silent c.6303 p.F2101 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DNAJC10 54431 genome.wustl.edu 37 2 183584845 183584845 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 183584845 183584845 G A SNP DNAJC10 ENST00000264065 human ensembl 70_37 +1 known missense c.316 p.D106N 1.000 superfamily_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,prints_Hsp_DnaJ pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin - no_errors DNAJC10 HGNC DPAGT1 1798 genome.wustl.edu 37 11 118968001 118968001 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 118968001 118968001 C G SNP DPAGT1 ENST00000354202 human ensembl 70_37 -1 known missense c.1012 p.E338Q 1.000 NULL pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC DSG3 1830 genome.wustl.edu 37 18 29056197 29056197 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 18 29056197 29056197 G A SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.2974 p.E992K 0.942 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC DST 667 genome.wustl.edu 37 6 56472305 56472305 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 56472305 56472305 C T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.7022 p.R2341Q 0.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DSTN 11034 genome.wustl.edu 37 20 17585273 17585273 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 17585273 17585273 C G SNP DSTN ENST00000246069 human ensembl 70_37 +1 known missense c.385 p.Q129E 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC DSTN 11034 genome.wustl.edu 37 20 17587697 17587697 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 17587697 17587697 G T SNP DSTN ENST00000246069 human ensembl 70_37 +1 known missense c.404 p.C135F 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC MICU3 286097 genome.wustl.edu 37 8 16962944 16962944 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 16962944 16962944 G C SNP EFHA2 ENST00000318063 human ensembl 70_37 +1 known missense c.1108 p.E370Q 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHA2 HGNC EIF3K 27335 genome.wustl.edu 37 19 39114771 39114771 + Silent SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 39114771 39114771 G T SNP EIF3K ENST00000248342 human ensembl 70_37 +1 known silent c.213 p.L71 1.000 pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold - no_errors EIF3K HGNC ELMOD3 84173 genome.wustl.edu 37 2 85598618 85598618 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 85598618 85598618 G A SNP ELMOD3 ENST00000315658 human ensembl 70_37 +1 known silent c.540 p.K180 1.000 pfam_Engulfment_cell_motility_ELMO pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD3 HGNC EMD 2010 genome.wustl.edu 37 X 153609278 153609278 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 153609278 153609278 G A SNP EMD ENST00000369842 human ensembl 70_37 +1 known silent c.486 p.Q162 0.998 NULL pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors EMD HGNC ENSG00000203691 0 genome.wustl.edu 37 1 225601659 225601659 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 225601659 225601659 G C SNP ENSG00000203691 ENST00000366845 human ensembl 70_37 +1 known missense c.84 p.K28N 0.004 NULL NULL - no_errors AC092811.1 Clone_based_ensembl_gene ENSG00000212939 0 genome.wustl.edu 37 22 49947424 49947424 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 49947424 49947424 G A SNP ENSG00000212939 ENST00000391625 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-29C18.10 Clone_based_vega_gene ENSG00000213109 0 genome.wustl.edu 37 6 137222245 137222245 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 137222245 137222245 C T SNP ENSG00000213109 ENST00000574864 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-55K22.2 Clone_based_vega_gene ENSG00000226593 0 genome.wustl.edu 37 19 1278930 1278930 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 1278930 1278930 G A SNP ENSG00000226593 ENST00000416408 human ensembl 70_37 +1 known missense c.121 p.E41K 0.001 NULL NULL - no_errors C19ORF24 Uniprot_genename ENSG00000226803 0 genome.wustl.edu 37 6 57015509 57015509 + RNA SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 57015509 57015509 C G SNP ENSG00000226803 ENST00000589263 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors RP11-203B9.4 Clone_based_vega_gene ENSG00000227781 0 genome.wustl.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 48968566 48968566 A G SNP ENSG00000227781 ENST00000438010 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors GLUDP2 Clone_based_vega_gene ENSG00000235077 0 genome.wustl.edu 37 7 99737962 99737962 + RNA SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 99737962 99737962 G C SNP ENSG00000235077 ENST00000376482 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC073842.19 Clone_based_vega_gene ENSG00000256690 0 genome.wustl.edu 37 11 62601423 62601423 + RNA SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 62601423 62601423 G T SNP ENSG00000256690 ENST00000535817 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-727F15.9 Clone_based_vega_gene ENSG00000258427 0 genome.wustl.edu 37 14 60864642 60864642 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 60864642 60864642 C T SNP ENSG00000258427 ENST00000601298 human ensembl 70_37 +1 known rna NULL NULL 0.970 - - - no_errors CTD-2568P8.3 Clone_based_vega_gene ENSG00000260276 0 genome.wustl.edu 37 16 8948920 8948920 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 8948920 8948920 G A SNP ENSG00000260276 ENST00000565934 human ensembl 70_37 +1 known rna NULL NULL 0.099 - - - no_errors RP11-77H9.2 Clone_based_vega_gene ENSG00000267122 0 genome.wustl.edu 37 19 2214634 2214634 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 2214634 2214634 C T SNP ENSG00000267122 ENST00000585593 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC004490.1 Clone_based_vega_gene ENSG00000268310 0 genome.wustl.edu 37 17 76212746 76212746 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 76212746 76212746 G C SNP ENSG00000268310 ENST00000600484 human ensembl 70_37 -1 known missense c.851 p.S284C 0.989 NULL NULL - no_errors AC087645.1 Clone_based_ensembl_gene EPHA1 2041 genome.wustl.edu 37 7 143090861 143090861 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 143090861 143090861 G C SNP EPHA1 ENST00000275815 human ensembl 70_37 -1 known missense c.2599 p.R867G 0.812 pirsf_Tyr_kinase_ephrin_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA1 HGNC EPHA7 2045 genome.wustl.edu 37 6 94068049 94068049 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 94068049 94068049 C T SNP EPHA7 ENST00000369303 human ensembl 70_37 -1 known missense c.913 p.E305K 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA7 HGNC EPS8 2059 genome.wustl.edu 37 12 15800130 15800130 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 15800130 15800130 C G SNP EPS8 ENST00000281172 human ensembl 70_37 -1 known missense c.1499 p.R500T 0.998 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC EPS8L3 79574 genome.wustl.edu 37 1 110301890 110301890 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 110301890 110301890 G T SNP EPS8L3 ENST00000369805 human ensembl 70_37 -1 known missense c.375 p.S125R 0.863 pfam_PTB pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC EXTL3 2137 genome.wustl.edu 37 8 28574932 28574932 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 28574932 28574932 C T SNP EXTL3 ENST00000220562 human ensembl 70_37 +1 known silent c.1356 p.F452 0.691 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC F8 2157 genome.wustl.edu 37 X 154066021 154066021 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 154066021 154066021 G C SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.6907 p.Q2303E 0.986 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC FAM168A 23201 genome.wustl.edu 37 11 73122475 73122475 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 73122475 73122475 G C SNP FAM168A ENST00000064778 human ensembl 70_37 -1 known missense c.411 p.I137M 1.000 NULL NULL - no_errors FAM168A HGNC FAM179A 165186 genome.wustl.edu 37 2 29225481 29225481 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 29225481 29225481 G C SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known silent c.507 p.L169 0.508 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC FAM208B 54906 genome.wustl.edu 37 10 5782322 5782322 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 5782322 5782322 C A SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.2189 p.S730Y 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FAM227B 196951 genome.wustl.edu 37 15 49860490 49860490 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 49860490 49860490 C T SNP FAM227B ENST00000299338 human ensembl 70_37 -1 known silent c.699 p.V233 0.966 NULL NULL - no_errors FAM227B HGNC FAM83G 644815 genome.wustl.edu 37 17 18882047 18882047 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 18882047 18882047 C G SNP FAM83G ENST00000345041 human ensembl 70_37 -1 known missense c.932 p.S311T 1.000 NULL pfam_DUF1669 - no_errors FAM83G HGNC FBXO11 80204 genome.wustl.edu 37 2 48040408 48040408 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 48040408 48040408 C G SNP FBXO11 ENST00000403359 human ensembl 70_37 -1 known missense c.2192 p.R731T 1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC FBXO9 26268 genome.wustl.edu 37 6 52935903 52935903 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 52935903 52935903 G A SNP FBXO9 ENST00000244426 human ensembl 70_37 +1 known missense c.82 p.D28N 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO9 HGNC FER 2241 genome.wustl.edu 37 5 108168644 108168644 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 108168644 108168644 G T SNP FER ENST00000281092 human ensembl 70_37 +1 known missense c.381 p.K127N 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FER HGNC FEZ1 9638 genome.wustl.edu 37 11 125315969 125315969 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 125315969 125315969 G A SNP FEZ1 ENST00000526507 human ensembl 70_37 -1 known rna NULL NULL 0.151 - - - no_errors FEZ1 HGNC FLG 2312 genome.wustl.edu 37 1 152275379 152275379 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 152275379 152275379 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.11983 p.Q3995E 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLG 2312 genome.wustl.edu 37 1 152276263 152276263 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 152276263 152276263 G A SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.11099 p.S3700L 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLJ12825 440101 genome.wustl.edu 37 12 54515536 54515536 + RNA DEL C C - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 54515536 54515536 C - DEL FLJ12825 ENST00000515617 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-834C11.3 Clone_based_vega_gene FLNA 2316 genome.wustl.edu 37 X 153599551 153599551 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 153599551 153599551 G C SNP FLNA ENST00000369850 human ensembl 70_37 -1 known silent c.63 p.V21 0.000 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC FMOD 2331 genome.wustl.edu 37 1 203316850 203316850 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 203316850 203316850 G A SNP FMOD ENST00000354955 human ensembl 70_37 -1 known silent c.549 p.L183 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC FMR1 2332 genome.wustl.edu 37 X 147026442 147026442 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 147026442 147026442 G A SNP FMR1 ENST00000370475 human ensembl 70_37 +1 known missense c.1525 p.E509K 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC FNDC3B 64778 genome.wustl.edu 37 3 171969126 171969126 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 171969126 171969126 G A SNP FNDC3B ENST00000336824 human ensembl 70_37 +1 known silent c.585 p.L195 0.995 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC FNIP2 57600 genome.wustl.edu 37 4 159789970 159789970 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 159789970 159789970 G C SNP FNIP2 ENST00000379346 human ensembl 70_37 +1 known missense c.2251 p.E751Q 1.000 NULL NULL - no_errors FNIP2 HGNC FOSL2 2355 genome.wustl.edu 37 2 28616645 28616645 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 28616645 28616645 C G SNP FOSL2 ENST00000264716 human ensembl 70_37 +1 known missense c.58 p.P20A 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC FRMPD4 9758 genome.wustl.edu 37 X 12736237 12736237 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 12736237 12736237 G A SNP FRMPD4 ENST00000380682 human ensembl 70_37 +1 known missense c.3292 p.E1098K 0.980 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC FTH1P10 2502 genome.wustl.edu 37 5 17354209 17354209 + RNA SNP T T C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 17354209 17354209 T C SNP FTH1P10 ENST00000401830 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FTH1P10 HGNC G3BP1 10146 genome.wustl.edu 37 5 151175052 151175052 + Nonsense_Mutation SNP A A T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 151175052 151175052 A T SNP G3BP1 ENST00000520177 human ensembl 70_37 +1 known nonsense c.364 p.K122* 1.000 pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC GAB1 2549 genome.wustl.edu 37 4 144380582 144380582 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 144380582 144380582 G C SNP GAB1 ENST00000262995 human ensembl 70_37 +1 known missense c.1720 p.E574Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC GAD1 2571 genome.wustl.edu 37 2 171702015 171702015 + Splice_Site SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 171702015 171702015 G A SNP GAD1 ENST00000358196 human ensembl 70_37 +1 known splice_site c.752-1 e7-1 1.000 - - - no_errors GAD1 HGNC GALNT11 63917 genome.wustl.edu 37 7 151802441 151802441 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 151802441 151802441 C T SNP GALNT11 ENST00000320311 human ensembl 70_37 +1 known missense c.698 p.A233V 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC GCC2 9648 genome.wustl.edu 37 2 109086905 109086905 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 109086905 109086905 G C SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known missense c.1120 p.D374H 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC GDPD4 220032 genome.wustl.edu 37 11 76956345 76956345 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 76956345 76956345 G C SNP GDPD4 ENST00000376217 human ensembl 70_37 -1 known missense c.1067 p.S356C 0.381 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC GFRA2 2675 genome.wustl.edu 37 8 21563461 21563461 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 21563461 21563461 G C SNP GFRA2 ENST00000517328 human ensembl 70_37 -1 known missense c.887 p.S296C 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC GGN 199720 genome.wustl.edu 37 19 38875118 38875118 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 38875118 38875118 G C SNP GGN ENST00000334928 human ensembl 70_37 -1 known missense c.1893 p.I631M 1.000 NULL NULL - no_errors GGN HGNC GLIS1 148979 genome.wustl.edu 37 1 53974848 53974848 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 53974848 53974848 G C SNP GLIS1 ENST00000312233 human ensembl 70_37 -1 known missense c.1650 p.F550L 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC GLRB 2743 genome.wustl.edu 37 4 158091757 158091757 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 158091757 158091757 G A SNP GLRB ENST00000264428 human ensembl 70_37 +1 known silent c.1371 p.K457 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC GOLPH3L 55204 genome.wustl.edu 37 1 150667193 150667193 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 150667193 150667193 G C SNP GOLPH3L ENST00000271732 human ensembl 70_37 -1 known missense c.122 p.S41C 1.000 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3L HGNC GPN1 11321 genome.wustl.edu 37 2 27870730 27870730 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 27870730 27870730 C T SNP GPN1 ENST00000264718 human ensembl 70_37 +1 known missense c.1001 p.S334F 1.000 NULL pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,smart_AAA+_ATPase - no_errors GPN1 HGNC GPR42 2866 genome.wustl.edu 37 19 35863134 35863134 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 35863134 35863134 G A SNP GPR42 ENST00000454971 human ensembl 70_37 +1 known silent c.873 p.L291 0.024 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors GPR42 HGNC GREB1 9687 genome.wustl.edu 37 2 11738894 11738894 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 11738894 11738894 G C SNP GREB1 ENST00000234142 human ensembl 70_37 +1 known missense c.2241 p.Q747H 0.084 NULL NULL - no_errors GREB1 HGNC GRID2 2895 genome.wustl.edu 37 4 93225802 93225802 + RNA SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 93225802 93225802 G C SNP GRID2 ENST00000505687 human ensembl 70_37 +1 known rna NULL NULL 0.556 - - - no_errors GRID2 HGNC GRIK5 2901 genome.wustl.edu 37 19 42506416 42506416 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42506416 42506416 G C SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known missense c.2797 p.L933V 0.001 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC GSK3A 2931 genome.wustl.edu 37 19 42736279 42736279 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42736279 42736279 G C SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known silent c.1308 p.L436 1.000 superfamily_Kinase-like_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 GSK3A HGNC GSK3A 2931 genome.wustl.edu 37 19 42736669 42736669 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42736669 42736669 G C SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known missense c.1264 p.L422V 0.997 superfamily_Kinase-like_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 GSK3A HGNC GSK3A 2931 genome.wustl.edu 37 19 42736791 42736791 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42736791 42736791 G C SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known missense c.1142 p.S381C 0.991 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_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 GSK3A HGNC GSK3A 2931 genome.wustl.edu 37 19 42736796 42736796 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42736796 42736796 G A SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known silent c.1137 p.L379 0.999 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_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 GSK3A HGNC GSK3A 2931 genome.wustl.edu 37 19 42736812 42736812 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42736812 42736812 G A SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known missense c.1121 p.P374L 0.961 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_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 GSK3A HGNC GTF2F2 2963 genome.wustl.edu 37 13 45841511 45841511 + Silent SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 45841511 45841511 G T SNP GTF2F2 ENST00000340473 human ensembl 70_37 +1 known silent c.630 p.V210 1.000 pfam_TFIIF_beta,pirsf_TFIIF-beta_subgr pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr - no_errors GTF2F2 HGNC GUCY1B3 2983 genome.wustl.edu 37 4 156711018 156711018 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 156711018 156711018 C T SNP GUCY1B3 ENST00000264424 human ensembl 70_37 +1 known silent c.450 p.I150 0.992 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC GUCY2F 2986 genome.wustl.edu 37 X 108718759 108718759 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 108718759 108718759 G C SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known missense c.407 p.S136W 0.037 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC H19 283120 genome.wustl.edu 37 11 2016562 2016562 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 2016562 2016562 C T SNP H19 ENST00000411754 human ensembl 70_37 -1 known rna NULL NULL 0.041 - - - no_errors H19 HGNC HABP4 22927 genome.wustl.edu 37 9 99250501 99250501 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 99250501 99250501 G A SNP HABP4 ENST00000375249 human ensembl 70_37 +1 known missense c.1130 p.G377E 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC HCRTR2 3062 genome.wustl.edu 37 6 55142241 55142241 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 55142241 55142241 C G SNP HCRTR2 ENST00000370862 human ensembl 70_37 +1 known missense c.826 p.R276G 0.799 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC HERC2P3 283755 genome.wustl.edu 37 15 20649647 20649647 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 20649647 20649647 C T SNP HERC2P3 ENST00000426501 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC HFM1 164045 genome.wustl.edu 37 1 91859929 91859929 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 91859929 91859929 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.215 p.S72L 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HIPK2 28996 genome.wustl.edu 37 7 139257806 139257806 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 139257806 139257806 G A SNP HIPK2 ENST00000406875 human ensembl 70_37 -1 known missense c.3464 p.S1155L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK2 HGNC HIST1H1E 3008 genome.wustl.edu 37 6 26156664 26156664 + Nonsense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 26156664 26156664 G T SNP HIST1H1E ENST00000304218 human ensembl 70_37 +1 known nonsense c.46 p.E16* 0.736 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC HIST1H2BH 8345 genome.wustl.edu 37 6 26251947 26251947 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 26251947 26251947 G C SNP HIST1H2BH ENST00000356350 human ensembl 70_37 +1 known missense c.69 p.Q23H 0.998 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC HIST1H2BH 8345 genome.wustl.edu 37 6 26252209 26252209 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 26252209 26252209 G A SNP HIST1H2BH ENST00000356350 human ensembl 70_37 +1 known missense c.331 p.A111T 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC HLA-DQA1 3117 genome.wustl.edu 37 6 32609786 32609786 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 32609786 32609786 G A SNP HLA-DQA1 ENST00000343139 human ensembl 70_37 +1 known silent c.369 p.V123 0.587 pfam_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA1 HGNC HMSD 284293 genome.wustl.edu 37 18 61627399 61627399 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 18 61627399 61627399 C T SNP HMSD ENST00000526932 human ensembl 70_37 +1 known nonsense c.127 p.Q43* 0.972 NULL NULL - no_errors HMSD HGNC HOXD4 3233 genome.wustl.edu 37 2 177016536 177016536 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 177016536 177016536 G C SNP HOXD4 ENST00000306324 human ensembl 70_37 +1 known missense c.175 p.E59Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC HSF5 124535 genome.wustl.edu 37 17 56565423 56565423 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 56565423 56565423 G A SNP HSF5 ENST00000323777 human ensembl 70_37 -1 known silent c.213 p.L71 0.986 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC HTR7 3363 genome.wustl.edu 37 10 92508659 92508659 + Nonsense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 92508659 92508659 G C SNP HTR7 ENST00000336152 human ensembl 70_37 -1 known nonsense c.1232 p.S411* 1.000 prints_5HT_7_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC IARS2 55699 genome.wustl.edu 37 1 220275594 220275594 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 220275594 220275594 G C SNP IARS2 ENST00000302637 human ensembl 70_37 +1 known missense c.674 p.R225T 0.979 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC IGHMBP2 3508 genome.wustl.edu 37 11 68701260 68701260 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 68701260 68701260 C T SNP IGHMBP2 ENST00000541229 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors IGHMBP2 HGNC IL12A 3592 genome.wustl.edu 37 3 159711269 159711269 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 159711269 159711269 C G SNP IL12A ENST00000305579 human ensembl 70_37 +1 known missense c.410 p.S137C 0.430 pfam_IL12,superfamily_4_helix_cytokine-like_core pfam_IL12,superfamily_4_helix_cytokine-like_core - no_errors IL12A HGNC INHA 3623 genome.wustl.edu 37 2 220437117 220437117 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 220437117 220437117 C T SNP INHA ENST00000243786 human ensembl 70_37 +1 known silent c.21 p.L7 0.066 pirsf_Inhibin_asu_subgr pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC INPPL1 3636 genome.wustl.edu 37 11 71944780 71944780 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 71944780 71944780 C T SNP INPPL1 ENST00000298229 human ensembl 70_37 +1 known missense c.2204 p.S735F 1.000 smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC INTS8 55656 genome.wustl.edu 37 8 95885647 95885647 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 95885647 95885647 G A SNP INTS8 ENST00000523731 human ensembl 70_37 +1 known missense c.2579 p.G860E 1.000 NULL NULL - no_errors INTS8 HGNC ITPR3 3710 genome.wustl.edu 37 6 33656045 33656045 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 33656045 33656045 G C SNP ITPR3 ENST00000374316 human ensembl 70_37 +1 known missense c.6405 p.Q2135H 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC KANK3 256949 genome.wustl.edu 37 19 8397920 8397920 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 8397920 8397920 G A SNP KANK3 ENST00000593649 human ensembl 70_37 -1 known silent c.1914 p.I638 0.956 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC KAT5 10524 genome.wustl.edu 37 11 65481258 65481258 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 65481258 65481258 G A SNP KAT5 ENST00000341318 human ensembl 70_37 +1 known missense c.629 p.R210H 1.000 NULL pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC KCNA5 3741 genome.wustl.edu 37 12 5154962 5154962 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 5154962 5154962 G C SNP KCNA5 ENST00000252321 human ensembl 70_37 +1 known missense c.1649 p.R550T 0.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC KCNJ2 3759 genome.wustl.edu 37 17 68172058 68172058 + Frame_Shift_Del DEL A A - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 68172058 68172058 A - DEL KCNJ2 ENST00000243457 human ensembl 70_37 +1 known frame_shift_del c.878 p.I294fs 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC KCNV2 169522 genome.wustl.edu 37 9 2718192 2718192 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 2718192 2718192 C T SNP KCNV2 ENST00000382082 human ensembl 70_37 +1 known silent c.453 p.F151 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC KDM4C 23081 genome.wustl.edu 37 9 7174698 7174698 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 7174698 7174698 C G SNP KDM4C ENST00000381309 human ensembl 70_37 +1 known missense c.3140 p.S1047C 1.000 superfamily_Chorismate_mutase_type_II pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC KDM5A 5927 genome.wustl.edu 37 12 416238 416238 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 416238 416238 G A SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known silent c.3948 p.F1316 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC KIAA0430 9665 genome.wustl.edu 37 16 15704917 15704917 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 15704917 15704917 C G SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.3666 p.L1222F 0.995 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC KIAA1524 57650 genome.wustl.edu 37 3 108279559 108279559 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 108279559 108279559 C T SNP KIAA1524 ENST00000295746 human ensembl 70_37 -1 known silent c.1764 p.L588 0.019 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC KIAA1549 57670 genome.wustl.edu 37 7 138524885 138524885 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 138524885 138524885 C G SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known missense c.5591 p.R1864T 0.994 NULL NULL - no_errors KIAA1549 HGNC KIAA1731 85459 genome.wustl.edu 37 11 93432930 93432930 + Nonsense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 93432930 93432930 G T SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known nonsense c.4852 p.E1618* 0.011 NULL NULL - no_errors KIAA1731 HGNC KIF26B 55083 genome.wustl.edu 37 1 245766083 245766083 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 245766083 245766083 C T SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known nonsense c.1555 p.Q519* 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KLHL42 57542 genome.wustl.edu 37 12 27950964 27950964 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 27950964 27950964 G A SNP KLHDC5 ENST00000381271 human ensembl 70_37 +1 known silent c.1383 p.S461 0.973 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHDC5 HGNC KRT18 3875 genome.wustl.edu 37 12 53344643 53344643 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 53344643 53344643 G C SNP KRT18 ENST00000388835 human ensembl 70_37 +1 known missense c.610 p.E204Q 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT18 HGNC KRT18 3875 genome.wustl.edu 37 12 53344685 53344685 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 53344685 53344685 G A SNP KRT18 ENST00000388835 human ensembl 70_37 +1 known missense c.652 p.E218K 0.996 pfam_F pfam_F,prints_Keratin_I - no_errors KRT18 HGNC KRT34 3885 genome.wustl.edu 37 17 39538343 39538343 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 39538343 39538343 G A SNP KRT34 ENST00000394001 human ensembl 70_37 -1 known silent c.282 p.F94 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC KRTAP10-9 386676 genome.wustl.edu 37 21 46047689 46047689 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 21 46047689 46047689 G A SNP KRTAP10-9 ENST00000397911 human ensembl 70_37 +1 known missense c.601 p.V201I 0.000 NULL NULL - no_errors KRTAP10-9 HGNC L1TD1 54596 genome.wustl.edu 37 1 62672545 62672545 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 62672545 62672545 G C SNP L1TD1 ENST00000498273 human ensembl 70_37 +1 known missense c.245 p.G82A 0.001 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC LATS2 26524 genome.wustl.edu 37 13 21619910 21619910 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 21619910 21619910 G A SNP LATS2 ENST00000382592 human ensembl 70_37 -1 known missense c.256 p.P86S 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS2 HGNC LCE3C 353144 genome.wustl.edu 37 1 152573352 152573352 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 152573352 152573352 G C SNP LCE3C ENST00000333881 human ensembl 70_37 +1 known missense c.145 p.E49Q 0.927 NULL NULL - no_errors LCE3C HGNC LEPREL1 55214 genome.wustl.edu 37 3 189713147 189713147 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 189713147 189713147 C G SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known missense c.565 p.E189Q 0.971 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC LGALS8 3964 genome.wustl.edu 37 1 236703888 236703888 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 236703888 236703888 C G SNP LGALS8 ENST00000352231 human ensembl 70_37 +1 known missense c.370 p.L124V 0.724 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS8 HGNC LINC00086 399668 genome.wustl.edu 37 X 134556133 134556133 + RNA SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 134556133 134556133 C G SNP LINC00086 ENST00000417443 human ensembl 70_37 +1 known rna NULL NULL 0.995 - - - no_errors LINC00086 HGNC LOC100289580 100289580 genome.wustl.edu 37 16 88803470 88803470 + RNA SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 88803470 88803470 C G SNP LOC100289580 ENST00000567968 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1142A6.2 Clone_based_vega_gene LOC101060495 101060495 genome.wustl.edu 37 11 134704 134704 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 134704 134704 G A SNP LOC101060495 ENST00000527683 human ensembl 70_37 -1 known rna NULL NULL 0.141 - - - no_errors RP11-304M2.2 Clone_based_vega_gene LOC101060596 101060596 genome.wustl.edu 37 16 21531526 21531526 + RNA SNP T T C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 21531526 21531526 T C SNP LOC101060596 ENST00000522841 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2547E10.2 Clone_based_vega_gene LOC220729 220729 genome.wustl.edu 37 3 197350172 197350172 + RNA SNP T T C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 197350172 197350172 T C SNP LOC220729 ENST00000414207 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors AC024560.3 Clone_based_vega_gene LPHN3 23284 genome.wustl.edu 37 4 62903458 62903458 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 62903458 62903458 G A SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.3574 p.E1192K 1.000 prints_GPCR_2_latrophilin pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC LPIN1 23175 genome.wustl.edu 37 2 11913826 11913826 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 11913826 11913826 C T SNP LPIN1 ENST00000449576 human ensembl 70_37 +1 known missense c.824 p.S275L 0.990 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC LPL 4023 genome.wustl.edu 37 8 19816872 19816872 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 19816872 19816872 G C SNP LPL ENST00000311322 human ensembl 70_37 +1 known missense c.1120 p.E374Q 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,tigrfam_Lipo_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase - no_errors LPL HGNC LRRC66 339977 genome.wustl.edu 37 4 52861485 52861485 + Nonsense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 52861485 52861485 G C SNP LRRC66 ENST00000343457 human ensembl 70_37 -1 known nonsense c.1703 p.S568* 0.002 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC LRRFIP1 9208 genome.wustl.edu 37 2 238680788 238680788 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 238680788 238680788 C G SNP LRRFIP1 ENST00000308482 human ensembl 70_37 +1 putative missense c.1574 p.S525C 0.056 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin - no_errors LRRFIP1 HGNC MAGEB3 4114 genome.wustl.edu 37 X 30254899 30254899 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 30254899 30254899 G A SNP MAGEB3 ENST00000361644 human ensembl 70_37 +1 known missense c.858 p.M286I 0.912 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC MAGEC3 139081 genome.wustl.edu 37 X 140967211 140967211 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 140967211 140967211 C T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known missense c.509 p.A170V 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MAGI2 9863 genome.wustl.edu 37 7 77789588 77789588 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 77789588 77789588 C G SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known missense c.2599 p.E867Q 1.000 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 MAGI2 HGNC MALAT1 378938 genome.wustl.edu 37 11 65271870 65271870 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 65271870 65271870 G A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.628 - - - no_errors MALAT1 HGNC MAN2C1 4123 genome.wustl.edu 37 15 75648960 75648960 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 75648960 75648960 C T SNP MAN2C1 ENST00000267978 human ensembl 70_37 -1 known silent c.2724 p.L908 0.982 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC MAST1 22983 genome.wustl.edu 37 19 12954365 12954365 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 12954365 12954365 C G SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.271 p.L91V 0.998 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC MCF2 4168 genome.wustl.edu 37 X 138698554 138698554 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 138698554 138698554 G A SNP MCF2 ENST00000370578 human ensembl 70_37 -1 known nonsense c.1513 p.Q505* 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC MCM3AP-AS1 114044 genome.wustl.edu 37 21 47662235 47662235 + RNA DEL T T - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 21 47662235 47662235 T - DEL MCM3AP-AS1 ENST00000421927 human ensembl 70_37 +1 known rna NULL NULL 0.165 - - - no_errors MCM3AP-AS1 HGNC MCM5 4174 genome.wustl.edu 37 22 35804446 35804446 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 35804446 35804446 C T SNP MCM5 ENST00000216122 human ensembl 70_37 +1 known silent c.642 p.I214 1.000 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC MCMDC2 157777 genome.wustl.edu 37 8 67796113 67796113 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 67796113 67796113 C T SNP MCMDC2 ENST00000422365 human ensembl 70_37 +1 known silent c.957 p.Y319 1.000 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC MDN1 23195 genome.wustl.edu 37 6 90383177 90383177 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 90383177 90383177 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.13252 p.D4418H 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MED23 9439 genome.wustl.edu 37 6 131917763 131917763 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 131917763 131917763 G C SNP MED23 ENST00000368058 human ensembl 70_37 -1 known silent c.2691 p.L897 0.989 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC MEN1 4221 genome.wustl.edu 37 11 64577150 64577150 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 64577150 64577150 G A SNP MEN1 ENST00000337652 human ensembl 70_37 -1 known silent c.432 p.F144 1.000 pfam_Menin pfam_Menin - no_errors MEN1 HGNC MEOX1 4222 genome.wustl.edu 37 17 41738509 41738509 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 41738509 41738509 C T SNP MEOX1 ENST00000318579 human ensembl 70_37 -1 known missense c.394 p.D132N 0.999 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MEOX1 HGNC MLLT3 4300 genome.wustl.edu 37 9 20346377 20346378 + RNA INS - - A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 20346377 20346378 - A INS MLLT3 ENST00000469261 human ensembl 70_37 -1 known rna NULL NULL 1.000:0.966 - - - no_errors MLLT3 HGNC MLLT4 4301 genome.wustl.edu 37 6 168273011 168273011 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 168273011 168273011 C T SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known nonsense c.532 p.R178* 0.796 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC MLLT6 4302 genome.wustl.edu 37 17 36883387 36883387 + RNA DEL T T - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 36883387 36883387 T - DEL MLLT6 ENST00000582830 human ensembl 70_37 +1 putative rna NULL NULL 0.276 - - - no_errors MLLT6 HGNC MLPH 79083 genome.wustl.edu 37 2 238419253 238419253 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 238419253 238419253 G C SNP MLPH ENST00000264605 human ensembl 70_37 +1 known missense c.147 p.K49N 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC MOAP1 64112 genome.wustl.edu 37 14 93649864 93649864 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 93649864 93649864 C T SNP MOAP1 ENST00000298894 human ensembl 70_37 -1 known missense c.724 p.G242R 0.988 NULL NULL - no_errors MOAP1 HGNC MRPL2 51069 genome.wustl.edu 37 6 43027092 43027092 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 43027092 43027092 G A SNP MRPL2 ENST00000388752 human ensembl 70_37 -1 known silent c.28 p.L10 0.953 NULL pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like - no_errors MRPL2 HGNC MRPL34 64981 genome.wustl.edu 37 19 17417161 17417161 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 17417161 17417161 C T SNP MRPL34 ENST00000252602 human ensembl 70_37 +1 known silent c.252 p.L84 0.670 pfam_Ribosomal_L34,tigrfam_Ribosomal_L34 pfam_Ribosomal_L34,tigrfam_Ribosomal_L34 - no_errors MRPL34 HGNC MRPL9 65005 genome.wustl.edu 37 1 151734851 151734851 + Splice_Site SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 151734851 151734851 C T SNP MRPL9 ENST00000368830 human ensembl 70_37 -1 known splice_site c.435+1 e3+1 1.000 - - - no_errors MRPL9 HGNC MRTO4 51154 genome.wustl.edu 37 1 19583621 19583621 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 19583621 19583621 C T SNP MRTO4 ENST00000330263 human ensembl 70_37 +1 known silent c.255 p.Y85 1.000 pfam_Ribosomal_L10/acidic_P0 pfam_Ribosomal_L10/acidic_P0 - no_errors MRTO4 HGNC MSANTD2 79684 genome.wustl.edu 37 11 124637152 124637152 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 124637152 124637152 C T SNP MSANTD2 ENST00000374979 human ensembl 70_37 -1 known missense c.1600 p.E534K 1.000 NULL NULL - no_errors MSANTD2 HGNC MTHFD1L 25902 genome.wustl.edu 37 6 151286115 151286115 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 151286115 151286115 G A SNP MTHFD1L ENST00000367321 human ensembl 70_37 +1 known missense c.1955 p.G652D 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC MTUS2 23281 genome.wustl.edu 37 13 30071399 30071399 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 30071399 30071399 C T SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known nonsense c.3634 p.Q1212* 1.000 NULL NULL - no_errors MTUS2 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77817203 77817203 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 77817203 77817203 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.2620 p.E874K 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77817206 77817206 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 77817206 77817206 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.2617 p.E873K 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC NACAD 23148 genome.wustl.edu 37 7 45124667 45124667 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 45124667 45124667 G A SNP NACAD ENST00000490531 human ensembl 70_37 -1 known missense c.1112 p.T371M 0.980 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC NBEA 26960 genome.wustl.edu 37 13 35622736 35622736 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 35622736 35622736 C T SNP NBEA ENST00000310336 human ensembl 70_37 +1 known nonsense c.760 p.Q254* 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NBEA 26960 genome.wustl.edu 37 13 35751232 35751232 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 35751232 35751232 C T SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.4654 p.R1552W 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NBEAL1 65065 genome.wustl.edu 37 2 204013810 204013810 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 204013810 204013810 C G SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.5314 p.L1772V 0.873 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NDUFS1 4719 genome.wustl.edu 37 2 207017199 207017199 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 207017199 207017199 C T SNP NDUFS1 ENST00000455934 human ensembl 70_37 -1 known missense c.139 p.E47K 1.000 superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC NEK4 6787 genome.wustl.edu 37 3 52799977 52799977 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 52799977 52799977 C T SNP NEK4 ENST00000233027 human ensembl 70_37 -1 known missense c.592 p.E198K 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,prints_Ser-Thr/Tyr_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC NKX2-2 4821 genome.wustl.edu 37 20 21492756 21492756 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 21492756 21492756 G C SNP NKX2-2 ENST00000377142 human ensembl 70_37 -1 known silent c.627 p.V209 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC NLRC3 197358 genome.wustl.edu 37 16 3598136 3598136 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 3598136 3598136 C T SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known missense c.2908 p.D970N 0.904 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC NLRP8 126205 genome.wustl.edu 37 19 56487502 56487502 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 56487502 56487502 G A SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known silent c.2709 p.L903 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC NOMO2 283820 genome.wustl.edu 37 16 18532165 18532165 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 18532165 18532165 C T SNP NOMO2 ENST00000381474 human ensembl 70_37 -1 known missense c.2195 p.R732K 0.033 NULL pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC NOMO2 283820 genome.wustl.edu 37 16 18532172 18532172 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 18532172 18532172 C T SNP NOMO2 ENST00000381474 human ensembl 70_37 -1 known missense c.2188 p.E730K 0.751 NULL pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC NR3C1 2908 genome.wustl.edu 37 5 142779831 142779831 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 142779831 142779831 C G SNP NR3C1 ENST00000231509 human ensembl 70_37 -1 known missense c.574 p.D192H 1.000 pfam_Glcrtcd_rcpt pfam_Glcrtcd_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_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC NT5C 30833 genome.wustl.edu 37 17 73126733 73126733 + Splice_Site SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 73126733 73126733 C T SNP NT5C ENST00000582170 human ensembl 70_37 -1 putative splice_site c.452-1 e5-1 0.006 - - - no_errors NT5C HGNC NUP85 79902 genome.wustl.edu 37 17 73201869 73201869 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 73201869 73201869 G A SNP NUP85 ENST00000245544 human ensembl 70_37 +1 known missense c.13 p.D5N 0.997 NULL pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC OAZ1 4946 genome.wustl.edu 37 19 2271912 2271912 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 2271912 2271912 C G SNP OAZ1 ENST00000322297 human ensembl 70_37 +1 known missense c.420 p.I140M 0.978 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ1 HGNC OGFOD1 55239 genome.wustl.edu 37 16 56500113 56500113 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 56500113 56500113 C T SNP OGFOD1 ENST00000566157 human ensembl 70_37 +1 known silent c.498 p.F166 1.000 smart_Pro_4_hyd_alph pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC OGT 8473 genome.wustl.edu 37 X 70787861 70787861 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 70787861 70787861 G C SNP OGT ENST00000373719 human ensembl 70_37 +1 known missense c.2861 p.R954P 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC OPN1SW 611 genome.wustl.edu 37 7 128415649 128415649 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 128415649 128415649 G A SNP OPN1SW ENST00000249389 human ensembl 70_37 -1 known missense c.196 p.R66W 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin 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 OR1J2 26740 genome.wustl.edu 37 9 125273356 125273356 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 125273356 125273356 C G SNP OR1J2 ENST00000335302 human ensembl 70_37 +1 known missense c.276 p.I92M 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC OR4N4 283694 genome.wustl.edu 37 15 22383199 22383199 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 22383199 22383199 C T SNP OR4N4 ENST00000328795 human ensembl 70_37 +1 known missense c.727 p.R243C 0.206 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC P2RX2 22953 genome.wustl.edu 37 12 133196044 133196044 + Nonsense_Mutation SNP A A T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 133196044 133196044 A T SNP P2RX2 ENST00000343948 human ensembl 70_37 +1 known nonsense c.193 p.K65* 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC PAK4 10298 genome.wustl.edu 37 19 39663791 39663791 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 39663791 39663791 C T SNP PAK4 ENST00000358301 human ensembl 70_37 +1 known silent c.438 p.G146 0.021 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK4 HGNC PARP14 54625 genome.wustl.edu 37 3 122418794 122418794 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 122418794 122418794 C T SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known nonsense c.1393 p.Q465* 0.108 NULL pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC PCDHA3 56145 genome.wustl.edu 37 5 140183169 140183169 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 140183169 140183169 C T SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known missense c.2387 p.S796L 0.033 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC PCF11 51585 genome.wustl.edu 37 11 82877695 82877695 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 82877695 82877695 G A SNP PCF11 ENST00000298281 human ensembl 70_37 +1 known missense c.1756 p.E586K 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC PCIF1 63935 genome.wustl.edu 37 20 44571761 44571761 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 44571761 44571761 C G SNP PCIF1 ENST00000372409 human ensembl 70_37 +1 known missense c.699 p.F233L 1.000 NULL pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PCIF1 HGNC PCYOX1L 78991 genome.wustl.edu 37 5 148746985 148746985 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 148746985 148746985 G T SNP PCYOX1L ENST00000274569 human ensembl 70_37 +1 known missense c.745 p.V249F 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC PDE4B 5142 genome.wustl.edu 37 1 66723177 66723177 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 66723177 66723177 C T SNP PDE4B ENST00000371048 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PDE4B HGNC PDP1 54704 genome.wustl.edu 37 8 94935385 94935385 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 94935385 94935385 G C SNP PDP1 ENST00000396200 human ensembl 70_37 +1 known missense c.1173 p.K391N 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PDP1 HGNC PGK1 5230 genome.wustl.edu 37 X 77378713 77378713 + Nonsense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 77378713 77378713 G T SNP PGK1 ENST00000373316 human ensembl 70_37 +1 known nonsense c.778 p.E260* 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC PHF8 23133 genome.wustl.edu 37 X 54022194 54022194 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 54022194 54022194 C T SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.1363 p.E455K 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC PIK3R3 8503 genome.wustl.edu 37 1 46546413 46546413 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 46546413 46546413 G C SNP PIK3R3 ENST00000540385 human ensembl 70_37 -1 known missense c.254 p.P85R 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC PKD1L3 342372 genome.wustl.edu 37 16 72017957 72017957 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 72017957 72017957 G A SNP PKD1L3 ENST00000335106 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PKD1L3 HGNC PLA2G4F 255189 genome.wustl.edu 37 15 42446400 42446400 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 42446400 42446400 G A SNP PLA2G4F ENST00000397272 human ensembl 70_37 -1 known missense c.340 p.L114F 0.975 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC PLCB3 5331 genome.wustl.edu 37 11 64027557 64027557 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 64027557 64027557 G C SNP PLCB3 ENST00000279230 human ensembl 70_37 +1 known missense c.1582 p.E528Q 0.977 pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC PLCB3 5331 genome.wustl.edu 37 11 64027604 64027604 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 64027604 64027604 G C SNP PLCB3 ENST00000279230 human ensembl 70_37 +1 known silent c.1629 p.L543 0.000 pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC PLEC 5339 genome.wustl.edu 37 8 144996801 144996801 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 144996801 144996801 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.7707 p.Q2569 0.980 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEKHO1 51177 genome.wustl.edu 37 1 150128266 150128266 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 150128266 150128266 G C SNP PLEKHO1 ENST00000369124 human ensembl 70_37 +1 known missense c.184 p.D62H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC PLXNB1 5364 genome.wustl.edu 37 3 48461614 48461614 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 48461614 48461614 G C SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known missense c.2081 p.P694R 0.976 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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 PLXNB1 HGNC PLXNB2 23654 genome.wustl.edu 37 22 50719908 50719908 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 50719908 50719908 C T SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known silent c.3543 p.E1181 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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 PLXNB2 HGNC PLXNB2 23654 genome.wustl.edu 37 22 50719913 50719913 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 50719913 50719913 G A SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known missense c.3538 p.R1180C 0.213 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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 PLXNB2 HGNC PMFBP1 83449 genome.wustl.edu 37 16 72154011 72154011 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 72154011 72154011 G A SNP PMFBP1 ENST00000355636 human ensembl 70_37 -1 known missense c.2371 p.R791C 0.002 NULL NULL - no_errors PMFBP1 HGNC POM121L9P 29774 genome.wustl.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 24659813 24659813 C T SNP POM121L9P ENST00000414583 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors POM121L9P HGNC PPM1B 5495 genome.wustl.edu 37 2 44396075 44396075 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 44396075 44396075 C T SNP PPM1B ENST00000378540 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PPM1B HGNC PPP1R3F 89801 genome.wustl.edu 37 X 49143300 49143300 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 49143300 49143300 C G SNP PPP1R3F ENST00000055335 human ensembl 70_37 +1 known silent c.2148 p.L716 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC PRCP 5547 genome.wustl.edu 37 11 82564297 82564297 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 82564297 82564297 C T SNP PRCP ENST00000393399 human ensembl 70_37 -1 known silent c.396 p.E132 1.000 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRCP HGNC PRDM2 7799 genome.wustl.edu 37 1 14108373 14108373 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 14108373 14108373 G C SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known missense c.4083 p.K1361N 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC PRDM9 56979 genome.wustl.edu 37 5 23524509 23524509 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 23524509 23524509 C T SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known silent c.1017 p.I339 1.000 pfscan_SET_dom pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC PRPF6 24148 genome.wustl.edu 37 20 62654202 62654202 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 62654202 62654202 C T SNP PRPF6 ENST00000266079 human ensembl 70_37 +1 known silent c.1740 p.A580 0.003 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC PSG11 5680 genome.wustl.edu 37 19 43519492 43519492 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 43519492 43519492 G A SNP PSG11 ENST00000320078 human ensembl 70_37 -1 known missense c.740 p.S247L 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG11 HGNC PTBP3 9991 genome.wustl.edu 37 9 115013283 115013283 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 115013283 115013283 C G SNP PTBP3 ENST00000458258 human ensembl 70_37 -1 known missense c.830 p.R277T 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC PTCHD4 442213 genome.wustl.edu 37 6 47846225 47846225 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 47846225 47846225 G C SNP PTCHD4 ENST00000339488 human ensembl 70_37 -1 known missense c.2355 p.F785L 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC PTGDR2 11251 genome.wustl.edu 37 11 60620887 60620887 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 60620887 60620887 G A SNP PTGDR2 ENST00000332539 human ensembl 70_37 -1 known silent c.309 p.F103 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt - no_errors PTGDR2 HGNC PTGES3 10728 genome.wustl.edu 37 12 57057908 57057908 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 57057908 57057908 G A SNP PTGES3 ENST00000537473 human ensembl 70_37 -1 known rna NULL NULL 0.127 - - - no_errors PTGES3 HGNC PTPRC 5788 genome.wustl.edu 37 1 198700745 198700745 + Splice_Site SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 198700745 198700745 G C SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known splice_site c.1865-1 e17-1 1.000 - - - no_errors PTPRC HGNC PVRL2 5819 genome.wustl.edu 37 19 45375367 45375367 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 45375367 45375367 G A SNP PVRL2 ENST00000252483 human ensembl 70_37 +1 known missense c.736 p.E246K 0.000 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC PYGB 5834 genome.wustl.edu 37 20 25260930 25260930 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 25260930 25260930 C G SNP PYGB ENST00000216962 human ensembl 70_37 +1 known missense c.1121 p.A374G 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC RAB6A 5870 genome.wustl.edu 37 11 73431902 73431902 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 73431902 73431902 C G SNP RAB6A ENST00000310653 human ensembl 70_37 -1 known missense c.172 p.E58Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC RASD1 51655 genome.wustl.edu 37 17 17399274 17399274 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 17399274 17399274 G C SNP RASD1 ENST00000225688 human ensembl 70_37 -1 known silent c.222 p.L74 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD1 HGNC RASIP1 54922 genome.wustl.edu 37 19 49230681 49230681 + Missense_Mutation SNP T T A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 49230681 49230681 T A SNP RASIP1 ENST00000222145 human ensembl 70_37 -1 known missense c.1840 p.I614F 1.000 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC RAVER1 125950 genome.wustl.edu 37 19 10432289 10432289 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 10432289 10432289 G A SNP RAVER1 ENST00000293677 human ensembl 70_37 -1 known silent c.1230 p.P410 0.142 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC RBM39 9584 genome.wustl.edu 37 20 34330028 34330028 + RNA SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 34330028 34330028 G C SNP RBM39 ENST00000463098 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors RBM39 HGNC RBM42 79171 genome.wustl.edu 37 19 36128198 36128198 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 36128198 36128198 G A SNP RBM42 ENST00000262633 human ensembl 70_37 +1 known missense c.1274 p.G425D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC RBP5 83758 genome.wustl.edu 37 12 7277327 7277327 + Splice_Site SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 7277327 7277327 C G SNP RBP5 ENST00000266560 human ensembl 70_37 -1 known splice_site c.253-1 e3-1 1.000 - - - no_errors RBP5 HGNC RECQL5 9400 genome.wustl.edu 37 17 73624459 73624459 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 73624459 73624459 C T SNP RECQL5 ENST00000317905 human ensembl 70_37 -1 known missense c.2644 p.E882K 0.831 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC REST 5978 genome.wustl.edu 37 4 57797419 57797419 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 57797419 57797419 C G SNP REST ENST00000309042 human ensembl 70_37 +1 known missense c.2395 p.P799A 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC RETSAT 54884 genome.wustl.edu 37 2 85576669 85576669 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 85576669 85576669 C T SNP RETSAT ENST00000295802 human ensembl 70_37 -1 known missense c.835 p.A279T 0.251 pfam_FAD-dep_OxRdtase pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC RGPD4 285190 genome.wustl.edu 37 2 108489281 108489281 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 108489281 108489281 C A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.4821 p.N1607K 0.008 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC RHCG 51458 genome.wustl.edu 37 15 90016047 90016047 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 90016047 90016047 G T SNP RHCG ENST00000268122 human ensembl 70_37 -1 known missense c.1359 p.F453L 0.044 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCG HGNC RIMS1 22999 genome.wustl.edu 37 6 72975693 72975693 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 72975693 72975693 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known silent c.3339 p.R1113 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC RORC 6097 genome.wustl.edu 37 1 151785700 151785700 + RNA SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 151785700 151785700 C G SNP RORC ENST00000480719 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors RORC HGNC RP1 6101 genome.wustl.edu 37 8 55539114 55539114 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 55539114 55539114 G T SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.2672 p.R891M 0.080 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC RPS16 6217 genome.wustl.edu 37 19 39923928 39923928 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 39923928 39923928 C T SNP RPS16 ENST00000251453 human ensembl 70_37 -1 known silent c.426 p.Q142 1.000 pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold - no_errors RPS16 HGNC RRP1B 23076 genome.wustl.edu 37 21 45092192 45092192 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 21 45092192 45092192 G C SNP RRP1B ENST00000340648 human ensembl 70_37 +1 known missense c.217 p.E73Q 1.000 pfam_Nop52 pfam_Nop52 - no_errors RRP1B HGNC RUVBL2 10856 genome.wustl.edu 37 19 49510586 49510586 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 49510586 49510586 G A SNP RUVBL2 ENST00000595090 human ensembl 70_37 +1 known silent c.423 p.E141 1.000 pfam_TIP49_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC RXFP1 59350 genome.wustl.edu 37 4 159568311 159568311 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 159568311 159568311 G C SNP RXFP1 ENST00000307765 human ensembl 70_37 +1 known missense c.1714 p.E572Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP1 HGNC RYR2 6262 genome.wustl.edu 37 1 237756843 237756843 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 237756843 237756843 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.4337 p.S1446L 0.811 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR2 6262 genome.wustl.edu 37 1 237936946 237936946 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 237936946 237936946 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known nonsense c.11791 p.Q3931* 1.000 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR3 6263 genome.wustl.edu 37 15 34021064 34021064 + Nonsense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 34021064 34021064 C A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known nonsense c.7040 p.S2347* 0.868 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SAMD3 154075 genome.wustl.edu 37 6 130505720 130505720 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 130505720 130505720 C T SNP SAMD3 ENST00000368134 human ensembl 70_37 -1 known silent c.432 p.T144 0.176 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC SBF2 81846 genome.wustl.edu 37 11 9867227 9867227 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 9867227 9867227 G A SNP SBF2 ENST00000256190 human ensembl 70_37 -1 known nonsense c.2995 p.Q999* 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC SCN1B 6324 genome.wustl.edu 37 19 35530121 35530121 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 35530121 35530121 G C SNP SCN1B ENST00000262631 human ensembl 70_37 +1 known missense c.549 p.K183N 1.000 NULL pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC SCRN2 90507 genome.wustl.edu 37 17 45918151 45918151 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 45918151 45918151 G A SNP SCRN2 ENST00000290216 human ensembl 70_37 -1 known missense c.59 p.P20L 1.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC SCRN2 90507 genome.wustl.edu 37 17 45918160 45918160 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 45918160 45918160 G A SNP SCRN2 ENST00000290216 human ensembl 70_37 -1 known missense c.50 p.S17F 1.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC SEC16A 9919 genome.wustl.edu 37 9 139371076 139371076 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 139371076 139371076 G A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.992 p.S331F 0.002 NULL NULL - no_errors SEC16A HGNC SEC63 11231 genome.wustl.edu 37 6 108204293 108204293 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 108204293 108204293 C G SNP SEC63 ENST00000369002 human ensembl 70_37 -1 known missense c.1732 p.E578Q 1.000 superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors SEC63 HGNC SELK 58515 genome.wustl.edu 37 3 53920923 53920923 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 53920923 53920923 C T SNP SELK ENST00000541726 human ensembl 70_37 -1 known missense c.149 p.R50K 1.000 pfam_Se_SelK/SelG pfam_Se_SelK/SelG - no_errors SELK Uniprot_genename SEMA6C 10500 genome.wustl.edu 37 1 151108092 151108092 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 151108092 151108092 C T SNP SEMA6C ENST00000368913 human ensembl 70_37 -1 known missense c.1408 p.E470K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6C HGNC SENP2 59343 genome.wustl.edu 37 3 185329515 185329515 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 185329515 185329515 C G SNP SENP2 ENST00000296257 human ensembl 70_37 +1 known missense c.799 p.Q267E 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC SERPINB7 8710 genome.wustl.edu 37 18 61468247 61468247 + Splice_Site SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 18 61468247 61468247 G T SNP SERPINB7 ENST00000336429 human ensembl 70_37 +1 known splice_site c.744+1 e6+1 0.994 - - - no_errors SERPINB7 HGNC SEZ6L2 26470 genome.wustl.edu 37 16 29910335 29910335 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 29910335 29910335 C T SNP SEZ6L2 ENST00000308713 human ensembl 70_37 -1 known silent c.6 p.G2 1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC SH2D5 400745 genome.wustl.edu 37 1 21050664 21050664 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 21050664 21050664 C G SNP SH2D5 ENST00000444387 human ensembl 70_37 -1 known missense c.711 p.K237N 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2 - no_errors SH2D5 HGNC SLC10A3 8273 genome.wustl.edu 37 X 153716084 153716084 + Missense_Mutation SNP A A G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 153716084 153716084 A G SNP SLC10A3 ENST00000263512 human ensembl 70_37 -1 known missense c.1196 p.V399A 1.000 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC SLC14A2 8170 genome.wustl.edu 37 18 43223998 43223998 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 18 43223998 43223998 C G SNP SLC14A2 ENST00000255226 human ensembl 70_37 +1 known missense c.1224 p.I408M 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC SLC26A3 1811 genome.wustl.edu 37 7 107431506 107431506 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 107431506 107431506 G C SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known missense c.557 p.S186C 0.982 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC SLC26A3 1811 genome.wustl.edu 37 7 107431638 107431638 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 107431638 107431638 G A SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known missense c.425 p.S142L 0.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC SLC4A4 8671 genome.wustl.edu 37 4 72433560 72433560 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 72433560 72433560 G C SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known missense c.3235 p.E1079Q 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 SLC5A6 8884 genome.wustl.edu 37 2 27429780 27429780 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 27429780 27429780 G A SNP SLC5A6 ENST00000310574 human ensembl 70_37 -1 known nonsense c.424 p.R142* 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC SLC6A3 6531 genome.wustl.edu 37 5 1409223 1409223 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 1409223 1409223 G A SNP SLC6A3 ENST00000270349 human ensembl 70_37 -1 known silent c.1416 p.F472 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC SLIT3 6586 genome.wustl.edu 37 5 168098381 168098381 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 168098381 168098381 C T SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known missense c.3949 p.D1317N 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC SMAD3 4088 genome.wustl.edu 37 15 67457410 67457410 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 67457410 67457410 G C SNP SMAD3 ENST00000327367 human ensembl 70_37 +1 known missense c.384 p.Q128H 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC SMARCB1 6598 genome.wustl.edu 37 22 24129408 24129408 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 24129408 24129408 C T SNP SMARCB1 ENST00000263121 human ensembl 70_37 +1 known nonsense c.52 p.Q18* 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC SMOC2 64094 genome.wustl.edu 37 6 169051402 169051402 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 169051402 169051402 C G SNP SMOC2 ENST00000354536 human ensembl 70_37 +1 known missense c.982 p.L328V 0.382 pfam_SPARC/Testican_Ca-bd-dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC SNCAIP 9627 genome.wustl.edu 37 5 121786950 121786950 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 121786950 121786950 C T SNP SNCAIP ENST00000379533 human ensembl 70_37 +1 known missense c.2549 p.S850F 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC SNORD114-22 767600 genome.wustl.edu 37 14 101449326 101449326 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 101449326 101449326 G A SNP SNORD114-22 ENST00000365423 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SNORD114-22 HGNC SNX1 6642 genome.wustl.edu 37 15 64404874 64404874 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 64404874 64404874 C G SNP SNX1 ENST00000559844 human ensembl 70_37 +1 known missense c.262 p.L88V 1.000 pfam_Sorting_nexin_N pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC SNX13 23161 genome.wustl.edu 37 7 17979955 17979955 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 17979955 17979955 C T SNP SNX13 ENST00000471744 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNX13 HGNC SORL1 6653 genome.wustl.edu 37 11 121391423 121391423 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 121391423 121391423 C G SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known silent c.1269 p.V423 0.653 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC SOX15 6665 genome.wustl.edu 37 17 7492582 7492582 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 7492582 7492582 C T SNP SOX15 ENST00000250055 human ensembl 70_37 -1 known missense c.413 p.R138K 0.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX15 HGNC SOX6 55553 genome.wustl.edu 37 11 16119218 16119218 + Silent SNP T T C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 16119218 16119218 T C SNP SOX6 ENST00000352083 human ensembl 70_37 -1 known silent c.915 p.V305 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX6 HGNC SPATA31D1 389763 genome.wustl.edu 37 9 84607470 84607470 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 84607470 84607470 C T SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known silent c.2085 p.L695 0.007 NULL NULL - no_errors SPATA31D1 HGNC SPEF2 79925 genome.wustl.edu 37 5 35646907 35646907 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 35646907 35646907 G A SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.724 p.E242K 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131362259 131362259 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 131362259 131362259 G A SNP SPTAN1 ENST00000461855 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SPTAN1 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131362362 131362362 + Frame_Shift_Del DEL G G - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 131362362 131362362 G - DEL SPTAN1 ENST00000358161 human ensembl 70_37 +1 known frame_shift_del c.3547 p.E1183fs 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SPTBN1 6711 genome.wustl.edu 37 2 54864866 54864866 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 54864866 54864866 G C SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.3784 p.E1262Q 0.998 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC STRADA 92335 genome.wustl.edu 37 17 61800729 61800729 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 61800729 61800729 G A SNP STRADA ENST00000580039 human ensembl 70_37 -1 known rna NULL NULL 0.989 - - - no_errors STRADA HGNC STRN4 29888 genome.wustl.edu 37 19 47225314 47225314 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 47225314 47225314 G C SNP STRN4 ENST00000391910 human ensembl 70_37 -1 known missense c.2042 p.S681C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC STX11 8676 genome.wustl.edu 37 6 144507888 144507888 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 144507888 144507888 G C SNP STX11 ENST00000367568 human ensembl 70_37 +1 known missense c.124 p.E42Q 1.000 superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC STX5 6811 genome.wustl.edu 37 11 62592575 62592575 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 62592575 62592575 C G SNP STX5 ENST00000294179 human ensembl 70_37 -1 known missense c.612 p.Q204H 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX5 HGNC SUPV3L1 6832 genome.wustl.edu 37 10 70940132 70940132 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 70940132 70940132 C T SNP SUPV3L1 ENST00000359655 human ensembl 70_37 +1 known missense c.85 p.R29C 0.490 NULL pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152615141 152615141 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 152615141 152615141 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.17804 p.A5935D 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE3 161176 genome.wustl.edu 37 14 95898436 95898436 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 95898436 95898436 C T SNP SYNE3 ENST00000334258 human ensembl 70_37 -1 known missense c.2707 p.E903K 0.997 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC SYT10 341359 genome.wustl.edu 37 12 33579277 33579277 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 33579277 33579277 C G SNP SYT10 ENST00000228567 human ensembl 70_37 -1 known missense c.305 p.S102T 0.979 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC TCL1B 9623 genome.wustl.edu 37 14 96152883 96152883 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 96152883 96152883 G C SNP TCL1B ENST00000340722 human ensembl 70_37 +1 known missense c.79 p.E27Q 0.203 pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 - no_errors TCL1B HGNC TCTE1 202500 genome.wustl.edu 37 6 44250215 44250215 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 44250215 44250215 C G SNP TCTE1 ENST00000371505 human ensembl 70_37 -1 known missense c.928 p.E310Q 0.002 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC TENC1 23371 genome.wustl.edu 37 12 53451429 53451429 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 53451429 53451429 C G SNP TENC1 ENST00000314276 human ensembl 70_37 +1 known silent c.954 p.L318 0.365 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC THRAP3 9967 genome.wustl.edu 37 1 36762219 36762219 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 36762219 36762219 C T SNP THRAP3 ENST00000354618 human ensembl 70_37 +1 known silent c.2151 p.L717 0.739 NULL NULL - no_errors THRAP3 HGNC THSD7A 221981 genome.wustl.edu 37 7 11582675 11582675 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 11582675 11582675 G A SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.1523 p.P508L 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC THYN1 29087 genome.wustl.edu 37 11 134118790 134118790 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 134118790 134118790 G A SNP THYN1 ENST00000341541 human ensembl 70_37 -1 known missense c.544 p.H182Y 0.978 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC TJP1 7082 genome.wustl.edu 37 15 30012692 30012692 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 30012692 30012692 G A SNP TJP1 ENST00000346128 human ensembl 70_37 -1 known missense c.2633 p.S878F 1.000 prints_ZonOcculdens pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC TLK1 9874 genome.wustl.edu 37 2 171850400 171850400 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 171850400 171850400 C A SNP TLK1 ENST00000431350 human ensembl 70_37 -1 known missense c.2191 p.D731Y 1.000 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_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 TLK1 HGNC TLN1 7094 genome.wustl.edu 37 9 35717718 35717718 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 35717718 35717718 C G SNP TLN1 ENST00000314888 human ensembl 70_37 -1 known missense c.2061 p.K687N 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC TMEM108 66000 genome.wustl.edu 37 3 133099751 133099751 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 133099751 133099751 G A SNP TMEM108 ENST00000321871 human ensembl 70_37 +1 known missense c.1196 p.G399E 0.004 NULL NULL - no_errors TMEM108 HGNC TMEM150A 129303 genome.wustl.edu 37 2 85828196 85828196 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 85828196 85828196 C T SNP TMEM150A ENST00000334462 human ensembl 70_37 -1 known missense c.148 p.E50K 0.021 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150A HGNC TMEM165 55858 genome.wustl.edu 37 4 56277808 56277808 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 56277808 56277808 C T SNP TMEM165 ENST00000381334 human ensembl 70_37 +1 known missense c.235 p.H79Y 0.981 NULL pfam_UPF0016 - no_errors TMEM165 HGNC TMEM38B 55151 genome.wustl.edu 37 9 108510422 108510422 + Nonsense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 108510422 108510422 C G SNP TMEM38B ENST00000374692 human ensembl 70_37 +1 known nonsense c.611 p.S204* 0.998 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38B HGNC TMEM61 199964 genome.wustl.edu 37 1 55451823 55451823 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 55451823 55451823 C A SNP TMEM61 ENST00000371268 human ensembl 70_37 +1 known missense c.69 p.S23R 0.265 NULL NULL - no_errors TMEM61 HGNC TMEM66 51669 genome.wustl.edu 37 8 29924375 29924375 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 29924375 29924375 G A SNP TMEM66 ENST00000256255 human ensembl 70_37 -1 known nonsense c.760 p.Q254* 0.145 pfam_DUF1183_TMEM66 pfam_DUF1183_TMEM66 - no_errors TMEM66 HGNC TMEM92 162461 genome.wustl.edu 37 17 48355920 48355920 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 48355920 48355920 C G SNP TMEM92 ENST00000300433 human ensembl 70_37 +1 known silent c.99 p.A33 0.682 NULL NULL - no_errors TMEM92 HGNC TNF 7124 genome.wustl.edu 37 6 31544969 31544969 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 31544969 31544969 G A SNP TNF ENST00000449264 human ensembl 70_37 +1 known silent c.357 p.L119 0.060 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_alpha,prints_TNF_a/b/c pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_alpha,prints_TNF_a/b/c - no_errors TNF HGNC TNIP3 79931 genome.wustl.edu 37 4 122137568 122137568 + Splice_Site SNP A A C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 122137568 122137568 A C SNP TNIP3 ENST00000454328 human ensembl 70_37 -1 known splice_site c.1+2 e0+2 1.000 - - - no_errors TNIP3 HGNC TNRC18 84629 genome.wustl.edu 37 7 5399153 5399153 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 5399153 5399153 G A SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.4709 p.A1570V 0.997 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC TPBG 7162 genome.wustl.edu 37 6 83075876 83075876 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 83075876 83075876 C T SNP TPBG ENST00000369750 human ensembl 70_37 +1 known missense c.1198 p.H400Y 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors TPBG HGNC TRAPPC9 83696 genome.wustl.edu 37 8 141321456 141321456 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 141321456 141321456 G A SNP TRAPPC9 ENST00000389328 human ensembl 70_37 -1 known nonsense c.1807 p.Q603* 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC TRIM41 90933 genome.wustl.edu 37 5 180657818 180657818 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 180657818 180657818 G C SNP TRIM41 ENST00000315073 human ensembl 70_37 +1 known missense c.888 p.E296D 1.000 pfam_DUF3631 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC TRPM4 54795 genome.wustl.edu 37 19 49691917 49691917 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 49691917 49691917 C T SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known missense c.1763 p.S588L 0.639 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC TSC22D1 8848 genome.wustl.edu 37 13 45148542 45148542 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 45148542 45148542 G A SNP TSC22D1 ENST00000458659 human ensembl 70_37 -1 known nonsense c.1669 p.Q557* 0.997 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC TSNAXIP1 55815 genome.wustl.edu 37 16 67855080 67855080 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 67855080 67855080 C G SNP TSNAXIP1 ENST00000563363 human ensembl 70_37 +1 known missense c.226 p.P76A 1.000 NULL NULL - no_errors TSNAXIP1 HGNC TTC30A 92104 genome.wustl.edu 37 2 178482973 178482973 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 178482973 178482973 C G SNP TTC30A ENST00000355689 human ensembl 70_37 -1 known missense c.457 p.E153Q 0.988 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC TTI1 9675 genome.wustl.edu 37 20 36627619 36627619 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 36627619 36627619 C T SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known missense c.2764 p.A922T 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC TTLL5 23093 genome.wustl.edu 37 14 76420866 76420866 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 76420866 76420866 C T SNP TTLL5 ENST00000554972 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTLL5 HGNC TUBGCP6 85378 genome.wustl.edu 37 22 50659792 50659792 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 50659792 50659792 G A SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.2996 p.S999L 0.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC UBE3C 9690 genome.wustl.edu 37 7 157046683 157046683 + Silent SNP T T A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 157046683 157046683 T A SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known silent c.2730 p.P910 0.695 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC UBFD1 56061 genome.wustl.edu 37 16 23568552 23568552 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 23568552 23568552 C G SNP UBFD1 ENST00000219638 human ensembl 70_37 +1 known missense c.161 p.S54W 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC UBR5 51366 genome.wustl.edu 37 8 103358560 103358560 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 103358560 103358560 G C SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.640 p.L214V 1.000 pfam_E3_UbLigase_EDD_UBA pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC UHRF1 29128 genome.wustl.edu 37 19 4929293 4929293 + RNA SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 4929293 4929293 C A SNP UHRF1 ENST00000262952 human ensembl 70_37 +1 known rna NULL NULL 0.968 - - - no_errors UHRF1 HGNC URGCP 55665 genome.wustl.edu 37 7 43917456 43917456 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 43917456 43917456 G C SNP URGCP ENST00000453200 human ensembl 70_37 -1 known missense c.1606 p.R536G 0.027 NULL prints_GTP_binding_domain - no_errors URGCP HGNC UROC1 131669 genome.wustl.edu 37 3 126219628 126219628 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 126219628 126219628 C A SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known missense c.1055 p.G352V 0.997 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC USH2A 7399 genome.wustl.edu 37 1 215955461 215955461 + Nonsense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 215955461 215955461 C A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known nonsense c.10663 p.E3555* 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USP20 10868 genome.wustl.edu 37 9 132631176 132631176 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 132631176 132631176 C T SNP USP20 ENST00000315480 human ensembl 70_37 +1 known missense c.1171 p.R391C 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC USP4 7375 genome.wustl.edu 37 3 49372952 49372952 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 49372952 49372952 C T SNP USP4 ENST00000265560 human ensembl 70_37 -1 known missense c.179 p.G60D 1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC USP7 7874 genome.wustl.edu 37 16 9002295 9002295 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 9002295 9002295 C T SNP USP7 ENST00000344836 human ensembl 70_37 -1 known missense c.1174 p.G392S 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19 - no_errors USP7 HGNC UXT 8409 genome.wustl.edu 37 X 47516583 47516583 + Nonsense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 47516583 47516583 C A SNP UXT ENST00000335890 human ensembl 70_37 -1 known nonsense c.391 p.E131* 0.999 pfam_Prefoldin_subunit,superfamily_Prefoldin pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT - no_errors UXT HGNC UXT 8409 genome.wustl.edu 37 X 47516607 47516607 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 47516607 47516607 C G SNP UXT ENST00000335890 human ensembl 70_37 -1 known missense c.367 p.D123H 1.000 pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT - no_errors UXT HGNC VASP 7408 genome.wustl.edu 37 19 46026015 46026015 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 46026015 46026015 G A SNP VASP ENST00000245932 human ensembl 70_37 +1 known missense c.760 p.E254K 0.998 pirsf_Vasodilator_phosphoprotein pirsf_Vasodilator_phosphoprotein,pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors VASP HGNC VEZT 55591 genome.wustl.edu 37 12 95676223 95676223 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 95676223 95676223 G A SNP VEZT ENST00000436874 human ensembl 70_37 +1 known silent c.1131 p.V377 1.000 NULL NULL - no_errors VEZT HGNC VPS45 11311 genome.wustl.edu 37 1 150082514 150082514 + RNA DEL A A - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 150082514 150082514 A - DEL VPS45 ENST00000484306 human ensembl 70_37 +1 known rna NULL NULL 0.965 - - - no_errors VPS45 HGNC WDFY4 57705 genome.wustl.edu 37 10 49939277 49939277 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 49939277 49939277 C G SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.1252 p.R418G 0.105 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC WDR72 256764 genome.wustl.edu 37 15 54003550 54003550 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 54003550 54003550 G A SNP WDR72 ENST00000360509 human ensembl 70_37 -1 known silent c.840 p.I280 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC WDR81 124997 genome.wustl.edu 37 17 1634415 1634415 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 1634415 1634415 G A SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known silent c.4020 p.A1340 0.045 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC WSCD1 23302 genome.wustl.edu 37 17 6014195 6014195 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 6014195 6014195 G A SNP WSCD1 ENST00000317744 human ensembl 70_37 +1 known missense c.1114 p.E372K 1.000 NULL pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC XCR1 2829 genome.wustl.edu 37 3 46063416 46063416 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 46063416 46063416 C G SNP XCR1 ENST00000309285 human ensembl 70_37 -1 known missense c.24 p.E8D 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC XPNPEP3 63929 genome.wustl.edu 37 22 41318403 41318403 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 41318403 41318403 C G SNP XPNPEP3 ENST00000357137 human ensembl 70_37 +1 known silent c.1122 p.L374 0.965 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC XPO7 23039 genome.wustl.edu 37 8 21824455 21824455 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 21824455 21824455 G C SNP XPO7 ENST00000434536 human ensembl 70_37 +1 known missense c.106 p.E36Q 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ZBTB22 9278 genome.wustl.edu 37 6 33284082 33284082 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 33284082 33284082 G A SNP ZBTB22 ENST00000418724 human ensembl 70_37 -1 known silent c.612 p.S204 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ZC3H13 23091 genome.wustl.edu 37 13 46539507 46539507 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 46539507 46539507 C T SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.4379 p.G1460E 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ZDHHC20 253832 genome.wustl.edu 37 13 21950739 21950739 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 21950739 21950739 G A SNP ZDHHC20 ENST00000464055 human ensembl 70_37 -1 known rna NULL NULL 0.888 - - - no_errors ZDHHC20 HGNC ZFP36L1 677 genome.wustl.edu 37 14 69259641 69259641 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 69259641 69259641 G A SNP ZFP36L1 ENST00000336440 human ensembl 70_37 -1 known silent c.15 p.L5 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ZMYM3 9203 genome.wustl.edu 37 X 70472920 70472920 + Silent SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 70472920 70472920 G T SNP ZMYM3 ENST00000373988 human ensembl 70_37 -1 known silent c.186 p.T62 0.987 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ZMYND8 23613 genome.wustl.edu 37 20 45923508 45923508 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 45923508 45923508 C G SNP ZMYND8 ENST00000536340 human ensembl 70_37 -1 known missense c.490 p.E164Q 1.000 superfamily_Bromodomain,superfamily_Znf_FYVE_PHD pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ZNF217 7764 genome.wustl.edu 37 20 52193406 52193406 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 52193406 52193406 C T SNP ZNF217 ENST00000302342 human ensembl 70_37 -1 known missense c.1897 p.E633K 0.703 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ZNF254 9534 genome.wustl.edu 37 19 24289360 24289360 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 24289360 24289360 C T SNP ZNF254 ENST00000357002 human ensembl 70_37 +1 known silent c.168 p.V56 0.233 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF254 HGNC ZNF391 346157 genome.wustl.edu 37 6 27368923 27368923 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 27368923 27368923 C A SNP ZNF391 ENST00000244576 human ensembl 70_37 +1 known missense c.774 p.F258L 0.110 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF391 HGNC ZNF468 90333 genome.wustl.edu 37 19 53344689 53344689 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 53344689 53344689 G C SNP ZNF468 ENST00000595646 human ensembl 70_37 -1 known silent c.858 p.L286 0.002 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 ZNF468 HGNC ZNF582 147948 genome.wustl.edu 37 19 56895976 56895976 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 56895976 56895976 C G SNP ZNF582 ENST00000301310 human ensembl 70_37 -1 known missense c.810 p.L270F 0.000 pfam_Znf_C2H2,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 ZNF582 HGNC ZNF618 114991 genome.wustl.edu 37 9 116812420 116812420 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 116812420 116812420 C T SNP ZNF618 ENST00000374126 human ensembl 70_37 +1 known silent c.2838 p.L946 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ZNF630 57232 genome.wustl.edu 37 X 47918822 47918822 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 47918822 47918822 G A SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known missense c.1009 p.H337Y 0.997 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 ZNF630 HGNC ZNF708 7562 genome.wustl.edu 37 19 21477341 21477341 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 21477341 21477341 C G SNP ZNF708 ENST00000356929 human ensembl 70_37 -1 known missense c.427 p.D143H 0.008 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 ZNF708 HGNC ZNF726 730087 genome.wustl.edu 37 19 24116063 24116063 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 24116063 24116063 C T SNP ZNF726 ENST00000322487 human ensembl 70_37 +1 known missense c.1145 p.S382L 0.000 pfam_Znf_C2H2,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 ZNF726 HGNC ZNF768 79724 genome.wustl.edu 37 16 30537365 30537365 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 30537365 30537365 C T SNP ZNF768 ENST00000380412 human ensembl 70_37 -1 known missense c.96 p.M32I 0.721 NULL pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ZNF768 79724 genome.wustl.edu 37 16 30537662 30537662 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 30537662 30537662 C T SNP ZNF768 ENST00000380412 human ensembl 70_37 -1 known missense c.73 p.E25K 0.489 NULL pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ZNF778 197320 genome.wustl.edu 37 16 89294284 89294284 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 89294284 89294284 G A SNP ZNF778 ENST00000433976 human ensembl 70_37 +1 known missense c.1504 p.E502K 1.000 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 ZNF778 HGNC ZNF791 163049 genome.wustl.edu 37 19 12739990 12739990 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 12739990 12739990 G A SNP ZNF791 ENST00000343325 human ensembl 70_37 +1 known silent c.1647 p.E549 1.000 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 ZNF791 HGNC ZNF836 162962 genome.wustl.edu 37 19 52659404 52659404 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 52659404 52659404 G A SNP ZNF836 ENST00000322146 human ensembl 70_37 -1 known missense c.1532 p.S511L 0.002 pfam_Znf_C2H2,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 ZNF836 HGNC ZSWIM2 151112 genome.wustl.edu 37 2 187693431 187693431 + Silent SNP A A C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 187693431 187693431 A C SNP ZSWIM2 ENST00000295131 human ensembl 70_37 -1 known silent c.1182 p.T394 0.999 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC